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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TMEM17 Gene

protein-coding   GIFtS: 42
GCID: GC02M062727

Transmembrane Protein 17

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Transmembrane Protein 171 2

External Ids:    HGNC: 266231   Entrez Gene: 2007282   Ensembl: ENSG000001868897   OMIM: 6149505   UniProtKB: Q86X193   

Export aliases for TMEM17 gene to outside databases

Previous GC identifers: GC02M062702 GC02M062639 GC02M062581 GC02M062465


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for TMEM17 Gene: 
TMEM17 (transmembrane protein 17) is a protein-coding gene. Diseases associated with TMEM17 include crohn's disease.

UniProtKB/Swiss-Prot: TMM17_HUMAN, Q86X19
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMEM17 gene promoter:
         MEF-2A   FOXJ2 (long isoform)   FOXD3   Nkx2-5   aMEF-2   FOXJ2   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM17 promoter sequence
   Search SABiosciences Chromatin IP Primers for TMEM17

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM17


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p15   Ensembl cytogenetic band:  2p15   HGNC cytogenetic band: 2p15

TMEM17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM17 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M062727:  view genomic region     (about GC identifiers)

Start:
62,727,356 bp from pter      End:
62,739,029 bp from pter
Size:
11,674 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TMM17_HUMAN, Q86X19 (See protein sequence)
Recommended Name: Transmembrane protein 17  
Size: 198 amino acids; 23046 Da
Subunit: Part of the tectonic-like complex (also named B9 complex) (By similarity)
Subcellular location: Cell projection, cilium membrane; Multi-pass membrane protein (By similarity).
Note=Localizes to the transition zone of primary cilia (By similarity)
Secondary accessions: Q53QP7 Q53R98

Explore the universe of human proteins at neXtProt for TMEM17: NX_Q86X19

Explore proteomics data for TMEM17 at MOPED 

TMEM17 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

TMEM17 Protein Expression

REFSEQ proteins: NP_938017.2  
ENSEMBL proteins: 
 ENSP00000335094  

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Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016020membrane ----
GO:0016021integral to membrane IEA--
GO:0035869ciliary transition zone ISS--
GO:0036038TCTN-B9D complex ISS--
GO:0060170cilium membrane ISS--

TMEM17 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro protein domain:
 IPR019184 Uncharacterised_TM-17

Graphical View of Domain Structure for InterPro Entry Q86X19

ProtoNet protein and cluster: Q86X19

UniProtKB/Swiss-Prot: TMM17_HUMAN, Q86X19
Similarity: Belongs to the TMEM17 family


TMEM17 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: TMM17_HUMAN, Q86X19
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)

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
TMEM17 for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for TMEM17:
 Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for TMEM17 
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SwitchGear 3'UTR luciferase reporter plasmidTMEM17 3' UTR sequence
Inhib. RNA
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMEM17

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/11 Interacting proteins for TMEM17 (ENSP000003350944) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
InteractantInteraction Details
GeneCardExternal ID(s)
AHI1ENSP000003567744STRING: ENSP00000356774
CEP290ENSP000003080214STRING: ENSP00000308021
MKS1ENSP000003768274STRING: ENSP00000376827
TCTN1ENSP000003807794STRING: ENSP00000380779
TCTN2ENSP000003049414STRING: ENSP00000304941
About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007224smoothened signaling pathway ISS--
GO:0042384cilium assembly ISS--

TMEM17 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TMEM17 (TMM17)

Search CenterWatch for drugs/clinical trials and news about TMEM17 / TMM17

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TMEM17 gene: 
NM_198276.2  

Unigene Cluster for TMEM17:

Transmembrane protein 17
Hs.308028  [show with all ESTs]
Unigene Representative Sequence: AK091902
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000335390(uc002sbt.2) ENST00000479763(uc002sbv.1) ENST00000494919(uc002sbu.2)

miRNA
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hsa-miR-200c hsa-miR-429 hsa-miR-205* hsa-miR-200b hsa-miR-296-3p hsa-miR-3647-3p hsa-miR-4282
SwitchGear 3'UTR luciferase reporter plasmidTMEM17 3' UTR sequence
Inhib. RNA
Products:
     
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                     Customized lentivirus expression plasmids for stable overexpression of TMEM17 
Primer
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM17

Additional mRNA sequence: 

