H2BC12L H2B clustered histone 12 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: H2BC12Lprovided by HGNC
Official Full Name: H2B clustered histone 12 likeprovided by HGNC
Primary source: HGNC:HGNC:4762
See related: Ensembl:ENSG00000234289 AllianceGenome:HGNC:4762
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: H2B/s; H2BFS; H2BS1
Summary: Predicted to enable DNA binding activity. Involved in antimicrobial humoral immune response mediated by antimicrobial peptide and defense response to other organism. Located in cytosol; extracellular space; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

Location:: 21q22.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (43565182..43565648)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (41920726..41921192)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (44985063..44985529)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The H2BFS promoter is activated by serum depletion according to promoter reporter assays in HEK 293 cells.
Title: Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.

Submit: New GeneRIF Correction

Phenotypes

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:494853

NoName (e-PCR)
- UniSTS:482788

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	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in antibacterial humoral response	IDA Inferred from Direct Assay more info	PubMed
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to Gram-positive bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response in mucosa	IDA Inferred from Direct Assay more info	PubMed
involved_in substantia nigra development	HEP more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
part_of nucleosome	IEA Inferred from Electronic Annotation more info
located_in nucleus	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: histone H2B type F-S

Names: H2B histone family member S; H2B.S histone 1; histone H2B.s; histone protein

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_017445.3 → NP_059141.1 histone H2B type F-S

Status: VALIDATED

Source sequence(s)

AP001051

UniProtKB/Swiss-Prot

Q5R2W0

Related

ENSP00000481622.1, ENST00000599962.2

Conserved Domains (1) summary

smart00427
Location:28 → 124

H2B; Histone H2B