HOXD8 - homeobox D8 Gene

Also Known as HOX4; HOX4E; HOX5.4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3234

About HOXD8

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,129,705-176,132,695 (from NCBI)

This gene has 4 transcripts (splice variants), 119 orthologues and 42 paralogues. Biased expression in kidney (RPKM 23.0), ovary (RPKM 9.5) and 10 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 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. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]

HOXD8 Products (3)

mRNA	Protein	Name
NM_001199746.2	NP_001186675.1	homeobox protein Hox-D8 isoform 2
NM_001199747.2	NP_001186676.1	homeobox protein Hox-D8 isoform 3
NM_019558.4	NP_062458.1	homeobox protein Hox-D8 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Verweise	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	1756725	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	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	Verweise	Source
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

HOXD8 Protein Structure

Homeobox

0
100
200
290 a.a.

Protein Preferred Names	Protein Names
homeobox protein Hox-D8	Hox-4.5

HOXD8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	HOXD8	P13378	LDLRAP1	Homo sapiens	Q5SW96	Validated Y2H	32296183
Intra	HOXD8	P13378	BAIAP2	Homo sapiens	Q9UQB8-6	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS06329	HOXD8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HOXD8	MGD	MGI:96209
Felis catus	HOXD8	VGNC	VGNC:80232
Bos taurus	HOXD8	VGNC	VGNC:106772
Canis familiaris	HOXD8	VGNC	VGNC:41766
Macaca mulatta	HOXD8	VGNC	VGNC:99369
Rattus norvegicus	HOXD8	RGD	RGD:6489440
Others	HOXD8	NCBI