AK091902.1 AK124081.1 BC047439.1 

5 DOTS entries:

DT.40261238  DT.101980853  DT.100745267  DT.75100457  DT.99984913 

24/30 AceView cDNA sequences (see all 30):

AI820820 BQ269162 BU949759 AI821451 AI732286 BX105045 AK124081 AI820709 
AI126611 BC047439 CB104980 BU952614 AK091902 BU951178 AI922002 BQ268895 
AW895489 NM_198276 AA084725 AX747245 R70171 BG255056 H42891 BI598556 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TMEM17 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
TMEM17 Expression
About this image


See TMEM17 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TMEM17

SOURCE GeneReport for Unigene cluster: Hs.308028
    SABiosciences Custom PCR Arrays for TMEM17
Primer
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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM17
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM17
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM17

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TMEM17 gene from 5/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Tmem171 , 5 transmembrane protein 171, 5 82.83(n)1
79.8(a)1
  11 (14.17 cM)5
1037651  NM_153596.31  NP_705824.11 
 225120885 
chicken
(Gallus gallus)
Aves TMEM171 transmembrane protein 17 72.74(n)
68.51(a)
  421284  XM_419352.3  XP_419352.2 
lizard
(Anolis carolinensis)
Reptilia TMEM176
transmembrane protein 17
57(a)
1 ↔ 1
AAWZ02037189(1217-11436)
zebrafish
(Danio rerio)
Actinopterygii Dr.276162 Transcribed sequences 72.42(n)    57053329 
worm
(Caenorhabditis elegans)
Secernentea ZK418.36
Protein ZK418.3
28(a)
1 ↔ 1
III(7070281-7070885)


ENSEMBL Gene Tree for TMEM17 (if available)
TreeFam Gene Tree for TMEM17 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/190 SNPs in TMEM17 are shown (see all 190)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1479394741,2
C--62726883(+) ACTGTA/CCCTCA 1 -- ds50010--------
rs728055861,2
C--62726887(+) TCCCTC/TAGTAA 1 -- ds50013Minor allele frequency- T:0.12NA WA 240
rs111259241,2
C,F,A,H--62727036(+) CCTAAA/GATAGA 1 -- ds500128Minor allele frequency- G:0.23NS EA NA CSA WA 3129
rs101980141,2
C,F,H--62727129(+) GAGGCG/ACTCTG 1 -- ds50016Minor allele frequency- A:0.05NS EA WA 536
rs75828821,2
C,F,A,H--62727154(+) CCTCAC/TGTGAA 1 -- ds500120Minor allele frequency- T:0.20NA NS EA WA 2476
rs746435511,2
C--62727170(+) TGGGTA/GTGAAG 1 -- ds50013Minor allele frequency- G:0.06NA WA 240
rs116783401,2
C,F,A,H--62727363(+) TGCTGA/CTACCT 1 -- ut3114Minor allele frequency- C:0.09NS EA NA CSA WA 1152
rs1888312371,2
--62727430(+) AATATA/GGTTTT 1 -- ut310--------
rs75834001,2
C,F,H--62727445(+) AAGTTA/GTAATT 1 -- ut3111Minor allele frequency- G:0.20NA WA CSA EA 372
rs582278311,2
C--62727747(+) CTAAT-/TTTTTT 1 -- ut310--------

HapMap Linkage Disequilibrium report for TMEM17 (62727356 - 62739029 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for TMEM17:    About this table     
Variant IDTypeSubtypePubMed ID
nsv2751CNV Loss18451855
nsv7313OTHER Inversion18451855

SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing TMEM17
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 614950    OMIM disorders: --

2 diseases for TMEM17:    About MalaCards
crohn's disease    


TMEM17 for disorders           About GeneDecksing


Export disorders for TMEM17 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for TMEM17 gene integrated from 9 sources:
(articles sorted by number of sources associating them with TMEM17)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
  4. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PubMed id 22412388)1 Kenny E.E....Peter I. (2012)
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
  6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 200728 HGNC: 26623 AceView: TMEM17 Ensembl:ENSG00000186889 euGenes: HUgn200728
ECgene: TMEM17 H-InvDB: TMEM17

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for TMEM17 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for TMEM17 gene:
Search GeneIP for patents involving TMEM17

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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 Proteins for TMEM17
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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM17
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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