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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TSPAN7 Gene

protein-coding GIFtS: 56
GCID: GC0XP038420

tetraspanin 7

(Previous names: transmembrane 4 superfamily member 2, mental retardation,...)
(Previous symbols: MXS1, TM4SF2, MRX58)

Explore 29 diseases affiliated with
TSPAN7 via

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
Tetraspanin 7¹ ²		T-Cell Acute Lymphoblastic Leukemia-Associated Antigen 1² ³
A15¹ ² ³ ⁵		Mental Retardation, X-Linked 58¹
MXS1¹ ² ³ ⁵		CCG-B7²
TM4SF2¹ ² ³ ⁵		TM4SF2b²
Transmembrane 4 Superfamily Member 2¹ ² ³		Membrane Component, X Chromosome, Surface Marker 1²
DXS1692E¹ ² ³		T-Cell Acute Lymphoblastic Leukemia Associated Antigen 1²
TALLA-1¹ ² ³		Tetraspanin Protein²
MRX58¹ ² ⁵		Tetraspanin-7¹
CD231¹ ²		Transmembrane 4 Superfamily 2b²
Cell Surface Glycoprotein A15² ³		Transmembrane Protein A15²
Membrane Component Chromosome X Surface Marker 1² ³		Tspan-7³
CD231 Antigen² ³		Tspan-7³

External Ids:	HGNC: 11854¹	Entrez Gene: 7102²	Ensembl: ENSG00000156298⁷	OMIM: 300096⁵	UniProtKB: P41732³

Export aliases for TSPAN7 gene to outside databases

Previous GC identifers: GC00U921555 GC0XP038177 GC0XP038305 GC0XP037208 GC0XP036165

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

Entrez Gene summary for TSPAN7:

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family.

Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains.

The proteins mediate signal transduction events that play a role in the regulation of cell development, activation,

growth and motility. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite

outgrowth. It is known to complex with integrins. This gene is associated with X-linked mental retardation and

neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy. (provided by RefSeq,

Jul 2008)

UniProtKB/Swiss-Prot: TSN7_HUMAN, P41732

Function: May be involved in cell proliferation and cell motility

Gene Wiki entry for TSPAN7

(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_000023.10 NC_018934.1 NT_079573.4

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TSPAN7 gene promoter:
AML1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TSPAN7 promoter sequence

Search SABiosciences Chromatin IP Primers for TSPAN7

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TSPAN7

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

Entrez Gene cytogenetic band: Xp11.4 Ensembl cytogenetic band: Xp11.4 HGNC cytogenetic band: Xp11.4

TSPAN7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TSPAN7 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP038420: view genomic region (about GC identifiers)

Start:	38,420,623 bp from pter	End:	38,548,172 bp from pter
Size:	127,550 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: TSN7_HUMAN, P41732 (See protein sequence)

Recommended Name: Tetraspanin-7

Size: 249 amino acids; 27574 Da

Subunit: Interacts with herpes simplex virus 1 (HHV-1) UL35

Subcellular location: Membrane; Multi-pass membrane protein

Sequence caution: Sequence=BAA01501.1; Type=Erroneous initiation; Sequence=BAA06191.1; Type=Erroneous initiation;

Secondary accessions: B2R5W7 D3DWB1 Q8WVG5 Q9UEY9

Explore the universe of human proteins at neXtProt for TSPAN7: NX_P41732

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P41732

TSPAN7 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004606.2

ENSEMBL proteins:

ENSP00000367743 ENSP00000419290 ENSP00000419321 ENSP00000418586 ENSP00000286824

ENSP00000388954 ENSP00000441540

Human Recombinant Protein Products for TSPAN7:

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	Novus Biologicals TSPAN7 Proteins Novus Biologicals TSPAN7 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TSPAN7

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005887	integral to plasma membrane	TAS	8420826
GO:0016021	integral to membrane	--	--

TSPAN7 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for TSPAN7

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

TSPAN7 for domains About GeneDecksing

4 InterPro domains/families:

IPR018499 Tetraspanin/Peripherin

IPR018503 Tetraspanin_CS

IPR000301 Tetraspanin

IPR008952 Tetraspanin_EC2

Graphical View of Domain Structure for InterPro Entry P41732

ProtoNet protein and cluster: P41732

1 Blocks protein family: IPB000301 Transmembrane four family signature

UniProtKB/Swiss-Prot: TSN7_HUMAN, P41732

Similarity: Belongs to the tetraspanin (TM4SF) 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

Molecular Function:

UniProtKB/Swiss-Prot Summary: TSN7_HUMAN, P41732

Function: May be involved in cell proliferation and cell motility

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TSPAN7

miRNA Products:		OriGene 3'-UTR Clone: TSPAN7 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TSPAN7
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate TSPAN7:
		hsa-miR-3146 hsa-miR-4305 hsa-miR-374c hsa-miR-338-5p hsa-miR-655 hsa-miR-1264 hsa-miR-194 hsa-miR-543

		SwitchGear 3'UTR luciferase reporter plasmid: TSPAN7 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TSPAN7 (see all 7) OriGene shRNA RFP: TSPAN7 OriGene siRNA: TSPAN7
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TSPAN7 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TSPAN7 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSPAN7

(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 TSPAN7

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

5 Interacting proteins for TSPAN7 (P41732^{2, 3} ENSP00000367743⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FYTTD1	Q96QD9²^,³, ENSP00000241502⁴	MINT-65312 I2D: score=3 STRING: ENSP00000241502
KPTN	Q9Y664³, ENSP00000337850⁴	I2D: score=1 STRING: ENSP00000337850
RBL1	P28749³, ENSP00000362768⁴	I2D: score=1 STRING: ENSP00000362768
CACNA1A	O00555³	I2D: score=1
CREB3	O43889³	I2D: score=1

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0019048	virus-host interaction	IEA	--
GO:0044419	interspecies interaction between organisms	--	--

TSPAN7 for ontologies About GeneDecksing

(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

TSPAN7 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TSPAN7
4 Novoseek chemical compound relationships for TSPAN7 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
matrigel	26.8	1	10491398 (1)
phosphoinositide	19.8	1	11042117 (1)
lipid	10.7	3	17727684 (1), 11113129 (1), 16753027 (1)
cholesterol	6.91	1	15496196 (1)

Search CenterWatch for drugs/clinical trials and news about TSPAN7 / TSN7

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
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 TSPAN7 gene:

NM_004615.3

Unigene Cluster for TSPAN7:

Tetraspanin 7

Hs.441664 [show with all ESTs]

Unigene Representative Sequence: AB062057

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

ENST00000378482(uc004deg.4 uc011mkj.2 uc011mkk.2) ENST00000471410

ENST00000480976 ENST00000475216 ENST00000286824 ENST00000488893 ENST00000494037

ENST00000419600 ENST00000422612 ENST00000545599

miRNA Products:		OriGene 3'-UTR Clone: TSPAN7 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TSPAN7
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate TSPAN7:
		hsa-miR-3146 hsa-miR-4305 hsa-miR-374c hsa-miR-338-5p hsa-miR-655 hsa-miR-1264 hsa-miR-194 hsa-miR-543

		SwitchGear 3'UTR luciferase reporter plasmid: TSPAN7 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TSPAN7 (see all 7) OriGene shRNA RFP: TSPAN7 OriGene siRNA: TSPAN7
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TSPAN7
		Sirion Biotech Custom design and validation of potent shRNA sequences against TSPAN7

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TSPAN7 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TSPAN7 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: TSPAN7 (NM_004615)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TSPAN7
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TSPAN7

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TSPAN7 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TSPAN7
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TSPAN7

Additional cDNA sequence:

AB062057.1 AB102665.1 AF147326.1 AK293178.1 AK293534.1 AK293552.1 AK312343.1 BC018036.1

D10653.1 D29808.1 L10373.1

24/26 DOTS entries (see all 26):

DT.100825949 DT.100825963 DT.418809 DT.92458951 DT.95180519 DT.92458947 DT.95180514 DT.102827049

DT.100825965 DT.100825962 DT.97848331 DT.100825973 DT.101970988 DT.121280495 DT.40230686 DT.95180525

DT.100658660 DT.100825958 DT.100825961 DT.121280466 DT.121280480 DT.121280491 DT.121280515 DT.40297344

24/563 AceView cDNA sequences (see all 563):

CB153293 BP350171 BU784999 AI816506 D55834 CR613148 BP348331 AA306133

CK003444 CR598598 BM907933 AB102665 AI584149 BU151413 CR610848 CA943758

AA322725 BQ716729 CR617607 AA322362 AA323468 CD556615 AW090504 CA840892

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

TSPAN7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCAACAAGAA

About this image

TSPAN7 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Antral Follicle

Cumulus Cells

Ovary

Brain

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

Late limb mesenchymal cells (LLM cells) (Primary Cell)

Bone, Cartilage, Limb

PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)

Blood, Endothelium

PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)

Endothelium

N2/LSB/S/F8/CHIR-induced cells (Generation of midbra...)

