ENSG00000165462
Homo sapiens | |
Features
| Gene ID: | ENSG00000165462 | | | | | Biological name : | PHOX2A | | | | | Synonyms : | O14813 / paired like homeobox 2a / PHOX2A | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 11 | | Strand: | -1 | | Band: | q13.4 | | Gene start: | 72239077 | | Gene end: | 72245664 | | | | | Corresponding Affymetrix probe sets: | 214609_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000298231
Ensembl peptide - ENSP00000444845
NCBI entrez gene - 401
See in Manteia.
OMIM - 602753
RefSeq - NM_005169
RefSeq Peptide - NP_005160
swissprot - O14813
swissprot - H0YGU5
Ensembl - ENSG00000165462
| | | | | Related genetic diseases (OMIM): | 602078 - Fibrosis of extraocular muscles, congenital, 2, 602078 |
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)
No match
Phenotype (from MGI, Zfin or HPO)
| 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:0000505 | Impaired vision | |
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| | HP:0000577 | Exotropia | |
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| | HP:0000646 | Amblyopia | "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes." [HPO:curators] |
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| | HP:0001488 | Bilateral ptosis | |
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| | HP:0001491 | Congenital fibrosis of extraocular muscles | |
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| | HP:0007936 | Restrictive external ophthalmoplegia | |
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Interacting proteins (from Reactome)
No match
0 s.
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