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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C7orf57 Gene

protein-coding GIFtS: 38
GCID: GC07P048041

chromosome 7 open reading frame 57

Explore 2 diseases affiliated with
C7orf57 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
Chromosome 7 Open Reading Frame 57¹ ²
Uncharacterized Protein C7orf57²

External Ids:	HGNC: 22247¹	Entrez Gene: 136288²	Ensembl: ENSG00000164746⁷	UniProtKB: Q8NEG2³

Export aliases for C7orf57 gene to outside databases

Previous GC identifer: GC07P047960

(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_000007.13 NC_018918.1 NT_007819.17 NT_079592.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C7orf57 gene promoter:
USF1 LHX3b/Lhx3b AML1a IRF-1 Evi-1 AREB6 S8 USF-1 LHX3a/Lhx3a
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for C7orf57

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C7orf57

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

Entrez Gene cytogenetic band: 7p12.3 Ensembl cytogenetic band: 7p12.3 HGNC cytogenetic band: 7p12.3

C7orf57 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C7orf57 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P048041: view genomic region (about GC identifiers)

Start:	48,075,108 bp from pter	End:	48,100,901 bp from pter
Size:	25,794 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 48,115,073-48,140,794

(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,
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About This Section

UniProtKB/Swiss-Prot: CG057_HUMAN, Q8NEG2 (See protein sequence)

Recommended Name: Uncharacterized protein C7orf57

Size: 295 amino acids; 32846 Da

Explore the universe of human proteins at neXtProt for C7orf57: NX_Q8NEG2

Post-translational modifications:

Phosphorylated upon DNA damage, probably by ATM or ATR¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8NEG2

C7orf57 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001093629.1 NP_001254794.1 NP_001254795.1

ENSEMBL proteins:

ENSP00000394648 ENSP00000391652 ENSP00000410944 ENSP00000335500 ENSP00000442474

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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: Q8NEG2

(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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(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 C7orf57

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/6 Interacting proteins for C7orf57 (ENSP00000335500⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CPSF3L	ENSP00000413493⁴	STRING: ENSP00000413493
GPX7	ENSP00000354677⁴	STRING: ENSP00000354677
MOB3C	ENSP00000271139⁴	STRING: ENSP00000271139
SRSF11	ENSP00000359988⁴	STRING: ENSP00000359988
--	ENSP00000416511⁴	STRING: ENSP00000416511

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 C7orf57
Search CenterWatch for drugs/clinical trials and news about C7orf57 / CG057

(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,
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About This Section

REFSEQ mRNAs for C7orf57 gene (3 alternative transcripts):

NM_001100159.2 NM_001267865.1 NM_001267866.1

Unigene Cluster for C7orf57:

Chromosome 7 open reading frame 57

Hs.258357 [show with all ESTs]

Unigene Representative Sequence: BC031107

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

ENST00000420324 ENST00000435376(uc003toi.4) ENST00000430738 ENST00000348904(uc003toh.4)

ENST00000461741 ENST00000539619

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Additional cDNA sequence:

BC031107.1 BC045737.1

2 DOTS entries:

DT.95217931 DT.95085793

8 AceView cDNA sequences:

AW571677 BC031107 BI560654 BI821988 BC045737 BF355112 BG722839 BI560281

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for C7orf57 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5
SP1:
SP2:			-

ECgene alternative splicing isoforms for C7orf57

(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

C7orf57 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CATTTGCTTA

About this image

C7orf57 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

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C7orf57 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C7orf57

SOURCE GeneReport for Unigene cluster: Hs.258357

SABiosciences Custom PCR Arrays for C7orf57

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In Situ
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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 C7orf57 gene from 4/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Gm11992^{1 , 5}	predicted gene 11992^{1, 5}	78.58(n)¹ 74.91(a)¹		11 (5.79 cM)⁵ 626870¹ NM_001037928.3¹ NP_001033017.1¹ 9048594⁵
chicken (Gallus gallus)	Aves	C2H7orf57¹	chromosome 2 open reading frame, human C7orf57	59.05(n) 53.88(a)		420941 XM_419025.3 XP_419025.2
lizard (Anolis carolinensis)	Reptilia	C7orf57⁶	--	53(a)	1 ↔ 1	6(54040688-54045596)
zebrafish (Danio rerio)	Actinopterygii	wu:fq41a10⁶	wu:fq41a10	27(a)	1 ↔ 1	6(12211110-12225815)