Nkx2-1 GFP+ cells (Efficient derivation...)

See TSPAN7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TSPAN7

SOURCE GeneReport for Unigene cluster: Hs.441664

UniProtKB/Swiss-Prot: TSN7_HUMAN, P41732

Tissue specificity: Not solely expressed in T-cells. Expressed in acute myelocytic leukemia cells of some patients

SABiosciences Custom PCR Arrays for TSPAN7

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TSPAN7 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TSPAN7

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSPAN7

(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 TSPAN7 gene from 5/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TSPAN7⁶	Uncharacterized protein	92(a)	1 → many	1(116329009-116417750)
lizard (Anolis carolinensis)	Reptilia	--	--	86(a)	1 → many	3(132586791-132615071)
African clawed frog (Xenopus laevis)	Amphibia	tm4sf2-prov²	transmembrane 4 superfamily member 2	81.99(n)		BC044697.1
zebrafish (Danio rerio)	Actinopterygii	wufb53h11²	wufb53h11	80.31(n)		322231 CK362475.1
fruit fly (Drosophila melanogaster)	Insecta	Tsp86D⁶ Tsp3A⁶	Tetraspanin 3A	23(a) 22(a)	possible ortholog possible ortholog	3R(6694435-6696277) X(2511791-2513771)

ENSEMBL Gene Tree for TSPAN7 (if available)
TreeFam Gene Tree for TSPAN7 (if available)

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

Paralogs for TSPAN7 gene

CD151² TSPAN1² CD37² TSPAN6² TSPAN9² TSPAN3² CD63² CD53²

CD82² TSPAN18² TSPAN4² TSPAN11² ENSG00000250349² TSPAN8²

15 SIMAP similar genes for TSPAN7 using alignment to 7 protein entries: TSN7_HUMAN (see all proteins):

TM4SF2 TSPAN6 CD63 CD151 TSPAN8 TSPAN33

CD82 TSPAN17 TSPAN1 TSPAN3 TM4SF9 TSPAN11

TSPAN18 TSPAN9 TSPAN5

TSPAN7 for paralogs About GeneDecksing

(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 X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894951^1,2	C,F	pathogenic	38535032(+)	`CCCCCC/ACAGCT`	2	/H /P	mis¹		1		NA	4548
rs104894950^1,2	C	pathogenic	38540512(+)	`TCGCTG/TGAGTG`	2	G *	stg¹		0	--	--	--	--
rs3761570^1,2	C,A	--	38418786(-)	`TCCGCT/GTTTTA`	1	--	us2k¹		4		WA NA CSA	7
rs1040350^1,2	C,F,O,A,H	--	38419130(+)	`ACCTTA/GGCAGG`	1	--	us2k¹		24		NA EA MN NS WA	2778
rs181030312^1,2		--	38419156(+)	`ATTGAC/TTCTGT`	1	--	us2k¹		0	--	--	--	--
rs1534857^1,2	C,A	--	38419319(+)	`ATGTAT/CGTTTT`	1	--	us2k¹		2		WA	4
rs60419486^1,2	C	--	38419501(+)	`CCACTC/TGCTGC`	1	--	us2k¹		0	--	--	--	--
rs144825501^1,2		--	38419502(+)	`CACTCA/GCTGCA`	1	--	us2k¹		0	--	--	--	--
rs1040351^1,2	C,F	--	38419696(+)	`ATGGAT/GGCACC`	1	--	us2k¹		3		NA WA	6
rs186438261^1,2		--	38419790(+)	`ATTCAC/TGTATA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TSPAN7 (38420623 - 38548172 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for TSPAN7
1 CNV: 34415
Human Gene Mutation Database (HGMD): TSPAN7

SABiosciences Cancer Mutation PCR Assays

1 SABiosciences qBiomarker Copy Number PCR Array containing TSPAN7:

Intellectual Disability

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TSPAN7

DNA2.0 Custom Variant and Variant Library Synthesis for TSPAN7

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

TSPAN7 for disorders           About GeneDecksing

OMIM gene information: 300096
OMIM disorders: 300210
UniProtKB/Swiss-Prot: TSN7_HUMAN, P41732

