ENSG00000105996
Homo sapiens | |
Features
| Gene ID: | ENSG00000105996 | | | | | Biological name : | HOXA2 | | | | | Synonyms : | homeobox A2 / HOXA2 / O43364 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 7 | | Strand: | -1 | | Band: | p15.2 | | Gene start: | 27100354 | | Gene end: | 27102811 | | | | | Corresponding Affymetrix probe sets: | 214457_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000222718
NCBI entrez gene - 3199
See in Manteia.
OMIM - 604685
RefSeq - NM_006735
RefSeq Peptide - NP_006726
swissprot - O43364
Ensembl - ENSG00000105996
| | | | | Related genetic diseases (OMIM): | 612290 - ?Microtia, hearing impairment, and cleft palate (AR), 612290 |
This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| | HP:0000410 | Mixed hearing loss | |
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| | HP:0008551 | Underdeveloped ears | |
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Interacting proteins (from Reactome)
No match
0 s.
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