ENSG00000171202


Homo sapiens

Features
Gene ID: ENSG00000171202
  
Biological name :TMEM126A
  
Synonyms : Q9H061 / TMEM126A / transmembrane protein 126A
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q14.1
Gene start: 85647967
Gene end: 85656547
  
Corresponding Affymetrix probe sets: 223334_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000434357
Ensembl peptide - ENSP00000436723
Ensembl peptide - ENSP00000436590
Ensembl peptide - ENSP00000306887
Ensembl peptide - ENSP00000431993
NCBI entrez gene - 84233     See in Manteia.
OMIM - 612988
RefSeq - NM_032273
RefSeq - NM_001244735
RefSeq Peptide - NP_001231664
RefSeq Peptide - NP_115649
swissprot - Q9H061
swissprot - E9PIH8
swissprot - E9PI90
Ensembl - ENSG00000171202
  
Related genetic diseases (OMIM): 612989 - Optic atrophy 7, 612989
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)
Ortholog nameID Species
 tmem126aENSDARG00000014506Danio rerio
 TMEM126AENSGALG00000014066Gallus gallus
 Q9D8Y1ENSMUSG00000030615Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8IUX1 / TMEM126B / transmembrane protein 126BENSG0000017120428


Protein motifs (from Interpro)
Interpro ID Name
 IPR009801  Transmembrane protein 126


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0021554 optic nerve development IMP
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005743 mitochondrial inner membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0003674 molecular_function ND


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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]
Show

 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
Show

 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
Show

 HP:0000505 Impaired vision 
Show

 HP:0000543 Pale optic disks 
Show

 HP:0000603 Central scotoma 
Show

 HP:0000648 Optic atrophy 
Show

 HP:0000666 Nystagmus, horizontal 
Show

 HP:0001133 Constricted visual fields 
Show

 HP:0001639 Hypertrophic cardiomyopathy 
Show

 HP:0003828 Variable expressivity 
Show

 HP:0007641 Secondary dyschromatopsia 
Show

 HP:0007663 Decreased central vision 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr