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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 (JB... See more...
Aliases for TMEM67 Gene
Aliases for TMEM67 Gene
External Ids for TMEM67 Gene
- HGNC: 28396
- Entrez Gene: 91147
- Ensembl: ENSG00000164953
- OMIM: 609884
- UniProtKB: Q5HYA8
Previous HGNC Symbols for TMEM67 Gene
- MKS3
Previous GeneCards Identifiers for TMEM67 Gene
- GC08P094837
- GC08P089974
- GC08P094768
Summaries 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 Rhyns Syndrome. 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 Summary 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).
Additional gene information for TMEM67 Gene
- HGNC(28396)
- Entrez Gene(91147)
- Ensembl(ENSG00000164953)
- OMIM(609884)
- UniProtKB(Q5HYA8)
- Open Targets Platform(ENSG00000164953)
- Monarch Initiative
- Search for TMEM67 at DataMed
- Search for TMEM67 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM67 Gene
Genomics for TMEM67 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TMEM67 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TMEM67 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM67
- Top Transcription factor binding sites by QIAGEN in the TMEM67 gene promoter:
-
- AhR
- COMP1
- FOXD1
- HOXA5
- HOXA9
- HOXA9B
- Meis-1
- Meis-1a
- POU2F1
- POU2F1a
Genomic Locations for TMEM67 Gene
Genomic Locations for TMEM67 Gene
- chr8:93,754,844-93,832,653
- (GRCh38/hg38)
- Size:
- 77,810 bases
- Orientation:
- Plus strand
- chr8:94,767,072-94,831,462
- (GRCh37/hg19)
- Size:
- 64,391 bases
- Orientation:
- Plus strand
Genomic View for TMEM67 Gene
Genes around TMEM67 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8q22.1 by HGNC
- 8q22.1 by Entrez Gene
- 8q22.1 by Ensembl
TMEM67 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG52959.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for TMEM67 Gene
Post-translational modifications for TMEM67 Gene
Other Protein References for TMEM67 Gene
Antibody Products
- G Biosciences Immunotag™ MKS3 Antibody
-
Custom Antibody ServicesOriGene Antibodies for TMEM67
- Novus Biologicals Antibodies for TMEM67
-
Abcam antibodies for TMEM67
- Invitrogen Antibodies for TMEM67 (AFLGC-TMEM67)
-
Biorbyt antibodies for TMEM67
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for TMEM67
- Origene Custom Protein Services for TMEM67
- Novus Biologicals proteins for TMEM67
-
Signalway Proteins for TMEM67
Assay Products
-
Signalway ELISA kits for TMEM67
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
- Transporters
Protein Domains for TMEM67 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TMEM67 Gene
- GenScript: Design optimal peptide antigens:
-
- Transmembrane protein 67 (MKS3_HUMAN)
No data available for Graphical View of Domain Structure 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).
| 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 |
Phenotypes for TMEM67 Gene
- MGI mutant phenotypes for TMEM67:
-
inferred from 3 alleles
- nervous system phenotype
- cardiovascular system phenotype
- cellular phenotype
- mortality/aging
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- digestive/alimentary phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for TMEM67:
Animal Models for TMEM67 Gene
- MGI Knock Outs for TMEM67:
-
- Tmem67 Tmem67<tm1Dgen>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TMEM67 - Select products 50% OFF >
- * TMEM67 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TMEM67
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMEM67
-
Santa Cruz Biotechnology (SCBT) CRISPR for TMEM67
miRNA for TMEM67 Gene
- miRTarBase miRNAs that target TMEM67
-
- mmu-miR-223-3p (MIRT009642)
- hsa-miR-20a-5p (MIRT439423)
- hsa-miR-106b-5p (MIRT439424)
- hsa-miR-1227-3p (MIRT496620)
- hsa-miR-6508-3p (MIRT496621)
- hsa-miR-4726-5p (MIRT496622)
- hsa-miR-4640-5p (MIRT496623)
- hsa-miR-3926 (MIRT496624)
- hsa-miR-4252 (MIRT496625)
- hsa-miR-4745-5p (MIRT496626)
- hsa-miR-4481 (MIRT496627)
- hsa-miR-20a-3p (MIRT496628)
- hsa-miR-1273g-3p (MIRT496629)
- hsa-miR-8063 (MIRT496630)
- hsa-miR-6807-3p (MIRT496631)
- hsa-miR-217 (MIRT496632)
- hsa-miR-6878-3p (MIRT533695)
- hsa-miR-4512 (MIRT533696)
- hsa-miR-4775 (MIRT533697)
- hsa-miR-223-3p (MIRT533698)
- hsa-miR-4697-3p (MIRT533699)
- hsa-miR-6744-3p (MIRT533700)
- hsa-miR-4757-5p (MIRT533701)
- hsa-miR-1304-3p (MIRT533702)
- hsa-miR-16-1-3p (MIRT533703)
- hsa-miR-6760-3p (MIRT533704)
- hsa-miR-1208 (MIRT533705)
- hsa-miR-32-3p (MIRT533706)
- hsa-miR-7850-5p (MIRT652365)
- hsa-miR-6515-5p (MIRT652366)
- hsa-miR-7977 (MIRT652367)
- hsa-miR-4443 (MIRT652368)
- hsa-miR-650 (MIRT652369)
- hsa-miR-3612 (MIRT652370)
- hsa-miR-6730-3p (MIRT652371)
- hsa-miR-383-3p (MIRT652372)
- hsa-miR-4452 (MIRT712860)
- hsa-miR-183-3p (MIRT712861)
- hsa-miR-5007-3p (MIRT712862)
- hsa-miR-563 (MIRT712863)
- hsa-miR-380-5p (MIRT712864)
- hsa-miR-103a-2-5p (MIRT712865)
- hsa-miR-8069 (MIRT712866)
- hsa-miR-758-5p (MIRT712867)
- hsa-miR-519d-3p (MIRT726281)
- hsa-miR-93-5p (MIRT726282)
- hsa-miR-17-5p (MIRT726283)
- hsa-miR-20b-5p (MIRT726284)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TMEM67
- Browse OriGene Inhibitory RNA Products For TMEM67
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM67
Clone Products
- Applied Biological Materials (abm): Clones for TMEM67 - Select products 50% OFF >
- * TMEM67 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TMEM67
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMEM67
Cell Line Products
-
Horizon Cell Lines for TMEM67
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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| endoplasmic reticulum | 5 |
| extracellular | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endosome | 1 |
| cytosol | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IEA,IDA | 19815549 |
