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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C8orf34 Gene

protein-coding GIFtS: 40
GCID: GC08P069242

chromosome 8 open reading frame 34

Search for C8orf34
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 8 Open Reading Frame 34¹ ²		VEST-1²
VEST1¹ ²		Uncharacterized Protein C8orf34²
Protein VEST-1² ³		Vestibule 1²
Vest-1¹		Vestibule-1 Protein²

External Ids:	HGNC: 30905¹	Entrez Gene: 116328²	Ensembl: ENSG00000165084⁷	UniProtKB: Q49A92³

Export aliases for C8orf34 gene to outside databases

Previous GC identifers: GC08P069406 GC08P064842

(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_000008.10 NC_018919.1 NT_008183.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C8orf34 gene promoter:
USF1 SREBP-1c MyoD Tal-1beta E47 Arnt SREBP-1b SREBP-1a Zic1 RSRFC4
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for C8orf34

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C8orf34

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

Entrez Gene cytogenetic band: 8q13 Ensembl cytogenetic band: 8q13.2 HGNC cytogenetic band: 8q13

C8orf34 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C8orf34 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08P069242: view genomic region (about GC identifiers)

Start:	69,242,957 bp from pter	End:	69,731,257 bp from pter
Size:	488,301 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: CH034_HUMAN, Q49A92 (See protein sequence)

Recommended Name: Uncharacterized protein C8orf34

Size: 452 amino acids; 50489 Da

Sequence caution: Sequence=AAH41961.1; Type=Frameshift; Positions=429;

Secondary accessions: A8K5X1 Q8N1X0 Q8N9M7 Q8ND19 Q96Q28

Alternative splicing: 5 isoforms: Q49A92-1 Q49A92-2 Q49A92-3 Q49A92-4 Q49A92-5 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C8orf34: NX_Q49A92

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q49A92

C8orf34 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001182568.1 NP_443190.2

ENSEMBL proteins:

ENSP00000427820 ENSP00000429102 ENSP00000345255 ENSP00000337174 ENSP00000429081

ENSP00000319532 ENSP00000438159

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

C8orf34 for domains About GeneDecksing

1 InterPro domain/family:

IPR003117 cAMP_dep_PK_reg_su_I/II_a/b

Graphical View of Domain Structure for InterPro Entry Q49A92

ProtoNet protein and cluster: Q49A92

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008603	cAMP-dependent protein kinase regulator activity	IEA	--

C8orf34 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for C8orf34:

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 C8orf34

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:0007165	signal transduction	IEA	--

C8orf34 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

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for C8orf34
Search CenterWatch for drugs/clinical trials and news about C8orf34 / CH034

(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 C8orf34 gene (2 alternative transcripts):

NM_001195639.1 NM_052958.2

Unigene Cluster for C8orf34:

Chromosome 8 open reading frame 34

Hs.491941 [show with all ESTs]

Unigene Representative Sequence: NM_001195639

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

ENST00000518698(uc010lyz.3) ENST00000349492 ENST00000523686(uc010lyx.2)

ENST00000348340(uc010lyy.2) ENST00000337103(uc003xyb.3) ENST00000521406

ENST00000518515 ENST00000325233 ENST00000539993

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Additional cDNA sequence:

AB056652.1 AK094650.1 AK291436.1 AL834454.1 BC041961.1

8 DOTS entries:

DT.308056 DT.95264002 DT.100731581 DT.75151443 DT.120632780 DT.91691929 DT.92019881 DT.75129924

24/34 AceView cDNA sequences (see all 34):

T16367 AK094191 BM684412 Z38451 BM930891 AL834454 BI753762 NM_052958

F12291 AB056652 Z42198 AI445354 AB077325 F09916 BF478251 AL565344

AK094650 BI597942 BX464780 BE504044 BC041961 AI167925 BI597413 BI669066

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

C8orf34 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTATTTTCT

About this image

C8orf34 expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Maxillary Process

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

See C8orf34 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C8orf34

SOURCE GeneReport for Unigene cluster: Hs.491941

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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 C8orf34 gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	A830018L16Rik^{1 , 5}	RIKEN cDNA A830018L16 gene^{1, 5}	87.7(n)¹ 91.11(a)¹		1 (2.57 cM)⁵ 320492¹ NM_001160369.2¹ NP_001153841.1¹ 11414105⁵
chicken (Gallus gallus)	Aves	C2H8orf34¹	chromosome 2 open reading frame, human C8orf34	75.19(n) 74.64(a)		768864 XM_001232048.2 XP_001232049.2
lizard (Anolis carolinensis)	Reptilia	C8orf34⁶	--	84(a)	1 ↔ 1	4(31605269-31636193)
zebrafish (Danio rerio)	Actinopterygii	zgc:162928¹	zgc:162928	70.58(n) 71.2(a)		557144 NM_001089499.1 NP_001082968.1

ENSEMBL Gene Tree for C8orf34 (if available)
TreeFam Gene Tree for C8orf34 (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 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs199819200^1,2	C	other	69400281(+)	`AACTCA/GATAAG`	4	N D	mis¹		0	--	--	--	--
rs151260338^1,2		--	69241098(+)	`CTTTGA/GAAATA`	3	--	us2k¹ int¹		0	--	--	--	--
rs16934452^1,2	C,F,	--	69241148(+)	`GTTTTA/CACATA`	3	--	int¹ us2k¹ tfbs³		4		NA WA	260
rs140593024^1,2		--	69241162(+)	`AAATGA/GGTATG`	3	--	us2k¹ int¹		0	--	--	--	--
rs182875884^1,2		--	69241268(+)	`AGTGGC/TACACT`	3	--	us2k¹ int¹		0	--	--	--	--
rs814438^1,2	C,F,A,H,	--	69241269(-)	`GAGTGC/TGCCAC`	3	--	us2k¹ int¹		18		NS EA NA WA CSA	797
rs6998686^1,2	C,H,	--	69241298(+)	`aaactG/Tcagct`	3	--	us2k¹ int¹		4		NS EA WA	418
rs186981626^1,2		--	69241412(+)	`TTTATC/GTTGCC`	3	--	int¹ us2k¹		0	--	--	--	--
rs112438387^1,2	C,	--	69241472(+)	`CAGACG/ATGAGC`	3	--	us2k¹ int¹		1		NA	2
rs145729476^1,2		--	69241515(+)	`ATACAC/TATTTT`	3	--	us2k¹ int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C8orf34 (69242957 - 69492957 bp, first 250kb of C8orf34)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for C8orf34
3 CNVs: 9603 100381 52606
3 Indels: 47577 13076 70387

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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 C8orf34 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C8orf34)

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

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
A genome-wide association study for irinotecan-related severe toxicities in patients with advanced non-small-cell lung cancer. (PubMed id 22664479)¹ Han J.Y....Lee J.S. (2012)
Wnt signaling and Dupuytren's disease. (PubMed id 21732829)¹ Dolmans G.H.... . (2011)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)² Sjoeblom T.... Velculescu V.E. (2006)
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)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )² Aoki H.... Hino O. (2000)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)

(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: 116328	HGNC: 30905	AceView: VEST1	Ensembl:ENSG00000165084	euGenes: HUgn116328
ECgene: C8orf34	H-InvDB: C8orf34

(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 C8orf34	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C8orf34 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C8orf34 gene:
Search GeneIP for patents involving C8orf34

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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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

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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes C8orf34 gene at Home site.

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C8orf34 Gene

chromosome 8 open reading frame 34

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C8orf34 Gene

chromosome 8 open reading frame 34

Aliasesfor C8orf34 gene

Summariesfor C8orf34 gene

Genomic Viewsfor C8orf34 gene

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