U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TMEM17 transmembrane protein 17 [ Homo sapiens (human) ]

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
transmembrane protein 17

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous