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TMEM17 transmembrane protein 17 [ Homo sapiens (human) ]

Gene ID: 200728, updated on 12-Oct-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
109.20190905 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 109.20190905

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
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