Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TM7SF2 Gene

protein-coding GIFtS: 60
GCID: GC11P064881

transmembrane 7 superfamily member 2

Explore 8 diseases affiliated with
TM7SF2 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
Transmembrane 7 Superfamily Member 2¹ ² ³		C-14 Sterol Reductase² ³
ANG1¹ ² ³ ⁵		EC 1.3.1.70³ ⁸
DHCR14A¹ ²		Delta(14)-Sterol Reductase²
NET47¹ ²		Delta-14-SR³
Another New Gene 1 Protein² ³		Delta-14-SR³
Putative Sterol Reductase SR-1² ³		EC 1.3.1⁸
Sterol C14-Reductase² ³

External Ids:	HGNC: 11863¹	Entrez Gene: 7108²	Ensembl: ENSG00000149809⁷	OMIM: 603414⁵	UniProtKB: O76062³

Export aliases for TM7SF2 gene to outside databases

Previous GC identifers: GC11P067395 GC11P066560 GC11P065129 GC11P064654 GC11P064635 GC11P061206

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

UniProtKB/Swiss-Prot: ERG24_HUMAN, O76062

Function: Involved in the conversion of lanosterol to cholesterol

Gene Wiki entry for TM7SF2

(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_000011.9 NC_018922.1 NT_167190.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TM7SF2 gene promoter:
NF-1/L NF-1 Bach2 C/EBPalpha c-Ets-1 Max HSF2 PPAR-gamma2 ATF c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TM7SF2 promoter sequence

Search SABiosciences Chromatin IP Primers for TM7SF2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TM7SF2

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

Entrez Gene cytogenetic band: 11q13 Ensembl cytogenetic band: 11q13.1 HGNC cytogenetic band: 11q13.1

TM7SF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TM7SF2 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P064881: view genomic region (about GC identifiers)

Start:	64,879,317 bp from pter	End:	64,883,856 bp from pter
Size:	4,540 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: ERG24_HUMAN, O76062 (See protein sequence)

Recommended Name: Delta(14)-sterol reductase

Size: 418 amino acids; 46406 Da

Subcellular location: Microsome membrane; Multi-pass membrane protein (By similarity). Endoplasmic reticulum membrane;

Multi-pass membrane protein

Sequence caution: Sequence=AAC21450.1; Type=Miscellaneous discrepancy; Note=Sequencing errors; Sequence=AAC21457.1;

Type=Miscellaneous discrepancy; Note=Sequencing errors;

Secondary accessions: A8K4H0 O95982 Q8IY06 Q96E64 Q96GZ1

Alternative splicing: 2 isoforms: O76062-1 O76062-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TM7SF2: NX_O76062

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O76062

2 DME Specific Peptides for TM7SF2 (O76062)

HLLPYFY

VPFTYSLQA

TM7SF2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_003264.2

ENSEMBL proteins:

ENSP00000432171 ENSP00000279263 ENSP00000435972 ENSP00000432187 ENSP00000435458

ENSP00000433325 ENSP00000329520 ENSP00000431300 ENSP00000436370 ENSP00000433275

ENSP00000434447 ENSP00000432413 ENSP00000434598 ENSP00000431685 ENSP00000436233

ENSP00000441215

Reactome Protein details: O76062
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: TM7SF2 OriGene Custom Protein Services for TM7SF2
	GenScript Custom Purified and Recombinant Proteins Services for TM7SF2
	Novus Biologicals TM7SF2 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TM7SF2

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005783	endoplasmic reticulum	TAS	9878250
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	--	--
GO:0005887	integral to plasma membrane	TAS	9878250
GO:0016020	membrane	--	--

TM7SF2 for ontologies About GeneDecksing

TM7SF2 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of TM7SF2
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for TM7SF2
	GenScript Custom Superior Antibodies Services for TM7SF2
	Novus Biologicals TM7SF2 Antibodies
	Search for Antibodies for TM7SF2 at Abcam
	Uscn Antibodies for TM7SF2
	Search ThermoFisher Antibodies for TM7SF2

Assay Products for TM7SF2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for TM7SF2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for TM7SF2

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

TM7SF2 for domains About GeneDecksing

2 InterPro domains/families:

IPR018083 Sterol_reductase_CS

IPR001171 Ergosterol_biosynth_ERG4_ERG24

Graphical View of Domain Structure for InterPro Entry O76062

ProtoNet protein and cluster: O76062

1 Blocks protein family: IPB001171 ERG4/ERG24 ergosterol biosynthesis protein

UniProtKB/Swiss-Prot: ERG24_HUMAN, O76062

Similarity: Belongs to the ERG4/ERG24 family

(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

Function Summary:

