Property Summary

NCBI Gene PubMed Count 26
Grant Count 6
R01 Count 5
Funding $717,635.69
PubMed Score 27.23
PubTator Score 27.52

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q5HYA8 B3KRU5 B3KT47 G5E9H2 Q3ZCX3 Q7Z5T8 Q8IZ06
Symbols MKS3
JBTS6
NPHP11
TNEM67
MECKELIN

Gene

Gene RIF (16)

PMID Text
23393159 The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.
21068128 Observational study of gene-disease association. (HuGE Navigator)
20232449 mutation analysis of TMEM67 in Joubert syndrome and related disorders cases and Meckel syndrome fetuses; identification of 20 novel mutations; review of published mutations and discussion of genotype-phenotype correlates
19815549 Data show that knockdown of MKS3 inhibited degradation of mutant SP-C.
19574260 Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L.
19515853 Kidney tissue and cells from MKS1 and MKS3 patients showed defects in centrosome and cilia number, including multi-ciliated respiratory-like epithelia, and longer cilia.
19508969 Missense mutations within the MKS3 gene are associated with nephronophthisis with liver fibrosis.
19058225 Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%).
18327255 Mutations in MKS3 is associated with Bardet-Biedl syndrome
17397051 Observational study of genotype prevalence. (HuGE Navigator)
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AA Sequence

MATRGGAGVAMAVWSLLSARAVTAFLLLFLPRFLQAQTFSFPFQQPEKCDNNQYFDISALSCVPCGANQR      1 - 70
QDARGTSCVCLPGFQMISNNGGPAIICKKCPENMKGVTEDGWNCISCPSDLTAEGKCHCPIGHILVERDI     71 - 140
NGTLLSQATCELCDGNENSFMVVNALGDRCVRCEPTFVNTSRSCACSEPNILTGGLCFSSTGNFPLRRIS    141 - 210
AARYGEVGMSLTSEWFAKYLQSSAAACWVYANLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFENTAG    211 - 280
LSTVHSISFWRQNLPWLFYGDQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRGNFLKWQTLE    281 - 350
GGVLQLCPDTETRLNAAYSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEYTDENQHQYILAVPVLNLNL    351 - 420
QHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGTQPRVIRVATQISLSVHLVPNTINGNIYPPLITI    421 - 490
AYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASLLKTAGWKRRIGSPMIDLQTV    491 - 560
VKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLLPMPIQEERFVTYVGCAFALKALQFLHKLIS    561 - 630
QITIDVFFIDWERPKGKVLKAVEGEGGVRSATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLE    631 - 700
VVGFKNLALMDSSSSLSRNPPSYIAPYSCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLC    701 - 770
SMSNISVFLLSHKCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLCSQRGLVPNTDGQTFEIAISNQMR    771 - 840
QHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKLLLERILGMEF    841 - 910
MEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILASFLTYLQQEIFRYIRNTVGQ    911 - 980
KNLASKTLVDQRFLI                                                           981 - 995
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Text Mined References (28)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26595381 2016 TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
23393159 2013 The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.
22121117 2012 A meckelin-filamin A interaction mediates ciliogenesis.
21633164 2011 Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
21068128 2011 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
20232449 2010 Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
19815549 2009 Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C.
19596800 2009 Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton.
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