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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C7orf43 Gene

protein-coding GIFtS: 45
GCID: GC07M099752 (predicted)

chromosome 7 open reading frame 43

Search for C7orf43
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
Chromosome 7 Open Reading Frame 43¹ ²
FLJ10925¹
Uncharacterized Protein C7orf43²

External Ids:	HGNC: 25604¹	Entrez Gene: 55262²	Ensembl: ENSG00000146826⁷	UniProtKB: Q8WVR3³

Export aliases for C7orf43 gene to outside databases

Previous GC identifers: GC07M099589 GC07M094387

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

Gene Wiki entry for C7orf43

(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_000007.13 NC_018918.1 NT_007933.15 NT_079595.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C7orf43 gene promoter:
Max1 E2F-4 E2F-3a E2F-5 Sp1 E2F-2 AREB6 E2F E2F-1 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): C7orf43 promoter sequence

Search SABiosciences Chromatin IP Primers for C7orf43

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C7orf43

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

Entrez Gene cytogenetic band: 7q22.1 Ensembl cytogenetic band: 7q22.1 HGNC cytogenetic band: 7q22.1

C7orf43 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C7orf43 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M099752: view genomic region (about GC identifiers)

Start:	99,752,043 bp from pter	End:	99,756,338 bp from pter
Size:	4,296 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 99,112,129-99,116,387

(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: CG043_HUMAN, Q8WVR3 (See protein sequence)

Recommended Name: Uncharacterized protein C7orf43

Size: 580 amino acids; 62597 Da

Sequence caution: Sequence=CAB66490.1; Type=Frameshift; Positions=539;

Secondary accessions: A4D2A9 D6W5U4 Q9BQJ1 Q9BUB6 Q9NV47

Alternative splicing: 3 isoforms: Q8WVR3-1 Q8WVR3-2 Q8WVR3-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C7orf43: NX_Q8WVR3

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8WVR3

C7orf43 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_060745.3

ENSEMBL proteins:

ENSP00000377600 ENSP00000396432 ENSP00000399397 ENSP00000324741 ENSP00000400075

ENSP00000389672 ENSP00000406326

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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: Q8WVR3

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

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7orf43

1 GenomeRNAi human phenotype for C7orf43:

Increased gamma-H2AX phosphory

(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 C7orf43

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

3 Interacting proteins for C7orf43 (Q8WVR3^{2, 3} ENSP00000324741⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TMEM50A	O95807²^,³, ENSP00000363478⁴	MINT-65313 I2D: score=4 STRING: ENSP00000363478
C7orf43	Q8WVR3²	MINT-65314
--	Q7RU07³	I2D: score=1

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 C7orf43
Search CenterWatch for drugs/clinical trials and news about C7orf43 / CG043

(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 C7orf43 gene:

NM_018275.3

Unigene Cluster for C7orf43:

Chromosome 7 open reading frame 43

Hs.533139 [show with all ESTs]

Unigene Representative Sequence: NM_018275

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

ENST00000394035 ENST00000457641(uc011kjj.2) ENST00000419037 ENST00000316937(uc003utr.3)

ENST00000448720(uc010lgo.3 uc010lgp.3) ENST00000456769(uc003uts.3)

ENST00000470260 ENST00000419841 ENST00000498638 ENST00000472061

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		hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-3194-5p hsa-miR-429 hsa-miR-106a hsa-miR-30d hsa-miR-372

		SwitchGear 3'UTR luciferase reporter plasmid: C7orf43 3' UTR sequence

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Additional cDNA sequence:

AK001787.1 AK054872.1 AK302342.1 AK310170.1 AL136555.1 BC002749.2 BC015722.2 BC094727.1

5 DOTS entries:

DT.95169116 DT.100749765 DT.99947511 DT.100683267 DT.121078365

24/70 AceView cDNA sequences (see all 70):

AK054872 BC002749 BI964086 CK903748 AI540672 BC015722 NM_018275 BI964253

AA610597 AL045350 AI190043 BV202540 BI963806 CK903747 BM563927 BX283542

BI913074 AL136555 BQ005973 AU133700 AI022758 BI831178 BQ067958 AL043294

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for C7orf43 (see all 8) About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5a	·	5b	^	6a	·	6b	·	6c	^	7a	·	7b	^	8a	·	8b	^	9	^	10a	·	10b	·	10c	^	11a	·	11b	·	11c	^	12a	·	12b	^	13
SP1:			-		-																-														-		-
SP2:					-																-														-		-
SP3:																					-														-								-
SP4:																					-
SP5:																					-

