Homo sapiens Gene: TMEM138
Summary
InnateDB Gene IDBG-50116.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMEM138
Gene Name transmembrane protein 138
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000149483
Encoded Proteins
transmembrane protein 138
transmembrane protein 138
transmembrane protein 138
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:61362001-61369509
Strand Forward strand
Band q12.2
Transcripts
ENST00000381787 ENSP00000371206
ENST00000278826 ENSP00000278826
ENST00000451389
ENST00000423772
ENST00000507563
ENST00000534963
ENST00000543594
ENST00000542946 ENSP00000445792
ENST00000540194
ENST00000545420
ENST00000539776
ENST00000543833
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0042384 cilium assembly
Cellular Component
GO:0005774 vacuolar membrane
GO:0005929 cilium
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt Q9NPI0
TrEMBL J3QSZ6
UniProt Splice Variant
Entrez Gene 51524
UniGene Hs.406530
RefSeq NM_016464 XM_006718586
HUGO HGNC:26944
OMIM 614459
CCDS CCDS8005
HPRD
IMGT
EMBL AF151030 AF151032 AK303219 AL832879 AP003108 BC005201
GenPept AAF36116 AAF36118 AAH05201 BAG64306 CAI46174
RNA Seq Atlas 51524