• Gene id: 3229

Gene Summary

• Gene Symbol: HOXC13   Gene   UCSC   Ensembl
• Aliases: ECTD9, HOX3, HOX3G
• Gene name: homeobox C13
• Alternate names: homeobox protein Hox-C13, NUP98/HOXC13, homeo box 3G, homeobox protein Hox-3G,
• Gene location: 12q13.13 (53938830: 53946543)     Exons: 2     NC_000012.12
• Gene summary(Entrez): 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 cluster
• OMIM: 607192

Protein Summary

• Protein general information: P31276  
  • Name: Homeobox protein Hox C13 (Homeobox protein Hox 3G)
  • Length: 330  
  • Mass: 35379
• Sequence:

  MTTSLLLHPRWPESLMYVYEDSAAESGIGGGGGGGGGGTGGAGGGCSGASPGKAPSMDGLGSSCPASHCRDLLPH
  PVLGRPPAPLGAPQGAVYTDIPAPEAARQCAPPPAPPTSSSATLGYGYPFGGSYYGCRLSHNVNLQQKPCAYHPG
  DKYPEPSGALPGDDLSSRAKEFAFYPSFASSYQAMPGYLDVSVVPGISGHPEPRHDALIPVEGYQHWALSNGWDS
  QVYCSKEQSQSAHLWKSPFPDVVPLQPEVSSYRRGRKKRVPYTKVQLKELEKEYAASKFITKEKRRRISATTNLS
  ERQVTIWFQNRRVKEKKVVSKSKAPHLHST

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR022067  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000243056
• Other Databases: GeneCards:  HOXC13  Malacards:  HOXC13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001942	hair follicle development	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0009653	anatomical structure morphogenesis	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0043587	tongue morphogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0035878	nail development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Ectodermal dysplasia, hair-nail type	KEGG:H00649
Ectodermal dysplasia, hair-nail type	KEGG:H00649
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881