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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C3orf70 Gene

protein-coding GIFtS: 35
GCID: GC03M184795 (predicted)

chromosome 3 open reading frame 70

Search for C3orf70
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 3 Open Reading Frame 70¹ ²
UPF0524 Protein C3orf70²

External Ids:	HGNC: 33731¹	Entrez Gene: 285382²	Ensembl: ENSG00000187068⁷	UniProtKB: A6NLC5³

Export aliases for C3orf70 gene to outside databases

Previous GC identifers: GC03M186278 GC03M182205

(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_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C3orf70 gene promoter:
AhR STAT5B Nkx2-5 GATA-2 Arnt POU2F1 POU2F1a POU2F1b Chx10 POU2F1c
Other transcription factors

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C3orf70

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

Entrez Gene cytogenetic band: 3q27.2 Ensembl cytogenetic band: 3q27.2 HGNC cytogenetic band: 3q27

C3orf70 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C3orf70 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M184795: view genomic region (about GC identifiers)

Start:	184,795,838 bp from pter	End:	184,870,802 bp from pter
Size:	74,965 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,
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About This Section

UniProtKB/Swiss-Prot: CC070_HUMAN, A6NLC5 (See protein sequence)

Recommended Name: UPF0524 protein C3orf70

Size: 250 amino acids; 27769 Da

Secondary accessions: B2RNY2 B9EH83

Explore the universe of human proteins at neXtProt for C3orf70: NX_A6NLC5

C3orf70 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001020437.1

ENSEMBL proteins:

ENSP00000334974

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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: A6NLC5

UniProtKB/Swiss-Prot: CC070_HUMAN, A6NLC5

Similarity: Belongs to the UPF0524 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

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1 GenomeRNAi human phenotype for C3orf70:

Big cells

(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 C3orf70

(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

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Search CenterWatch for drugs/clinical trials and news about C3orf70 / CC070

(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 C3orf70 gene:

NM_001025266.1

Unigene Cluster for C3orf70:

Chromosome 3 open reading frame 70

Hs.380048 [show with all ESTs]

Unigene Representative Sequence: NM_001025266

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000335012(uc003fpd.3)

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Additional cDNA sequence:

BC127694.1 BC127695.1 BC137178.1 BC137179.1 BC150565.1 BC150566.1

2 DOTS entries:

DT.40207995 DT.75100287

4 AceView cDNA sequences:

BF513211 AA974660 AK091454 AX746993

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

C3orf70 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTCAGTTAG

About this image

C3orf70 expression in embryonic tissues and stem cells

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

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Foregut

Foregut Endoderm Cells

Endoderm

Eye

Retina

Eye

Neural Tube

Diencephalic Ventricular Zone

Neural Tube

Mesencephalic Ventricular Zone

Neural Tube

Metencephalon

Neural Tube

Telencephalon

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C3orf70 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C3orf70

SOURCE GeneReport for Unigene cluster: Hs.380048

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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 C3orf70 gene from 3/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	2510009E07Rik^{1 , 5}	RIKEN cDNA 2510009E07 gene^{1, 5}	88.71(n)¹ 94.76(a)¹	16 (12.80 cM)⁵ 72190¹ NM_001001881.2¹ NP_001001881.1¹ 21649045⁵
chicken (Gallus gallus)	Aves	LOC100857307¹	UPF0524 protein C3orf70 homolog	78.08(n) 83.15(a)	100857307 XM_003641745.1 XP_003641793.1
zebrafish (Danio rerio)	Actinopterygii	57086156²	--	71.55(n)	57086156

ENSEMBL Gene Tree for C3orf70 (if available)
TreeFam Gene Tree for C3orf70 (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 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs200545920^1,2		--	184795344(+)	`AGGTT-/GTTCAA`	1	--	ds500¹		0	--	--	--	--
rs16859579^1,2	C,F,H,	--	184795385(+)	`TGAGTA/GTGGAC`	1	--	ds500¹		6		NA EA NS	386
rs76871867^1,2	C,F,	--	184795397(+)	`TGCCGC/TGCTGA`	1	--	ds500¹		1		WA	118
rs146277119^1,2		--	184795398(+)	`GCCGCA/GCTGAG`	1	--	ds500¹		0	--	--	--	--
rs138188076^1,2		--	184795440(+)	`CCCCCC/GCAAGC`	1	--	ds500¹		0	--	--	--	--
rs191437564^1,2		--	184795490(+)	`TTAGAA/GCTGCA`	1	--	ds500¹		0	--	--	--	--
rs181768889^1,2		--	184795542(+)	`GGCTGA/TAACTG`	1	--	ds500¹		0	--	--	--	--
rs201474525^1,2		--	184795568(+)	`CTATT-/TGGTGGTG`	1	--	ds500¹		0	--	--	--	--
rs144730633^1,2		--	184795577(+)	`GGTGG-/TGGGGG`	1	--	ds500¹		0	--	--	--	--
rs140474917^1,2		--	184795584(+)	`GGGGG-/GTGGGTA`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C3orf70 (184795838 - 184870802 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C3orf70: --

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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 C3orf70 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C3orf70)

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

Genome-wide association study of major depressive dis order: new results, meta-analysis, and lessons learned. (PubMed id 21042317)¹ Wray N.R....Sullivan P.F. (2010)
The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)² Muzny D.M....Gibbs R.A. (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)

(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: 285382	HGNC: 33731	AceView: LOC285382	Ensembl:ENSG00000187068	euGenes: HUgn285382
ECgene: C3orf70	H-InvDB: C3orf70

(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 C3orf70	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C3orf70 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C3orf70 gene:
Search GeneIP for patents involving C3orf70

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

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C3orf70 Gene

chromosome 3 open reading frame 70

Aliases
for C3orf70 gene

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C3orf70 Gene

chromosome 3 open reading frame 70

Aliasesfor C3orf70 gene

Summariesfor C3orf70 gene

Genomic Viewsfor C3orf70 gene

Proteinsfor C3orf70 gene

Protein Domains /Familiesfor C3orf70 gene

Functionfor C3orf70 gene

Pathways & Interactionsfor C3orf70 gene

Drugs & Compoundsfor C3orf70 gene

Transcriptsfor C3orf70 gene

Expression for C3orf70 gene

Orthologsfor C3orf70 gene

Paralogsfor C3orf70 gene

Genomic Variantsfor C3orf70 gene

Disorders / Diseasesfor C3orf70 gene

Publicationsfor C3orf70 gene

External Searches for C3orf70 gene

Genome Databases showing C3orf70 gene

Other Databases showing C3orf70 gene

Specialized Databases showing C3orf70 gene

Intellectual Propertyfor C3orf70 gene

Productsfor C3orf70 gene

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Aliases
for C3orf70 gene

Summaries
for C3orf70 gene

Genomic Views
for C3orf70 gene

Proteins
for C3orf70 gene

Protein Domains /
Families
for C3orf70 gene

Function
for C3orf70 gene

Pathways & Interactions
for C3orf70 gene

Drugs & Compounds
for C3orf70 gene

Transcripts
for C3orf70 gene

Expression
for C3orf70 gene

Orthologs
for C3orf70 gene

Paralogs
for C3orf70 gene

Genomic Variants
for C3orf70 gene

Disorders / Diseases
for C3orf70 gene

Publications
for C3orf70 gene

Intellectual Property
for C3orf70 gene

Products
for C3orf70 gene