Basic Information

Symbol
TMEM138
RNA class
mRNA
Alias
Transmembrane Protein 138 HSPC196 JBTS16
Location (GRCh38)
11:61361964-61377890
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_016464.5
Sequence length
1475.0 nt
GC content
0.4773

Transcripts

ID Sequence Length GC content
NM_001330281.2 NCBI
GGAAGCCGGGACGAUGUCCGCAUGACAACCGACGUUGGAGUUUGGAGGU… 1272 nt 0.4693
NM_001410997.1 NCBI
GGAAGCCGGGACGAUGUCCGCAUGACAACCGACGUUGGAGUUUGGAGGU… 926 nt 0.4633
NM_001410998.1 NCBI
GGAAGCCGGGACGAUGUCCGCAUGACAACCGACGUUGGAGUUUGGAGGU… 970 nt 0.4361
NM_001410999.1 NCBI
GGAAGCCGGGACGAUGUCCGCAUGACAACCGACGUUGGAGUUUGGAGGU… 1775 nt 0.5076
NM_016464.5 NCBI
GGAAGCCGGGACGAUGUCCGCAUGACAACCGACGUUGGAGUUUGGAGGU… 1475 nt 0.4773
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]

Forensic Context

No relevant information is available at the moment.