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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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    NEW Try the new Transcript table

    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

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

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