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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TMEM67 Gene

protein-coding   GIFtS: 53
GCID: GC08P094837

Transmembrane Protein 67

(Previous names: Meckel syndrome, type 3)
(Previous symbol: MKS3)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Transmembrane Protein 671 2 3     NPHP112 5
MKS31 2 3 5     Meckel Syndrome, Type 31
Meckelin1 2     MECKELIN2
Meckel Syndrome Type 3 Protein2 3     TNEM672
JBTS62 5     

External Ids:    HGNC: 283961   Entrez Gene: 911472   Ensembl: ENSG000001649537   OMIM: 6098845   UniProtKB: Q5HYA83   
ORGUL members:         
NONCODE14:n407026      

Export aliases for TMEM67 gene to outside databases

Previous GC identifer: GC08P089974


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with TMEM67 include meckel syndrome, and coach syndrome. GO annotations related to this gene include unfolded protein binding and filamin binding.

UniProtKB/Swiss-Prot: MKS3_HUMAN, Q5HYA8
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. Required for ciliary structure and function, including a role in regulating length and
appropriate number through modulating 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMEM67 gene promoter:
         AhR   HOXA9   HOXA9B   FOXD1   POU2F1   POU2F1a   COMP1   HOXA5   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM67 promoter sequence
   Search SABiosciences Chromatin IP Primers for TMEM67

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM67


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q22.1   Ensembl cytogenetic band:  8q22.1   HGNC cytogenetic band: 8q22.1

TMEM67 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM67 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P094837:  view genomic region     (about GC identifiers)

Start:
94,767,072 bp from pter      End:
94,831,462 bp from pter
Size:
64,391 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MKS3_HUMAN, Q5HYA8 (See protein sequence)
Recommended Name: Meckelin  
Size: 995 amino acids; 111745 Da
Subunit: 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
Subcellular location: 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 (By similarity)
Sequence caution: Sequence=AAH32835.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAG52959.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B3KRU5 B3KT47 G5E9H2 Q3ZCX3 Q7Z5T8 Q8IZ06
Alternative splicing: 2 isoforms:  Q5HYA8-1   Q5HYA8-3   (No experimental confirmation available. Ref.1 (BAG52507) sequence is in conflict in positions: 18:Q->R, 24:Q->R)

Explore the universe of human proteins at neXtProt for TMEM67: NX_Q5HYA8

Explore proteomics data for TMEM67 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5HYA8

  • TMEM67 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TMEM67 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001135773.1  NP_714915.3  

    ENSEMBL proteins: 
     ENSP00000388671   ENSP00000389998   ENSP00000430232   ENSP00000430289   ENSP00000386966  
     ENSP00000403035   ENSP00000429925   ENSP00000416339   ENSP00000427947   ENSP00000430740  
     ENSP00000314488   ENSP00000428785  

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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TMEM67 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IDA19815549
    GO:0005813centrosome IDA17185389
    GO:0005932microtubule basal body IEA--
    GO:0016021integral to membrane IEA--
    GO:0030659cytoplasmic vesicle membrane IDA19815549

    TMEM67 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR009030 Growth_fac_rcpt_N_dom
     IPR019170 Meckelin

    Graphical View of Domain Structure for InterPro Entry Q5HYA8

    ProtoNet protein and cluster: Q5HYA8


    TMEM67 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MKS3_HUMAN, Q5HYA8
    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. Required for ciliary structure and function, including a role in regulating length and
    appropriate number through modulating centrosome duplication. Required for cell branching morphology. Essential
    for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17185389
    GO:0031005filamin binding IPI--
    GO:0051082unfolded protein binding IPI19815549
         
    TMEM67 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tmem67):
     cardiovascular system  cellular  digestive/alimentary  embryogenesis  growth/size 
     mortality/aging  renal/urinary system 

    TMEM67 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TMEM67 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TMEM67

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TMEM67 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TMEM67 

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM67:
    hsa-miR-3163 hsa-miR-182 hsa-miR-924 hsa-miR-4263 hsa-miR-340 hsa-miR-548c-3p hsa-miR-452
    SwitchGear 3'UTR luciferase reporter plasmidTMEM67 3' UTR sequence
    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of TMEM67 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM67


