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

Summary

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 several processes, including epithelial tube branching involved in lung morphogenesis; negative regulation of centrosome duplication; and non-canonical Wnt signaling pathway. 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 several diseases, including Bardet-Biedl syndrome (multiple); COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; and nephronophthisis (multiple). Orthologous to human TMEM67 (transmembrane protein 67). [provided by Alliance of Genome Resources, Dec 2024]
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

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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2)
Endonuclease-mediated (3)
Targeted (1) 1 citation

General gene information

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Markers

AV299215 (e-PCR)
- UniSTS:178969

NoName (e-PCR)
- UniSTS:234870

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
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
located_in axoneme	ISO Inferred from Sequence Orthology 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 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 membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology 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)

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

UniProtKB/TrEMBL

A2AJP5

Related

ENSMUSP00000103928.4, ENSMUST00000108293.4

Conserved Domains (1) summary

pfam09773
Location:169 → 992

Meckelin; Meckelin (Transmembrane protein 67)

RNA

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

ENSMUST00000131145.10
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

NC_000070.7 Reference GRCm39 C57BL/6J

Range

12039355..12090020 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q78U07, Q8BR76

Conserved Domains (1) summary

pfam09773
Location:238 → 1061

Meckelin; Meckelin (Transmembrane protein 67)