HOXD3 - homeobox D3 Gene

Homo sapiens

Also known as HOX4; HOX1D; HOX4A; Hox-4.1

Gene ID: 3232 | Gene type: protein coding

About HOXD3

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,152,529-176,173,098 (from NCBI)

This gene has 5 transcripts (splice variants), 193 orthologues and 42 paralogues. Biased expression in kidney (RPKM 1.9), endometrium (RPKM 1.4) and 11 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 the regulation of cell adhesion processes. [provided by RefSeq, Jul 2008]

HOXD3 Products(1)

mRNA	Protein	Name
NM_006898.5	NP_008829.3	homeobox protein Hox-D3

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	14610084	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	7913891	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23088713	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 DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	12836255	GOA
involved in Notch signaling pathway	IMP IMP: Inferred from mutant phenotype	12836255	GOA
involved in cell-matrix adhesion	IDA IDA: Inferred from direct assay	7742539	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	12836255	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	14610084	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

HOXD3 Protein Structure

Homeobox

DUF4074

0
100
200
300
400
432 a.a.

Protein Preferred Names

Protein Names

homeobox protein Hox-D3

Hox-4.1, mouse, homolog of

HOXD3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	HOXD3	P31249	NFKBID	Homo sapiens	Q8NI38	Validated Y2H	32296183
Intra	HOXD3	P31249	IGFN1	Homo sapiens	Q86VF2-5	Validated Y2H	32296183
Intra	HOXD3	P31249	HOXC8	Homo sapiens	P31273	Validated Y2H	32296183
Intra	HOXD3	P31249	SMARCD1	Homo sapiens	Q96GM5	Validated Y2H	32296183
Cross	HOXD3	P31249	Hoxa1	Mus musculus	P09022	Pull Down	23088713

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome	Duane'S Syndrome
Duane Syndrome	Isolated Duane Retraction Syndrome
Co-Contractive Retraction Syndrome	Duane Anomaly, Isolated
Ocular Retraction Syndrome	Drs
Durs

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-RS06327	HOXD3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	HOXD3	VGNC	VGNC:29933
Canis familiaris	HOXD3	VGNC	VGNC:41765
Macaca mulatta	HOXD3	VGNC	VGNC:104538
Felis catus	HOXD3	VGNC	VGNC:67634
Mus musculus	HOXD3	MGD	MGI:96207
Rattus norvegicus	HOXD3	RGD	RGD:1588601

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