Entity Details

Primary name TMEM138
Entity type gene
Source Source Link

Details

PrimaryID51524
RefseqGeneNG_032581
SymbolTMEM138
Nametransmembrane protein 138
Chromosome11
Location11q12.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-05-11
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTM138_HUMAN

GO terms

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GOName
GO:0005774 vacuolar membrane
GO:0005929 cilium
GO:0016021 integral component of membrane
GO:0060271 cilium assembly

Diseases

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Disease IDSourceNameDescription
614465 OMIMJoubert syndrome 16 (JBTS16)An autosomal recessive disorder characterized by oculomotor apraxia, variable coloboma, and rare kidney involvement. Neuroradiologically, it is characterized by an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and polydactyly. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
TMEM138TMEM17BioGRID, IntAct26638075 details