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Aliases for TMEM67 Gene

Aliases for TMEM67 Gene

  • Transmembrane Protein 67 2 3 4
  • MKS3 3 4 6
  • Meckel Syndrome Type 3 Protein 3 4
  • NPHP11 3 6
  • JBTS6 3 6
  • Meckel Syndrome, Type 3 2
  • Meckelin 2
  • MECKELIN 3
  • TNEM67 3

External Ids for TMEM67 Gene

Previous Symbols for TMEM67 Gene

  • MKS3

Summaries for TMEM67 Gene

Entrez Gene Summary for TMEM67 Gene

  • 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 have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]

GeneCards Summary for TMEM67 Gene

TMEM67 is a Protein Coding gene. Diseases associated with TMEM67 include nephronophthisis 11 and joubert syndrome 6. GO annotations related to this gene include unfolded protein binding and filamin binding.

UniProtKB/Swiss-Prot for TMEM67 Gene

  • Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC).

Gene Wiki entry for TMEM67 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM67 Gene

Genomics for TMEM67 Gene

Genomic Location for TMEM67 Gene

Start:
93,754,844 bp from pter
End:
93,819,234 bp from pter
Size:
64,391 bases
Orientation:
Plus strand

Genomic View for TMEM67 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMEM67 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM67 Gene

Regulatory Elements for TMEM67 Gene

Proteins for TMEM67 Gene

  • Protein details for TMEM67 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5HYA8-MKS3_HUMAN
    Recommended name:
    Meckelin
    Protein Accession:
    Q5HYA8
    Secondary Accessions:
    • B3KRU5
    • B3KT47
    • G5E9H2
    • Q3ZCX3
    • Q7Z5T8
    • Q8IZ06

    Protein attributes for TMEM67 Gene

    Size:
    995 amino acids
    Molecular mass:
    111745 Da
    Quaternary structure:
    • Part of the tectonic-like complex (also named B9 complex) (By similarity). Interacts with DNAJB9, DNAJC10 and mutated SFTPC. Interacts with SYNE2 during the early establishment of cell polarity. Interacts (via C-terminus) with FLNA.
    SequenceCaution:
    • Sequence=AAH32835.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG52959.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM67 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM67 Gene

Proteomics data for TMEM67 Gene at MOPED

Post-translational modifications for TMEM67 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn242

No data available for DME Specific Peptides for TMEM67 Gene

Domains for TMEM67 Gene

Protein Domains for TMEM67 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with TMEM67: view

No data available for Gene Families and UniProtKB/Swiss-Prot for TMEM67 Gene

Function for TMEM67 Gene

Molecular function for TMEM67 Gene

UniProtKB/Swiss-Prot Function: Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC).

Gene Ontology (GO) - Molecular Function for TMEM67 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17185389
GO:0031005 filamin binding IPI 22121117
GO:0051082 unfolded protein binding IPI 19815549
genes like me logo Genes that share ontologies with TMEM67: view
genes like me logo Genes that share phenotypes with TMEM67: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TMEM67 Gene

Localization for TMEM67 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM67 Gene

Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM67 Gene COMPARTMENTS Subcellular localization image for TMEM67 gene
Compartment Confidence
cytoskeleton 5
endoplasmic reticulum 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for TMEM67 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IDA 19815549
GO:0005813 centrosome IDA 17185389
GO:0016021 integral component of membrane IEA --
GO:0030659 cytoplasmic vesicle membrane IDA 19815549
GO:0036038 TCTN-B9D complex ISS --
genes like me logo Genes that share ontologies with TMEM67: view

Pathways for TMEM67 Gene

SuperPathways for TMEM67 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM67 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
GO:0010826 negative regulation of centrosome duplication IMP 19515853
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IMP 19815549
GO:0042384 cilium assembly IMP 19515853
GO:0060271 cilium morphogenesis ISS --
genes like me logo Genes that share ontologies with TMEM67: view

No data available for Pathways by source for TMEM67 Gene

Transcripts for TMEM67 Gene

Unigene Clusters for TMEM67 Gene

Transmembrane protein 67:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM67 Gene

No ASD Table

Relevant External Links for TMEM67 Gene

GeneLoc Exon Structure for
TMEM67
ECgene alternative splicing isoforms for
TMEM67

Expression for TMEM67 Gene

mRNA expression in normal human tissues for TMEM67 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMEM67 Gene

SOURCE GeneReport for Unigene cluster for TMEM67 Gene Hs.116240

mRNA Expression by UniProt/SwissProt for TMEM67 Gene

Q5HYA8-MKS3_HUMAN
Tissue specificity: Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord.
genes like me logo Genes that share expressions with TMEM67: view

