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TMEM107 transmembrane protein 107 [ Homo sapiens (human) ]

Gene ID: 84314, updated on 27-Nov-2024

Summary

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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

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See TMEM107 in Genome Data Viewer
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_000017.11Genomic Context describing neighboring genes Neighboring gene period circadian regulator 1 Neighboring gene microRNA 6883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8053229-8053876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8163 Neighboring gene Sharpr-MPRA regulatory region 8148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8057595-8058375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8169 Neighboring gene vesicle associated membrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11672 Neighboring gene uncharacterized LOC105371520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8079237-8079848 Neighboring gene small nucleolar RNA, C/D box 118 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:8079849-8080460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8171 Neighboring gene tRNA-Trp (anticodon CCA) 3-3 Neighboring gene tRNA-Ser (anticodon GCT) 4-3 Neighboring gene microRNA 4521

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification of a novel MKS locus defined by TMEM107 mutation. Shaheen R, et al. Hum Mol Genet, 2015 Sep 15. PMID 26123494
  2. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. Bruel AL, et al. J Med Genet, 2017 Jun. PMID 28289185, Free PMC Article
  3. TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome. Shylo NA, et al. Hum Mutat, 2016 Feb. PMID 26518474
  4. Gene expression in the mouse eye: an online resource for genetics using 103 strains of mice. Geisert EE, et al. Mol Vis, 2009 Aug 31. PMID 19727342, Free PMC Article
  5. Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid. Dubaic M, et al. Life Sci Alliance, 2023 Dec. PMID 37863656, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
Submit: New GeneRIF Correction

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)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC10744

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

  1. NG_054916.1 RefSeqGene

    Range
    5032..8955
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

RNA

  1. NR_147092.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC129492, BC119731

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    8172457..8176380 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    8078617..8082540 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UX40.1 GenPept UniProtKB/Swiss-Prot:Q6UX40

Gene LinkOut

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