| GO:0005813 | centrosome | IDA | 17185389 |
| GO:0005856 | cytoskeleton | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM67 Gene
Pathways & Interactions for TMEM67 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Organelle biogenesis and maintenance |
.56
|
|
| 2 | Regulation of PLK1 Activity at G2/M Transition | ||
Pathways by source for TMEM67 Gene
3 Reactome pathways for TMEM67 Gene
Interacting Proteins for TMEM67 Gene
GPS-Prot Interaction Network for TMEM67
| 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 | IEA,ISS | -- |
| GO:0097711 | ciliary basal body-plasma membrane docking | TAS | -- |
No data available for SIGNOR curated interactions for TMEM67 Gene
Transcripts for TMEM67 Gene
mRNA/cDNA for TMEM67 Gene
- 2 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000323130 3284 nts (view in UCSC)
- ENST00000409623 3255 nts (view in UCSC)
- ENST00000425545 568 nts (view in UCSC)
- ENST00000452276 1461 nts (view in UCSC)
- ENST00000453321 4678 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TMEM67 - Select products 50% OFF >
- * TMEM67 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TMEM67
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMEM67
-
Santa Cruz Biotechnology (SCBT) CRISPR for TMEM67
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TMEM67
- Browse OriGene Inhibitory RNA Products For TMEM67
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM67
Clone Products
- Applied Biological Materials (abm): Clones for TMEM67 - Select products 50% OFF >
- * TMEM67 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TMEM67
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMEM67
Relevant External Links for TMEM67 Gene
- GeneLoc Exon Structure for
- TMEM67
Expression for TMEM67 Gene
This gene is overexpressed in Nasal epithelium (68.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM67 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM67
SOURCE GeneReport for Unigene cluster for TMEM67 Gene:
Hs.116240mRNA 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(4.5)
- Kidney(2.6)
- Liver(2.4)
- Eye(2.3)
- Skin(2.3)
- Heart(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
Primer Products
-
OriGene qPCR primer pairs for TMEM67
-
OriGene qPCR primer pairs and template standards for TMEM67
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TMEM67 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TMEM67 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TMEM67 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Tmem67 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Tmem67 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | TMEM67 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | TMEM67 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tmem67 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | tmem67 30 31 |
|
OneToOne | |
| Dr.18776 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002548 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG15923 30 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | mks-3 30 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10752 31 |
|
OneToOne |
- Species where no ortholog for TMEM67 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for TMEM67: view image
Paralogs for TMEM67 Gene
(27) SIMAP similar genes for TMEM67 Gene using alignment to 9 proteins:
- MKS3_HUMAN
- C9JHI2_HUMAN
- C9JRQ8_HUMAN
- E5RG10_HUMAN
- E5RH38_HUMAN
- F8WCQ6_HUMAN
- H0YAR5_HUMAN
- H0YB69_HUMAN
- H0YC18_HUMAN
No data available for Paralogs for TMEM67 Gene
Variants for TMEM67 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM67 Gene
| SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1372 | Pathogenic: Joubert syndrome 6 | 93,804,883(+) | G/C | INTRON_VARIANT | |
| 635320 | Uncertain Significance: Joubert syndrome 6 | 93,793,220(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 641012 | Uncertain Significance: Joubert syndrome; Meckel-Gruber syndrome | 93,799,645(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 642294 | Uncertain Significance: Joubert syndrome; Meckel-Gruber syndrome | 93,786,252(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 643113 | Pathogenic: Joubert syndrome; Meckel-Gruber syndrome | 93,786,306(+) | C/CA | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM67 Gene
Disorders for TMEM67 Gene
(69) MalaCards diseases for TMEM67 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| coach syndrome |
|
|
| rhyns syndrome |
|
|
| meckel syndrome, type 3 |
|
|
| joubert syndrome 6 |
|
|
| nephronophthisis 11 |
|
Search TMEM67 in MalaCards
View complete list of genes associated with diseases
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:17185389, ECO:0000269 PubMed:17377820, ECO:0000269 PubMed:19466712, ECO:0000269 PubMed:20232449}. 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:19574260, 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 14 (BBS14) [MIM:615991]: 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.
- 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.
- RHYNS syndrome (RHYNS) [MIM:602152]: An autosomal recessive syndrome characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and skeletal dysplasia. {ECO:0000269 PubMed:29891882}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TMEM67
- Human Genome Epidemiology Navigator
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No data available for Genatlas for TMEM67 Gene
Publications for TMEM67 Gene
- 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 23
- 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 23
- Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. (PMID: 20232449) Iannicelli M … Valente EM (Human mutation 2010) 3 4 23
- 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 23
- 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 23
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