HOXD13 - homeobox D13 Gene

Also Known as BDE; SPD; BDSD; SPD1; HOX4I

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3239

About HOXD13

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,087,487-176,095,944 (from NCBI)

This gene has 1 transcript (splice variant), 136 orthologues, 42 paralogues and is associated with 56 phenotypes. Biased expression in colon (RPKM 2.7), prostate (RPKM 2.6) and 1 other tissue.

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. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]

HOXD13 Products (1)

mRNA	Protein	Name
NM_000523.4	NP_000514.2	homeobox protein Hox-D13

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	26581570	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	24789103	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	24789103	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

HOXD13 Protein Structure

HoxA13_N

Homeobox

0
100
200
300
343 a.a.

Protein Preferred Names	Protein Names
homeobox protein Hox-D13	homeo box 4I

Related Diseases

Diseases	Alias
Brachydactyly-Syndactyly Syndrome	BDSD Brachydactyly-Syndactyly-Oligodactyly Syndrome Brachydactyly-Syndactyly, Zhao Type BDSDO
Synpolydactyly 1	SPD1 Synpolydactyly Type 1 Syndactyly, Type Ii Sdty2 Sd2, Vordingborg Type Sd2a Spd, Vordingborg Type Synpolydactyly, Vordingborg Type Sdyt2 Syndactyly Type 2 Synpolydactyly, Type 1
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
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
Synpolydactyly	Syndactyly Type 2 Syndactyly, Type 2 Spd
Zygodactyly Type 3	Sd1, Montagu Type Sd1c Syndactyly Type 1, Montagu Type Syndactyly Type 1c Zygodactyly, Montagu Type
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
Oligospermia
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Male Infertility	Infertility, Male Infertility Male Male Sterility Absolute Infertility
Vater/Vacterl Association	Vacterl Association Vater Association Vacterl/Vater Association VACTERL
Hand-Foot-Genital Syndrome	Hand-Foot-Uterus Syndrome Hfgs Hfg Syndrome Hfu Syndrome HFG Hfu Hand Foot Uterus Syndrome Hand Foot Genital Syndrome
Brachydactyly
Brachydactyly, Type A4	Brachymesophalangy Ii And V Temtamy Type Brachydactyly Brachydactyly Type A4 BDA4 Brachymesophalangy 2 And 5 Brachydactyly Temtamy Type Brachydactyly, Temtamy Type
Vacterl Association	Vater Association Vater Syndrome
Hypospadias	Hypospadias Familial Familial Hypospadias
Brachydactyly, Type A3	Brachydactyly Type A3 BDA3 Brachydactyly-Clinodactyly Brachymesophalangy V Brachymesophalangy 5 Brachydactyly Clinodactyly
Sugarman Brachydactyly	Brachydactyly With Major Proximal Phalangeal Shortening Brachydactyly Of The Hands And Feet With Duplication Of The First Toes Sugarman-Hager-Kulik Syndrome Orofaciodigital Syndrome 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
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Scarlet Fever	Scarlatina Scarlatina Nos
Postinflammatory Pulmonary Fibrosis	Post-Inflammatory Pulmonary Fibrosis
Immunodeficiency 49	IMD49 Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities Immunodeficiency 49, Severe Combined Scid, T-Cell Negative, B-Cell Positive, Nk Cell Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities Severe Combined Immunodeficiency, T-Cell Negative, B-Cell Positive, Nk Cell Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities Scid, T-Cell-Negative, B-Cell-Positive, Nk-Cell-Positive, With Intellectual Disability, Spasticity, And Craniofacial Abnormalities
