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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TMEM71 Gene

protein-coding GIFtS: 41
GCID: GC08M133697

transmembrane protein 71

Search for TMEM71
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 71¹ ²
FLJ33069¹

External Ids:	HGNC: 26572¹	Entrez Gene: 137835²	Ensembl: ENSG00000165071⁷	UniProtKB: Q6P5X7³

Export aliases for TMEM71 gene to outside databases

Previous GC identifers: GC08M133792 GC08M129040

(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_000008.10 NC_018919.1 NT_008046.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TMEM71 gene promoter:
STAT1 ATF-2 STAT1beta POU6F1 (c2) FOXL1 STAT1alpha AREB6 Sox9 SEF-1 (1) c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TMEM71 promoter sequence

Search SABiosciences Chromatin IP Primers for TMEM71

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM71

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

Entrez Gene cytogenetic band: 8q24.22 Ensembl cytogenetic band: 8q24.22 HGNC cytogenetic band: 8q24.22

TMEM71 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM71 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M133697: view genomic region (about GC identifiers)

Start:	133,697,253 bp from pter	End:	133,772,958 bp from pter
Size:	75,706 bases	Orientation:	minus 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: TMM71_HUMAN, Q6P5X7 (See protein sequence)

Recommended Name: Transmembrane protein 71

Size: 295 amino acids; 32983 Da

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

Secondary accessions: Q3KRC2 Q8WVZ4 Q96LX9

Alternative splicing: 3 isoforms: Q6P5X7-1 Q6P5X7-2 Q6P5X7-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMEM71: NX_Q6P5X7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6P5X7

TMEM71 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001138625.1 NP_653250.2

ENSEMBL proteins:

ENSP00000428772 ENSP00000428228 ENSP00000349296 ENSP00000367133 ENSP00000430847

ENSP00000428397 ENSP00000429873 ENSP00000430239

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	Uscn Proteins for TMEM71

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	--

TMEM71 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: Q6P5X7

UniProtKB/Swiss-Prot: TMM71_HUMAN, Q6P5X7

Similarity: Belongs to the TMEM71 family

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

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TMEM71

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		SwitchGear 3'UTR luciferase reporter plasmid: TMEM71 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM71

(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 TMEM71

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for TMEM71 (Q6P5X7³ ENSP00000349296⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ING2	Q9H160³, ENSP00000307183⁴	I2D: score=1 STRING: ENSP00000307183
SIN3A	Q96ST3³, ENSP00000353622⁴	I2D: score=1 STRING: ENSP00000353622

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

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TMEM71
Search CenterWatch for drugs/clinical trials and news about TMEM71 / TMM71

(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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TMEM71 gene (2 alternative transcripts):

NM_001145153.1 NM_144649.2

Unigene Cluster for TMEM71:

Transmembrane protein 71

Hs.293842 [show with all ESTs]

Unigene Representative Sequence: NM_144649

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

ENST00000524079 ENST00000522780 ENST00000523829 ENST00000356838(uc003ytm.2 uc003ytn.3)

ENST00000377901(uc003yto.3) ENST00000522334 ENST00000519016 ENST00000517538

ENST00000519187 ENST00000519304 ENST00000522594

miRNA Products:		OriGene 3'-UTR Clone (see all 2): TMEM71 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMEM71
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM71 (see all 11):
		hsa-miR-181c hsa-miR-323b-3p hsa-miR-522 hsa-miR-181a hsa-miR-181d hsa-miR-224* hsa-miR-145* hsa-miR-518a-5p

		SwitchGear 3'UTR luciferase reporter plasmid: TMEM71 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Custom design and validation of potent shRNA sequences against TMEM71

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		GenScript: all cDNA clones in your preferred vector (see all 2): TMEM71 (NM_144649)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM71

Additional cDNA sequence:

AK057631.1 BC022053.2 BC062592.1 BC105783.1

6 DOTS entries:

DT.121467421 DT.40228932 DT.95306642 DT.204799 DT.100730337 DT.100773218

24/43 AceView cDNA sequences (see all 43):

BC062592 CA424830 NM_144649 CR619905 AK057631 AI748827 BG505962 CD638788

AW058105 AI342543 BI766942 AA355836 BE748663 BE748123 BX431149 C01441

CD639088 BG500320 BG534854 BX956073 BI765258 BU618308 BX460755 AL600152

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM71 (see all 9) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3a	·	3b	^	4	^	5	^	6a	·	6b	^	7a	·	7b	·	7c	·	7d	^	8a	·	8b	^	9	^	10	^	11	^	12
SP1:							-		-				-								-
SP2:							-		-				-																-		-
SP3:							-		-				-
SP4:
SP5:							-		-

