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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
  • Meckelin 2 3
  • MKS3 3 4
  • Meckel Syndrome, Type 3 2
  • 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 Joubert Syndrome 6. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (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

Additional gene information for TMEM67 Gene

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

Genomics for TMEM67 Gene

GeneHancer (GH) Regulatory Elements for TMEM67 Gene

Promoters and enhancers for TMEM67 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I093753 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.0 7 1.8 HDGF PKNOX1 ATF1 ARNT ARID4B NEUROD1 SIN3A ZNF2 YY1 GTF3C2 TMEM67 PIR34125
GH08I093915 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.7 +162.5 162517 3.8 HDGF PKNOX1 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZNF213 ZNF207 ZNF143 PDP1 ENSG00000264448 MIR378D2 LINC00535 FAM92A ENSG00000253854 RPL34P18 TMEM67 DPY19L4 PSMA2P2
GH08I094718 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11 +965.2 965237 2.9 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 DPY19L4 VIRMA RBM12B INTS8 C8orf37 NDUFAF6 RPL34P18 TMEM67 ENSG00000272509 ESRP1
GH08I093974 Enhancer 0.6 ENCODE 9.9 +219.5 219484 0.2 LCORL NFIC SMAD1 NFIA NFIB ZNF350 ZNF195 ZNF112 ENSG00000275386 RPL34P18 VIRMA ENSG00000253854 INTS8 TMEM67 DPY19L4
GH08I093748 Enhancer 0.7 ENCODE 0.4 -5.9 -5885 0.8 DRAP1 ELF3 TFAP4 SAP130 MAX DMAP1 ZNF644 RAD21 RARA YY1 LOC105375645 TMEM67
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM67 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM67 gene promoter:

Genomic Locations for TMEM67 Gene

Genomic Locations for TMEM67 Gene
chr8:93,754,844-93,832,649
(GRCh38/hg38)
Size:
77,806 bases
Orientation:
Plus strand
chr8:94,767,072-94,831,462
(GRCh37/hg19)

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

Post-translational modifications for TMEM67 Gene

  • Glycosylation at posLast=242242
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMEM67 Gene

Domains & Families for TMEM67 Gene

Gene Families for TMEM67 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for TMEM67 Gene

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 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

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme (PubMed:22121117). {ECO:0000269 PubMed:22121117}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM67 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
endoplasmic reticulum 5

Gene Ontology (GO) - Cellular Components for TMEM67 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IDA,IEA 19815549
GO:0005813 centrosome IDA 17185389
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with TMEM67: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM67 Gene

Pathways & Interactions for TMEM67 Gene

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

Pathways by source for TMEM67 Gene

Gene Ontology (GO) - Biological Process for TMEM67 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010826 negative regulation of centrosome duplication IEA,IMP 19515853
GO:0030030 cell projection organization IEA --
GO:0030433 ubiquitin-dependent ERAD pathway IMP 19815549
GO:0060271 cilium assembly ISS,IEA --
GO:0097711 ciliary basal body-plasma membrane docking 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TMEM67 Gene



Protein tissue co-expression partners for TMEM67 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM67 Gene:

TMEM67

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.

Evidence on tissue expression from TISSUES for TMEM67 Gene

  • Nervous system(4.4)
  • Kidney(2)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM67 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pituitary gland
  • salivary gland
  • skull
  • tongue
  • tooth
Thorax:
  • aorta
  • breast
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • duodenum
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • pelvis
  • penis
  • placenta
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TMEM67: view

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 33 34
  • 99.77 (n)
cow
(Bos Taurus)
Mammalia TMEM67 33 34
  • 90.85 (n)
dog
(Canis familiaris)
Mammalia TMEM67 33 34
  • 90.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 86 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Tmem67 33 16 34
  • 85.01 (n)
rat
(Rattus norvegicus)
Mammalia Tmem67 33
  • 83.37 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM67 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM67 33 34
  • 71.77 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 70 (a)
OneToMany
-- 34
  • 49 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem67 33
  • 64.91 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem67 33 34
  • 61.65 (n)
Dr.18776 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002548 33
  • 42.25 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15923 33 34
  • 40.7 (n)
worm
(Caenorhabditis elegans)
Secernentea mks-3 33 34
  • 46.11 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10752 34
  • 41 (a)
OneToOne
Species where no ortholog for TMEM67 was found in the sources mined by GeneCards:
  • 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

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 Variation AA Info Type
rs1012735984 uncertain-significance, Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis 93,817,394(+) G/A 3_prime_UTR_variant, intron_variant, non_coding_transcript_variant
rs1064792983 pathogenic, Joubert syndrome, Meckel-Gruber syndrome 93,803,676(+) ATGAGTAATGTAA/GG coding_sequence_variant, intron_variant, non_coding_transcript_variant, splice_donor_variant
rs111619594 risk-factor, uncertain-significance, conflicting-interpretations-of-pathogenicity, Bardet-Biedl syndrome 14, modifier of, Nephronophthisis, not specified 93,780,962(+) A/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs112317911 uncertain-significance, Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis 93,817,393(+) T/C 3_prime_UTR_variant, intron_variant, non_coding_transcript_variant
rs114214029 uncertain-significance, Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome 93,817,304(+) C/T 3_prime_UTR_variant, intron_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv1003815 CNV insertion 20482838
esv1575991 CNV insertion 17803354
nsv1022473 CNV loss 25217958
nsv6309 CNV insertion 18451855
nsv831399 CNV loss 17160897

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)

Additional Variant Information for TMEM67 Gene

Human Gene Mutation Database (HGMD)
TMEM67
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM67

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

Disorders for TMEM67 Gene

MalaCards: The human disease database

(23) MalaCards diseases for TMEM67 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
coach syndrome
  • cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
joubert syndrome 6
  • jbts6
meckel syndrome, type 3
  • mks3
nephronophthisis 11
  • nphp11
bardet-biedl syndrome 14
  • bbs14
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MKS3_HUMAN
  • 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, ECO:0000269 PubMed:28860541}. 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.
  • 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:17185389, ECO:0000269 PubMed:19466712, ECO:0000269 PubMed:20232449}. 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.
  • 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}.

Additional Disease Information for 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 EA … Hildebrandt F (Journal of medical genetics 2009) 2 3 4 22 58
  2. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). (PMID: 19574260) Doherty D … Glass IA (Journal of medical genetics 2010) 3 4 22 58
  3. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. (PMID: 20232449) Iannicelli M … Valente EM (Human mutation 2010) 3 4 22 58
  4. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. (PMID: 19058225) Brancati F … International JSRD Study Group (Human mutation 2009) 3 4 22 58
  5. Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton. (PMID: 19596800) Dawe HR … Johnson CA (Journal of cell science 2009) 3 4 22 58

Products for TMEM67 Gene

Sources for TMEM67 Gene

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