Turner Syndrome	Monosomy X Gonadal Dysgenesis Turner Type Ullrich-Turner Syndrome Bonnevie-Ullrich Syndrome Karyotype 45, X Genital Dwarfism, Turner Type Gonadal Dysgenesis 45,X Turner'S Syndrome Gonadal Dysgenesis - Turner Monosomy X Syndrome Xo Syndrome Genital Dwarfism 45, X Syndrome Bonnevie-Ulrich Syndrome Chromosome X Monosomy X Schereshevkii Turner Syndrome Turner Varny Syndrome Ts 45,X Syndrome 45,X/46,Xx Syndrome Turners Syndrome Gonadal Dysgenesis, 45,X X0 Syndrome
Anus, Imperforate	Imperforate Anus Anorectal Malformation Anal Atresia Anorectal Malformations Congenital Atresia Of Anus Congenital Or Infantile Occlusion Of Anus Anal Stenosis Arm
Hypertension And Brachydactyly Syndrome	Brachydactyly With Hypertension Bilginturan Syndrome HTNB Brachydactyly-Arterial Hypertension Syndrome Brachydactyly, Type E, With Short Stature And Hypertension Bilginturan Brachydactyly Brachydactyly Type E With Short Stature And Hypertension Type E Brachydactyly With Short Stature And Hypertension Brachydactyly Type E, With Short Stature And Hypertension Hypertension With Brachydactyly
Glaucomatocyclitic Crisis	Posner-Schlossman Syndrome Terrien-Viel Syndrome
Microphthalmia, Syndromic 6	MCOPS6 Microphthalmia And Pituitary Anomalies Microphthalmia With Brain And Digit Anomalies Microphthalmia With Brain And Digit Developmental Anomalies Syndromic Microphthalmia Type 6 Syndromic Microphthalmia 6 Anophthalmia Clinical With Micrognathia Malformed Ears Digital Anomalies And Abnormal External Genitalia Bakrania-Ragge Syndrome Orofacial Cleft 11 Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia Microphthalmia Syndromic 6 Microphthalmia, Syndromic, 6 Clinical Anophthalmia With Micrognathia, Malformed Ears, Digital Anomalies And Abnormal External Genitalia Microphthalmia Syndromic, Type 6
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
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
Holoprosencephaly 5	HPE5 Holoprosencephaly-5 Holoprosencephaly, Type 5
Brachydactyly, Type C	Brachydactyly Type C BDC Brachydactyly Haws Type Brachydactyly, Haws Type Brachydactyly C
Chromosomal Duplication Syndrome
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Murcs Association Mayer-Rokitansky-Kuster-Hauser Syndrome Type 2 Mrkh Syndrome Type 2 Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 MURCS Klippel-Feil Deformity, Conductive Deafness, And Absent Vagina Atypical Mrkh Syndrome Mullerian Duct Aplasia-Renal Dysplasia-Cervical Somite Anomalies Syndrome Mayer-Rokitansky-Kuster-Hauser Syndrome, Type Ii Mrkh, Type Ii Mullerian Duct Aplasia, Unilateral Renal Aplasia, And Cervicothoracic Somite Dysplasia Klippel-Feil Deformity - Conductive Deafness - Absent Vagina Müllerian Aplasia - Renal Aplasia - Cervicothoracic Somite Dysplasia
46,Xy Sex Reversal 8	SRXY8 Male Pseudohermaphroditism Due To Deficiency Of Testicular 17,20-Desmolase Tdd 46,Xy Disorder Of Sex Development Due To Testicular 17,20-Desmolase Deficiency 46xy Sex Reversal 8 46xy Sex Reversal 8, Modifier Of Male Pseudohermaphroditism: Deficiency Of Testicular 17,20-Desmolase
Bone Development Disease
Synostosis
Acrodysostosis	Acrodysplasia Arkless-Graham Syndrome Maroteaux-Malamut Syndrome Nasal Hypoplasia-Peripheral Dysostosis-Intellectual Disability Syndrome Peripheral Dysostosis-Nasal Hypoplasia-Intellectual Disability Syndrome
Greig Cephalopolysyndactyly Syndrome	GCPS Polysyndactyly With Peculiar Skull Shape Polysyndactyly With Peculiars Skull Shape Greig Syndrome Cephalopolysyndactyly Syndrome Greig Cephalo-Poly-Syndactyly Syndrome Cephalopolysyndactyly, Greig Syndrome Aarskog Syndrome