UniProtKB/Swiss-Prot: ERG24_HUMAN, O76062

Function: Involved in the conversion of lanosterol to cholesterol

Catalytic activity: 4,4-dimethyl-5-alpha-cholesta-8,24-dien-3-beta-ol + NADP(+) =

4,4-dimethyl-5-alpha-cholesta-8,14,24-trien-3-beta-ol + NADPH

Genatlas biochemistry entry for TM7SF2:

seven pass transmembrane superfamily,member 2,located in the endoplasmic reticulum and continuous outer nuclear

membrane,widely expressed,G protein coupled receptor superfamily in the MEN1 region,LBR superfamily

Enzyme Numbers (IUBMB): EC 1.3.1.70¹ ² EC 1.3.1²

miRNA Products:		OriGene 3'-UTR Clone: TM7SF2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TM7SF2
		1 QIAGEN miScript miRNA Assays for microRNA that regulate TM7SF2:
		hsa-miR-3921
		SwitchGear 3'UTR luciferase reporter plasmid: TM7SF2 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 TM7SF2 (see all 7) OriGene shRNA RFP: TM7SF2 OriGene siRNA: TM7SF2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TM7SF2

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for TM7SF2

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 TM7SF2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TM7SF2 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: TM7SF2 (NM_003273)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TM7SF2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TM7SF2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TM7SF2
		Search LifeMap BioReagents cell lines for TM7SF2

In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for TM7SF2

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	--	--
GO:0050613	delta14-sterol reductase activity	IEA	--

TM7SF2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for TM7SF2:

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-outs for TM7SF2: Tm7sf2^tm1Fdp Tm7sf2^tm1Riro
11 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Tm7sf2):

behavior/neurological	craniofacial	digestive/alimentary	growth/size	hematopoietic system
homeostasis/metabolism	immune system	limbs/digits/tail	mortality/aging	nervous system
skeleton

TM7SF2 for phenotypes About GeneDecksing

(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

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

cholesterol biosynthesis III (via desmosterol)

cholesterol biosynthesis III (via desmosterol)	1.00	Steroid biosynthesis	0.60
cholesterol biosynthesis I	1.00	zymosterol biosynthesis	0.46
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)	1.00

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Regulation of Cholesterol Biosynthesis by SREBP (SREBF)

Regulation of Cholesterol Biosynthesis by SREBP (SREBF)

1.00

Activation of Gene Expression by SREBP (SREBF)

0.67

Cholesterol biosynthesis

Cholesterol biosynthesis

1.00

superpathway of cholesterol biosynthesis

0.81

Expression of Lathosterol Oxidase (SC5D, SC5DL)

Expression of TM7SF2

0.71

Pathway sources
See GeneCards unified pathways
Show all pathways

5 BioSystems Pathways for TM7SF2

	zymosterol biosynthesis
	superpathway of cholesterol biosynthesis
	cholesterol biosynthesis I
	cholesterol biosynthesis III (via desmosterol)
	cholesterol biosynthesis II (via 24,25-dihydrolanosterol)

5/6 Reactome Pathways for TM7SF2 (see all 6)

	Expression of TM7SF2
	Metabolism
	Cholesterol biosynthesis
	Activation of Gene Expression by SREBP (SREBF)
	Metabolism of lipids and lipoproteins

2 Kegg Pathways (Kegg details for TM7SF2):

	Steroid biosynthesis
	Metabolic pathways

TM7SF2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TM7SF2

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

5/20 Interacting proteins for TM7SF2 (O76062³ ENSP00000279263⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 20)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RAP2A	P10114³, ENSP00000245304⁴	I2D: score=2 STRING: ENSP00000245304
PLSCR1	O15162³	I2D: score=1
PXN	P49023³	I2D: score=1
DHCR24	ENSP00000360316⁴	STRING: ENSP00000360316
EBP	ENSP00000417052⁴	STRING: ENSP00000417052

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:0006695	cholesterol biosynthetic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

TM7SF2 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

TM7SF2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TM7SF2

6 HMDB Compounds for TM7SF2 About this table

Compound	Synonyms	CAS #	PubMed Ids
4,4-Dimethyl-5a-cholesta-8,24-dien-3-b-ol	14-demethyllanosterol (see all 11)	7448-02-4	--
4,4-Dimethylcholesta-8,14,24-trienol	(3beta,5alpha)-4,4-Dimethylcholesta-8,14,24-trien-3-ol (see all 11)	64284-64-6	--
4a-Methylfecosterol	4alpha-Methylfecosterol	--	--
Delta 8,14 -Sterol	4alpha-Methyl-5alpha-ergosta-8,14,24(28)-trien-3beta-ol (see all 5)	74635-33-9	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--
NADPH	2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)	53-57-6	--

