HOXD4 - homeobox D4 Gene

Homo sapiens

Also known as HOX4; HOX4B; HHO.C13; HOX-5.1; Hox-4.2

Gene ID: 3233 | Gene type: protein coding

About HOXD4

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,151,550-176,153,226 (from NCBI)

This gene has 1 transcript (splice variant), 204 orthologues and 42 paralogues. Biased expression in endometrium (RPKM 14.5), kidney (RPKM 10.9) and 13 other tissues.

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 at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

HOXD4 Products(1)

mRNA	Protein	Name
NM_014621.3	NP_055436.2	homeobox protein Hox-D4

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	1756725	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	1756725	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IMP IMP: Inferred from mutant phenotype	1756725	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in embryonic organ development	IEP IEP: Inferred from expression pattern	2879245	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	1756725	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

HOXD4 Protein Structure

Homeobox

0
100
200
255 a.a.

Protein Preferred Names

Protein Names

homeobox protein Hox-D4

Hox-4.2, mouse, homolog of homeo box X

HOXD4 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	HOXD4	P09016	PBX4	Homo sapiens	Q9BYU1	Validated Y2H	32296183
Intra	HOXD4	P09016	FANCL	Homo sapiens	Q9NW38	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Rhizomelic Chondrodysplasia Punctata, Type 3

Rhizomelic Chondrodysplasia Punctata Type 3	RCDP3
Alkyldihydroxyacetonephosphate Synthase Deficiency	Alkylglycerone-Phosphate Synthase Deficiency
Agps Deficiency	Rhizomelic Chondrodysplasia Punctata 3
Chondrodysplasia Punctata, Rhizomelic, Type 3

Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

Guttmacher Syndrome	Preaxial Deficiency, Postaxial Polydactyly And Hypospadias
Autosomal Dominant Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Preaxial Deficiency-Postaxial Polydactyly-Hypospadias Syndrome
GUTTS

Synpolydactyly

Syndactyly Type 2	Syndactyly, Type 2
Spd

Clubfoot

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

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-RS06328	HOXD4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	HOXD4	VGNC	VGNC:97278
Felis catus	HOXD4	VGNC	VGNC:107559
Rattus norvegicus	HOXD4	RGD	RGD:1309690
Mus musculus	HOXD4	MGD	MGI:96208

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