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HOXC13 homeobox C13 [ Homo sapiens (human) ]

Gene ID: 3229, updated on 1-Jun-2020

Summary

Official Symbol
HOXC13provided by HGNC
Official Full Name
homeobox C13provided by HGNC
Primary source
HGNC:HGNC:5125
See related
Ensembl:ENSG00000123364 MIM:142976
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; ECTD9; HOX3G
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 development of hair, nail, and filiform papilla. [provided by RefSeq, Jul 2008]
Expression
Biased expression in skin (RPKM 1.8), testis (RPKM 0.2) and 1 other tissue See more
Orthologs

Genomic context

See HOXC13 in Genome Data Viewer
Location:
12q13.13
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (53938831..53946544)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (54332576..54340328)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378250 Neighboring gene uncharacterized LOC107984525 Neighboring gene RN7SK pseudogene 289 Neighboring gene HOXC13 antisense RNA Neighboring gene uncharacterized LOC105369775 Neighboring gene NUP98-HOXC11 recombination region Neighboring gene homeobox C12 Neighboring gene HOX transcript antisense RNA Neighboring gene homeobox C11

Genomic regions, transcripts, and products

Expression

  • Project title: 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?

Phenotypes

Associated conditions

Description Tests
Ectodermal dysplasia 9, hair/nail type
MedGen: C3554127 OMIM: 614931 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.
NHGRI GWA Catalog
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
NHGRI GWA Catalog
Genome-wide association study of selenium concentrations.
NHGRI GWA Catalog
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
hair follicle development IEA
Inferred from Electronic Annotation
more info
 
nail development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
tongue morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 

General protein information

Preferred Names
homeobox protein Hox-C13
Names
NUP98/HOXC13
homeo box 3G
homeobox protein Hox-3G

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_033026.1 RefSeqGene

    Range
    5040..12753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017410.3NP_059106.2  homeobox protein Hox-C13

    See identical proteins and their annotated locations for NP_059106.2

    Status: REVIEWED

    Source sequence(s)
    AA722686, AF255676, AF263466, BC090850, BU158600
    Consensus CDS
    CCDS8865.1
    UniProtKB/Swiss-Prot
    P31276
    Related
    ENSP00000243056.3, ENST00000243056.5
    Conserved Domains (2) summary
    smart00389
    Location:260312
    HOX; Homeodomain
    pfam12284
    Location:54166
    HoxA13_N; Hox protein A13 N terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    53938831..53946544
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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