TMEM17 Gene (Protein Coding)

Transmembrane Protein 17

GC02M062452
GIFtS:
32
See more...

Aliases for TMEM17 Gene

Aliases for TMEM17 Gene

  • Transmembrane Protein 17 2 3 4 5
  • FLJ34583 2
  • TMEM17 5

External Ids for TMEM17 Gene

Previous GeneCards Identifiers for TMEM17 Gene

  • GC02M062702
  • GC02M062639
  • GC02M062581
  • GC02M062465
  • GC02M062727
  • GC02M062447

Summaries for TMEM17 Gene

GeneCards Summary for TMEM17 Gene

TMEM17 (Transmembrane Protein 17) is a Protein Coding gene. Diseases associated with TMEM17 include Orofaciodigital Syndrome I and Orofaciodigital Syndrome. An important paralog of this gene is TMEM80.

UniProtKB/Swiss-Prot Summary for TMEM17 Gene

  • Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).

Additional gene information for TMEM17 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM17 Gene

Genomics for TMEM17 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TMEM17 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM17 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM17

Top Transcription factor binding sites by QIAGEN in the TMEM17 gene promoter:
  • aMEF-2
  • FOXD3
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-2
  • MEF-2A
  • Nkx2-5

Genomic Locations for TMEM17 Gene

Latest Assembly
chr2:62,452,778-62,511,894
(GRCh38/hg38)
Size:
59,117 bases
Orientation:
Minus strand

Previous Assembly
chr2:62,727,353-62,733,330
(GRCh37/hg19 by Entrez Gene)
Size:
5,978 bases
Orientation:
Minus strand

chr2:62,727,356-62,739,029
(GRCh37/hg19 by Ensembl)
Size:
11,674 bases
Orientation:
Minus strand

Genomic View for TMEM17 Gene

Genes around TMEM17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM17 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TMEM17 Gene

Proteins for TMEM17 Gene

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  • Protein details for TMEM17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86X19-TMM17_HUMAN
    Recommended name:
    Transmembrane protein 17
    Protein Accession:
    Q86X19
    Secondary Accessions:
    • Q53QP7
    • Q53R98

    Protein attributes for TMEM17 Gene

    Size:
    198 amino acids
    Molecular mass:
    23046 Da
    Quaternary structure:
    • Part of the tectonic-like complex (also named B9 complex).

neXtProt entry for TMEM17 Gene

Protein Expression for TMEM17 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TMEM17 Gene

  • Glycosylation at Asn13 and Asn23
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM17 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM17 Gene

Domains & Families for TMEM17 Gene

Gene Families for TMEM17 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for TMEM17 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM17 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 17 (TMM17_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86X19

UniProtKB/Swiss-Prot:

TMM17_HUMAN :
  • Belongs to the TMEM17 family.
Family:
  • Belongs to the TMEM17 family.
genes like me logo Genes that share domains with TMEM17: view

Function for TMEM17 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for TMEM17 Gene

UniProtKB/Swiss-Prot Function:
Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).

Phenotypes From GWAS Catalog for TMEM17 Gene

Gene Ontology (GO) - Molecular Function for TMEM17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26638075
genes like me logo Genes that share ontologies with TMEM17: view
genes like me logo Genes that share phenotypes with TMEM17: view

Animal Models for research

miRNA for TMEM17 Gene

miRTarBase miRNAs that target TMEM17

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM17

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM17 Gene

Localization for TMEM17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM17 Gene

Cell projection, cilium membrane. Multi-pass membrane protein. Note=Localizes to the transition zone of primary cilia. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM17 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 3
extracellular 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035869 ciliary transition zone IEA,ISS --
genes like me logo Genes that share ontologies with TMEM17: view

Pathways & Interactions for TMEM17 Gene

PathCards logo

SuperPathways for TMEM17 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007224 smoothened signaling pathway IEA,ISS --
GO:0030030 cell projection organization IEA --
GO:0060271 cilium assembly IEA,ISS --
GO:1905515 non-motile cilium assembly IMP 26982032
genes like me logo Genes that share ontologies with TMEM17: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM17 Gene