ECgene alternative splicing isoforms for C7orf43

(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

C7orf43 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTGGGACTA

About this image

C7orf43 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)

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Eye

Retina

Eye

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C7orf43 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C7orf43

SOURCE GeneReport for Unigene cluster: Hs.533139

SABiosciences Custom PCR Arrays for C7orf43

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for C7orf43 gene from 3/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	BC037034^{1 , 5}	cDNA sequence BC037034^{1, 5}	90.98(n)¹ 96.38(a)¹	5 (77.00 cM)⁵ 231807¹ NM_153161.3¹ NP_694801.2¹ 138259658⁵
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.19426²	Transcribed sequence with weak similarity to protein more	76.72(n)	BX778650.1
zebrafish (Danio rerio)	Actinopterygii	LOC100003958¹	uncharacterized protein C7orf43 homolog	64(n) 67.5(a)	100003958 XM_001339293.3 XP_001339329.2

ENSEMBL Gene Tree for C7orf43 (if available)
TreeFam Gene Tree for C7orf43 (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 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs111773951^1,2	C,	--	99751594(+)	`CCTGCC/TGGAGG`	2	--	int¹ ut3¹		0	--	--	--	--
rs201650599^1,2		--	99751608(+)	`AGGGTC/TGGAGA`	2	--	int¹ ut3¹		0	--	--	--	--
rs77496317^1,2	C,F,	--	99751610(+)	`GGTCGG/CAGAAG`	2	--	ut3¹ int¹		1		WA	118
rs185978679^1,2		--	99751659(+)	`CCTGTC/TGGTCT`	2	--	int¹ ut3¹		0	--	--	--	--
rs117976447^1,2	F,	--	99751660(+)	`CTGTCG/AGTCTT`	2	--	int¹ ut3¹		1		EA	120
rs79362363^1,2	C,F,	--	99751709(+)	`TCCCAC/TCCCTA`	2	--	ut3¹ int¹		4		WA CSA	124
rs191321919^1,2		--	99751776(+)	`GAGACC/TTCCCT`	2	--	ut3¹ int¹		0	--	--	--	--
rs146321633^1,2		--	99751789(+)	`GTGCTC/TCCTCA`	2	--	int¹ ut3¹		0	--	--	--	--
rs139716466^1,2		--	99751833(+)	`CCCAGA/GGACAT`	2	--	ut3¹ int¹		0	--	--	--	--
rs183075155^1,2		--	99751879(+)	`TGTCTG/TCCACC`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C7orf43 (99752043 - 99756338 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for C7orf43
1 CNV: 2104
Human Gene Mutation Database (HGMD): C7orf43

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

C7orf43 for disorders About MalaCards

C7orf43 for disorders About GeneDecksing

Export disorders for C7orf43 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 C7orf43 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with C7orf43)

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)
Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)^{1, 2} Scherer S.W.... Tsui L.-C. (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)
Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)^{1, 2} Wiemann S.... Poustka A. (2001)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (2008)
The LIFEdb database in 2006. (PubMed id 16381901)¹ Mehrle A....Wiemann S. (2006)
A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)¹ Stelzl U.... Wanker E.E. (2005)
From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)¹ Wiemann S....Poustka A. (2004)
Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. (PubMed id 11256614)¹ Simpson J.C.... Wiemann S. (2000)

(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: 55262	HGNC: 25604	AceView: FLJ10925	Ensembl:ENSG00000146826	euGenes: HUgn55262
ECgene: C7orf43	H-InvDB: C7orf43

(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 C7orf43	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C7orf43 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C7orf43 gene:
Search GeneIP for patents involving C7orf43

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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	GenScript Custom Purified and Recombinant Proteins Services for C7orf43		GenScript cDNA clones with any tag delivered in your preferred vector for C7orf43
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7orf43

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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C7orf43

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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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

Hot genes Disease genes C7orf43 gene at Home site.

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C7orf43 Gene

chromosome 7 open reading frame 43

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C7orf43 Gene

chromosome 7 open reading frame 43

Aliasesfor C7orf43 gene

Summariesfor C7orf43 gene

Genomic Viewsfor C7orf43 gene

Proteinsfor C7orf43 gene

Protein Domains /Familiesfor C7orf43 gene

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Genome Databases showing C7orf43 gene

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Specialized Databases showing C7orf43 gene

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for C7orf43 gene

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for C7orf43 gene

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