Property Summary

NCBI Gene PubMed Count 8
PubMed Score 2.63
PubTator Score 1.50

Knowledge Summary


No data available


  Disease Sources (2)

Disease Target Count P-value
posterior fossa group B ependymoma 1530 8.0411039066571E-9
tuberculosis 1563 1.36283219813122E-7
nasopharyngeal carcinoma 1056 2.69543820454058E-5
medulloblastoma, large-cell 6234 0.00305207795955709
Disease Target Count Z-score Confidence
Orofaciodigital syndrome 19 5.37 2.7
Polydactyly 93 4.062 2.0
Meckel syndrome 48 3.948 2.0


  Differential Expression (4)

Disease log2 FC p
posterior fossa group B ependymoma 1.800 0.000
medulloblastoma, large-cell -1.800 0.003
tuberculosis 1.700 0.000
nasopharyngeal carcinoma -1.100 0.000


Accession Q6UX40 A0PJV7 Q6NSE3 Q6ZRX9 Q96T82
Symbols GRVS638


  Ortholog (9)

Pathway (1)

Gene RIF (2)

26123494 This study shows that known MKS loci account for the overwhelming majority of MKS cases but additional loci exist including MKS13 caused by TMEM107 mutation.
19727342 TMEM107 (2810049P21Rik) is a strong candidate gene for central areolar choroidal dystrophy, CACD (human 17p13). Conclusion is based on a massive expression data set for mouse (103 strains in and joint analysis of RetNet database.

AA Sequence


Text Mined References (9)

PMID Year Title
26595381 2016 TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
26123494 2015 Identification of a novel MKS locus defined by TMEM107 mutation.
19727342 2009 Gene expression in the mouse eye: an online resource for genetics using 103 strains of mice.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.