MACROH2A2 protein expression summary - The Human Protein Atlas

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MACROH2A2

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HUMAN PROTEIN ATLAS SUMMARYⁱ General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Proteinⁱ Full gene name according to HGNC.	MacroH2A.2 histone
Gene nameⁱ Official gene symbol, which is typically a short form of the gene name, according to HGNC.	MACROH2A2 (H2AFY2)
Tissue specificityⁱ ??The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected. Read more	Low tissue specificity
Tissue expression clusterⁱ The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity. Read more	Smooth muscle tissue - Mixed function (mainly)
Single cell type specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected. Read more	Cell type enhanced (Cardiomyocytes, Hofbauer cells, Fibroblasts, Syncytiotrophoblasts)
Single cell type expression clusterⁱ The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity. Read more	Fibroblasts - ECM organization (mainly)
Immune cell specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed blood cell samples based on data from HPA. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected. Read more	Immune cell enhanced (myeloid DC)
Brain specificityⁱ The regional specificity category is based on mRNA expression levels in the analysed brain samples, grouped into 13 main brain regions and calculated for the three different species. All brain expression profiles are based on data from HPA. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category Read more	Low human brain regional specificity
Cancer prognostic summary	Gene product is not prognostic
Predicted locationⁱ All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions. Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached. Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s). The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location. Read more	Intracellular
Subcellular summaryⁱ Describes the main and potential additional location(s) of the encoded protein according to ICC-IF resukt in the Cell Atlas, as well as potential data regarding cell cycle depency (CCD) for the RNA and/or protein expression.	Located in Nucleoplasm (Single cell variability)
Protein function (UniProt)ⁱ Useful information about the protein provided by UniProt.	Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in stable X chromosome inactivation.... show less
Molecular function (UniProt)ⁱ Keywords assigned by UniProt to proteins due to their particular molecular function.	Chromatin regulator, DNA-binding
Gene summary (Entrez)ⁱ Useful information about the gene from Entrez	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and may participate in stable X chromosome inactivation. [provided by RefSeq, Oct 2015]... show less

TISSUEⁱ Summary of data presented in the Tissue section, with a representative image of protein expression (left) and an interactive chart showing the tissue-specific mRNA expression (right). The image and the chart are clickable and will redirect to more Tissue data. This section contains information regarding the expression profiles of protein-coding genes in normal human tissue, both on the mRNA and protein level. The protein expression data is derived from antibody-based protein profiling using immunohistochemistry. Read more

Tissue expression clusterⁱ The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity. Read more	Smooth muscle tissue - Mixed function (mainly)
Tissue specificityⁱ The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected. Read more	Low tissue specificity
Tissue distributionⁱ The RNA distribution category is based on mRNA expression levels in the analyzed samples based on a combination of data from HPA and GTEX. The categories include: detected in all, detected in many, detected in some, detected in single and not detected. Read more	Detected in all
Protein expressionⁱ A summary of the overall protein expression pattern across the analyzed normal tissues. The summary is based on knowledge-based annotation. "Estimation of protein expression could not be performed. View primary data." is shown for genes analyzed with a knowledge-based approach where available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with immunohistochemistry data to yield a reliable estimation of the protein expression profile. Read more	Ubiquitous nuclear expression.

BRAINⁱ Summary of data presented in the Brain Atlas and a representative image of mRNA expression in the human brain. The image is clickable and will redirect to more Brain Atlas data. The Brain Atlas explores the protein expression in the mammalian brain by visualization and integration of data from three mammalian species (human, pig and mouse). Transcriptomics data combined with affinity-based protein in situ localization down to single cell level is available in a brain-centric sub atlas of the Human Protein Atlas. Read more

Human regional specificityⁱ The regional specificity category is based on mRNA expression levels in the analysed brain samples, grouped into 13 main brain regions and calculated for the three different species. All brain expression profiles are based on data from HPA. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category. Read more	Low region specificity
Pig regional specificityⁱ The regional specificity category is based on mRNA expression levels in the analysed brain samples, grouped into 13 main brain regions and calculated for the three different species. All brain expression profiles are based on data from HPA. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category. Read more	Low region specificity
Mouse regional specificityⁱ The regional specificity category is based on mRNA expression levels in the analysed brain samples, grouped into 13 main brain regions and calculated for the three different species. All brain expression profiles are based on data from HPA. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category. Read more	Low region specificity

SINGLE CELL TYPEⁱ Summary of data presented in the Single cell Type section, with an interactive chart showing the cell type-specific mRNA expression. The chart is clickable and will redirect to more Cell Type data. This section contains information about single cell type RNA expression based on scRNAseq of human tissues. The data also covers transcriptomics analysis of human blood and cultured cell lines. Read more

Single cell type expression clusterⁱ The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity. Read more	Fibroblasts - ECM organization (mainly)
Cell type specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected. Read more	Cell type enhanced (Cardiomyocytes, Hofbauer cells, Fibroblasts, Syncytiotrophoblasts)

TISSUE CELL TYPEⁱ

Keratinocyte (other)

