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TMEM17 Gene(Protein Coding)

Transmembrane Protein 17

GCID:
GC02M062465
GIFtS:
40
Genes Participants
UDN Logo

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 Meckel Syndrome, Type 1.

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).

Additional gene information for TMEM17 Gene

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

Genomics for TMEM17 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for TMEM17 Gene

Promoters and enhancers for TMEM17 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02I062504 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 559.5 +5.8 5810 2.3 HDGF PKNOX1 SMAD1 SIN3A YY1 POLR2B ZNF766 CBX5 ZNF263 SP3 TMEM17 RPL37P13 XPO1 ENSG00000226622 CCT4 ENSG00000236498 EHBP1 LOC100132215 OTX1 RN7SL18P
GH02I062473 Enhancer 1 Ensembl ENCODE 17.2 +35.7 35720 5.4 ELF3 MLX ARID4B DMAP1 BATF RAD21 RCOR1 MIXL1 MXD4 ELF1 TMEM17 RPL37P13 ENSG00000226622 EHBP1 CCT4 COMMD1 ENSG00000228541 GC02P062494
GH02I062456 Enhancer 1.2 Ensembl ENCODE 11.5 +53.7 53703 3.3 HDGF MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 RPL37P13 TMEM17 ENSG00000226622 EHBP1 ENSG00000228541 GC02M062385
GH02I062464 Enhancer 0.7 ENCODE 17.4 +46.0 46042 2.2 CTCF ZNF740 CAVIN1 NR4A1 MAFG GTF2A2 ZNF354B RELA ZNF592 SP1 TMEM17 USP34 XPO1 CCT4 RPL37P13 ENSG00000236498 ENSG00000226622 EHBP1 ENSG00000228541 GC02P062494
GH02I062538 Enhancer 0.9 ENCODE 11.4 -28.4 -28367 3 ELF3 FOXA2 ARID4B DMAP1 THRB ZSCAN9 RAD21 RARA YY1 CREM TMEM17 RPL37P13 EHBP1 ENSG00000226622 LOC100132215 RPL21P37 PSAT1P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM17 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM17 gene promoter:

Genomic Locations for TMEM17 Gene

Genomic Locations for TMEM17 Gene
chr2:62,447,595-62,511,894
(GRCh38/hg38)
Size:
64,300 bases
Orientation:
Minus strand
chr2:62,727,356-62,739,029
(GRCh37/hg19)

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

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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 posLast=1313 and isoforms=23
  • 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):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

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

Function for TMEM17 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

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

Animal Model Products

miRNA for TMEM17 Gene

miRTarBase miRNAs that target TMEM17

Clone 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

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:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035869 ciliary transition zone ISS,IEA --
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

PathCards logo More details on SuperPathways for TMEM17
No Data Available

Gene Ontology (GO) - Biological Process for TMEM17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007224 smoothened signaling pathway ISS,IEA --
GO:0030030 cell projection organization IEA --
GO:0060271 cilium assembly ISS,IEA --
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for TMEM17 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TMEM17 Gene

(4) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(30) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMEM17 Gene

Transmembrane protein 17:
Representative Sequences:

Clone 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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, 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

Evidence on tissue expression from TISSUES for TMEM17 Gene

  • Nervous system(4.1)
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 , 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 33 34
  • 99.66 (n)
cow
(Bos Taurus)
 Mammalia TMEM17 33 34
  • 90.24 (n)
dog
(Canis familiaris)
 Mammalia TMEM17 33 34
  • 89.9 (n)
mouse
(Mus musculus)
 Mammalia Tmem17 33 16 34
  • 82.83 (n)
rat
(Rattus norvegicus)
 Mammalia Tmem17 33
  • 79.8 (n)
oppossum
(Monodelphis domestica)
 Mammalia TMEM17 34
  • 72 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia TMEM17 34
  • 71 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves TMEM17 33 34
  • 72.28 (n)
lizard
(Anolis carolinensis)
 Reptilia TMEM17 34
  • 60 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia tmem17 33
  • 59.73 (n)
zebrafish
(Danio rerio)
 Actinopterygii tmem17 33 34
  • 61.62 (n)
Dr.27616 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.3206 33
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for TMEM17 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs201339749 Orofaciodigital syndrome 6 (OFD6) [MIM:277170] 62,502,449(-) G/T coding_sequence_variant, missense_variant
rs1000012581 -- 62,456,172(-) C/A genic_downstream_transcript_variant, intron_variant
rs1000068208 -- 62,456,484(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000074038 -- 62,462,573(-) A/T genic_downstream_transcript_variant, intron_variant
rs1000106222 -- 62,526,577(-) C/G/T genic_upstream_transcript_variant, intron_variant

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

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

Disorders for TMEM17 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TMEM17 Gene - From: Swiss-Prot and DISEASES

Disorder Aliases PubMed IDs
orofaciodigital syndrome vi
  • ofd6
meckel syndrome, type 1
  • mks1
joubert syndrome 1
  • jbts1
- 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.

Additional Disease Information for TMEM17

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 MR (PLoS biology 2016) 3 4 58
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  3. 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 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta GD … Pelletier L (Cell 2015) 3 58

Products for TMEM17 Gene

Sources for TMEM17 Gene

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