HOXD12 - homeobox D12 Gene

Homo sapiens

Also known as HOX4H

Gene ID: 3238 | Gene type: protein coding

About HOXD12

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,099,795-176,102,489 (from NCBI)

This gene has 2 transcripts (splice variants), 189 orthologues and 42 paralogues. Low expression observed in reference dataset.

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, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]

HOXD12 Products(1)

mRNA	Protein	Name
NM_021193.4	NP_067016.3	homeobox protein Hox-D12

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HOXD12 Protein Structure

Homeobox

0
100
200
270 a.a.

Protein Preferred Names

Protein Names

homeobox protein Hox-D12

Hox-4.7, mouse, homolog of

Related Diseases

Diseases

Alias

Synpolydactyly

Syndactyly Type 2	Syndactyly, Type 2
Spd

Brachydactyly-Syndactyly Syndrome

BDSD	Brachydactyly-Syndactyly-Oligodactyly Syndrome
Brachydactyly-Syndactyly, Zhao Type	BDSDO

Syndactyly, Type V

Syndactyly Type 5	SDTY5
Syndactyly With Metacarpal And Metatarsal Fusion	Syndactyly With Associated Metacarpal And Metatarsal Fusion
Postaxial Syndactyly With Metacarpal Synostosis	Sd5
Syndactyly 5	Syndactyly Type V

Syndactyly, Type Iv

Syndactyly Type 4	Polysyndactyly, Haas Type
SDTY4	Haas Type Syndactyly
Sd4	Polysyndactyly Type Haas
Syndactyly 4	Polysyndactyly Haas Type
Syndactyly Type Iv

Clubfoot

Congenital Talipes Equinovarus	Congenital Clubfoot
Congenital Equinovarus	Equinovarus Deformity Of Foot
Club Foot

Tibia, Hypoplasia Or Aplasia Of, With Polydactyly

Hypoplastic Or Aplastic Tibia With Polydactyly	Absence Of Tibia With Polydactyly
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	THYP
Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs With Fibular Dimelia	Absent Tibia-Polydactyly Syndrome
Werner Mesomelic Syndrome	Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Polydactyly With Absent Tibia	Werner Mesomelic Spectrum
Hypoplasia Or Aplasia Of Tibia With Polydactyly	Wms
Tibia, Hypoplasia Of, With Polydactyly

Laurin-Sandrow Syndrome

Sandrow Syndrome	Tetramelic Mirror-Image Polydactyly
Mirror-Image Polydactyly	Mirror Hands And Feet With Nasal Defects
Tmip	LSS
Mip	Mirror Hands And Feets-Nasal Defects Syndrome
Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius	Miccor Hands And Feet With Nasal Defects
Mipduplication Of Fibuland Ulna With Absence Of Tibia And Radius	Fibula Ulna Duplication Tibia Radius Absence
Laurin Sandrow Syndrome	Duplication Of Fibula And Ulna With Absence Of Tibia And Radius
Segmental Laurin-Sandrow Syndrome	Laurin-Sandrow Syndrome, Segmental

Hand-Foot-Genital Syndrome

Hand-Foot-Uterus Syndrome	Hfgs
Hfg Syndrome	Hfu Syndrome
HFG	Hfu
Hand Foot Uterus Syndrome	Hand Foot Genital Syndrome

Metacarpal 4-5 Fusion

Syndactyly Type 8	MF4
Fusion Of Metacarpals 4 And 5	Metacarpals 4 And 5 Fusion
Metacarpal 4 5 Fusion

Brachydactyly

Brachydactyly, Type E1

Brachydactyly Type E1	Brachydactyly Type E
BDE1	Brachydactyly, Type E
Bde	Type E Brachydactyly
Brachydactyly E1	Brachydactyly Syndrome Type E

Brachydactyly, Type D

Brachydactyly Type D	BDD
Stub Thumb	Brachydactyly D

Chromosome 2q35 Duplication Syndrome

Syndactyly	Syndactyly Type 1
Sdty1	Zygodactyly
Syndactyly, Type I	Sd1
Syndactyly, Type 1, With Or Without Craniosynostosis	Symphalangism
Non-Syndromic Syndactyly	Symphalangy
Webbing Of Digits	Syndactyly, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06325	HOXD12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HOXD12	MGD	MGI:96204
Canis familiaris	HOXD12	VGNC	VGNC:41764
Felis catus	HOXD12	VGNC	VGNC:107558
Rattus norvegicus	HOXD12	RGD	RGD:1309797
Bos taurus	HOXD12	VGNC	VGNC:29932
Macaca mulatta	HOXD12	VGNC	VGNC:73508

Name
Email *

	Sorry, but the email address you supplied was invalid.