2 Novoseek chemical compound relationships for TM7SF2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
fenpropimorph	88	1	12644676 (1)
sterol	74.8	7	10859167 (2), 16784888 (2), 9630650 (1), 11784322 (1)

Search CenterWatch for drugs/clinical trials and news about TM7SF2 / ERG24

(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, 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 TM7SF2 gene:

NM_003273.2

Unigene Cluster for TM7SF2:

Transmembrane 7 superfamily member 2

Hs.31130 [show with all ESTs]

Unigene Representative Sequence: AK296441

18/27 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):

ENST00000526809 ENST00000279263(uc001oct.3 uc010rny.2 uc001ocu.3)

ENST00000524986 ENST00000528026 ENST00000533766 ENST00000534371 ENST00000533646

ENST00000529601 ENST00000525385 ENST00000345348 ENST00000531321 ENST00000529292

ENST00000529414 ENST00000526085 ENST00000530650(uc001ocv.3) ENST00000530750

ENST00000524690 ENST00000530892

miRNA Products:		OriGene 3'-UTR Clone: TM7SF2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TM7SF2
		1 QIAGEN miScript miRNA Assays for microRNA that regulate TM7SF2:
		hsa-miR-3921
		SwitchGear 3'UTR luciferase reporter plasmid: TM7SF2 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 TM7SF2 (see all 7) OriGene shRNA RFP: TM7SF2 OriGene siRNA: TM7SF2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TM7SF2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TM7SF2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TM7SF2 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: TM7SF2 (NM_003273)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TM7SF2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TM7SF2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TM7SF2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat TM7SF2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TM7SF2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TM7SF2

Additional cDNA sequence:

AF096304.1 AK290935.1 AK296441.1 BC009052.1 BC012857.1 BC038353.1

16 DOTS entries:

DT.114124 DT.100814021 DT.100729221 DT.100814018 DT.100026250 DT.100814023 DT.97846353 DT.97846352

DT.95260356 DT.95226501 DT.102835684 DT.100814019 DT.100814022 DT.120731359 DT.95226487 DT.97801364

24/585 AceView cDNA sequences (see all 585):

AA360528 BX116091 BU526939 AA022454 BC010872 CR595034 BI259707 AL042569

BM806150 CR594174 BE795355 BG686283 AI355925 AI458806 AF024631 CR621135

BQ008926 BU682796 CR590553 BX343147 AI539419 CR604066 BG740270 CR612163

GeneLoc Exon Structure

5/18 Alternative Splicing Database (ASD) splice patterns (SP) for TM7SF2 (see all 18) About this scheme

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

ExUns:	8b	^	9a	·	9b	^	10	^	11a	·	11b	·	11c
SP1:	-						-
SP2:	-						-
SP3:	-						-
SP4:
SP5:	-

ECgene alternative splicing isoforms for TM7SF2

(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

TM7SF2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCCCACTCA

About this image

TM7SF2 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: 1 LifeMap Cell

Name

Category

PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TM7SF2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TM7SF2

SOURCE GeneReport for Unigene cluster: Hs.31130

UniProtKB/Swiss-Prot: ERG24_HUMAN, O76062

Tissue specificity: Expressed in adult heart, brain, pancreas, lung, liver, skeletal muscle, kidney, ovary, prostate,

and testis, but not detected in placenta, spleen, thymus, small intestine, colon (mucosal lining), or peripheral blood

leukocytes

SABiosciences Expression via Pathway-Focused PCR Array including TM7SF2:

Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TM7SF2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat TM7SF2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TM7SF2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TM7SF2

In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for TM7SF2

(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 eukaryotes.

