HOXD13
entrez
3239
canonical
uniprot
P35453
canonical
ensembl
ENSG00000128714
resolver
ensp
ENSP00000376322
resolver
enst
ENST00000392539
resolver
genesymbol
HOXD13
resolver
genesymbol_syn
HOX4I
resolver
hgnc
HGNC:5136
resolver
uniprot_entry
HXD13_HUMAN
resolver
amino_acid_sequence
MSRAGSWDMDGLRADGGGAGGAPASSSSSSVAAAAASGQCRGFLSAPVFAGTHSGRAAAAAAAAAAAAAAASGFAYPGTSERTGSSSSSSSSAVVAARPEAPPAKECPAPTPAAAAAAPPSAPALGYGYHFGNGYYSCRMSHGVGLQQNALKSSPHASLGGFPVEKYMDVSGLASSSVPANEVPARAKEVSFYQGYTSPYQHVPGYIDMVSTFGSGEPRHEAYISMEGYQSWTLANGWNSQVYCTKDQPQGSHFWKSSFPGDVALNQPDMCVYRRGRKKRVPYTKLQLKELENEYAINKFINKDKRRRISAATNLSERQVTIWFQNRRVKDKKIVSKLKDTVS
uniprot
proteins
disease_involvement
DISEASE: Synpolydactyly 1 (SPD1) [MIM:186000]: Limb malformation that shows a characteristic manifestation in both hands and feet. This condition is inherited as an autosomal dominant trait with reduced penetrance. {ECO:0000269|PubMed:12414828, ECO:0000269|PubMed:16222680, ECO:0000269|PubMed:24789103, ECO:0000269|PubMed:26581570, ECO:0000269|PubMed:8817328}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Brachydactyly D (BDD) [MIM:113200]: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type D is characterized by short and broad terminal phalanges of the thumbs and big toes. {ECO:0000269|PubMed:12649808}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Syndactyly 5 (SDTY5) [MIM:186300]: A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. The characteristic finding in SDTY5 is the presence of an associated metacarpal and metatarsal fusion. The metacarpals and metatarsals most commonly fused are the 4th and 5th or the 3rd and 4th. Soft tissue syndactyly usually affects the 3rd and 4th fingers and the 2nd and 3rd toes. {ECO:0000269|PubMed:17236141}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Brachydactyly-syndactyly syndrome (BDSD) [MIM:610713]: A disease characterized by generalized shortening of the hands and feet, broad and short distal phalanges of the thumbs, and cutaneous syndactyly of toes 2 and 3. The limb phenotypes observed in this syndrome overlap those of brachydactyly types A4, D, E and syndactyly type 1. {ECO:0000269|PubMed:17236141}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Brachydactyly E1 (BDE1) [MIM:113300]: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. Brachydactyly type E1 is characterized by shortening limited to fourth metacarpals and/or metatarsals. {ECO:0000269|PubMed:12649808, ECO:0000269|PubMed:24789103}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: VACTERL association (VACTERL) [MIM:192350]: VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects. {ECO:0000269|PubMed:19006232}. Note=The gene represented in this entry may be involved in disease pathogenesis.; DISEASE: Brachydactyly-syndactyly-oligodactyly syndrome (BDSDO) [MIM:610713]: A syndrome characterized by a complex brachydactyly-syndactyly-oligodactyly phenotype. Limb anomalies include reduced number of digits that are severely shortened, camptodactyly, syndactyly, absence of terminal phalanges of the thumbs, and absence of nails of the thumbs and toes. {ECO:0000269|PubMed:23995701}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sequence-specific transcription factor that binds gene promoters and activates their transcription (PubMed:24789103). Part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis (By similarity). {ECO:0000250|UniProtKB:P24344, ECO:0000269|PubMed:24789103}.
uniprot
proteins
mass_dalton
36101
uniprot
proteins
protein_family
Abd-B homeobox family
uniprot
proteins
pubmed
12414828
uniprot
proteins
pubmed
12649808
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16222680
uniprot
proteins
pubmed
1675198
uniprot
proteins
pubmed
17236141
uniprot
proteins
pubmed
19006232
uniprot
proteins
pubmed
23995701
uniprot
proteins
pubmed
24789103
uniprot
proteins
pubmed
26581570
uniprot
proteins
pubmed
8614804
uniprot
proteins
pubmed
8817328
uniprot
proteins
sequence_length
343
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:24789103}.
uniprot
proteins