Type 1 Diabetes Mellitus 21	Diabetes Mellitus, Insulin-Dependent, 21 Iddm21 T1D21 Insulin-Dependent Diabetes Mellitus 21
Currarino Syndrome	Currarino Triad Partial Sacral Agenesis With Intact First Sacral Vertebra, Presacral Mass And Anorectal Malformation CURRAS
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
Pallister-Hall Syndrome	PHS Hypothalamic Hamartomas Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly Hypothalamic Hamartoblastoma Syndrome Hamartoma Of The Hypothalamus Pallister Hall Syndrome Hall-Pallister Syndrome Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly Hamartoma, Hypothalamic
Dysostosis	Dysostoses
Chromosome 2q37 Deletion Syndrome	Albright Hereditary Osteodystrophy-Like Syndrome 2q37 Microdeletion Syndrome Brachydactyly-Intellectual Disability Syndrome Deletion 2q37 2q37 Deletion Syndrome Brachydactyly-Mental Retardation Syndrome Bdmr Albright Hereditary Osteodystrophy Type 3 Del(2)(Q37) Monosomy 2q37qter Albright'S Hereditary Osteodystrophy-Like Syndrome Monosomy 2q37 Chromosome Deletion Syndrome 2q37
Anus Disease	Anal Fissure Ulcer Of Anus Anus Diseases Anal Disease Anal Fissure And Fistula Anal Ulcer Fissure In Ano Nontraumatic Tear Of Anus Solitary Anal Ulcer Abnormality Of The Anus Anal Disorders Ulcer Of Anus And Rectum Solitary Ulcer Of Anus Stercoral Ulcer Of Anus
Townes-Brocks Syndrome	Townes Syndrome Renal-Ear-Anal-Radial Syndrome Anus, Imperforate, With Hand, Foot And Ear Anomalies Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome Rear Syndrome Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs Tbs Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs Imperforate Anus With Hand, Foot And Ear Anomalies Anal-Ear-Renal-Radial Malformation Syndrome Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Imperforate Anus-Hand And Foot Anomalies Syndrome Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs
Brachydactyly, Type A1	Brachydactyly Type A1 BDA1 Farabee-Type Brachydactyly Farabee Type Brachydactyly Brachydactyly Farabee Type Brachydactyly, Farabee Type Brachydactyly A1 Brachydactyly
Sacral Defect With Anterior Meningocele	Caudal Regression Syndrome Caudal Regression Sequence Sacral Agenesis Caudal Dysgenesis Syndrome SDAM Caudal Dysplasia Sequence Caudal Dysplasia Sacral Agenesis Syndrome Sacral Regression Syndrome Sacral Defect And Anterior Sacral Meningocele Rudd Klimek Syndrome Sirenomelia
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Esophageal Atresia	Tracheoesophageal Fistula Congenital Atresia Of Esophagus Congenital Imperforate Esophagus Imperforate Esophagus Oesophageal Atresia Te Fistula Tef Tracheoesophageal Fistula With Or Without Esophageal Atresia
Congenital Central Hypoventilation Syndrome	Cchs Haddad Syndrome Ondine Curse Ondine Syndrome Congenital Central Hypoventilation Congenital Central Alveolar Hypoventilation Syndrome Congenital Failure Of Autonomic Control Ondine'S Curse Primary Alveolar Hypoventilation Ondine-Hirschsprung Disease Central Congenital Hypoventilation Syndrome Congenital Ondine Curse Idiopathic Congenital Central Alveolar Hypoventilation Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome Ondine-Hirschsprung Syndrome

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06326	HOXD13 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	HOXD13	VGNC	VGNC:58382
Mus musculus	HOXD13	MGD	MGI:96205
Felis catus	HOXD13	VGNC	VGNC:67633
Rattus norvegicus	HOXD13	RGD	RGD:1308417
Others	HOXD13	NCBI