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HOXC8 homeobox C8 [ Homo sapiens (human) ]

Gene ID: 3224, updated on 19-Sep-2024

Summary

Official Symbol
HOXC8provided by HGNC
Official Full Name
homeobox C8provided by HGNC
Primary source
HGNC:HGNC:5129
See related
Ensembl:ENSG00000037965 MIM:142970; AllianceGenome:HGNC:5129
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
HOX3; HOX3A
Summary
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the regulation of cartilage differentiation. It could also be involved in chondrodysplasias or other cartilage disorders. [provided by RefSeq, Jul 2008]
Expression
Biased expression in fat (RPKM 3.5), adrenal (RPKM 3.0) and 9 other tissues See more
Orthologs
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Genomic context

See HOXC8 in Genome Data Viewer
Location:
12q13.13
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (54008985..54012769)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53960328..53978298)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (54402769..54406553)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene HOXC cluster antisense RNA 1 Neighboring gene homeobox C9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6431 Neighboring gene uncharacterized LOC124902939 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4522 Neighboring gene VISTA enhancer hs2078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6433 Neighboring gene homeobox C6 Neighboring gene homeobox C5 Neighboring gene homeobox C4 Neighboring gene Sharpr-MPRA regulatory region 5451 Neighboring gene VISTA enhancer hs1875 Neighboring gene microRNA 615

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
homeobox protein Hox-C8
Names
Hox-3.1, mouse, homolog of
homeo box 3A
homeo box C8
homeobox protein Hox-3A

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)

  1. NM_022658.4NP_073149.1  homeobox protein Hox-C8

    See identical proteins and their annotated locations for NP_073149.1

    Status: REVIEWED

    Source sequence(s)
    AC012531, BC053898, BU618342
    Consensus CDS
    CCDS8870.1
    UniProtKB/Swiss-Prot
    A8K4J4, O15221, O15362, P31273
    Related
    ENSP00000040584.4, ENST00000040584.6
    Conserved Domains (1) summary
    pfam00046
    Location:153205
    Homeobox; Homeobox domain

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

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    54008985..54012769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    53960328..53978298
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371921.1XP_054227896.1  homeobox protein Hox-C8 isoform X1

    UniProtKB/Swiss-Prot
    A8K4J4, O15221, O15362, P31273
  2. XM_054371922.1XP_054227897.1  homeobox protein Hox-C8 isoform X1

    UniProtKB/Swiss-Prot
    A8K4J4, O15221, O15362, P31273