Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

TMEM67 Gene

protein-coding   GIFtS: 51
GCID: GC08P094837

transmembrane protein 67

(Previous names: Meckel syndrome, type 3 )
(Previous symbol: MKS3)
 Explore 34 diseases affiliated with
TMEM67 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TMEM67    

Aliases
for TMEM67 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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     MGC269791
MKS31 2 3 5     Meckel Syndrome, Type 31
JBTS61 2 5     MECKELIN2
NPHP111 2 5     Meckelin2
Meckel Syndrome Type 3 Protein2 3     TNEM672

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

Export aliases for TMEM67 gene to outside databases

Previous GC identifer: GC08P089974


Summaries
for TMEM67 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  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 plasmid: TMEM67 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

Proteins
for TMEM67 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5HYA8

    • TMEM67 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for TMEM67 
    GenScript Custom Purified and Recombinant Proteins Services for TMEM67
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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



    TMEM67 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies: TMEM67
    OriGene Custom Antibody Services for TMEM67 
    GenScript Custom Superior Antibodies Services for TMEM67
    Novus Biologicals TMEM67 Antibodies
    Search for Antibodies for TMEM67 at Abcam  
    Uscn Antibodies for TMEM67
    ThermoFisher Antibodies for TMEM67

    Assay Products for TMEM67: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TMEM67
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for TMEM67

    Protein Domains /
    Families
    for TMEM67 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TMEM67 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR009030 Growth_fac_rcpt
     IPR019170 Meckelin

    Graphical View of Domain Structure for InterPro Entry Q5HYA8

    ProtoNet protein and cluster: Q5HYA8


    Function
    for TMEM67 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): TMEM67
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMEM67
    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 plasmid: TMEM67 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMEM67 (see all 7)
    OriGene shRNA RFP: TMEM67
    OriGene siRNA: TMEM67
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMEM67

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TMEM67

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM67 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM67 (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): TMEM67 (NM_153704)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM67
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM67 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for TMEM67
    Search LifeMap BioReagents cell lines for TMEM67

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM67

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19815549
    GO:0031005filamin binding IPI--
    GO:0051082unfolded protein binding IPI19815549


    TMEM67 for ontologies           About GeneDecksing


    Animal Models:
         5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tmem67):
     cellular  embryogenesis  growth/size  mortality/aging  renal/urinary system 

    TMEM67 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for TMEM67 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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



    Drugs & Compounds
    for TMEM67 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Search CenterWatch for drugs/clinical trials and news about TMEM67 / MKS3 

    Transcripts
    for TMEM67 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    Products:             		 OriGene 3'-UTR Clone (see all 2): TMEM67
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMEM67
    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 plasmid: TMEM67 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMEM67 (see all 7)
    OriGene shRNA RFP: TMEM67
    OriGene siRNA: TMEM67
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMEM67
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM67 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM67 (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): TMEM67 (NM_153704)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM67
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM67 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TMEM67
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TMEM67
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM67
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM67

    Additional cDNA 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):

    AL045300 BC032835 AW086457 BX104096 BM782935 NM_153704 BX280751 AK094935 
    AI803612 AL601234 AI570756 CB140725 BX955151 BX955016 BC054338 AI004363 
    BX509590 AK092244 AL575584 AI986214 BX348922 CD356161 BG772035 BI545256 

    GeneLoc Exon Structure


    Expression
    for TMEM67 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TMEM67 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TMEM67
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TMEM67
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM67
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM67
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM67

