TMEM107 transmembrane protein 107 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM107provided by HGNC
Official Full Name: transmembrane protein 107provided by HGNC
Primary source: HGNC:HGNC:28128
See related: Ensembl:ENSG00000179029 MIM:616183; AllianceGenome:HGNC:28128
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MKS13; JBTS29; GRVS638; PRO1268
Summary: This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]
Expression: Ubiquitous expression in thyroid (RPKM 7.3), bone marrow (RPKM 5.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (8172457..8176380, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (8078617..8082540, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (8075775..8079698, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid.
Title: Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid.
This study shows that known MKS loci account for the overwhelming majority of MKS cases but additional loci exist including MKS13 caused by TMEM107 mutation.
Title: Identification of a novel MKS locus defined by TMEM107 mutation.
TMEM107 (2810049P21Rik) is a strong candidate gene for central areolar choroidal dystrophy, CACD (human 17p13). Conclusion is based on a massive expression data set for mouse (103 strains in GeneNetwork.org) and joint analysis of RetNet database.
Title: Gene expression in the mouse eye: an online resource for genetics using 103 strains of mice.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Meckel syndrome 13 MedGen: C4539714 OMIM: 617562 GeneReviews: Not available	Compare labs
Orofaciodigital syndrome 16 MedGen: C4539729 OMIM: 617563 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S2157 (e-PCR)
- UniSTS:24136

D11S3114 (e-PCR)
- UniSTS:152207

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cilium assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in craniofacial suture morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in detection of nodal flow	IEA Inferred from Electronic Annotation more info
involved_in embryonic digit morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in neural tube patterning	IEA Inferred from Electronic Annotation more info
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 protein localization to ciliary transition zone	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in roof of mouth development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of MKS complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MKS complex	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary transition zone	IDA Inferred from Direct Assay more info	PubMed
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.

Genomic

NG_054916.1 RefSeqGene

Range

5032..8955

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001351278.2 → NP_001338207.1 transmembrane protein 107 isoform 3

Status: REVIEWED

Source sequence(s)

AC129492, BC070231

Consensus CDS

CCDS86572.1

Related

ENSP00000436674.1, ENST00000533070.5

Conserved Domains (1) summary

pfam14995
Location:7 → 128

TMEM107; Transmembrane protein
NM_001351279.2 → NP_001338208.1 transmembrane protein 107 isoform 4

Status: REVIEWED

Source sequence(s)

AC129492

Conserved Domains (1) summary

pfam14995
Location:7 → 122

TMEM107; Transmembrane protein
NM_001351280.2 → NP_001338209.1 transmembrane protein 107 isoform 5

Status: REVIEWED

Source sequence(s)

AC129492

Consensus CDS

CCDS86571.1

UniProtKB/TrEMBL

E9PIH0

Related

ENSP00000389420.2, ENST00000431792.2

Conserved Domains (1) summary

pfam14995
Location:7 → 69

TMEM107; Transmembrane protein
NM_032354.5 → NP_115730.2 transmembrane protein 107 isoform 1

See identical proteins and their annotated locations for NP_115730.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC129492, AF311338

Consensus CDS

CCDS11132.1

UniProtKB/Swiss-Prot

Q6UX40

Related

ENSP00000314116.5, ENST00000316425.9

Conserved Domains (1) summary

pfam14995
Location:7 → 135

TMEM107; Transmembrane protein
NM_183065.4 → NP_898888.1 transmembrane protein 107 isoform 2

See identical proteins and their annotated locations for NP_898888.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC129492, AF311338, BC127649

Consensus CDS

CCDS45607.1

UniProtKB/Swiss-Prot

A0PJV7, Q6NSE3, Q6UX40, Q6ZRX9, Q96T82

Related

ENSP00000402732.2, ENST00000437139.7

Conserved Domains (1) summary

pfam14995
Location:7 → 129

TMEM107; Transmembrane protein