ECgene alternative splicing isoforms for TMEM71

(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

TMEM71 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGAAAATTG

About this image

TMEM71 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Mandibular Process

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Fetal cardiomyocytes (20 weeks) (Primary Cell)

Heart, Myocardium

See TMEM71 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TMEM71

SOURCE GeneReport for Unigene cluster: Hs.293842

SABiosciences Custom PCR Arrays for TMEM71

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM71

(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 TMEM71 gene from 4/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tmem71^{1 , 5}	transmembrane protein 71^{1, 5}	77.78(n)¹ 68.56(a)¹		15 (29.28 cM)⁵ 213068¹ NM_172514.3¹ NP_766102.1¹ 66526212⁵
chicken (Gallus gallus)	Aves	TMEM71⁶	Uncharacterized protein	41(a)	1 ↔ 1	2(147357593-147363658)
lizard (Anolis carolinensis)	Reptilia	TMEM71⁶	--	49(a)	1 ↔ 1	4(571118-572103)
zebrafish (Danio rerio)	Actinopterygii	si:ch211-235o23.1¹	si:ch211-235o23.1	50.65(n) 41.75(a)		570302 NM_001130853.2 NP_001124325.1

ENSEMBL Gene Tree for TMEM71 (if available)
TreeFam Gene Tree for TMEM71 (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 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs115319288^1,2	F	--	133721850(+)	`GGTGAT/CGTAAT`	2	--	int¹		1		WA	118
rs187136981^1,2		--	133722003(+)	`TGACCC/TTTATT`	2	--	int¹		0	--	--	--	--
rs75936288^1,2	C,F	--	133722046(+)	`TAACTT/ATGTGT`	2	--	int¹		1		NA	120
rs12114262^1,2	C,F,H	--	133722097(+)	`CAATAG/AGGAAA`	2	--	int¹		10		NS EA NA WA	1176
rs7012279^1,2	C,F,A,H	--	133722130(+)	`TGTTCT/CGCCAT`	2	--	int¹		13		NA WA CSA EA	516
rs7012402^1,2	C,F,A,H	--	133722151(+)	`AAAAAT/AATATA`	2	--	int¹		8		NS EA NA WA	604
rs1048490^1,2	C,F,O,A,H	--	133722281(+)	`CATTAC/TCATTT`	2	--	ut3¹		28		MN NS EA NA WA CSA	2628
rs145745086^1,2		--	133722323(+)	`TTTTAC/TTCAGA`	2	--	ut3¹		0	--	--	--	--
rs117253199^1,2		--	133722473(+)	`AAAGCG/ACATTG`	2	--	ut3¹		1		NA	120
rs117610593^1,2		--	133722548(+)	`TGAAAG/AGTAAT`	2	--	ut3¹		1		EA	120

HapMap Linkage Disequilibrium report for TMEM71 (133697253 - 133772958 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for TMEM71
5 Indels: 100507 13122 28790 47463 13123

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMEM71

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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

(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 TMEM71 gene integrated from 9 sources:
(articles sorted by number of sources associating them with TMEM71)

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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
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)

(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: 137835	HGNC: 26572	AceView: FLJ33069	Ensembl:ENSG00000165071	euGenes: HUgn137835
ECgene: TMEM71	H-InvDB: TMEM71

(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 TMEM71	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TMEM71 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TMEM71 gene:
Search GeneIP for patents involving TMEM71

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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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)
About This Section


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	GenScript Custom Purified and Recombinant Proteins Services for TMEM71		GenScript cDNA clones with any tag delivered in your preferred vector for TMEM71
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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM71

	SwitchGear 3'UTR luciferase reporter plasmids for TMEM71
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM71

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TMEM71

Sirion Biotech Customized:

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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes TMEM71 gene at Home site.

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TMEM71 Gene

transmembrane protein 71

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TMEM71 Gene

transmembrane protein 71

Aliasesfor TMEM71 gene

Summariesfor TMEM71 gene

Genomic Viewsfor TMEM71 gene

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Protein Domains /Familiesfor TMEM71 gene

Functionfor TMEM71 gene

Pathways & Interactionsfor TMEM71 gene

Drugs & Compoundsfor TMEM71 gene

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Expression for TMEM71 gene

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Genome Databases showing TMEM71 gene

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Specialized Databases showing TMEM71 gene

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for TMEM71 gene

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for TMEM71 gene

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for TMEM71 gene

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for TMEM71 gene

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for TMEM71 gene

Pathways & Interactions
for TMEM71 gene

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for TMEM71 gene

Transcripts
for TMEM71 gene

Expression
for TMEM71 gene

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for TMEM71 gene

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for TMEM71 gene

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for TMEM71 gene

Disorders / Diseases
for TMEM71 gene

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for TMEM71 gene

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for TMEM71 gene

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for TMEM71 gene