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This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]
HOXD10 (Homeobox D10) is a Protein Coding gene. Diseases associated with HOXD10 include Vertical Talus, Congenital and Congenital Vertical Talus, Unilateral. Among its related pathways are Proteoglycans in cancer and MicroRNAs in cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is HOXA10.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003682 | chromatin binding | IEA | -- |
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:0036464 | cytoplasmic ribonucleoprotein granule | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | MicroRNAs in cancer | ||
2 | Proteoglycans in cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007338 | single fertilization | IEA | -- |
GO:0007519 | skeletal muscle tissue development | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HOXD10 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HOXD11 30 |
|
||
HOXD10 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | Hoxd10 30 |
|
||
Cow (Bos Taurus) |
Mammalia | HOXD10 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Hoxd10 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HOXD10 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HOXD10 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HOXD10 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hoxd10 30 |
|
||
Str.2493 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68611 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hoxd10a 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
714132 | Benign: not provided | 176,118,976(+) | A/C | SYNONYMOUS_VARIANT | |
775790 | Benign: not provided | 176,118,951(+) | T/C | INTRON_VARIANT | |
808888 | Uncertain Significance: not provided | 176,117,125(+) | G/A | MISSENSE_VARIANT | |
811018 | Benign: not specified | 176,117,597(+) | G/A | INTRON_VARIANT | |
811668 | Likely Benign: not specified | 176,117,262(+) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
vertical talus, congenital |
|
|
congenital vertical talus, unilateral |
|
|
congenital vertical talus, bilateral |
|
|
charcot-marie-tooth disease |
|
|
brachydactyly-syndactyly syndrome |
|
|