• Gene id: 3201

Gene Summary

• Gene Symbol: HOXA4   Gene   UCSC   Ensembl
• Aliases: HOX1, HOX1D
• Gene name: homeobox A4
• Alternate names: homeobox protein Hox-A4, Dfd-like protein, Hox-1.4-like protein, homeo box A4, homeobox protein Hox-1.4, homeobox protein Hox-1D,
• Gene location: 7p15.2 (27130756: 27128524)     Exons: 2     NC_000007.14
• Gene summary(Entrez): In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic develo
• OMIM: 613040

SNPs

rs1801085

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27128971A>G
NC_000007.13   g.27168590A>G
NM_002141.4   c.*254T>C
NM_002141.5   c.*254T>C|SEQ=[A/G]|GENE=HOXA3
HOXA4   3201
HOXA-AS2   285943

Protein Summary

• Protein general information: Q00056  
  • Name: Homeobox protein Hox A4 (Homeobox protein Hox 1.4) (Homeobox protein Hox 1D)
  • Length: 320  
  • Mass: 34499
  • Tissue specificity: Embryonic nervous system.
• Sequence:

  MTMSSFLINSNYIEPKFPPFEEYAQHSGSGGADGGPGGGPGYQQPPAPPTQHLPLQQPQLPHAGGGREPTASYYA
  PRTAREPAYPAAALYPAHGAADTAYPYGYRGGASPGRPPQPEQPPAQAKGPAHGLHASHVLQPQLPPPLQPRAVP
  PAAPRRCEAAPATPGVPAGGSAPACPLLLADKSPLGLKGKEPVVYPWMKKIHVSAVNPSYNGGEPKRSRTAYTRQ
  QVLELEKEFHFNRYLTRRRRIEIAHTLCLSERQVKIWFQNRRMKWKKDHKLPNTKMRSSNSASASAGPPGKAQTQ
  SPHLHPHPHPSTSTPVPSSI

• Structural information:
  • Interpro: IPR009057  IPR017995  IPR001827  IPR017970  IPR001356   IPR020479  
  • Prosite: PS00032 PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000353151
• Other Databases: GeneCards:  HOXA4  Malacards:  HOXA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0048704	embryonic skeletal system morphogenesis	IBA	biological process
GO:0033613	activating transcription factor binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0009952	anterior/posterior pattern specification	IBA	biological process
GO:0001501	skeletal system development	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Hypospadias	MIK: 25108383
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25108383	Hypospadias	rs1801085		1,006 boys who underwent surgery for hypospadias and 5,486 individuals (2,390 males and 3,096 females)	Male infertility	GWAS
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray