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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C19orf57 Gene

protein-coding GIFtS: 43
GCID: GC19M013993 (predicted)

chromosome 19 open reading frame 57

Search for C19orf57
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 19 Open Reading Frame 57¹ ²
Pre-T/NK Cell-Associated Protein 3B3² ³
MGC11271¹
Pre-T/NK Cell Associated Protein (3B3)²
Uncharacterized Protein C19orf57²

External Ids:	HGNC: 28153¹	Entrez Gene: 79173²	Ensembl: ENSG00000132016⁷	UniProtKB: Q0VDD7³

Export aliases for C19orf57 gene to outside databases

Previous GC identifers: GC19M013855 GC19M013856 GC19M013564

(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_000019.9 NC_018930.1 NT_011295.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C19orf57 gene promoter:
Pax-5 MyoD Olf-1 MIF-1 YY1 AREB6 MZF-1 PPAR-gamma1 PPAR-gamma2
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for C19orf57

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C19orf57

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

Entrez Gene cytogenetic band: 19p13.12 Ensembl cytogenetic band: 19p13.12 HGNC cytogenetic band: 19p13.12

C19orf57 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C19orf57 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M013993: view genomic region (about GC identifiers)

Start:	13,993,161 bp from pter	End:	14,017,265 bp from pter
Size:	24,105 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CS057_HUMAN, Q0VDD7 (See protein sequence)

Recommended Name: Uncharacterized protein C19orf57

Size: 668 amino acids; 69556 Da

Sequence caution: Sequence=AAB02340.1; Type=Erroneous translation; Note=Wrong choice of frame;

Secondary accessions: Q13411 Q8N825 Q96D63 Q9BU49

Alternative splicing: 2 isoforms: Q0VDD7-1 Q0VDD7-2

Explore the universe of human proteins at neXtProt for C19orf57: NX_Q0VDD7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q0VDD7

C19orf57 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_077299.3

ENSEMBL proteins:

ENSP00000467241 ENSP00000465822 ENSP00000254336 ENSP00000466723 ENSP00000468467

ENSP00000464829 ENSP00000466119 ENSP00000404382

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--

C19orf57 for ontologies About GeneDecksing

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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: Q0VDD7

(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
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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:0003674	molecular_function	ND	--
GO:0005515	protein binding	IPI	19060904

C19orf57 for ontologies 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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for C19orf57

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

5/19 Interacting proteins for C19orf57 (Q0VDD7^{1, 3} ENSP00000254336⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AIMP2	Q13155¹^,³, ENSP00000223029⁴	EBI-741210,EBI-745226 I2D: score=6 STRING: ENSP00000223029
COPS4	Q9BT78¹^,³, ENSP00000264389⁴	EBI-741210,EBI-742413 I2D: score=5 STRING: ENSP00000264389
RABL6	Q3YEC7³, ENSP00000311134⁴	I2D: score=4 STRING: ENSP00000311134
VCL	P18206³, ENSP00000211998⁴	I2D: score=4 STRING: ENSP00000211998
CENPQ	Q7L2Z9³, ENSP00000337289⁴	I2D: score=1 STRING: ENSP00000337289

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007275	multicellular organismal development	NAS	8228263

C19orf57 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

Browse Small Molecules at EMD Millipore

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Browse Tocris compounds for C19orf57
Search CenterWatch for drugs/clinical trials and news about C19orf57 / CS057

(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 C19orf57 gene:

NM_024323.3

Unigene Cluster for C19orf57:

Chromosome 19 open reading frame 57

Hs.143288 [show with all ESTs]

Unigene Representative Sequence: NM_024323

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

ENST00000588115 ENST00000586783 ENST00000346736(uc002mxl.1) ENST00000591586

ENST00000586500 ENST00000591439 ENST00000589393 ENST00000585755 ENST00000454313(uc002mxk.1)

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Additional cDNA sequence:

AK097431.1 BC002891.2 BC012945.1 BC119718.2 BC119719.1 L17327.1

6 DOTS entries:

DT.406237 DT.100738395 DT.100795303 DT.435926 DT.75163105 DT.111857

24/35 AceView cDNA sequences (see all 35):

BX423571 AK097431 AI475541 NM_024323 BC002891 CR601980 AL539986 BC012945

BX463735 AA359456 AA084082 L17327 BX111591 BX463734 BE794880 BI761493

BU538061 BE882367 AL533678 BI561302 BU621615 AL568154 AA507049 BG577013

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for C19orf57 About this scheme

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

ECgene alternative splicing isoforms for C19orf57

(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

C19orf57 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACAACACAA

About this image

C19orf57 expression in embryonic tissues and stem cells

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

8 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Ovigerous Cord

XX Germ Cells

Female Gametocytes, Germ Cells

Bone

Brain

Brain

Brain

Lower Urinary Tract

Neural Tube

Ovary

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C19orf57 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C19orf57

SOURCE GeneReport for Unigene cluster: Hs.143288

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In Situ
Assay Products:

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

This gene was present in the common ancestor of human and mouse.

Orthologs for C19orf57 gene from 1/5 species (see all 5) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	4930432K21Rik^{1 , 5}	RIKEN cDNA 4930432K21 gene^{1, 5}	62.16(n)¹ 45.16(a)¹		8 (40.35 cM)⁵ 74666¹ NM_029045.2¹ NP_083321.2¹ 84148025⁵

ENSEMBL Gene Tree for C19orf57 (if available)
TreeFam Gene Tree for C19orf57 (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 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs148775528^1,2		--	13992736(+)	`GTAAAC/TTGGGG`	1	--	ds500¹		0	--	--	--	--
rs142384365^1,2		--	13992887(+)	`CAGCTC/TGTCCT`	1	--	ds500¹		0	--	--	--	--
rs113135521^1,2		--	13992899(+)	`GAGGAT/CGGGCC`	1	--	ds500¹		2		CSA WA	119
rs10409241^1,2	C,F,A,H,	--	13992913(+)	`CCACCT/GGAGCG`	1	--	ds500¹		20		NS NA WA CSA EA	1752
rs150959438^1,2		--	13992973(+)	`CGACCC/TGCGTG`	1	--	ds500¹		0	--	--	--	--
rs77356993^1,2		--	13992976(+)	`CCCGCG/ATGTAT`	1	--	ds500¹		2		CSA WA	120
rs181925524^1,2		--	13992991(+)	`AAGAGC/GCTGCA`	1	--	ds500¹		0	--	--	--	--
rs187375177^1,2		--	13993005(+)	`AGATGG/TGGGCA`	1	--	ds500¹		0	--	--	--	--
rs113373051^1,2		--	13993024(+)	`CCCACC/TCCTGG`	1	--	ds500¹		2		CSA WA	119
rs3214851^1,2	C,	--	13993035(-)	`GGGGGG/-CGAAT`	1	--	ds500¹		1		CSA	2

HapMap Linkage Disequilibrium report for C19orf57 (13993161 - 14017265 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for C19orf57
1 CNV: 5088

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

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for C19orf57 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C19orf57)

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

Identification of human pre-T/NK cell-associated genes. (PubMed id 8228263)^{1, 2, 3} Ranes-Goldberg M.G.... Spits H. (1993)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
Expanding the substantial interactome of NEMO using p rotein microarrays. (PubMed id 20098747)¹ Fenner B.J....Prehn J.H. (2010)
Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)² Mayya V.... Han D.K. (2009)
An empirical framework for binary interactome mapping . (PubMed id 19060904)¹ Venkatesan K....Vidal M. (2009)
Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)¹ Rual J.F....Vidal M. (2005)
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)
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: 79173	HGNC: 28153	AceView: MGC11271	Ensembl:ENSG00000132016	euGenes: HUgn79173
ECgene: C19orf57	H-InvDB: C19orf57

(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 C19orf57	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C19orf57 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C19orf57 gene:
Search GeneIP for patents involving C19orf57

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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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C19orf57

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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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 C19orf57 gene at Home site.

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C19orf57 Gene

chromosome 19 open reading frame 57

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C19orf57 Gene

chromosome 19 open reading frame 57

Aliasesfor C19orf57 gene

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Genomic Viewsfor C19orf57 gene

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