ENSEMBL Gene Tree for C7orf57 (if available)
TreeFam Gene Tree for C7orf57 (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
				--	--	--		--	--
rs181458610^1,2		--	48073404(+)	`TCCCAC/GCACTT`	3	--	us2k¹		0	--	--	--	--
rs186479839^1,2		--	48073476(+)	`CAAAAC/TCCCAT`	3	--	us2k¹		0	--	--	--	--
rs10245073^1,2	C,F,A,	--	48073511(+)	`CCAGGT/CGTGGT`	3	--	us2k¹		5		NA	10
rs191859792^1,2		--	48073545(+)	`ACACCA/GGAGGC`	3	--	us2k¹		0	--	--	--	--
rs117541546^1,2		--	48073688(+)	`CCATAC/TAATCC`	3	--	us2k¹		1		NA	120
rs76525031^1,2	C,F,	--	48073694(+)	`AATCCC/TGTAGC`	3	--	us2k¹		1		NA	120
rs112368763^1,2		--	48073760(+)	`TAAGAG/ACGTGT`	3	--	us2k¹		1		CSA	2
rs147559687^1,2		--	48073763(+)	`GAGCGC/TGTATA`	3	--	us2k¹		0	--	--	--	--
rs181005142^1,2		--	48073792(+)	`TGACAC/TTGCAG`	3	--	us2k¹		0	--	--	--	--
rs11982579^1,2	C,F,H,	--	48073856(+)	`ATGATA/GTTATA`	3	--	us2k¹ tfbs³		5		NS EA WA	536

HapMap Linkage Disequilibrium report for C7orf57 (48075108 - 48100901 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C7orf57: --

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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

C7orf57 for disorders About GeneDecksing

2 diseases for C7orf57: About MalaCards

amyotrophic lateral sclerosis lateral sclerosis

Human Genome Epidemiology (HuGE) Navigator: C7orf57 (2 documents)

Export disorders for C7orf57 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 C7orf57 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C7orf57)

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

Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. (PubMed id 19193627)¹ ChiA^ A....Traynor B.J. (2009)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
The DNA sequence of human chromosome 7. (PubMed id 12853948)² Hillier L.W.... Wilson R.K. (2003)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 136288	HGNC: 22247	AceView: LOC136288	Ensembl:ENSG00000164746	euGenes: HUgn136288
ECgene: C7orf57	H-InvDB: C7orf57

(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 C7orf57	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C7orf57 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C7orf57 gene:
Search GeneIP for patents involving C7orf57

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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About This Section


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C7orf57 Proteins, Antibodies, CLIAs, and ELISAs

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7orf57

	Browse SwitchGear 3'UTR luciferase reporter plasmids for C7orf57
	Browse SwitchGear Promoter luciferase reporter plasmids for C7orf57

Search ThermoFisher Antibodies for C7orf57

Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C7orf57

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
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C7orf57 Gene

chromosome 7 open reading frame 57

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C7orf57 Gene

chromosome 7 open reading frame 57

Aliasesfor C7orf57 gene

Summariesfor C7orf57 gene

Genomic Viewsfor C7orf57 gene

Proteinsfor C7orf57 gene

Protein Domains /Familiesfor C7orf57 gene

Functionfor C7orf57 gene

Pathways & Interactionsfor C7orf57 gene

Drugs & Compoundsfor C7orf57 gene

Transcriptsfor C7orf57 gene

Expression for C7orf57 gene

Orthologsfor C7orf57 gene

Paralogsfor C7orf57 gene

Genomic Variantsfor C7orf57 gene

Disorders / Diseasesfor C7orf57 gene

Publicationsfor C7orf57 gene

External Searches for C7orf57 gene

Genome Databases showing C7orf57 gene

Other Databases showing C7orf57 gene

Specialized Databases showing C7orf57 gene

Intellectual Propertyfor C7orf57 gene

Productsfor C7orf57 gene

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Aliases
for C7orf57 gene

Summaries
for C7orf57 gene

Genomic Views
for C7orf57 gene

Proteins
for C7orf57 gene

Protein Domains /
Families
for C7orf57 gene

Function
for C7orf57 gene

Pathways & Interactions
for C7orf57 gene

Drugs & Compounds
for C7orf57 gene

Transcripts
for C7orf57 gene

Expression
for C7orf57 gene

Orthologs
for C7orf57 gene

Paralogs
for C7orf57 gene

Genomic Variants
for C7orf57 gene

Disorders / Diseases
for C7orf57 gene

Publications
for C7orf57 gene

Intellectual Property
for C7orf57 gene

Products
for C7orf57 gene