• Gene id: 91147

Gene Summary

• Gene Symbol: TMEM67   Gene   UCSC   Ensembl
• Aliases: JBTS6, MECKELIN, MKS3, NPHP11, TNEM67
• Gene name: transmembrane protein 67
• Alternate names: meckelin, meckel syndrome type 3 protein,
• Gene location: 8q22.1 (93754843: 93832652)     Exons: 35     NC_000008.11
• Gene summary(Entrez): The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms hav
• OMIM: 609884

Protein Summary

• Protein general information: Q5HYA8  
  • Name: Meckelin (Meckel syndrome type 3 protein) (Transmembrane protein 67)
  • Length: 995  
  • Mass: 111745
  • Tissue specificity: Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord. {ECO
• Sequence:

  MATRGGAGVAMAVWSLLSARAVTAFLLLFLPRFLQAQTFSFPFQQPEKCDNNQYFDISALSCVPCGANQRQDARG
  TSCVCLPGFQMISNNGGPAIICKKCPENMKGVTEDGWNCISCPSDLTAEGKCHCPIGHILVERDINGTLLSQATC
  ELCDGNENSFMVVNALGDRCVRCEPTFVNTSRSCACSEPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEW
  FAKYLQSSAAACWVYANLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFENTAGLSTVHSISFWRQNLPWLFYG
  DQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRGNFLKWQTLEGGVLQLCPDTETRLNAAYSFGTTYQ
  QNCEIPISKILIDFPTPIFYDVYLEYTDENQHQYILAVPVLNLNLQHNKIFVNQDSNSGKWLLTRRIFLVDAVSG
  RENDLGTQPRVIRVATQISLSVHLVPNTINGNIYPPLITIAYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTD
  IALGVLGGLAVLASLLKTAGWKRRIGSPMIDLQTVVKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLL
  PMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVFFIDWERPKGKVLKAVEGEGGVRSATVPVSIWRTYFVAN
  EWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNPPSYIAPYSCILRYAVSAALWLAIGIIQVVF
  FAVFYERFIEDKIRQFVDLCSMSNISVFLLSHKCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLCSQRGLVPN
  TDGQTFEIAISNQMRQHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKL
  LLERILGMEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILASFLTYLQQEIFRYIR
  NTVGQKNLASKTLVDQRFLI

• Structural information:
  • Interpro: IPR009030  IPR019170  
  • STRING: ENSP00000389998
• Other Databases: GeneCards:  TMEM67  Malacards:  TMEM67

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030659	cytoplasmic vesicle membrane	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0060170	ciliary membrane	IDA	cellular component
GO:0051082	unfolded protein binding	IPI	molecular function
GO:0060271	cilium assembly	IMP	biological process
GO:0031005	filamin binding	IPI	molecular function
GO:0060271	cilium assembly	ISS	biological process
GO:0036038	MKS complex	ISS	cellular component
GO:0030433	ubiquitin-dependent ERAD pathway	IMP	biological process
GO:0010826	negative regulation of centrosome duplication	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060271	cilium assembly	IEA	biological process
GO:0010826	negative regulation of centrosome duplication	IEA	biological process
GO:0036038	MKS complex	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0060170	ciliary membrane	TAS	cellular component
GO:0060170	ciliary membrane	TAS	cellular component
GO:0060170	ciliary membrane	TAS	cellular component
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0035869	ciliary transition zone	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Nephronophthisis	KEGG:H00537
Meckel syndrome	KEGG:H00261
COACH syndrome	KEGG:H01001
Joubert syndrome	KEGG:H00530
Nephronophthisis	KEGG:H00537
Meckel syndrome	KEGG:H00261
COACH syndrome	KEGG:H01001
Meckel syndrome 3	PMID:16415887
Joubert syndrome	PMID:17160906
Nephronophthisis	PMID:19508969
Nephronophthisis	PMID:20607301
COACH syndrome	PMID:19574260
Bardet-Biedl syndrome	PMID:18327255
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881