Drugs & Compounds for TMEM17 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for TMEM17 Gene

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mRNA/cDNA for TMEM17 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM17

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM17 Gene

No ASD Table

Relevant External Links for TMEM17 Gene

GeneLoc Exon Structure for
TMEM17

Expression for TMEM17 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM17 Gene

mRNA expression in normal human tissues for TMEM17 Gene
mRNA expression by BioGPS for TMEM17 GenemRNA expression by GTEx for TMEM17 Gene

mRNA differential expression in normal tissues according to GTEx for TMEM17 Gene

This gene is overexpressed in Brain - Hypothalamus (x4.4).

Protein differential expression in normal tissues from HIPED for TMEM17 Gene

This gene is overexpressed in Nasal epithelium (66.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMEM17 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM17

SOURCE GeneReport for Unigene cluster for TMEM17 Gene:

Hs.308028

Evidence on tissue expression from TISSUES for TMEM17 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with TMEM17: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM17 Gene

Orthologs for TMEM17 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM17 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia TMEM17 30 31
  • 99.66 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TMEM17 30 31
  • 90.24 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TMEM17 30 31
  • 89.9 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tmem17 30 17 31
  • 82.83 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tmem17 30
  • 79.8 (n)
Oppossum
(Monodelphis domestica)
 Mammalia TMEM17 31
  • 72 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TMEM17 31
  • 71 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TMEM17 30 31
  • 72.28 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TMEM17 31
  • 60 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tmem17 30
  • 59.73 (n)
Zebrafish
(Danio rerio)
 Actinopterygii tmem17 30 31
  • 61.62 (n)
 OneToOne
Dr.27616 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.3206 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 35 (a)
 OneToOne
Species where no ortholog for TMEM17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TMEM17 Gene

ENSEMBL:
Gene Tree for TMEM17 (if available)
TreeFam:
Gene Tree for TMEM17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM17: view image

Paralogs for TMEM17 Gene

Paralogs for TMEM17 Gene

genes like me logo Genes that share paralogs with TMEM17: view

Variants for TMEM17 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM17 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
917960 Uncertain Significance: Joubert syndrome 62,502,453(-) C/A
NM_198276.3(TMEM17):c.302G>T (p.Gly101Val) 		MISSENSE
rs201339749 Uncertain Significance: Orofaciodigital syndrome I. - 62,502,449(-) G/Tp.Asn102Lys
NM_198276.3(TMEM17):c.306C>A (p.Asn102Lys) 		MISSENSE
rs17854454 - p.Gly26Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMEM17 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TMEM17 Gene

Variant ID Type Subtype PubMed ID
nsv2751 CNV deletion 18451855
nsv7313 OTHER inversion 18451855

Variation tolerance for TMEM17 Gene

Residual Variation Intolerance Score: 63.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.27; 81.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM17

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM17 Gene

Disorders for TMEM17 Gene

MalaCards: The human disease database

(10) MalaCards diseases for TMEM17 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
orofaciodigital syndrome i
  • ofd1
orofaciodigital syndrome
  • oral-facial-digital syndrome
joubert syndrome 14
  • jbts14
joubert syndrome 20
  • jbts20
meckel syndrome, type 5
  • mks5
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TMEM17

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TMEM17: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM17 Gene

Publications for TMEM17 Gene

  1. TMEM17 depresses invasion and metastasis in lung cancer cells via ERK signaling pathway. (PMID: 29050311) Zhang X … Wang E (Oncotarget 2017) 2 3
  2. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. (PMID: 26982032) Li C … Leroux MR (PLoS biology 2016) 3 4
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

ExternalLinks

View latest publications for TMEM17 gene in Mastermind

Products for TMEM17 Gene

Sources for TMEM17 Gene