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMEM67

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/16 Interacting proteins for TMEM67 (Q5HYA83 ENSP000003899984) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MKS1Q9NXB03, ENSP000003768274I2D: score=1 STRING: ENSP00000376827
    COPS2P612013I2D: score=5 
    AHI1ENSP000003567744STRING: ENSP00000356774
    B9D1ENSP000002614994STRING: ENSP00000261499
    B9D2ENSP000002435784STRING: ENSP00000243578
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010826negative regulation of centrosome duplication IMP19515853
    GO:0030433ER-associated protein catabolic process IMP19815549
    GO:0042384cilium assembly IMP19515853
    GO:0060271cilium morphogenesis ISS--

    TMEM67 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TMEM67 (MKS3)

    Search CenterWatch for drugs/clinical trials and news about TMEM67 / MKS3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TMEM67 gene (2 alternative transcripts): 
    NM_001142301.1  NM_153704.5  

    Unigene Cluster for TMEM67:

    Transmembrane protein 67
    Hs.116240  [show with all ESTs]
    Unigene Representative Sequence: NM_153704
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000452276 ENST00000453321(uc010mat.1 uc003yga.4 uc011lgk.2 uc011lgl.2)
    ENST00000498673 ENST00000518319 ENST00000409623 ENST00000453906 ENST00000474944(uc010maw.2)
    ENST00000475305(uc010mav.3) ENST00000521222 ENST00000455946 ENST00000481620(uc010mau.3)
    ENST00000521065 ENST00000521517 ENST00000323130 ENST00000496213 ENST00000425545
    ENST00000520634 ENST00000520680
    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM67:
    hsa-miR-3163 hsa-miR-182 hsa-miR-924 hsa-miR-4263 hsa-miR-340 hsa-miR-548c-3p hsa-miR-452
    SwitchGear 3'UTR luciferase reporter plasmidTMEM67 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM67

    Additional mRNA sequence: 

    AK026742.1 AK092244.1 AK094935.1 AK297676.1 AK308071.1 AK308735.1 BC017974.1 BC054338.1 
    BX648768.1 NR_024522.1 

    12 DOTS entries:

    DT.402617  DT.100754434  DT.100754432  DT.305890  DT.91648487  DT.95120635  DT.91904934  DT.95314826 
    DT.100667518  DT.100754433  DT.121467460  DT.121467472 

    24/68 AceView cDNA sequences (see all 68):

    BX955016 BX280751 AL045300 AI803612 BX955151 BM782935 BC032835 AK094935 
    NM_153704 AI570756 AL601234 CB140725 BX104096 AW086457 BC054338 AX747428 
    AK092244 BG722297 AK026742 BC017974 BU633481 BX648768 AI004363 BG772035 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TMEM67 expression in normal human tissues (normalized intensities)      TMEM67 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TMEM67 Expression
    About this image


    TMEM67 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/36 selected tissues (see all 36) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
             bronchial epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Pancreas (Endocrine System)    fully expand to see all 3 entries
             Islets of Langerhans
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
             pancreas ; exocrine glandular cells   

    See TMEM67 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMEM67

    SOURCE GeneReport for Unigene cluster: Hs.116240

    UniProtKB/Swiss-Prot: MKS3_HUMAN, Q5HYA8
    Tissue specificity: Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord

        SABiosciences Expression via Pathway-Focused PCR Array including TMEM67: 
              Primary Cilia in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM67

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TMEM67 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem671 , 5 transmembrane protein 671, 5 85.01(n)1
    85.38(a)1
      4 (5.56 cM)5
    3297951  NM_177861.41  NP_808529.21 
     120393635 
    chicken
    (Gallus gallus)
    Aves TMEM671 transmembrane protein 67 71.25(n)
    70.46(a)
      420224  XM_418334.3  XP_418334.3 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM676
    --
    --
    70(a)
    42(a)
    1 ↔ 1
    possible ortholog
    4(18731127-18772485)
    4(18714459-18723538)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.187762 Transcribed sequence with weak similarity to protein more 72.47(n)    AL726134.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG159231 CG15923 40.48(n)
    28.46(a)
      42443  NM_001104376.2  NP_001097846.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mks-31 Protein MKS-3 46.21(n)
    34.49(a)
      185278  NM_063190.1  NP_495591.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMEM67 gene
    18/26 SIMAP similar genes for TMEM67 using alignment to 9 protein entries:     MKS3_HUMAN (see all proteins) (see all similar genes):
    NSD1    SUN3    BUB1B    C12orf23    CNOT2    KLHDC1
    WDR6    ZNF738    IPO7    SENP7    SPSB4    UTY
    ZNF415    ZNF616    MTA3    TGFBR3    ZNF83    FANCA

