Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	3238
Gene name	Homeobox D12
Gene symbol	HOXD12
Synonyms (NCBI Gene)	HOX4H
Chromosome	2
Chromosome location	2q31.1
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 cluster

Show/Hide all (84)

miRTarBase ID	miRNA	Experiments	Reference
MIRT635171	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT635170	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT635169	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT635168	hsa-miR-495-3p	HITS-CLIP	23824327
MIRT635167	hsa-miR-5688	HITS-CLIP	23824327
MIRT635166	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT635165	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT670134	hsa-miR-3119	HITS-CLIP	23824327
MIRT635164	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT635162	hsa-miR-3685	HITS-CLIP	23824327
MIRT635163	hsa-miR-384	HITS-CLIP	23824327
MIRT635161	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT635171	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT635170	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT635169	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT635168	hsa-miR-495-3p	HITS-CLIP	23824327
MIRT635167	hsa-miR-5688	HITS-CLIP	23824327
MIRT635166	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT635165	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT635164	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT635162	hsa-miR-3685	HITS-CLIP	23824327
MIRT635163	hsa-miR-384	HITS-CLIP	23824327
MIRT635161	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT635164	hsa-miR-302c-5p	HITS-CLIP	27418678
MIRT635164	hsa-miR-302c-5p	HITS-CLIP	27418678
MIRT635164	hsa-miR-302c-5p	HITS-CLIP	27418678
MIRT635171	hsa-miR-3606-3p	HITS-CLIP	27418678
MIRT635171	hsa-miR-3606-3p	HITS-CLIP	27418678
MIRT635171	hsa-miR-3606-3p	HITS-CLIP	27418678
MIRT635171	hsa-miR-3606-3p	HITS-CLIP	27418678
MIRT635162	hsa-miR-3685	HITS-CLIP	27418678
MIRT635162	hsa-miR-3685	HITS-CLIP	27418678
MIRT635162	hsa-miR-3685	HITS-CLIP	27418678
MIRT635162	hsa-miR-3685	HITS-CLIP	27418678
MIRT635163	hsa-miR-384	HITS-CLIP	27418678
MIRT635163	hsa-miR-384	HITS-CLIP	27418678
MIRT635163	hsa-miR-384	HITS-CLIP	27418678
MIRT635163	hsa-miR-384	HITS-CLIP	27418678
MIRT635168	hsa-miR-495-3p	HITS-CLIP	27418678
MIRT635168	hsa-miR-495-3p	HITS-CLIP	27418678
MIRT635168	hsa-miR-495-3p	HITS-CLIP	27418678
MIRT635170	hsa-miR-513a-3p	HITS-CLIP	27418678
MIRT635170	hsa-miR-513a-3p	HITS-CLIP	27418678
MIRT635170	hsa-miR-513a-3p	HITS-CLIP	27418678
MIRT635170	hsa-miR-513a-3p	HITS-CLIP	27418678
MIRT635169	hsa-miR-513c-3p	HITS-CLIP	27418678
MIRT635169	hsa-miR-513c-3p	HITS-CLIP	27418678
MIRT635169	hsa-miR-513c-3p	HITS-CLIP	27418678
MIRT635169	hsa-miR-513c-3p	HITS-CLIP	27418678
MIRT635161	hsa-miR-552-5p	HITS-CLIP	27418678
MIRT635161	hsa-miR-552-5p	HITS-CLIP	27418678
MIRT635161	hsa-miR-552-5p	HITS-CLIP	27418678
MIRT635167	hsa-miR-5688	HITS-CLIP	27418678
MIRT635167	hsa-miR-5688	HITS-CLIP	27418678
MIRT635167	hsa-miR-5688	HITS-CLIP	27418678
MIRT635166	hsa-miR-7-1-3p	HITS-CLIP	27418678
MIRT635166	hsa-miR-7-1-3p	HITS-CLIP	27418678
MIRT635166	hsa-miR-7-1-3p	HITS-CLIP	27418678
MIRT635165	hsa-miR-7-2-3p	HITS-CLIP	27418678
MIRT635165	hsa-miR-7-2-3p	HITS-CLIP	27418678
MIRT635165	hsa-miR-7-2-3p	HITS-CLIP	27418678
MIRT635171	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT635170	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT635169	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT635168	hsa-miR-495-3p	HITS-CLIP	23824327
MIRT635167	hsa-miR-5688	HITS-CLIP	23824327
MIRT635166	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT635165	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT670134	hsa-miR-3119	HITS-CLIP	23824327
MIRT635164	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT635162	hsa-miR-3685	HITS-CLIP	23824327
MIRT635163	hsa-miR-384	HITS-CLIP	23824327
MIRT635161	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT635171	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT635170	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT635169	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT635168	hsa-miR-495-3p	HITS-CLIP	23824327
MIRT635167	hsa-miR-5688	HITS-CLIP	23824327
MIRT635166	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT635165	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT635164	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT635162	hsa-miR-3685	HITS-CLIP	23824327
MIRT635163	hsa-miR-384	HITS-CLIP	23824327
MIRT635161	hsa-miR-552-5p	HITS-CLIP	23824327

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001501	Process	Skeletal system development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
142988	5135	ENSG00000170178

P35452

Protein name

Homeobox protein Hox-D12 (Homeobox protein Hox-4H)

Protein function

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	203 → 259	Homeodomain	Domain

Sequence

MCERSLYRAGYVGSLLNLQSPDSFYFSNLRPNGGQLAALPPISYPRGALPWAATPASCAP
AQPAGATAFGGFSQPYLAGSGPLGLQPPTAKDGPEEQAKFYAPEAAAGPEERGRTRPSFA
PESSLAPAVAALKAAKYDYAGVGRATPGSTTLLQGAPCAPGFKDDTKGPLNLNMTVQAAG
VASCLRPSLPDGLPWGAAPGRARKKRKPYTKQQIAELENEFLVNEFINRQKRKELSNRLN
LSDQQVKIWFQNRRMKKKRVVLREQALALY

Sequence length

270

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CONGENITAL CLUBFOOT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOXD12-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB DEFORMITIES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Celiac Disease	Celiac disease	Pubtator	27836013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	LHGDN	16331564		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	18404365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	CTD_human_DG	19108020, 8620844		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	16778180		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus Pathologic	Nystagmus	Pubtator	21654727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	39259414	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36213580	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	21654727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	21654727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HOXD12 (homeobox D12)