Orthologs for TMEM67 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM67 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM67 36
  • 99.77 (n)
  • 99.8 (a)
TMEM67 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM67 36
  • 90.85 (n)
  • 89.55 (a)
TMEM67 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM67 36
  • 90.66 (n)
  • 90.09 (a)
TMEM67 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem67 36
  • 85.01 (n)
  • 85.38 (a)
Tmem67 16
Tmem67 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM67 37
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 86 (a)
OneToMany
-- 37
  • 83 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tmem67 36
  • 83.37 (n)
  • 84.17 (a)
chicken
(Gallus gallus)
Aves TMEM67 36
  • 71.77 (n)
  • 71.04 (a)
TMEM67 37
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 49 (a)
OneToMany
-- 37
  • 70 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem67 36
  • 64.91 (n)
  • 63.16 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.18776 36
tmem67 36
  • 61.65 (n)
  • 60.04 (a)
tmem67 37
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002548 36
  • 42.25 (n)
  • 33.47 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15923 36
  • 40.7 (n)
  • 28.94 (a)
CG15923 37
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mks-3 36
  • 46.11 (n)
  • 34.52 (a)
mks-3 37
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10752 37
  • 41 (a)
OneToOne
Species with no ortholog for TMEM67:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMEM67 Gene

ENSEMBL:
Gene Tree for TMEM67 (if available)
TreeFam:
Gene Tree for TMEM67 (if available)

Paralogs for TMEM67 Gene

genes like me logo Genes that share paralogs with TMEM67: view

No data available for Paralogs for TMEM67 Gene

Variants for TMEM67 Gene

Sequence variations from dbSNP and Humsavar for TMEM67 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs3097418 -- 93,770,503(-) aactg(C/T)agtgt intron-variant
rs3097424 -- 93,814,630(+) cccac(C/T)agacc intron-variant
rs3097426 -- 93,783,496(-) AAAGA(A/C)AAGAA intron-variant
rs3097427 other 93,782,392(-) AAGCT(A/G)CAGCA intron-variant
rs3097428 -- 93,778,450(-) tcatc(A/G)atgct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM67 Gene

Variant ID Type Subtype PubMed ID
dgv7834n71 CNV Loss 21882294
nsv831399 CNV Loss 17160897
nsv6309 CNV Insertion 18451855
esv1003815 CNV Insertion 20482838
esv1575991 CNV Insertion 17803354

Relevant External Links for TMEM67 Gene

HapMap Linkage Disequilibrium report
TMEM67
Human Gene Mutation Database (HGMD)
TMEM67

Disorders for TMEM67 Gene

(5) OMIM Diseases for TMEM67 Gene (609884)

UniProtKB/Swiss-Prot

MKS3_HUMAN
  • Note=TMEM67 mutations result in ciliary dysfunction leading to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and nephronophtisis among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome.
  • Meckel syndrome 3 (MKS3) [MIM:607361]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269 PubMed:16415887, ECO:0000269 PubMed:19466712}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Joubert syndrome 6 (JBTS6) [MIM:610688]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269 PubMed:17160906, ECO:0000269 PubMed:19508969, ECO:0000269 PubMed:21633164}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Bardet-Biedl syndrome (BBS) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:18327255}. Note=The gene represented in this entry may act as a disease modifier. TMEM67 variations may influence the expression of Bardet-Biedl syndrome in patients who have causative mutations in other genes. Heterozygosity for a complex mutation in the TMEM67 gene coding for a protein with 2 in cis changes, and homozygosity for a truncating mutation of the CEP290 gene has been found in a patient with Bardet-Biedl syndrome 14.
  • COACH syndrome (COACHS) [MIM:216360]: A disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. {ECO:0000269 PubMed:19058225, ECO:0000269 PubMed:19574260}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Nephronophthisis 11 (NPHP11) [MIM:613550]: A disorder characterized by the association of nephronophthisis with hepatic fibrosis. Nephronophthisis is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical features are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. {ECO:0000269 PubMed:19508969}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TMEM67

GeneTests
TMEM67
GeneReviews
TMEM67
Human Genome Epidemiology (HuGE) Navigator
TMEM67
genes like me logo Genes that share disorders with TMEM67: view

Publications for TMEM67 Gene

  1. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). (PMID: 19508969) Otto E.A. … Hildebrandt F. (J. Med. Genet. 2009) 2 3 4 23
  2. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. (PMID: 19058225) Brancati F. … Valente E.M. (Hum. Mutat. 2009) 3 4 23
  3. The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. (PMID: 17185389) Dawe H.R. … Johnson C.A. (Hum. Mol. Genet. 2007) 3 4 23
  4. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). (PMID: 19574260) Doherty D. … Glass I.A. (J. Med. Genet. 2010) 3 4 23
  5. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. (PMID: 16415887) Smith U.M. … Johnson C.A. (Nat. Genet. 2006) 2 3 4

Products for TMEM67 Gene

  • antibodies-online peptides for TMEM67
  • antibodies-online antibodies for TMEM67
  • antibodies-online kits for TMEM67

Sources for TMEM67 Gene

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