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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. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. [provided by RefSeq, Jul 2008]
HOXA2 (Homeobox A2) is a Protein Coding gene. Diseases associated with HOXA2 include Microtia, Hearing Impairment, And Cleft Palate and Microtia. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Developmental Biology. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is HOXB2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA,IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
2 | Developmental Biology |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,IBA | 21873635 |
GO:0001709 | cell fate determination | IEA | -- |
GO:0002076 | osteoblast development | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HOXA2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HOXA2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HOXA2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hoxa2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hoxa2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HOXA2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | HOXA2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HOXA2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HOXA2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hoxa2 30 |
|
||
Str.13271 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | hoxa2b-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hoxa2b 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | pb 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
908609 | Uncertain Significance: Microtia, hearing impairment, and cleft palate | 27,101,150(-) | G/T | MISSENSE_VARIANT | |
908610 | Uncertain Significance: Microtia, hearing impairment, and cleft palate | 27,102,149(-) | T/C | MISSENSE_VARIANT | |
908611 | Uncertain Significance: Microtia, hearing impairment, and cleft palate | 27,102,163(-) | G/A | MISSENSE_VARIANT | |
909466 | Uncertain Significance: Microtia, hearing impairment, and cleft palate | 27,102,168(-) | C/T | SYNONYMOUS_VARIANT | |
909467 | Uncertain Significance: Microtia, hearing impairment, and cleft palate | 27,102,300(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1094n67 | CNV | gain | 20364138 |
dgv11244n54 | CNV | loss | 21841781 |
esv3612654 | CNV | loss | 21293372 |
nsv606464 | CNV | loss | 21841781 |
nsv7393 | OTHER | inversion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
microtia, hearing impairment, and cleft palate |
|
|
microtia |
|
|
sacrum chordoma |
|
|
clivus chordoma |
|
|
hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate |
|
|