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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TMEM40 Gene

protein-coding GIFtS: 41
GCID: GC03M012751

transmembrane protein 40

Search for TMEM40
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 40¹ ²
FLJ11036¹

External Ids:	HGNC: 25620¹	Entrez Gene: 55287²	Ensembl: ENSG00000088726⁷	UniProtKB: Q8WWA1³

Export aliases for TMEM40 gene to outside databases

(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_000003.11 NC_018914.1 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TMEM40 gene promoter:
Max1 AP-1 GCNF ATF-2 NCX/Ncx AP-4 CRE-BP1 GCNF-1 GCNF-2 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TMEM40 promoter sequence

Search SABiosciences Chromatin IP Primers for TMEM40

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM40

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

Entrez Gene cytogenetic band: 3p25.2 Ensembl cytogenetic band: 3p25.2 HGNC cytogenetic band: 3p25.2

TMEM40 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM40 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M012751: view genomic region (about GC identifiers)

Start:	12,775,024 bp from pter	End:	12,810,956 bp from pter
Size:	35,933 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: TMM40_HUMAN, Q8WWA1 (See protein sequence)

Recommended Name: Transmembrane protein 40

Size: 233 amino acids; 25495 Da

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: Q8NAL4 Q9NUZ4

Alternative splicing: 2 isoforms: Q8WWA1-1 Q8WWA1-2

Explore the universe of human proteins at neXtProt for TMEM40: NX_Q8WWA1

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8WWA1

TMEM40 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_060776.2

ENSEMBL proteins:

ENSP00000322837 ENSP00000396895 ENSP00000405740 ENSP00000392140 ENSP00000264728

ENSP00000407396

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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	--

TMEM40 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for TMEM40

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

TMEM40 for domains About GeneDecksing

1 InterPro domain/family:

IPR026181 TMEM40

Graphical View of Domain Structure for InterPro Entry Q8WWA1

ProtoNet protein and cluster: Q8WWA1

(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

miRNA Products:		OriGene 3'-UTR Clone: TMEM40 Browse MicroRNA Expression Plasmids
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		7 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM40:
		hsa-miR-661 hsa-miR-370 hsa-miR-3202 hsa-miR-1252 hsa-miR-323-5p hsa-miR-24 hsa-miR-548q
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1 GenomeRNAi human phenotype for TMEM40:

High actin ratio cells

(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 TMEM40

(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 TMEM40
Search CenterWatch for drugs/clinical trials and news about TMEM40 / TMM40

(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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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 TMEM40 gene:

NM_018306.2

Unigene Cluster for TMEM40:

Transmembrane protein 40

Hs.475502 [show with all ESTs]

Unigene Representative Sequence: NM_018306

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

ENST00000314124(uc003bxg.1 uc003bxh.1 uc011auv.1) ENST00000435575

ENST00000435218 ENST00000476331 ENST00000428020 ENST00000480698 ENST00000264728

ENST00000485124 ENST00000431022

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		7 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM40:
		hsa-miR-661 hsa-miR-370 hsa-miR-3202 hsa-miR-1252 hsa-miR-323-5p hsa-miR-24 hsa-miR-548q
		SwitchGear 3'UTR luciferase reporter plasmid: TMEM40 3' UTR sequence

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Additional cDNA sequence:

AK001898.1 AK092470.1 AK301984.1 BC020658.1

4 DOTS entries:

DT.100021732 DT.208752 DT.91747776 DT.65286951

24/65 AceView cDNA sequences (see all 65):

CR621156 AI188578 BX091636 CR619000 BM017019 NM_018306 CR621342 AW135913

BF056052 BX458401 AX747561 BU680331 CR596715 BC020658 CR609175 AI651792

AK092470 BG319500 BG335433 BG677586 AI609611 BM845135 BG336861 BU929141

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

TMEM40 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGGCTCACA

About this image

TMEM40 expression in embryonic tissues and stem cells

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

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Yolk Sac

Definitive Yolk Sac

Definitive Hematopoietic Stem Cells

Blood

Liver

Liver Lobule

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor T42 (Embryonic Progenitor Cell)

See TMEM40 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TMEM40

SOURCE GeneReport for Unigene cluster: Hs.475502

SABiosciences Custom PCR Arrays for TMEM40

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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 human and mouse.

