Entity Details

Primary name TMEM94
Entity type gene
Source Source Link

Details

PrimaryID9772
RefseqGeneNG_054884
SymbolTMEM94
Nametransmembrane protein 94
Chromosome17
Location17q25.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTMM94_HUMAN

GO terms

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GOName
GO:0016021 integral component of membrane

Diseases

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Disease IDSourceNameDescription
618316 OMIMIntellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF)An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, congenital heart malformations, and facial dysmorphism. Dysmorphic features include triangular face, deep set eyes, broad nasal root and tip and anteverted nostrils, thick arched eye brows, hypertrichosis, pointed chin, and hypertelorism. The disease is caused by variants affecting the gene represented in this entry.

Interactions

14 interactions