    Orthologs
    for TMEM67 gene

    (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 6/23 species (see all 23)    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)
    		 1 ↔ 1
    		 4(18731100-18771755)
    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
    for TMEM67 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for TMEM67 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1051 NCBI SNPs in TMEM67 are shown (see all 1051)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2676071161,2
    		Cpathogenic90028712(+) AGAGAA/C/GGTTTG 3 S R G mis10--------
    rs1378531081,2
    		C,Fpathogenic94777845(+) TACGTA/TGAATT 5 R * stg12Minor allele frequency- T:0.00NA EU 5833
    rs2021494031,2
    		Cpathogenic94792861(+) AAATAT/CGTGTG 5 /T /M mis11Minor allele frequency- C:0.00EU 1323
    rs1116195941,2
    		C,F,pathogenic94793190(+) ATTTCA/TGTTTT 5 S C mis14Minor allele frequency- T:0.00CSA WA NA EU 5741
    rs2018934081,2
    		Cpathogenic94808198(+) TTGGAT/CGTGCC 5 /R /C mis11Minor allele frequency- C:0.00EU 1323
    rs736949691,2
    		C,F,--90029273(+) TGTTAA/GCATAA 1 -- int13Minor allele frequency- G:0.10WA CSA 122
    rs1833314621,2
    		--94765112(+) CATTTA/GCCTGG 3 -- us2k10--------
    rs1880165691,2
    		--94765174(+) TTCAAG/TTCCTC 3 -- us2k10--------
    rs1930609511,2
    		--94765175(+) TCAAGA/TCCTCC 3 -- us2k10--------
    rs1473654491,2
    		--94765210(+) TAAATC/TCTTCC 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for TMEM67 (94767072 - 94831462 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TMEM67: --
    Human Gene Mutation Database (HGMD): TMEM67

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMEM67
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM67

    Disorders / Diseases
    for TMEM67 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TMEM67 for disorders           About GeneDecksing

    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
  • Defects in TMEM67 are the cause of Meckel syndrome type 3 (MKS3) [MIM:607361]. MKS3 is an autosomal recessive
    • 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
  • Defects in TMEM67 are the cause of Joubert syndrome type 6 (JBTS6) [MIM:610688]. JBTS is an autosomal
    • recessive 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
  • Defects in TMEM67 may be a cause of 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=Genetic variations in TMEM67 may
    act as a modifier of the expression of Bardet-Biedl syndrome in patients who have 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 type 14
  • Defects in TMEM67 are a cause of COACH syndrome (COACHS) [MIM:216360]. It is 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
  • Defects in TMEM67 are the cause of nephronophthisis type 11 (NPHP11) [MIM:613550]. NPHP11 is 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

    20/34 diseases for TMEM67 (see all 34):    About MalaCards
    meckel syndrome type 3    meckel syndrome    bardet-biedl syndrome 14    bardet-biedl syndrome 14, modifier of
    joubert syndrome    bardet-biedl syndrome    oculomotor apraxia    senior-loken syndrome
    asphyxiating thoracic dystrophy    leber congenital amaurosis    encephalocele    encephaloceles
    joubert syndrome and related disorders    apraxia    coach syndrome    nephronophthisis
    pigmentary retinopathy    cerebellar hypoplasia    fundus dystrophy    was-related disorders

    4 diseases from the University of Copenhagen DISEASES database for TMEM67:
    Nephronophthisis     Polydactyly     Cystic kidney     Seckel syndrome
    GeneTests: TMEM67
    Joubert Syndrome

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

    Export disorders for TMEM67 gene to outside databases

    Publications
    for TMEM67 gene

    (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)

    External Searches for TMEM67 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing TMEM67 gene

    (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

    Other Databases showing TMEM67 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TMEM67 gene

    (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

    Intellectual Property
    for TMEM67 gene

    (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



    Products
    for TMEM67 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for TMEM67   OriGene shRNA RFP for TMEM67  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMEM67   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TMEM67  
     Browse OriGene Protein Over-expression Lysates   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for TMEM67   OriGene 3'-UTR Clone for TMEM67  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM67   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM67  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TMEM67   OriGene Custom Protein Services for TMEM67  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TMEM67
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMEM67
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM67
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMEM67
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM67
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM67
     GenScript Custom Purified and Recombinant Proteins Services for TMEM67 GenScript cDNA clones with any tag delivered in your preferred vector for TMEM67
     GenScript Custom Assay Services for TMEM67 GenScript Custom Superior Antibodies Services for TMEM67
     GenScript Custom overexpressing Cell Line Services for TMEM67 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in TMEM67 promoter
     Search Chromatin IP Primers for TMEM67
     RT2 qPCR Primer Assay in human, mouse, rat TMEM67
     Search GNC Networks for TMEM67
     SABiosciences PCR Arrays including human, mouse, rat TMEM67
     Search Tocris compounds for TMEM67
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     TMEM67 antibodies
     Search for Antibodies for TMEM67 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for TMEM67
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     TMEM67 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for TMEM67
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM67
     SwitchGear 3'UTR luciferase reporter plasmids for TMEM67
     SwitchGear Promoter luciferase reporter plasmids for TMEM67
     ThermoFisher Antibodies for TMEM67
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM67
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      TMEM67 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4