Tmem107 transmembrane protein 107 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tmem107provided by MGI
Official Full Name: transmembrane protein 107provided by MGI
Primary source: MGI:MGI:1914160
See related: Ensembl:ENSMUSG00000020895 AllianceGenome:MGI:1914160
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: 1110004B13Rik; 2810049P21Rik
Summary: Involved in several processes, including embryonic digit morphogenesis; non-motile cilium assembly; and protein localization to ciliary transition zone. Acts upstream of or within several processes, including craniofacial suture morphogenesis; detection of nodal flow; and roof of mouth development. Located in ciliary transition zone. Is expressed in brain ventricle and choroid plexus; nasal cavity epithelium; node; and pharynx. Human ortholog(s) of this gene implicated in Meckel syndrome 13 and orofaciodigital syndrome XVI. Orthologous to human TMEM107 (transmembrane protein 107). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis adult (RPKM 30.6), ovary adult (RPKM 12.8) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B3; 11 42.35 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (68961635..68964119)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (69070809..69073293)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of ciliary transition zone protein TMEM107 leads to heterotaxy in mice.
Title: Loss of ciliary transition zone protein TMEM107 leads to heterotaxy in mice.
multiple roles in craniofacial development
Title: Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development.
TMEM107 Is a critical regulator of ciliary protein composition and is mutated in orofaciodigital syndrome mice.
Title: TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome
Title: TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
Data show that Transmembrane protein 107 (Tmem107) is required for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with Gli2 and Gli3 to pattern ventral and intermediate neuronal cell types.
Title: Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling.

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Variation

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Alleles

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

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

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
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 cilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within craniofacial suture morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within detection of nodal flow	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in neural tube patterning	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-motile cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in protein localization to ciliary transition zone	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to ciliary transition zone	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of MKS complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MKS complex	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in ciliary transition zone	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary transition zone	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transmembrane protein 107

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_025838.2 → NP_080114.1 transmembrane protein 107 isoform 1

See identical proteins and their annotated locations for NP_080114.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) lacks an internal segment in the 3' region, as compared to variant 2. The resulting isoform (1) is shorter and has a different C-terminus, as compared to isoform 2.

Source sequence(s)

AA217716, AK003403, CO044635

Consensus CDS

CCDS24879.1

UniProtKB/Swiss-Prot

B2RPS9, Q5SUQ6, Q9CPV0, Q9CZ71

Related

ENSMUSP00000075363.6, ENSMUST00000075980.12

Conserved Domains (1) summary

pfam14995
Location:7 → 129

TMEM107; Transmembrane protein
NM_028336.3 → NP_082612.2 transmembrane protein 107 isoform 2

See identical proteins and their annotated locations for NP_082612.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) is the longer transcript and encodes the longer isoform (2).

Source sequence(s)

AA217716, AI835650, AK003403, AK012938

Consensus CDS

CCDS24880.1

UniProtKB/Swiss-Prot

Q9CPV0

Related

ENSMUSP00000091624.5, ENSMUST00000094081.5

Conserved Domains (1) summary

pfam14995
Location:7 → 117

TMEM107; Transmembrane protein