Thyroid glandular cells

Classificationⁱ

Cell type enriched in 3 tissues

PATHOLOGYⁱ Summary of data presented in the Pathology section, with representative images of protein expression in cancer (left) and correlation between mRNA expression and patient survival (right). Images are clickable and redirect to pages with more Pathology data. This section contains mRNA and protein expression data from 17 different forms of human cancer, as well as correlation analysis of mRNA expression and patient survival. The protein expression data is derived from antibody-based protein profiling using immunohistochemistry. Read more

Prognostic summary	Gene product is not prognostic
Cancer specificityⁱ Specificity of RNA expression in 17 cancer types is categorized as either cancer enriched, group enriched, cancer enhanced, low cancer specificity and not detected. Read more	Low cancer specificity
Cancer distributionⁱ Distribution of RNA expression in 17 cancer types is categorized as either detected in single, detected in some, detected in many, detected in all, or not detected. Read more	Detected in all

IMMUNE CELLⁱ Summary of data presented in the Immune Cell section and a representative image of mRNA expression in immune cells in the blood. The image is clickable and will redirect to more immune cell related data. The Immune Cell section contains information regarding single cell type mRNA expression profiles of protein-coding genes in various immune cells in the blood, e.g. B-cells and granulocytes. Read more

Immune cell expression clusterⁱ The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity. Read more	Myeloid DCs - Unknown function (mainly)
Immune cell specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed samples based on data from HPA. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected. Read more	Immune cell enhanced (myeloid DC)

BLOOD PROTEINⁱ Summary of data presented in the Blood proteins section and a representative image of the concentration in plasma and related function for the protein in plasma. The image is clickable and will redirect to more data. The Blood proteins section contains plasma levels of proteins detected in human blood and an analysis of the human secretome (including annotation of the genes predicted to be actively secreted to human blood) is also presented. Read more
Detected in blood by immunoassayⁱ The blood-based immunoassay category applies to actively secreted proteins and is based on plasma or serum protein concentrations established with enzyme-linked immunosorbent assays, compiled from a literature search. The categories include: detected and not detected, where detection refers to a concentration found in the literature search. Read more	No (not applicable)
Detected in blood by mass spectrometryⁱ Detection or not of the gene in blood, based on spectral count estimations from a publicly available mass spectrometry-based plasma proteomics data set obtained from the PeptideAtlas.	No
Detected in blood by proximity extension assayⁱ Detection or not of the gene in blood, based on proximity extension assays (Olink) for a longitudinal wellness study covering 76 individuals with three visits during two years. Read more	No

SUBCELLULARⁱ Summary of data presented in the Cell Atlas and a representative image of subcellular localization. The Cell Atlas provides RNA expression data derived from RNA sequencing of a large panel of cell lines and protein localization data derived from antibody-based profiling by immunofluorescence confocal microscopy, using a subset of cell lines selected based on RNA expression. Read more

Main locationⁱ Main subcellular location(s) and reliability score(s) for the encoded protein(s) in human cells. The main location(s) may be characterized by presence in all tested cell lines and/or ihigher staining intensity compared to the potential additional location(s). If available, links to overrepresentation analyses in Reactome, a free, open-source, curated and peer reviewed biological pathway database, are provided. An analysis is done for the corresponding gene set of the proteome localizing to the main and additional locations of the protein on this page, respectively. Read more	Localized to the Nucleoplasm
Cell cycle dependencyⁱ Cell-cycle dependance of single-cell varations in RNA and/or protein expression as observed in an additional assay for characterizing single-cell varations. "NA" indicates a lack of such data. Read more	Variation in protein and transcript expression do not correlate to the cell-cycle.

CELL LINEⁱ Summary of data presented in the Cell Line section and a representative image of mRNA expression across different human cell lines. The image is clickable and will redirect to more cell line data. This section contains information regarding mRNA expression profiles of human protein-coding genes for a large variety of cell lines. Read more

Cell line expression clusterⁱ The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity. Read more	NES - Nervous system development (mainly)
Cell line specificityⁱ RNA specificity category based on RNA sequencing data from all cell lines in the Human Protein Atlas. Genes are classified into six different categories (enriched, group enriched, enhanced, low specificity and not detected) according to their RNA expression levels across the panel of cell lines. Read more	Cell line enhanced (AF22, AN3-CA, SCLC-21H, SH-SY5Y)
Cell type distributionⁱ The RNA distribution category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: detected in all, detected in many, detected in some, detected in single and not detected. Read more	Detected in some

METABOLIC

Metabolic info	Not available

GENE INFORMATIONⁱ Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Gene name	MACROH2A2 (HGNC Symbol)
Synonyms	H2AFY2
Description	MacroH2A.2 histone (HGNC Symbol)
Chromosome	10
Cytoband	q22.1
Chromosome location (bp)	70052544 - 70112282
Number of transcriptsⁱ Number of protein-coding transcripts from the gene as defined by Ensembl.	14
Protein evidence	Evidence at protein level (all genes)
Protein classⁱ Assigned HPA protein class(es) for the encoded protein(s). Read more
Ensembl	ENSG00000099284 (version 103.38)
Entrez gene	55506
UniProt	Q9P0M6 (UniProt - Evidence at protein level)
neXtProt	NX_Q9P0M6
Antibodypedia	MACROH2A2 antibodies

