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Tmem67 transmembrane protein 67 [ Mus musculus (house mouse) ]

Gene ID: 329795, updated on 11-Apr-2024

Summary

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Official Symbol
Tmem67provided by MGI
Official Full Name
transmembrane protein 67provided by MGI
Primary source
MGI:MGI:1923928
See related
Ensembl:ENSMUSG00000049488 AllianceGenome:MGI:1923928
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
B230117O07; b2b1163.1Clo; b2b1291.1Clo; 5330408M12Rik
Summary
Predicted to enable filamin binding activity; misfolded protein binding activity; and unfolded protein binding activity. Involved in branching morphogenesis of an epithelial tube; cilium assembly; and negative regulation of centrosome duplication. Acts upstream of or within determination of left/right symmetry; heart development; and kidney development. Located in cytoplasmic vesicle membrane and endoplasmic reticulum membrane. Part of MKS complex. Is expressed in diencephalon; hindbrain lateral wall; metanephros; and organ of Corti. Used to study Joubert syndrome 6; Meckel syndrome; cystic kidney disease; and visceral heterotaxy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome (multiple); COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; and nephronophthisis 11. Orthologous to human TMEM67 (transmembrane protein 67). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis adult (RPKM 9.1), CNS E14 (RPKM 4.8) and 24 other tissues See more
Orthologs
human all
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Genomic context

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See Tmem67 in Genome Data Viewer
Location:
4 A1; 4 5.56 cM
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (12039355..12090020, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (12039355..12090020, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 42255 Neighboring gene predicted gene, 46844 Neighboring gene STARR-seq mESC enhancer starr_09607 Neighboring gene STARR-seq mESC enhancer starr_09608 Neighboring gene predicted gene, 52723 Neighboring gene STARR-positive B cell enhancer ABC_E2104 Neighboring gene STARR-positive B cell enhancer ABC_E2686 Neighboring gene RNA binding motif protein 12 B2 Neighboring gene STARR-seq mESC enhancer starr_09609 Neighboring gene poly A binding protein, cytoplasmic 4 pseudogene Neighboring gene poly A binding protein, cytoplasmic 4 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Evidence that TMEM67 causes polycystic kidney disease through activation of JNK/ERK-dependent pathways. Du E, et al. Cell Biol Int, 2013 Jul. PMID 23456819, Free PMC Article
  2. Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis. Collin GB, et al. Invest Ophthalmol Vis Sci, 2012 Feb. PMID 22247471, Free PMC Article
  3. The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells. Romani S, et al. Differentiation, 2014 Mar-Apr. PMID 24613594, Free PMC Article
  4. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. Leightner AC, et al. Hum Mol Genet, 2013 May 15. PMID 23393159, Free PMC Article
  5. Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. Tammachote R, et al. Hum Mol Genet, 2009 Sep 1. PMID 19515853, Free PMC Article

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/beta-catenin signalling in the developing cerebellum via Hoxb5.
    Title: The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5.
  2. Multi-organ developmental abnormalities in the Tmem67(tm1Dgen/H1) knockout mouse that closely resemble those seen in Wnt5a and Ror2 knockout mice.
    Title: The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.
  3. Meckelin is expressed in mESCs and localized at the primary cilium. Meckelin depletion impairs neural differentiation of mESCs.
    Title: The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells.
  4. TMEM67 mutations cause PKD through ERK- and JNK-dependent signalling pathways, which may provide novel insight into the therapy of polycystic kidney diseases.
    Title: Evidence that TMEM67 causes polycystic kidney disease through activation of JNK/ERK-dependent pathways.
  5. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.
    Title: The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.
  6. The Tmem67 knockout mouse line is unique in modelling the variable expressivity of phenotypes in Meckel-Gruber syndrome and Joubert syndrome.
    Title: Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.
  7. Meckelin is a component of ciliary and cell membranes and is encoded by Tmem67 (Mks3).
    Title: Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Chemically induced (ENU) (2) 
  • Endonuclease-mediated (3) 

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables filamin binding ISO
Inferred from Sequence Orthology
more info
  
enables misfolded protein binding ISO
Inferred from Sequence Orthology
more info
  
enables unfolded protein binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in ERAD pathway ISO
Inferred from Sequence Orthology
more info
  
involved_in branching morphogenesis of an epithelial tube IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium assembly ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within determination of left/right symmetry IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in epithelial tube branching involved in lung morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in head development ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within heart development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within kidney development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of centrosome duplication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of centrosome duplication ISO
Inferred from Sequence Orthology
more info
  
involved_in non-canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in non-canonical Wnt signaling pathway ISO
Inferred from Sequence Orthology
more info
  
involved_in photoreceptor cell outer segment organization ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of ERAD pathway ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of non-motile cilium assembly ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
part_of MKS complex IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with axoneme ISO
Inferred from Sequence Orthology
more info
  
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in centrosome ISO
Inferred from Sequence Orthology
more info
  
located_in ciliary membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ciliary transition zone ISO
Inferred from Sequence Orthology
more info
  
located_in cilium IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasmic vesicle membrane ISO
Inferred from Sequence Orthology
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
meckelin
Names
meckel syndrome type 3 protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_177861.5 → NP_808529.3  meckelin precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the supported protein.
    Source sequence(s)
    AL772167
    Consensus CDS
    CCDS17974.1
    UniProtKB/Swiss-Prot
    Q78U07, Q8BR76
    Related
    ENSMUSP00000052644.4, ENSMUST00000050686.10
    Conserved Domains (1) summary
    pfam09773
    Location:169 → 992
    Meckelin; Meckelin (Transmembrane protein 67)

RNA

  1. NR_110955.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK045429, AK077246, AK133059, AL772167, BX634800
    Related
    ENSMUST00000131145.9

  2. NR_161254.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL772167

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    12039355..12090020 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006538008.4 → XP_006538071.1  meckelin isoform X2

    UniProtKB/Swiss-Prot
    Q78U07, Q8BR76
    Conserved Domains (1) summary
    pfam09773
    Location:9 → 806
    Meckelin; Meckelin (Transmembrane protein 67)

  2. XM_036164188.1 → XP_036020081.1  meckelin isoform X2

    UniProtKB/Swiss-Prot
    Q78U07, Q8BR76
    Conserved Domains (1) summary
    pfam09773
    Location:9 → 806
    Meckelin; Meckelin (Transmembrane protein 67)

  3. XM_006538007.4 → XP_006538070.3  meckelin isoform X1

    UniProtKB/TrEMBL
    A2AJP5, E9QNI1
    Related
    ENSMUSP00000103928.3, ENSMUST00000108293.3
    Conserved Domains (1) summary
    pfam09773
    Location:238 → 1061
    Meckelin; Meckelin (Transmembrane protein 67)

RNA

  1. XR_001784156.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BR76.2 GenPept UniProtKB/Swiss-Prot:Q8BR76

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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