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Aliases for TMEM67 Gene

Aliases for TMEM67 Gene

  • Transmembrane Protein 67 2 3 4 5
  • Meckel Syndrome Type 3 Protein 3 4
  • MKS3 3 4
  • Meckel Syndrome, Type 3 2
  • Meckelin 2
  • MECKELIN 3
  • NPHP11 3
  • TNEM67 3
  • JBTS6 3

External Ids for TMEM67 Gene

Previous HGNC Symbols for TMEM67 Gene

  • MKS3

Previous GeneCards Identifiers for TMEM67 Gene

  • GC08P094837
  • GC08P089974
  • GC08P094768

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 (Transmembrane Protein 67) is a Protein Coding gene. Diseases associated with TMEM67 include coach syndrome and meckel syndrome 3. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. 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

Regulatory Elements for TMEM67 Gene

Promoters for TMEM67 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMEM67 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM67 Gene

Chromosome:
8
Start:
93,754,844 bp from pter
End:
93,832,649 bp from pter
Size:
77,806 bases
Orientation:
Plus strand

Genomic View for TMEM67 Gene

Genes around TMEM67 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM67 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM67 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Glycosylation at Asn 242
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMEM67 Gene

Domains & Families for TMEM67 Gene

Protein Domains for TMEM67 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM67 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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).
genes like me logo Genes that share phenotypes with TMEM67: view

Human Phenotype Ontology for TMEM67 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TMEM67 Gene

MGI Knock Outs for TMEM67:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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:0030659 cytoplasmic vesicle membrane IDA 19815549
genes like me logo Genes that share ontologies with TMEM67: view

Pathways & Interactions for TMEM67 Gene

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

Gene Ontology (GO) - Biological Process for TMEM67 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
genes like me logo Genes that share ontologies with TMEM67: view

No data available for SIGNOR curated interactions for TMEM67 Gene

Drugs & Compounds for TMEM67 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for TMEM67 Gene

This gene is overexpressed in Nasal epithelium (68.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with TMEM67: view

Protein tissue co-expression partners for TMEM67 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TMEM67 Gene

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
  • 100 (a)
OneToOne
TMEM67 35
  • 99.77 (n)
  • 99.8 (a)
cow
(Bos Taurus)
Mammalia TMEM67 35
  • 90.85 (n)
  • 89.55 (a)
TMEM67 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM67 36
  • 89 (a)
OneToOne
TMEM67 35
  • 90.66 (n)
  • 90.09 (a)
mouse
(Mus musculus)
Mammalia Tmem67 16
Tmem67 36
  • 85 (a)
OneToOne
Tmem67 35
  • 85.01 (n)
  • 85.38 (a)
oppossum
(Monodelphis domestica)
Mammalia TMEM67 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 86 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tmem67 35
  • 83.37 (n)
  • 84.17 (a)
chicken
(Gallus gallus)
Aves TMEM67 35
  • 71.77 (n)
  • 71.04 (a)
TMEM67 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 49 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem67 35
  • 64.91 (n)
  • 63.16 (a)
zebrafish
(Danio rerio)
Actinopterygii tmem67 36
  • 58 (a)
OneToOne
Dr.18776 35
tmem67 35
  • 61.65 (n)
  • 60.04 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002548 35
  • 42.25 (n)
  • 33.47 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15923 36
  • 24 (a)
OneToOne
CG15923 35
  • 40.7 (n)
  • 28.94 (a)
worm
(Caenorhabditis elegans)
Secernentea mks-3 35
  • 46.11 (n)
  • 34.52 (a)
mks-3 36
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10752 36
  • 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
VAR_025474 Meckel syndrome 3 (MKS3)
rs3134031 - 93,795,937(+) TGCCA(A/G)TTCAG nc-transcript-variant, reference, missense
VAR_031987 COACH syndrome (COACHS)
VAR_031987 Joubert syndrome 6 (JBTS6)
VAR_031987 Meckel syndrome 3 (MKS3)

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

Variation tolerance for TMEM67 Gene

Residual Variation Intolerance Score: 5.51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.48; 43.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM67 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM67 Gene

Disorders for TMEM67 Gene

MalaCards: The human disease database

(31) MalaCards diseases for TMEM67 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
coach syndrome
  • cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis
meckel syndrome 3
  • meckel syndrome type 3
joubert syndrome 6
  • jbts6
nephronophthisis 11
  • nphp11
tmem67-related joubert syndrome
  • joubert syndrome 6
- elite association - COSMIC cancer census association via MalaCards

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. {ECO:0000269 PubMed:18327255, ECO:0000269 PubMed:21633164}.
  • 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, ECO:0000269 PubMed:26477546}. 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

Human Genome Epidemiology (HuGE) Navigator
TMEM67
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM67
genes like me logo Genes that share disorders with TMEM67: view

No data available for Genatlas for TMEM67 Gene

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 67
  2. 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 23
  3. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. (PMID: 20232449) Iannicelli M. … Valente E.M. (Hum. Mutat. 2010) 3 23
  4. 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 23
  5. 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 23

Products for TMEM67 Gene

Sources for TMEM67 Gene

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