U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 54145, updated on 7-Jan-2024

Summary

Go to the top of the page Help
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]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
21q22.3
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (43565182..43565648)
RS_2023_10 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_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723380 Neighboring gene heat shock transcription factor 2 binding protein Neighboring gene long intergenic non-protein coding RNA 313 Neighboring gene Sharpr-MPRA regulatory region 2841 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44905292-44906122 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:44908716-44908853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44912277-44913132 Neighboring gene Sharpr-MPRA regulatory region 13752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44918667-44919571 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44922889-44923698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44923814-44924426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44924427-44925037 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:44928045-44928546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:44931227-44931922 Neighboring gene ribosomal protein L31 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:45003551-45004052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13361 Neighboring gene microRNA 6070 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18545 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:45094121-45094620 Neighboring gene ribosomal RNA processing 1B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13363

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Biochemical and antibacterial analysis of human wound and blister fluid. Frohm M, et al. Eur J Biochem, 1996 Apr 1. PMID 8620898
  2. Endotoxin-neutralizing antimicrobial proteins of the human placenta. Kim HS, et al. J Immunol, 2002 Mar 1. PMID 11859126
  3. Antimicrobial polypeptides of the human colonic epithelium. Howell SJ, et al. Peptides, 2003 Nov. PMID 15019208
  4. Quantitative proteomic analysis of post-translational modifications of human histones. Beck HC, et al. Mol Cell Proteomics, 2006 Jul. PMID 16627869
  5. Inhibition of core histones acetylation by carcinogenic nickel(II). Golebiowski F, et al. Mol Cell Biochem, 2005 Nov. PMID 16283522

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

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 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 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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)

  1. NM_017445.3 → NP_059141.1  histone H2B type F-S

    Status: VALIDATED

    Source sequence(s)
    AP001051
    UniProtKB/Swiss-Prot
    A0AVF9, P57053, Q5R2W0
    UniProtKB/TrEMBL
    Q0D2M2
    Related
    ENSP00000481622.1, ENST00000599962.2
    Conserved Domains (1) summary
    smart00427
    Location:28 → 124
    H2B; Histone H2B

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    43565182..43565648
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    41920726..41921192
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_006504.3: Suppressed sequence

    Description
    NG_006504.3: This RefSeq was removed because it is now thought that this locus is a transcribed gene.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P57053.2 GenPept UniProtKB/Swiss-Prot:P57053

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Miscellaneous