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In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008]
HOXA13 (Homeobox A13) is a Protein Coding gene. Diseases associated with HOXA13 include Hand-Foot-Genital Syndrome and Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is HOXC13.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0003677 | DNA binding | TAS | 9020844 |
GO:0043565 | sequence-specific DNA binding | IMP | 23332764 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0045111 | intermediate filament cytoskeleton | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | TAS | 9020844 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HOXA13 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HOXA13 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HOXA13 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Hoxa13 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hoxa13 30 |
|
||
Cow (Bos Taurus) |
Mammalia | HOXA13 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | HOXA13 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HOXA13 31 31 31 |
|
OneToMany | |
LOC100859005 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | HOXA13 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hoxa13 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | hoxa13-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hoxa13b 30 31 |
|
OneToMany | |
hoxa13a 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Abd-B 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
713824 | Benign: not provided | 27,198,363(-) | T/C | SYNONYMOUS_VARIANT | |
720370 | Benign: not provided | 27,199,598(-) | C/T | SYNONYMOUS_VARIANT | |
726530 | Likely Benign: not provided | 27,199,736(-) | C/T | SYNONYMOUS_VARIANT | |
729857 | Likely Benign: not provided | 27,199,503(-) | T/C | MISSENSE_VARIANT | |
731707 | Benign: not provided | 27,199,487(-) | G/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
hand-foot-genital syndrome |
|
|
preaxial deficiency, postaxial polydactyly, and hypospadias |
|
|
gastric cancer |
|
|
hepatocellular carcinoma |
|
|
hypospadias |
|