Orthologs for TM7SF2 gene from 7/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	TM7SF2⁶	--	68(a)	1 ↔ 1	GL344606.1(19049-26968)
African clawed frog (Xenopus laevis)	Amphibia	MGC68849²	hypothetical protein MGC68849	72.96(n)		BC055976.1
zebrafish (Danio rerio)	Actinopterygii	tm7sf2¹	transmembrane 7 superfamily member 2	61.38(n) 64.88(a)		494054 NM_001008597.1 NP_001008597.1
fruit fly (Drosophila melanogaster)	Insecta	LBR⁶	Lamin B receptor	14(a)	1 → many	2R(17608002-17611564)
worm (Caenorhabditis elegans)	Secernentea	dhcr-7⁶	Protein DHCR-7; Sterol reductase	21(a)	1 → many	V(20480761-20485354)
thale cress (Arabidopsis thaliana)	eudicotyledons	FK¹	delta(14)-sterol reductase	46.14(n) 43.22(a)		824460 NM_115154.2 NP_566975.1
rice (Oryza sativa)	Liliopsida	-- --	delta14-sterol reductase, putative, expressed	39(a) 38(a)	possible ortholog possible ortholog	9(22536132-22540257) 1(14223870-14232630)

ENSEMBL Gene Tree for TM7SF2 (if available)
TreeFam Gene Tree for TM7SF2 (if available)

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

Paralogs for TM7SF2 gene

LBR² DHCR7²

2 SIMAP similar genes for TM7SF2 using alignment to 15 protein entries: ERG24_HUMAN (see all proteins):

LBR DHCR7

TM7SF2 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 11 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs55865100^1,2	C	--	64881785(+)	`GCCACC/-ACTGA`	1	--	int¹		1	NA	2

HapMap Linkage Disequilibrium report for TM7SF2 (64879317 - 64883856 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TM7SF2: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TM7SF2

DNA2.0 Custom Variant and Variant Library Synthesis for TM7SF2

(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

TM7SF2 for disorders           About GeneDecksing

OMIM gene information: 603414    OMIM disorders: --

8 diseases for TM7SF2:    About MalaCards

multiple endocrine neoplasia tumors of adrenal cortex follicular adenoma adrenocortical carcinoma

adenoma cholesterol prostatitis carcinoma

1 disease from the University of Copenhagen DISEASES database for TM7SF2:

Adrenocortical carcinoma

Human Genome Epidemiology (HuGE) Navigator: TM7SF2 (1 document)

Export disorders for TM7SF2 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 TM7SF2 gene, integrated from 9 sources (see all 19):
(articles sorted by number of sources associating them with TM7SF2)

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

Identification and molecular characterization of TM7SF2 in the FAUNA gene cluster on human chromosome 11q13. (PubMed id 9615229)^{1, 2, 3, 9} Lemmens I.H.... Van de Ven W.J.M. (1998)
The human lamin B receptor/sterol reductase multigene family. (PubMed id 9878250)^{1, 2, 9} Holmer L.... Worman H.J. (1998)
Cloning and expression of sterol Delta14-reductase from bovine liver. (PubMed id 11784322)^{1, 2, 9} Roberti R.... Servillo G. (2002)
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)
Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. (PubMed id 9286704)^{1, 3} Lemmens I....Thakker R.V. (1997)
Genes encoding chimeras of Neurospora crassa erg-3 and human TM7SF2 proteins fail to complement Neurospora and yeast sterol C-14 reductase mutants. (PubMed id 11937680)^{1, 9} Prakash A. and Kasbekar D.P. (2002)
Sterol dependent regulation of human TM7SF2 gene expression: role of the encoded 3beta-hydroxysterol Delta14-reductase in human cholesterol biosynthesis. (PubMed id 16784888)^{1, 9} Bennati A.M....Roberti R. (2006)
Activation of TM7SF2 promoter by SREBP-2 depends on a new sterol regulatory element, a GC-box, and an inverted CCAAT-box. (PubMed id 20138239)¹ Schiavoni G....Roberti R. (2010)
Induction of a massive endoplasmic reticulum and peri nuclear space expansion by expression of lamin B receptor mutants and the relat ed sterol reductases TM7SF2 and DHCR7. (PubMed id 19940018)¹ Zwerger M....Herrmann H. (2010)
Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)¹ Lu Y....Boer J.M. (2008)

(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: 7108	HGNC: 11863	AceView: TM7SF2andC11orf2	Ensembl:ENSG00000149809	euGenes: HUgn7108
ECgene: TM7SF2	Kegg: 7108	H-InvDB: TM7SF2

(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 TM7SF2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TM7SF2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TM7SF2 gene:
Search GeneIP for patents involving TM7SF2

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

	Browse for Gene Knock-down Tools from EMD Millipore
	Browse Small Molecules at EMD Millipore
	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
	Browse Kits and Assays available from EMD Millipore
	EMD Millipore Mono- and Polyclonal Antibodies for the study of TM7SF2

