Format

Send to:

Choose Destination
    • Showing Current items.

    TMEM17 transmembrane protein 17 [ Homo sapiens (human) ]

    Gene ID: 200728, updated on 17-Jun-2019

    Summary

    Official Symbol
    TMEM17provided by HGNC
    Official Full Name
    transmembrane protein 17provided by HGNC
    Primary source
    HGNC:HGNC:26623
    See related
    Ensembl:ENSG00000186889 MIM:614950
    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
    Expression
    Broad expression in testis (RPKM 1.7), thyroid (RPKM 1.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See TMEM17 in Genome Data Viewer
    Location:
    2p15
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (62452778..62511894, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (62727356..62733604, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374761 Neighboring gene RNA, 7SL, cytoplasmic 51, pseudogene Neighboring gene uncharacterized LOC105374764 Neighboring gene RNA, 7SL, cytoplasmic 18, pseudogene Neighboring gene ribosomal protein L37 pseudogene 13 Neighboring gene ribosomal protein L21 pseudogene 37 Neighboring gene phosphoserine aminotransferase 1 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    NHGRI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ34583

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    MKS complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ciliary membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ciliary transition zone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    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_198276.3NP_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
      Q86X19
      Related
      ENSP00000335094.5, ENST00000335390.6
      Conserved Domains (1) summary
      pfam09799
      Location:48151
      Transmemb_17; Predicted membrane protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      62452778..62511894 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532694.2XP_011530996.1  transmembrane protein 17 isoform X4

      Conserved Domains (1) summary
      pfam09799
      Location:48108
      Transmemb_17; Predicted membrane protein
    2. XM_024452749.1XP_024308517.1  transmembrane protein 17 isoform X1

      Conserved Domains (1) summary
      pfam09799
      Location:48108
      Transmemb_17; Predicted membrane protein
    3. XM_011532693.2XP_011530995.1  transmembrane protein 17 isoform X3

      Conserved Domains (1) summary
      pfam09799
      Location:48110
      Transmemb_17; Predicted membrane protein
    4. XM_024452750.1XP_024308518.1  transmembrane protein 17 isoform X2

      Conserved Domains (1) summary
      pfam09799
      Location:23126
      Transmemb_17; Predicted membrane protein
    Support Center