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    TMEM17 transmembrane protein 17 [ Homo sapiens (human) ]

    Gene ID: 200728, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TMEM17provided by HGNC
    Official Full Name
    transmembrane protein 17provided by HGNC
    Primary source
    HGNC:HGNC:26623
    See related
    Ensembl:ENSG00000186889 MIM:614950; AllianceGenome:HGNC:26623
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Involved in non-motile cilium assembly. Predicted to be located in ciliary membrane. Predicted to be part of MKS complex. Predicted to be active in ciliary transition zone. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 1.7), thyroid (RPKM 1.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM17 in Genome Data Viewer
    Location:
    2p15
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (62453531..62506195, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (62459855..62512518, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (62727353..62733330, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374761 Neighboring gene small nucleolar RNA U13 Neighboring gene RNA, 7SL, cytoplasmic 51, pseudogene Neighboring gene Sharpr-MPRA regulatory region 11227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:62523719-62524218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:62532419-62532946 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:62532947-62533472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15859 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:62552835-62554034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:62589276-62589776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:62589777-62590277 Neighboring gene NANOG hESC enhancer GRCh37_chr2:62601400-62601986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15862 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15863 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:62638109-62638868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15864 Neighboring gene uncharacterized LOC105374764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11537 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:62702751-62703483 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:62728217-62729416 Neighboring gene Sharpr-MPRA regulatory region 12243 Neighboring gene RNA, 7SL, cytoplasmic 18, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11539 Neighboring gene ribosomal protein L37 pseudogene 13 Neighboring gene ribosomal protein L21 pseudogene 37

    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. TMEM17 depresses invasion and metastasis in lung cancer cells via ERK signaling pathway. Zhang X, et al. Oncotarget, 2017 Sep 19. PMID 29050311, Free PMC Article
    2. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. Li C, et al. PLoS Biol, 2016 Mar. PMID 26982032, Free PMC Article
    3. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. Kenny EE, et al. PLoS Genet, 2012. PMID 22412388, Free PMC Article
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    • FLJ34583

    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 ISS
    Inferred from Sequence or Structural Similarity
    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 smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of MKS complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary transition zone ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 17

    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)

    1. NM_198276.3 → NP_938017.2  transmembrane protein 17

      See identical proteins and their annotated locations for NP_938017.2

      Status: VALIDATED

      Source sequence(s)
      AC093159, BC047439, DR760587
      Consensus CDS
      CCDS1871.1
      UniProtKB/Swiss-Prot
      Q53QP7, Q53R98, Q86X19
      Related
      ENSP00000335094.5, ENST00000335390.6
      Conserved Domains (1) summary
      pfam09799
      Location:48 → 151
      Transmemb_17; Predicted membrane protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      62453531..62506195 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532694.3 → XP_011530996.1  transmembrane protein 17 isoform X3

      Conserved Domains (1) summary
      pfam09799
      Location:48 → 108
      Transmemb_17; Predicted membrane protein

    2. XM_024452749.2 → XP_024308517.1  transmembrane protein 17 isoform X1

      Conserved Domains (1) summary
      pfam09799
      Location:48 → 108
      Transmemb_17; Predicted membrane protein

    3. XM_047443708.1 → XP_047299664.1  transmembrane protein 17 isoform X4

    4. XM_011532693.3 → XP_011530995.1  transmembrane protein 17 isoform X2

      Conserved Domains (1) summary
      pfam09799
      Location:48 → 110
      Transmemb_17; Predicted membrane protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      62459855..62512518 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341006.1 → XP_054196981.1  transmembrane protein 17 isoform X3

    2. XM_047443945.1 → XP_047299901.1  transmembrane protein 17 isoform X4

    3. XM_054341004.1 → XP_054196979.1  transmembrane protein 17 isoform X1

    4. XM_054341005.1 → XP_054196980.1  transmembrane protein 17 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86X19.2 GenPept UniProtKB/Swiss-Prot:Q86X19

    Gene LinkOut

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

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