Property Summary

NCBI Gene PubMed Count 12
PubMed Score 3.78
PubTator Score 2.58

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
posterior fossa group B ependymoma 3.100 0.000
osteosarcoma 1.144 0.007
atypical teratoid/rhabdoid tumor 1.300 0.000
active Crohn's disease 1.353 0.008
nasopharyngeal carcinoma -2.200 0.000
Breast cancer -1.100 0.000
ovarian cancer 1.300 0.001

Synonym

Accession Q9H6L2 A0JLU1 A6NDZ6 B3KU85 G5E9E3 Q6P450 Q6UWW5
Symbols MKS11
JBTS20
ALYE870
PRO1886

Gene

Gene RIF (3)

PMID Text
25869670 Tmem231 is critical for organizing the Meckel syndrome complex and controlling ciliary composition, defects in which cause OFD3 and MKS.
23349226 TMEM231 represents a novel MKS locus. The very recent identification of TMEM231 mutations in Joubert syndrome supports the growing appreciation of the overlap in the molecular pathogenesis between these two ciliopathies.
23012439 mutations in TMEM231 cause JBTS, reinforcing the relationship between this condition and the disruption of the barrier at the ciliary transition zone.

AA Sequence

MALYELFSHPVERSYRAGLCSKAALFLLLAAALTYIPPLLVAFRSHGFWLKRSSYEEQPTVRFQHQVLLV      1 - 70
ALLGPESDGFLAWSTFPAFNRLQGDRLRVPLVSTREEDRNQDGKTDMLHFKLELPLQSTEHVLGVQLILT     71 - 140
FSYRLHRMATLVMQSMAFLQSSFPVPGSQLYVNGDLRLQQKQPLSCGGLDARYNISVINGTSPFAYDYDL    141 - 210
THIVAAYQERNVTTVLNDPNPIWLVGRAADAPFVINAIIRYPVEVISYQPGFWEMVKFAWVQYVSILLIF    211 - 280
LWVFERIKIFVFQNQVVTTIPVTVTPRGDLCKEHLS                                      281 - 316
//

Text Mined References (13)

PMID Year Title
26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
25869670 2015 TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
25416956 2014 A proteome-scale map of the human interactome network.
25086665 2014 Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
23349226 2013 Mutations in TMEM231 cause Meckel-Gruber syndrome.
23012439 2012 Mutations in TMEM231 cause Joubert syndrome in French Canadians.
22179047 2011 A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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