MACROH2A2 macroH2A.2 histone [Homo sapiens (human)] - Gene

Summary

Official Symbol: MACROH2A2provided by HGNC
Official Full Name: macroH2A.2 histoneprovided by HGNC
Primary source: HGNC:HGNC:14453
See related: Ensembl:ENSG00000099284 MIM:616141; AllianceGenome:HGNC:14453
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: H2AFY2
Summary: 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]
Expression: Ubiquitous expression in endometrium (RPKM 13.3), prostate (RPKM 7.9) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (70052846..70112282)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (70921840..70981283)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (71812602..71872038)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Breast cancer malignancy is governed by regulation of the macroH2A2/TM4SF1 axis, the AKT/NF-kappaB pathway, and elevated MMP13 expression.
Title: Breast cancer malignancy is governed by regulation of the macroH2A2/TM4SF1 axis, the AKT/NF-κB pathway, and elevated MMP13 expression.
Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0.
Title: Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0.
LSH catalyzes ATP-driven exchange of histone variants macroH2A1 and macroH2A2.
Title: LSH catalyzes ATP-driven exchange of histone variants macroH2A1 and macroH2A2.
rs16927253-T and rs4746957-A alleles showed a dominant protective effect towards eyelid sagging
Title: A genome wide association study identifies new genes potentially associated with eyelid sagging.
macroH2A1.1 mediates an isoform-specific effect through its ability to suppress PARP1 activity. Second, the unstructured linker region exerts an additional repressive effect that is common to all macroH2A proteins. In the absence of DNA damage, the macroH2A linker is also sufficient for rescuing heterochromatin architecture in cells deficient for macroH2A
Title: MacroH2A histone variants limit chromatin plasticity through two distinct mechanisms.
Observational study of gene-disease association. (HuGE Navigator)
Title: Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.
expression of histone macroH2A1.1 and macroH2A2 predicts lung cancer recurrence.
Title: Histone macroH2A isoforms predict the risk of lung cancer recurrence.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat peptides bind core histones H2A, H2B, H3 and H4, and Tat protein recruits histone acetyltransferases to the HIV-1 LTR promoter leading to acetylation of histones H3 and H4, derepressing chromatin structure and increasing NFkappaB responsiveness	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-3495 (e-PCR)
- UniSTS:47632

SHGC-145698 (e-PCR)
- UniSTS:174734

SHGC-106558 (e-PCR)
- UniSTS:169898

H2AFY2__1195 (e-PCR)
- UniSTS:280748

RH99102 (e-PCR)
- UniSTS:84147

D10S529 (e-PCR)
- UniSTS:13000

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables structural constituent of chromatin	IBA Inferred from Biological aspect of Ancestor more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of protein localization to chromatin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heterochromatin formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of gene expression, epigenetic	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	IGI Inferred from Genetic Interaction more info	PubMed
involved_in nucleosome assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of keratinocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sex-chromosome dosage compensation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Barr body	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, telomeric region	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
part_of nucleosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: core histone macro-H2A.2

Names: H2A histone family member Y2; core histone macroH2A2.2; histone macroH2A2; mH2A2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_018649.3 → NP_061119.1 core histone macro-H2A.2

See identical proteins and their annotated locations for NP_061119.1

Status: REVIEWED

Source sequence(s)

AC024601, AL731540

Consensus CDS

CCDS7296.1

UniProtKB/Swiss-Prot

Q5SQT2, Q9P0M6

UniProtKB/TrEMBL

A0A7I2V412

Related

ENSP00000362352.3, ENST00000373255.9

Conserved Domains (2) summary

cd00074
Location:5 → 117

H2A; Histone 2A; H2A is a subunit of the nucleosome. The nucleosome is an octamer containing two H2A, H2B, H3, and H4 subunits. The H2A subunit performs essential roles in maintaining structural integrity of the nucleosome, chromatin condensation, and binding ...

cd02904
Location:178 → 368

Macro_H2A-like; macrodomain, macroH2A-like family