Transmembrane Protein 67

Alternative Names

  • TMEM67
  • MKS3 Gene
  • MKS3
  • Meckelin
Back to search Result
OMIM Number

609884

NCBI Gene ID

91147

Uniprot ID

Q5HYA8

Length

77,806 

No. of Exons

35

No. of isoforms

2

Protein Name

Meckelin

Molecular Mass

111745

Amino Acid Count

995

Genomic Location

chr8:93,754,844-93,832,649

Gene Map Locus
8q21.13-q22.1

Description

Transmembrane protein 67 (TMEM67), also known as Meckelin, encodes ciliary protein. It is likely implicated as a membrane receptor involved in signaling events during development and plays, with MKS1 gene, important roles in ciliogenesis, TMEM67 is most likely required for normal ciliary sensory signaling.

TMEM67 is expressed in all adult and fetal tissue with higher expression in embryonic adrenal gland, brain, kidney, lung and spinal cord. It localizes to primary cilia of the epithelial cells. Meckelin was predicted to contain a signal peptide, at least two cysteine-rich repeats, and a 490-residue extracellular region with four N-linked glycosylated sites, followed by seven transmembrane domains and a 30-residue cytoplasmic tail.

Mutations in the TMEM67 gene cause Meckel syndrome type 3. In addition, it was also identified that mutations in the TMEM67 gene occurred in patients affected with Joubert syndrome (JS), thus leading to define this gene as a sixth JS locus (JBTS6).

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_153704.5:c.1065+1delGPalestinechr8:93786270Likely PathogenicLikely PathogenicMeckel Syndrome, Type 3NG_009190.1:g.31902delG; NM_153704.5:c.1065+1delG56763
NM_153704.5:c.1336G>CMoroccoNC_000008.11:g.93786270G>CLikely PathogenicLikely PathogenicMeckel Syndrome, Type 3NG_009190.1:g.36427G>C; NM_153704.5:c.1336G>C; NP_714915.3:p.Asp446His38683418456766
NM_153704.5:c.1413-2A>GSaudi Arabiachr8:93787842Likely Pathogenic, PathogenicLikely Pathogenic, PathogenicMeckel Syndrome, Type 3NG_009190.1:g.37999A>G; NM_153704.5:c.1413-2A>G786205608191259
NM_153704.5:c.1575+53G>AMauritaniachr8:93791372Benign, Likely BenignNG_009190.1:g.41529G>A; NM_153704.5:c.1575+53G>A73694955
NM_153704.5:c.1675-109_1675-108insTTunisiaChr8:93795300-93795301Benign, Likely BenignNG_009190.1:g.45457_45458insT; NM_153704.5:c.1675-109_1675-108insT
NM_153704.5:c.2439G>AMoroccoNC_000008.11:g.93804878G>APathogenicLikely PathogenicMeckel Syndrome, Type 3NG_009190.1:g.55035G>A; NM_153704.5:c.2439G>A; NP_714915.3:p.Ala813=2017915861252093
NM_153704.5:c.2952A>GMoroccoNC_000008.11:g.93816416A>GBenign, Likely Benign, Uncertain SignificanceBenign, Likely BenignNG_009190.1:g.66573A>G; NM_153704.5:c.2952A>G; NP_714915.3:p.Ala984=115967793262749
NM_153704.5:c.383_384delACOmanchr8:93758553-93758554Likely Pathogenic, PathogenicLikely Pathogenic, PathogenicMeckel Syndrome, Type 3NG_009190.1:g.8710_8711delAC; NM_153704.5:c.383_384delAC; NP_714915.3:p.His128Leufs3868342001365
NM_153704.5:c.507-19T>CLebanonchr8:93765387Benign, Likely BenignBenign, Likely BenignNG_009190.1:g.15544T>C; NM_153704.5:c.507-19T>C138589757262754
NM_153704.5:c.725A>GUnited Arab EmiratesNC_000008.11:g.93780603A>GLikely Pathogenic, PathogenicPathogenicJoubert Syndrome 6NG_009190.1:g.30760A>G; NM_153704.5:c.725A>G; NP_714915.3:p.Asn242Ser775883520216826
NM_153704.6:c.2306delArab; Saudi ArabiaNC_000008.11:g.93803668delPathogenicLikely Pathogenic, PathogenicMeckel Syndrome, Type 3NG_009190.1:g.53825del; NM_153704.6:c.2306del; NP_714915.3:p.Leu769TyrfsTer41252092
NM_153704.6:c.2707G>CSaudi ArabiaNC_000008.11:g.93809830G>CLikely PathogenicLikely PathogenicJoubert Syndrome 6NG_009190.1:g.59987G>C; NM_153704.6:c.2707G>C; NP_714915.3:p.Glu903Gln886039810266099
NM_153704.6:c.457T>GSaudi Arabiachr8:93763892Likely Pathogenic, PathogenicMeckel Syndrome, Type 3NG_009190.1:g.14049T>G; NM_153704.6:c.457T>G; NP_714915.3:p.Cys153Gly
NM_153704.6:c.739C>GSaudi ArabiaNC_000008.11:g.93780617C>GLikely PathogenicPathogenicJoubert Syndrome 6NG_009190.1:g.30774C>G; NM_153704.6:c.739C>G; NP_714915.3:p.Gln247Glu786205592191229
© CAGS 2024. All rights reserved.