Homeobox protein Hox-D13 is a protein that in humans is encoded by the HOXD13 gene.^[5][6][7] 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.

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HOXD13
Identifiers
Aliases	HOXD13, BDE, BDSD, HOX4I, SPD, SPD1, homeobox D13
External IDs	OMIM: 142989 MGI: 96205 HomoloGene: 20147 GeneCards: HOXD13
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q31.1 Start 176,092,721 bp[1] End 176,095,944 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 C3|2 44.13 cM Start 74,498,654 bp[2] End 74,501,943 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in urethra vagina Achilles tendon seminal vesicula prostate canal of the cervix vulva rectum urinary bladder human penis Top expressed in left colon hand rectum foot vas deferens urethra footplate Hindgut female urethra male urethra More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific chromatin binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity sequence-specific double-stranded DNA binding Cellular component nucleus Biological process pattern specification process skeletal system development regulation of branching involved in prostate gland morphogenesis male genitalia development regulation of transcription, DNA-templated limb morphogenesis embryonic digit morphogenesis embryonic hindgut morphogenesis branch elongation of an epithelium transcription, DNA-templated multicellular organism development gland morphogenesis regulation of cell population proliferation embryonic limb morphogenesis prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis anterior/posterior pattern specification morphogenesis of an epithelial fold transcription by RNA polymerase II prostate gland development response to testosterone positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3239 15433 Ensembl ENSG00000128714 ENSMUSG00000001819 UniProt P35453 P70217 RefSeq (mRNA) NM_000523 NM_008275 RefSeq (protein) NP_000514 NP_032301 Location (UCSC) Chr 2: 176.09 – 176.1 Mb Chr 2: 74.5 – 74.5 Mb PubMed search [3] [4]
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Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9–11 genes arranged in tandem. HOXD13 is the first of several 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 product of the mouse Hoxd13 gene plays a role in axial skeleton development and forelimb morphogenesis.^[8]

Changes in the expression of the Hoxd13 gene in early lobe-finned fish may have also contributed to the evolution of the tetrapod limb.^[9] Experiments investigating the impact of 5′ Hoxd overexpression in zebrafish embryos observed modified development of distal fin structures, resulting in increased proliferation, distal expansion of cartilage tissue and fin fold reduction.^[10] A number of similar studies conducted with a range of animals, including catsharks^[11] and marsupials,^[12] lend further credibility to the role of the Hoxd13 gene in the fin-to-limb transition.

Mutations in HOXD13 can cause several types of autosomal dominant syndactyly and brachydactyly, including brachydactyly type D ("club thumb"), brachydactyly type E, syndactyly type 5 and synpolydactyly type 1.^[13]

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