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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TMEM171 Gene

protein-coding GIFtS: 41
GCID: GC05P072454

transmembrane protein 171

Search for TMEM171
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Transmembrane Protein 171¹ ²
PRP2¹ ²
Proline-Rich Protein PRP2²

External Ids:	HGNC: 27031¹	Entrez Gene: 134285²	Ensembl: ENSG00000157111⁷	UniProtKB: Q8WVE6³

Export aliases for TMEM171 gene to outside databases

Previous GC identifer: GC05P067622

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_006713.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TMEM171 gene promoter:
STAT5B USF1 POU2F1 p53 USF-1 POU2F1a LCR-F1 Meis-1b
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TMEM171 promoter sequence

Search SABiosciences Chromatin IP Primers for TMEM171

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM171

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

Entrez Gene cytogenetic band: 5q13.2 Ensembl cytogenetic band: 5q13.2 HGNC cytogenetic band: 5q13.2

TMEM171 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM171 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P072454: view genomic region (about GC identifiers)

Start:	72,416,119 bp from pter	End:	72,427,644 bp from pter
Size:	11,526 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TM171_HUMAN, Q8WVE6 (See protein sequence)

Recommended Name: Transmembrane protein 171

Size: 324 amino acids; 34760 Da

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Sequence caution: Sequence=BAB89327.1; Type=Erroneous gene model prediction;

Secondary accessions: Q8N0S1 Q8TDT7

Alternative splicing: 2 isoforms: Q8WVE6-1 Q8WVE6-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMEM171: NX_Q8WVE6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8WVE6

TMEM171 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001154814.1 NP_775761.4

ENSEMBL proteins:

ENSP00000415030 ENSP00000287773

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	IEA	--

TMEM171 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: Q8WVE6

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TMEM171

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for TMEM171 (ENSP00000287773⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

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Browse Tocris compounds for TMEM171
Search CenterWatch for drugs/clinical trials and news about TMEM171 / TM171

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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About This Section

REFSEQ mRNAs for TMEM171 gene (2 alternative transcripts):

NM_001161342.1 NM_173490.6

Unigene Cluster for TMEM171:

Transmembrane protein 171

Hs.162246 [show with all ESTs]

Unigene Representative Sequence: NM_173490

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000454765(uc003kcn.3 uc003kcm.2) ENST00000287773

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Additional cDNA sequence:

BC018083.1 BC035310.1

3 DOTS entries:

DT.100016440 DT.40235504 DT.86857434

21 AceView cDNA sequences:

BX479517 BX092046 AI762127 BX095376 AV725164 BU656911 BM849967 BM848850

NM_173490 BC035310 BG675076 AA552150 BC018083 BG709447 BE825231 BM851422

AI767027 AW058459 BG709232 AI985304 BE940660

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM171 About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4
SP1:
SP2:

ECgene alternative splicing isoforms for TMEM171

(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

TMEM171 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTAAGAAGAG

About this image

TMEM171 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 6 LifeMap Cells

Name

Category

PureStem™ progenitor E68 (Embryonic Progenitor Cell)

PureStem™ progenitor E44 (Embryonic Progenitor Cell)

PureStem™ progenitor EN27 (Embryonic Progenitor Cell)

PureStem™ progenitor F15 (Embryonic Progenitor Cell)

PureStem™ progenitor W10 (Embryonic Progenitor Cell)

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TMEM171 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TMEM171

SOURCE GeneReport for Unigene cluster: Hs.162246

SABiosciences Custom PCR Arrays for TMEM171

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In Situ
Assay Products:

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(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 chordates.

Orthologs for TMEM171 gene from 4/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tmem171^{1 , 5}	transmembrane protein 171^{1, 5}	78.3(n)¹ 74.77(a)¹		13 (52.13 cM)⁵ 380863¹ NM_001025606.1¹ NP_001020777.1¹ 98686235⁵
chicken (Gallus gallus)	Aves	TMEM171¹	transmembrane protein 171	55.4(n) 43.66(a)		427220 XM_424807.3 XP_424807.1
lizard (Anolis carolinensis)	Reptilia	TMEM171⁶	--	49(a)	1 ↔ 1	2(16139807-16143082)
African clawed frog (Xenopus laevis)	Amphibia	Xl.25760²	Xenopus laevis transcribed sequences	75.44(n)		BU912020.1

ENSEMBL Gene Tree for TMEM171 (if available)
TreeFam Gene Tree for TMEM171 (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, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs79674252^1,2	F,	--	72414442(+)	`AGAGGG/TGACAA`	2	--	us2k¹		1		WA	118
rs11744387^1,2	H	--	72414542(+)	`TTTGGT/GGCCCT`	2	--	us2k¹		4		NS EA	420
rs11282736^1,2	C,F,	--	72414683(+)	`CCATGTAAT AAA/-AGGGC`	2	--	us2k¹		2		NA CSA	4
rs191503000^1,2		--	72414738(+)	`TGCTGC/TGGGAG`	2	--	us2k¹		0	--	--	--	--
rs77036839^1,2	F,	--	72414832(+)	`CAGCCT/GGGACC`	2	--	us2k¹		1		EA	120
rs116398535^1,2	C,	--	72414924(+)	`AGATGC/TAGCAA`	2	--	us2k¹		0	--	--	--	--
rs77952722^1,2	F,	--	72414951(+)	`GGGTCG/ATGAGT`	2	--	us2k¹		1		WA	118
rs115623828^1,2		--	72414968(+)	`ATTGTT/CCATTT`	2	--	us2k¹		1		NA	120
rs78851820^1,2	F,	--	72415020(+)	`AGGTCG/AGGCAC`	2	--	us2k¹		1		WA	118
rs183659904^1,2		--	72415441(+)	`TGACCA/CCTGGT`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TMEM171 (72416119 - 72427644 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TMEM171: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TMEM171 for disorders About MalaCards

TMEM171 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: TMEM171 (1 document)

Export disorders for TMEM171 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 TMEM171 gene integrated from 9 sources:
(articles sorted by number of sources associating them with TMEM171)

Utopia: connect your pdf to the dynamic
world of online information

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)
Identification of G protein-coupled receptor genes from the human genome sequence. (PubMed id 12044878)^{1, 2} Takeda S.... Mitaku S. (2002)
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)
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. (PubMed id 22797727)¹ Okada Y....Tanaka T. (2012)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
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)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)¹ Brandenberger R.... Stanton L.W. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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: 134285	HGNC: 27031	AceView: LOC134285	Ensembl:ENSG00000157111	euGenes: HUgn134285
ECgene: TMEM171	H-InvDB: TMEM171

(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

Name	Description
PharmGKB entry for TMEM171	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TMEM171 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TMEM171 gene:
Search GeneIP for patents involving TMEM171

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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
About This Section


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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM171

	Browse SwitchGear 3'UTR luciferase reporter plasmids for TMEM171
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ThermoFisher Antibodies for TMEM171

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM171

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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TMEM171 Gene

transmembrane protein 171

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TMEM171 Gene

transmembrane protein 171

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Specialized Databases showing TMEM171 gene

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for TMEM171 gene

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for TMEM171 gene

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for TMEM171 gene

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for TMEM171 gene

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for TMEM171 gene

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for TMEM171 gene

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for TMEM171 gene

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for TMEM171 gene

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for TMEM171 gene

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for TMEM171 gene

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for TMEM171 gene

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for TMEM171 gene

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for TMEM171 gene

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for TMEM171 gene

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for TMEM171 gene

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for TMEM171 gene

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for TMEM171 gene