	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for TM7SF2
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TM7SF2		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TM7SF2
	OriGene Protein Over-expression Lysate for TM7SF2		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for TM7SF2		OriGene 3'-UTR Clone for TM7SF2
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TM7SF2		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TM7SF2
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for TM7SF2		OriGene Custom Protein Services for TM7SF2
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TM7SF2
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TM7SF2
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TM7SF2
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TM7SF2
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TM7SF2
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TM7SF2

	GenScript Custom Purified and Recombinant Proteins Services for TM7SF2		GenScript cDNA clones with any tag delivered in your preferred vector for TM7SF2
	GenScript Custom Assay Services for TM7SF2		GenScript Custom Superior Antibodies Services for TM7SF2
	GenScript Custom overexpressing Cell Line Services for TM7SF2		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in TM7SF2 promoter
	Search Chromatin IP Primers for TM7SF2
	RT² qPCR Primer Assay in human, mouse, rat TM7SF2
	Search GNC Networks for TM7SF2
	SABiosciences PCR Arrays including human, mouse, rat TM7SF2

Search Tocris compounds for TM7SF2

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	TM7SF2 antibodies
	TM7SF2 lysates

	Search for Antibodies for TM7SF2 at Abcam
	See all of Abcam's Antibodies, Kits and Proteins for TM7SF2
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

TM7SF2 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for TM7SF2

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for TM7SF2

	SwitchGear 3'UTR luciferase reporter plasmids for TM7SF2
	SwitchGear Promoter luciferase reporter plasmids for TM7SF2

Search ThermoFisher Antibodies for TM7SF2

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TM7SF2

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

View Random Gene

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

Hot genes Disease genes TM7SF2 gene at Home site.

hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

TM7SF2 Gene

transmembrane 7 superfamily member 2

Aliases
for TM7SF2 gene

Summaries
for TM7SF2 gene

Genomic Views
for TM7SF2 gene

Proteins
for TM7SF2 gene

Protein Domains /
Families
for TM7SF2 gene

Function
for TM7SF2 gene

Pathways & Interactions
for TM7SF2 gene

Drugs & Compounds
for TM7SF2 gene

Transcripts
for TM7SF2 gene

Expression
for TM7SF2 gene

Orthologs
for TM7SF2 gene

Paralogs
for TM7SF2 gene

Genomic Variants
for TM7SF2 gene

Disorders / Diseases
for TM7SF2 gene

Publications
for TM7SF2 gene

External Searches for TM7SF2 gene

Genome Databases showing TM7SF2 gene

Other Databases showing TM7SF2 gene

Specialized Databases showing TM7SF2 gene

Intellectual Property
for TM7SF2 gene

Products
for TM7SF2 gene

View Random Gene

Advanced Search

Export list of displayed genes

TM7SF2 Gene

transmembrane 7 superfamily member 2

Aliasesfor TM7SF2 gene

Summariesfor TM7SF2 gene

Genomic Viewsfor TM7SF2 gene

Proteinsfor TM7SF2 gene

Protein Domains /Familiesfor TM7SF2 gene

Functionfor TM7SF2 gene

Pathways & Interactionsfor TM7SF2 gene

Drugs & Compoundsfor TM7SF2 gene

Transcriptsfor TM7SF2 gene

Expression for TM7SF2 gene

Orthologsfor TM7SF2 gene

Paralogsfor TM7SF2 gene

Genomic Variantsfor TM7SF2 gene

Disorders / Diseasesfor TM7SF2 gene

Publicationsfor TM7SF2 gene

External Searches for TM7SF2 gene

Genome Databases showing TM7SF2 gene

Other Databases showing TM7SF2 gene

Specialized Databases showing TM7SF2 gene

Intellectual Propertyfor TM7SF2 gene

Productsfor TM7SF2 gene

View Random Gene

Aliases
for TM7SF2 gene

Summaries
for TM7SF2 gene

Genomic Views
for TM7SF2 gene

Proteins
for TM7SF2 gene

Protein Domains /
Families
for TM7SF2 gene

Function
for TM7SF2 gene

Pathways & Interactions
for TM7SF2 gene

Drugs & Compounds
for TM7SF2 gene

Transcripts
for TM7SF2 gene

Expression
for TM7SF2 gene

Orthologs
for TM7SF2 gene

Paralogs
for TM7SF2 gene

Genomic Variants
for TM7SF2 gene

Disorders / Diseases
for TM7SF2 gene

Publications
for TM7SF2 gene

Intellectual Property
for TM7SF2 gene

Products
for TM7SF2 gene