PROTEIN BROWSERⁱ

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MACROH2A2-201

MACROH2A2-202

MACROH2A2-203

MACROH2A2-204

MACROH2A2-206

MACROH2A2-207

MACROH2A2-208

MACROH2A2-214

MACROH2A2-216

MACROH2A2-220

MACROH2A2-221

MACROH2A2-226

MACROH2A2-232

MACROH2A2-233

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PROTEIN INFORMATIONⁱ The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database. The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein. The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class. The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MACROH2A2-201 ENSP00000362352 ENST00000373255	Q9P0M6 [Direct mapping] Core histone macro-H2A.2 A0A024QZP6 [Target identity:100%; Query identity:100%] Core histone macro-H2A Show all	Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000122 [negative regulation of transcription by RNA polymerase II] GO:0000781 [chromosome, telomeric region] GO:0000785 [chromatin] GO:0000786 [nucleosome] GO:0000976 [transcription regulatory region sequence-specific DNA binding] GO:0000977 [RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0001740 [Barr body] GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005694 [chromosome] GO:0006325 [chromatin organization] GO:0006334 [nucleosome assembly] GO:0006342 [chromatin silencing] GO:0007420 [brain development] GO:0007549 [dosage compensation] GO:0031490 [chromatin DNA binding] GO:0045618 [positive regulation of keratinocyte differentiation] GO:0045814 [negative regulation of gene expression, epigenetic] GO:0046982 [protein heterodimerization activity] GO:0070062 [extracellular exosome] GO:0071169 [establishment of protein localization to chromatin] GO:1901837 [negative regulation of transcription of nucleolar large rRNA by RNA polymerase I] Show all	372 aa 40.1 kDa	No	0
MACROH2A2-202 ENSP00000404584 ENST00000455786	Q5SQT3 [Direct mapping] Histone H2A Show all	SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014) Show all	GO:0000786 [nucleosome] GO:0003677 [DNA binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005694 [chromosome] GO:0006325 [chromatin organization] GO:0046982 [protein heterodimerization activity] Show all	242 aa 26.2 kDa	No	0
MACROH2A2-203 ENSP00000503921 ENST00000676608		Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014) Show all	GO:0000786 [nucleosome] GO:0003677 [DNA binding] GO:0046982 [protein heterodimerization activity] Show all	57 aa 6.3 kDa	No	0
MACROH2A2-204 ENSP00000504787 ENST00000676609		Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014) Show all	GO:0000786 [nucleosome] GO:0003677 [DNA binding] GO:0046982 [protein heterodimerization activity] Show all	57 aa 6.3 kDa	No	0
MACROH2A2-206 ENSP00000504381 ENST00000676692		SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014) Show all	GO:0000786 [nucleosome] GO:0003677 [DNA binding] GO:0046982 [protein heterodimerization activity] Show all	196 aa 21 kDa	No	0
MACROH2A2-207 ENSP00000503741 ENST00000676699		Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014) Show all	GO:0000786 [nucleosome] GO:0003677 [DNA binding] GO:0046982 [protein heterodimerization activity] Show all	335 aa 36.3 kDa	No	0
MACROH2A2-208 ENSP00000503740 ENST00000676896		Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014) Show all	GO:0000786 [nucleosome] GO:0003677 [DNA binding] GO:0046982 [protein heterodimerization activity] Show all	342 aa 36.8 kDa	No	0
MACROH2A2-214 ENSP00000503512 ENST00000677557		THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014) Show all		141 aa 15.5 kDa	No	0
MACROH2A2-216 ENSP00000503009 ENST00000677881		SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014) Show all	GO:0000786 [nucleosome] GO:0003677 [DNA binding] GO:0046982 [protein heterodimerization activity] Show all	242 aa 25.8 kDa	No	0
MACROH2A2-220 ENSP00000503399 ENST00000678191		SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014) Show all	GO:0000786 [nucleosome] GO:0003677 [DNA binding] GO:0046982 [protein heterodimerization activity] Show all	270 aa 29.1 kDa	No	0
MACROH2A2-221 ENSP00000504456 ENST00000678195		Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014) Show all		65 aa 6.8 kDa	No	0
MACROH2A2-226 ENSP00000504220 ENST00000678526		Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014) Show all		68 aa 7.1 kDa	No	0
MACROH2A2-232 ENSP00000504852 ENST00000679292		Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014) Show all	GO:0000786 [nucleosome] GO:0003677 [DNA binding] GO:0046982 [protein heterodimerization activity] Show all	218 aa 23.5 kDa	No	0
MACROH2A2-233 ENSP00000503835 ENST00000679349	A0A024QZP6 [Target identity:100%; Query identity:100%] Core histone macro-H2A Show all	Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014) Show all	GO:0000785 [chromatin] GO:0000786 [nucleosome] GO:0003677 [DNA binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005694 [chromosome] GO:0006325 [chromatin organization] GO:0006334 [nucleosome assembly] GO:0031490 [chromatin DNA binding] GO:0046982 [protein heterodimerization activity] Show all	372 aa 40.1 kDa	No	0

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