H2AJ H2A.J histone [Homo sapiens (human)] - Gene

Summary

Official Symbol: H2AJprovided by HGNC
Official Full Name: H2A.J histoneprovided by HGNC
Primary source: HGNC:HGNC:14456
See related: Ensembl:ENSG00000246705 AllianceGenome:HGNC:14456
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: H2AFJ
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 is located on chromosome 12 and encodes a replication-independent histone that is a variant H2A histone. The protein is divergent at the C-terminus compared to the consensus H2A histone family member. This gene also encodes an antimicrobial peptide with antibacterial and antifungal activity.[provided by RefSeq, Oct 2015]
Expression: Broad expression in testis (RPKM 28.0), prostate (RPKM 26.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p12.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (14774405..14778002)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (14651754..14655351)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (14927339..14930936)

Chromosome 12 - NC_000012.12 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?

Studies on Human Cultured Fibroblasts and Cutaneous Squamous Cell Carcinomas Suggest That Overexpression of Histone Variant H2A.J Promotes Radioresistance and Oncogenic Transformation.
Title: Studies on Human Cultured Fibroblasts and Cutaneous Squamous Cell Carcinomas Suggest That Overexpression of Histone Variant H2A.J Promotes Radioresistance and Oncogenic Transformation.
Histone Variant H2A.J Is Enriched in Luminal Epithelial Gland Cells.
Title: Histone Variant H2A.J Is Enriched in Luminal Epithelial Gland Cells.
Histone Variant H2A.J Marks Persistent DNA Damage and Triggers the Secretory Phenotype in Radiation-Induced Senescence.
Title: Histone Variant H2A.J Marks Persistent DNA Damage and Triggers the Secretory Phenotype in Radiation-Induced Senescence.
Histone variant H2A.J (H2A.J) accumulates in senescent fibroblasts with DNA damage.
Title: Histone variant H2A.J accumulates in senescent cells and promotes inflammatory gene expression.
The antimicrobial protein buforin I results from proteolytic cleavage of the histone protein H2A in the stomach.
Title: Antimicrobial peptides: the ancient arm of the human immune system.
In this paper, the authors identified and cloned the H2AFJ gene on chr 12 and used it as a control for studying two macroH2A genes.
Title: Histone H2A variants and the inactive X chromosome: identification of a second macroH2A variant.

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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
Rev	rev	HIV-1 Rev interacting protein, histone H2A.J, is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells	PubMed
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

STS-H53100 (e-PCR)
- UniSTS:9361

H2AFJ_1740 (e-PCR)
- UniSTS:280747

RH47272 (e-PCR)
- UniSTS:3779

A004M21 (e-PCR)
- UniSTS:40649

RH44875 (e-PCR)
- UniSTS:34252

RH46157 (e-PCR)
- UniSTS:33757

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
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

Process	Evidence Code	Pubs
involved_in cellular response to gamma radiation	IEA Inferred from Electronic Annotation more info
involved_in cellular senescence	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex development	IEA Inferred from Electronic Annotation more info
involved_in heterochromatin formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
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: histone H2A.J

Names: H2A histone family member J; H2a/j; buforin I

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_177925.5 → NP_808760.1 histone H2A.J

See identical proteins and their annotated locations for NP_808760.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the functional protein.

Source sequence(s)

AC010168

Consensus CDS

CCDS31752.1

UniProtKB/Swiss-Prot

Q9BTM1, Q9NV63

UniProtKB/TrEMBL

B2R5B3

Related

ENSP00000438553.1, ENST00000544848.3

Conserved Domains (1) summary

PTZ00017
Location:1 → 129

PTZ00017; histone H2A; Provisional

RNA

NR_027716.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate segment, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC010168, KF455607

Related

ENST00000501744.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

14774405..14778002

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

14651754..14655351

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_018267.2: Suppressed sequence

Description

NM_018267.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and it is a nonsense-mediated mRNA decay (NMD) candidate.