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Aliases for TMEM17 Gene

Aliases for TMEM17 Gene

  • Transmembrane Protein 17 2 3 5

External Ids for TMEM17 Gene

Previous GeneCards Identifiers for TMEM17 Gene

  • GC02M062702
  • GC02M062639
  • GC02M062581
  • GC02M062727

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 Vi and Orofaciodigital Syndrome.

UniProtKB/Swiss-Prot 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).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM17 Gene

Genomics for TMEM17 Gene

Regulatory Elements for TMEM17 Gene

Enhancers for TMEM17 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F062473 1.3 Ensembl ENCODE 17.1 +35.7 35746 5.5 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 TMEM17 RPL37P13 ENSG00000226622 EHBP1 CCT4 COMMD1 ENSG00000228541 GC02P062494
GH02F062464 1.1 Ensembl ENCODE 17.3 +45.2 45211 3.8 CTCF TFAP4 DDX20 ZNF175 PTRF ZNF384 CEBPG ZIC2 RAD21 ZNF316 TMEM17 RPL37P13 ENSG00000226622 EHBP1 ENSG00000228541 GC02P062494
GH02F062456 1.3 Ensembl ENCODE 11.5 +53.7 53703 3.3 HDGF MLX ARID4B SIN3A FEZF1 DMAP1 ZNF48 ZNF2 SLC30A9 GLIS2 RPL37P13 TMEM17 ENSG00000226622 EHBP1 ENSG00000228541 GC02M062385
GH02F061905 1.1 ENCODE 12.2 +606.2 606157 1.4 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 KLF13 ZNF263 ENSG00000273302 TMEM17 FAM161A CCT4 ENSG00000278523
GH02F062471 0.6 ENCODE 17.2 +39.7 39661 1.5 ATF3 ZKSCAN8 HNF4G ZBTB33 RAD21 YY1 TMEM17 RPL37P13 EHBP1 ENSG00000228541 GC02P062494
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM17 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM17 Gene

Chromosome:
2
Start:
62,447,595 bp from pter
End:
62,511,894 bp from pter
Size:
64,300 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 StructureGene Density

RefSeq DNA sequence for TMEM17 Gene

Proteins for TMEM17 Gene

  • 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

Post-translational modifications for TMEM17 Gene

  • Glycosylation at Asn 13 and Asn 23
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM17 Gene

No data available for DME Specific Peptides for TMEM17 Gene

Domains & Families for TMEM17 Gene

Protein Domains for TMEM17 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM17 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for TMEM17 Gene

Function for TMEM17 Gene

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).
genes like me logo Genes that share phenotypes with TMEM17: view

Animal Model Products

miRNA for TMEM17 Gene

miRTarBase miRNAs that target TMEM17

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 2
lysosome 1

Gene Ontology (GO) - Cellular Components for TMEM17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035869 ciliary transition zone IEA,ISS --
GO:0036038 MKS complex IEA,ISS --
genes like me logo Genes that share ontologies with TMEM17: view

Pathways & Interactions for TMEM17 Gene

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 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

Transcripts for TMEM17 Gene

Unigene Clusters for TMEM17 Gene

Transmembrane protein 17:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for TMEM17 Gene

GeneLoc Exon Structure for
TMEM17
ECgene alternative splicing isoforms for
TMEM17

Expression for TMEM17 Gene

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



NURSA nuclear receptor signaling pathways regulating expression of TMEM17 Gene:

TMEM17

SOURCE GeneReport for Unigene cluster for TMEM17 Gene:

Hs.308028
genes like me logo Genes that share expression patterns with TMEM17: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.66 (n)
cow
(Bos Taurus)
Mammalia TMEM17 34 35
  • 90.24 (n)
dog
(Canis familiaris)
Mammalia TMEM17 34 35
  • 89.9 (n)
mouse
(Mus musculus)
Mammalia Tmem17 34 16 35
  • 82.83 (n)
rat
(Rattus norvegicus)
Mammalia Tmem17 34
  • 79.8 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM17 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM17 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM17 34 35
  • 72.28 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM17 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem17 34
  • 59.73 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem17 34 35
  • 61.62 (n)
Dr.27616 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3206 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToOne
Species where no ortholog for TMEM17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for TMEM17 Gene

No data available for Paralogs for TMEM17 Gene

Variants for TMEM17 Gene

Sequence variations from dbSNP and Humsavar for TMEM17 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs201339749 Orofaciodigital syndrome 6 (OFD6) [MIM:277170] 62,502,449(+) TGTAG(G/T)TTACC intron-variant, reference, missense
rs10048637 -- 62,471,244(+) ACCAA(C/T)TGGGG intron-variant
rs10048807 -- 62,471,429(+) CTTCT(C/G)TTTCT intron-variant
rs10165283 -- 62,522,418(+) gatca(A/G)ttttg intron-variant
rs10169216 -- 62,452,967(+) GAGTT(A/G)GGAAC intron-variant, utr-variant-3-prime

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)

Relevant External Links for TMEM17 Gene

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

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

Disorders for TMEM17 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TMEM17 Gene - From: Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
orofaciodigital syndrome vi
  • joubert syndrome with orofaciodigital defect
orofaciodigital syndrome
  • orofaciodigital syndrome i
meckel syndrome 1
  • meckel syndrome
joubert syndrome 1
  • joubert syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TMM17_HUMAN
  • Orofaciodigital syndrome 6 (OFD6) [MIM:277170]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD6 is characterized by metacarpal abnormalities with central polydactyly, cerebellar abnormalities including the molar tooth sign, tongue hamartomas, additional frenula, and upper lip notch. {ECO:0000269 PubMed:26982032}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TMEM17

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

No data available for Genatlas for TMEM17 Gene

Publications for TMEM17 Gene

  1. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. (PMID: 26982032) Li C. … Leroux M.R. (PLoS Biol. 2016) 3 4 64
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3 64

Products for TMEM17 Gene

Sources for TMEM17 Gene

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