Orthologs for TMEM40 gene from 1/6 species (see all 6) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tmem40^{1 , 5}	transmembrane protein 40^{1, 5}	80.42(n)¹ 78.92(a)¹		6 (53.68 cM)⁵ 94346¹ NM_001168256.1¹ NP_001161728.1¹ 115729131⁵

ENSEMBL Gene Tree for TMEM40 (if available)
TreeFam Gene Tree for TMEM40 (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 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs143888611^1,2	C,	--	12774898(+)	`AAGAA-/AAAG AAAGA`	1	--	ds500¹		0	--	--	--	--
rs67698281^1,2	C,F,	--	12774921(+)	`AGAAAG/TAAAAT`	1	--	ds500¹		5		WA CSA NA EA	362
rs115727292^1,2	F,	--	12774934(+)	`AATCAC/TAGCCA`	1	--	ds500¹		1		WA	118
rs7626048^1,2	C,F,A,H,	--	12775265(+)	`TTGCTG/AACAGT`	1	--	ds500¹ ese³		12		NS EA NA WA	1382
rs113231678^1,2	C,	--	12775268(+)	`CTGACG/AGTAGG`	1	--	ds500¹		1		CSA	2
rs4684873^1,2	C,F,A,H,	--	12775428(+)	`AGAAAG/CGATCT`	1	--	ut3¹		12		NA WA CSA EA	260
rs138496707^1,2		--	12775565(+)	`TGTACC/TGCCAC`	1	--	ut3¹		0	--	--	--	--
rs191855001^1,2		--	12775596(+)	`TTGTAA/GAGATG`	1	--	ut3¹		0	--	--	--	--
rs182996297^1,2		--	12775634(+)	`TCTTGA/CACTCT`	1	--	ut3¹		0	--	--	--	--
rs186721457^1,2	C,	--	12775693(+)	`AGTTGC/TGAGCC`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TMEM40 (12775024 - 12810956 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for TMEM40
4 CNVs: 53782 9446 29726 8414
1 Inversion: 37239

SABiosciences Cancer Mutation PCR Assays

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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 TMEM40 gene integrated from 9 sources:
(articles sorted by number of sources associating them with TMEM40)

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)
Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)^{1, 2} Gevaert K.... Vandekerckhove J. (2003)
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)
Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment. (PubMed id 19367720)² Carrascal M.... Abian J. (2008)
Comparative gene expression profiling of in vitro differentiated megakaryocytes and erythroblasts identifies novel activatory and inhibitory platelet membrane proteins. (PubMed id 17192395)¹ Macaulay I.C....Ouwehand W.H. (2007)

(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: 55287	HGNC: 25620	AceView: FLJ11036	Ensembl:ENSG00000088726	euGenes: HUgn55287
ECgene: TMEM40	H-InvDB: TMEM40

(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 TMEM40	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TMEM40 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TMEM40 gene:
Search GeneIP for patents involving TMEM40

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),
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About This Section


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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

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

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TMEM40 Gene

transmembrane protein 40

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TMEM40 Gene

transmembrane protein 40

Aliasesfor TMEM40 gene

Summariesfor TMEM40 gene

Genomic Viewsfor TMEM40 gene

Proteinsfor TMEM40 gene

Protein Domains /Familiesfor TMEM40 gene

Functionfor TMEM40 gene

Pathways & Interactionsfor TMEM40 gene

Drugs & Compoundsfor TMEM40 gene

Transcriptsfor TMEM40 gene

Expression for TMEM40 gene

Orthologsfor TMEM40 gene

Paralogsfor TMEM40 gene

Genomic Variantsfor TMEM40 gene

Disorders / Diseasesfor TMEM40 gene

Publicationsfor TMEM40 gene

External Searches for TMEM40 gene

Genome Databases showing TMEM40 gene

Other Databases showing TMEM40 gene

Specialized Databases showing TMEM40 gene

Intellectual Propertyfor TMEM40 gene

Productsfor TMEM40 gene

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Aliases
for TMEM40 gene

Summaries
for TMEM40 gene

Genomic Views
for TMEM40 gene

Proteins
for TMEM40 gene

Protein Domains /
Families
for TMEM40 gene

Function
for TMEM40 gene

Pathways & Interactions
for TMEM40 gene

Drugs & Compounds
for TMEM40 gene

Transcripts
for TMEM40 gene

Expression
for TMEM40 gene

Orthologs
for TMEM40 gene

Paralogs
for TMEM40 gene

Genomic Variants
for TMEM40 gene

Disorders / Diseases
for TMEM40 gene

Publications
for TMEM40 gene

Intellectual Property
for TMEM40 gene

Products
for TMEM40 gene