Basic Information

Symbol
TMEM107
RNA class
mRNA
Alias
Transmembrane Protein 107 JBTS29 MKS13 MGC10744 GRVS638 PRO1268
Location (GRCh38)
17:8172457-8176405
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_183065.4
Sequence length
2263.0 nt
GC content
0.4640

Transcripts

ID Sequence Length GC content
NM_001351278.2 NCBI
GUUCGUCUAGAUUUGUCGGCUUGCGGGGAGACUUCAGGAGUCGCUGUCU… 2260 nt 0.4655
NM_001351279.2 NCBI
GUUCGUCUAGAUUUGUCGGCUUGCGGGGAGACUUCAGGAGUCGCUGUCU… 2242 nt 0.4648
NM_001351280.2 NCBI
GUUCGUCUAGAUUUGUCGGCUUGCGGGGAGACUUCAGGAGUCGCUGUCU… 2065 nt 0.4547
NM_032354.5 NCBI
GUUCGUCUAGAUUUGUCGGCUUGCGGGGAGACUUCAGGAGUCGCUGUCU… 2281 nt 0.4647
NM_183065.4 NCBI
GUUCGUCUAGAUUUGUCGGCUUGCGGGGAGACUUCAGGAGUCGCUGUCU… 2263 nt 0.4640
Summary

This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]

Forensic Context

A study in mice demonstrated that the TMEM107 is part of a downregulated ciliary transition zone pathway in female versus male E7.0 embryos, as identified through whole transcriptomic RNA-Seq analysis [Boschen et al. DOI:10.1002/Bdr2.2292].