ENSG00000123364


Homo sapiens

Features
Gene ID: ENSG00000123364
  
Biological name :HOXC13
  
Synonyms : homeobox C13 / HOXC13 / P31276
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q13.13
Gene start: 53938765
Gene end: 53946544
  
Corresponding Affymetrix probe sets: 219832_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000243056
NCBI entrez gene - 3229     See in Manteia.
OMIM - 142976
RefSeq - NM_017410
RefSeq Peptide - NP_059106
swissprot - P31276
Ensembl - ENSG00000123364
  
Related genetic diseases (OMIM): 614931 - Ectodermal dysplasia 9, hair/nail type, 614931

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hoxc13aENSDARG00000070353Danio rerio
 Q6JIY4ENSDARG00000113877Danio rerio
 HOXC13ENSGALG00000036082Gallus gallus
 Hoxc13ENSMUSG00000001655Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HOXA13 / P31271 / homeobox A13ENSG0000010603151
HOXD13 / P35453 / homeobox D13ENSG0000012871445
HOXB13 / Q92826 / homeobox B13ENSG0000015918440
HOXC10 / Q9NYD6 / homeobox C10ENSG0000018081819
HOXD11 / P31277 / homeobox D11ENSG0000012871318
HOXA9 / P31269 / homeobox A9ENSG0000007839918
HOXD10 / P28358 / homeobox D10ENSG0000012871017
HOXC11 / O43248 / homeobox C11ENSG0000012338817
HOXA10 / P31260 / homeobox A10ENSG0000025329317
HOXA11 / P31270 / homeobox A11ENSG0000000507317
HOXD12 / P35452 / homeobox D12ENSG0000017017817
HOXD9 / P28356 / homeobox D9ENSG0000012870917
HOXB9 / P17482 / homeobox B9ENSG0000017068916
HOXC9 / P31274 / homeobox C9ENSG0000018080616
HOXC12 / P31275 / homeobox C12ENSG0000012340715
AC004080.3ENSG0000025718412


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR009057  Homeobox-like domain superfamily
 IPR017970  Homeobox, conserved site
 IPR022067  Homeobox protein Hox1A3 N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001942 hair follicle development IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0009653 anatomical structure morphogenesis IEA
 biological_processGO:0009952 anterior/posterior pattern specification IEA
 biological_processGO:0035878 nail development IEA
 biological_processGO:0043587 tongue morphogenesis IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000968 Ectodermal dysplasia 
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 HP:0001006 Hypotrichosis "Reduced or lacking hair growth." [HPO:curators]
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 HP:0001598 Koilonychia 
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 HP:0008404 Nail dystrophy, variable 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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