    TMEM67 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1374 SNPs in TMEM67 are shown (see all 1374)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0638024
    COACH syndrome (COACHS)4--see VAR_0638022 Q P mis40--------
    VAR_0623204
    Meckel syndrome 3 (MKS3)4--see VAR_0623202 L P mis40--------
    VAR_0623184
    Meckel syndrome 3 (MKS3)4--see VAR_0623182 R Q mis40--------
    VAR_0254744
    Meckel syndrome 3 (MKS3)4--see VAR_0254742 Q P mis40--------
    VAR_0623154
    Meckel syndrome 3 (MKS3)4--see VAR_0623152 W C mis40--------
    VAR_0637874
    COACH syndrome (COACHS)4--see VAR_0637872 R Q mis40--------
    VAR_0637944
    COACH syndrome (COACHS)4--see VAR_0637942 R C mis40--------
    VAR_0637964
    COACH syndrome (COACHS)4--see VAR_0637962 F S mis40--------
    VAR_0637974
    COACH syndrome (COACHS)4--see VAR_0637972 F L mis40--------
    VAR_0641864
    Nephronophthisis 11 (NPHP11)4--see VAR_0641862 G R mis40--------

    HapMap Linkage Disequilibrium report for TMEM67 (94767072 - 94831462 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TMEM67:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv6309CNV Insertion18451855
    esv1575991CNV Insertion17803354
    esv1003815CNV Insertion20482838
    nsv831399CNV Loss17160897
    dgv7834n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): TMEM67
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609884   
    OMIM disorders: 607361  610688  209900  216360  613550  
    UniProtKB/Swiss-Prot: MKS3_HUMAN, Q5HYA8
  • Note=Ciliary dysfunction leads 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. 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. 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. 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. 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/40 diseases for TMEM67 (see all 40):    About MalaCards
    meckel syndrome    coach syndrome    tmem67-related meckel syndrome    nephronophthisis11
    tmem67-related joubert syndrome    bardet-biedl syndrome 14, modifier of    meckel syndrome type 3    congenital hepatic fibrosis
    mulibrey nanism    joubert syndrome    joubert syndrome and related disorders    was-related disorders
    encephalocele    encephaloceles    nephronophthisis    asphyxiating thoracic dystrophy
    seckel syndrome    apraxia    bardet-biedl syndrome    senior-loken syndrome

    5 diseases from the University of Copenhagen DISEASES database for TMEM67:
    Nephronophthisis     Polydactyly     Cystic kidney     Seckel syndrome
    Polycystic kidney disease

    TMEM67 for disorders           About GeneDecksing

    GeneTests: TMEM67
    GeneReviews: TMEM67
    Human Genome Epidemiology (HuGE) Navigator: TMEM67 (2 documents)

    Export disorders for TMEM67 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TMEM67 gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with TMEM67)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). (PubMed id 19508969)1, 2, 3, 9 Otto E.A....Hildebrandt F. (2009)
    2. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. (PubMed id 16415887)1, 2, 3 Smith U.M....Johnson C.A. (2006)
    3. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) caus e COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). (PubMed id 19574260)1, 2, 9 Doherty D....Glass I.A. (2010)
    4. The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. (PubMed id 17185389)1, 2, 9 Dawe H.R.... Johnson C.A. (2007)
    5. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. (PubMed id 19058225)1, 2, 9 Brancati F....Valente E.M. (2009)
    6. Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. (PubMed id 19515853)1, 2 Tammachote R.... Harris P.C. (2009)
    7. Meckel-Gruber syndrome protein MKS3 is required for e ndoplasmic reticulum-associated degradation of surfactant protein C. (PubMed id 19815549)1, 2 Wang M....Weaver T.E. (2009)
    8. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. (PubMed id 18327255)1, 2 Leitch C.C....Katsanis N. (2008)
    9. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. (PubMed id 17160906)1, 2 Baala L....Attie-Bitach T. (2007)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 91147 HGNC: 28396 AceView: MGC26979 Ensembl:ENSG00000164953 euGenes: HUgn91147
    ECgene: TMEM67 H-InvDB: TMEM67

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TMEM67 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TMEM67

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TMEM67 gene:
    Search GeneIP for patents involving TMEM67

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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