Defects in TSPAN7 are the cause of mental retardation X-linked type 58 (MRX58) [MIM:300210]. Mental

retardation is characterized by significantly sub-average general intellectual functioning associated with impairments

in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do

not manifest other clinical signs

20/29 diseases for TSPAN7 (see all 29): About MalaCards

mental retardation, x-linked acute lymphoblastic leukemia lymphoblastic leukemia desmoplastic small round cell tumor

miliaria rubra fragile x syndrome miliaria myotonic dystrophy

leukemia spastic hemiplegia chorea autism spectrum disorder

hemiplegia intellectual disability macular degeneration spasticity

wilms tumor myeloid malignancy melanoma metastasis melanoma

2 diseases from the University of Copenhagen DISEASES database for TSPAN7:

Miliaria rubra Intellectual disability

4 Novoseek disease relationships for TSPAN7 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
metastasis	24.7	3	16271511 (1), 16331263 (1), 18415123 (1)
tumors	13.5	3	17018612 (1), 14633590 (1), 16537545 (1)
prostate cancer	0	1	16331263 (1)
cancer	0	1	17727684 (1)

Human Genome Epidemiology (HuGE) Navigator: TSPAN7 (1 document)

Export disorders for TSPAN7 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 TSPAN7 gene, integrated from 9 sources (see all 84):
(articles sorted by number of sources associating them with TSPAN7)

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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. (PubMed id 10655063)^{1, 2, 9} Zemni R.... Chelly J. (2000)
Egress of HSV-1 capsid requires the interaction of VP 26 and a cellular tetraspanin membrane protein. (PubMed id 20630051)^{1, 2} Wang L....Li Q. (2010)
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)
A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58. (PubMed id 12070254)^{1, 3} Abidi F.E....Schwartz C.E. (2002)
Identification of a highly specific surface marker of T-cell acute lymphoblastic leukemia and neuroblastoma as a new member of the transmembrane 4 superfamily. (PubMed id 7768645)^{1, 2} Takagi S.... Yoshie O. (1995)
Isolation of a novel cDNA clone showing marked similarity to ME491/CD63 superfamily. (PubMed id 8420826)^{1, 2} Emi N.... Takahashi T. (1993)
Chromosomal localization of three human genes coding for A15, L6, and S5.7 (TAPA1): all members of the transmembrane 4 superfamily of proteins. (PubMed id 8168850)^{1, 9} Virtaneva K.I....Schroder J.P. (1994)
Modulation of human immunodeficiency virus type 1 infectivity through incorporation of tetraspanin proteins. (PubMed id 17989173)^{1, 9} Sato K....Koyanagi Y. (2008)
Novel partners of SPAG11B isoform D in the human male reproductive tract. (PubMed id 19535787)^{1, 9} Radhakrishnan Y....French F.S. (2009)
The X-linked intellectual disability protein TSPAN7 re gulates excitatory synapse development and AMPAR trafficking. (PubMed id 22445342)¹ Bassani S....Passafaro M. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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: 7102	HGNC: 11854	AceView: TM4SF2	Ensembl:ENSG00000156298	euGenes: HUgn7102
ECgene: TSPAN7	H-InvDB: TSPAN7

(According to HUGE)
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(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 TSPAN7	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TSPAN7	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TSPAN7

Intellectual Property for TSPAN7 gene
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Patent Information for TSPAN7 gene:
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TSPAN7 Gene

tetraspanin 7

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TSPAN7 (Gene Symbol)
Tetraspanin 7
A15
MXS1
TM4SF2
Transmembrane 4 Superfamily Member 2
DXS1692E
TALLA-1
MRX58
CD231
Cell Surface Glycoprotein A15
Membrane Component Chromosome X Surface Marker 1
CD231 Antigen
T-Cell Acute Lymphoblastic Leukemia-Associated Antigen 1
Mental Retardation, X-Linked 58
CCG-B7
TM4SF2b
Membrane Component, X Chromosome, Surface Marker 1
T-Cell Acute Lymphoblastic Leukemia Associated Antigen 1
Tetraspanin Protein
Tetraspanin-7
Transmembrane 4 Superfamily 2b
Transmembrane Protein A15
Tspan-7
Tspan-7

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TSPAN7 Gene

tetraspanin 7

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