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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C17orf70 Gene

protein-coding GIFtS: 50
GCID: GC17M079506

chromosome 17 open reading frame 70

Explore 3 diseases affiliated with
C17orf70 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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chromosome 17 Open Reading Frame 70¹ ²		Fanconi Anemia Core Complex 100 KDa Subunit²
FAAP100¹ ²		Fanconi Anemia-Associated Protein Of 100 KDa²
FLJ22175¹		Fanconi Anemia-Associated Protein, 100kDa²
Fanconi Anemia Associated Protein 100 KDa Subunit²

External Ids:	HGNC: 26171¹	Entrez Gene: 80233²	Ensembl: ENSG00000185504⁷	OMIM: 611301⁵	UniProtKB: Q0VG06³

ORGUL members:
	NONCODE:n409178

Export aliases for C17orf70 gene to outside databases

Previous GC identifers: GC17M077118 GC17M074954

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

Entrez Gene summary for C17orf70:

FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability

and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 (PubMed 17396147)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: FP100_HUMAN, Q0VG06

Function: Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination

and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA

cross-linking agents, when repressed

(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_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C17orf70 gene promoter:
PPAR-gamma1 CUTL1 PPAR-gamma2 Tal-1beta E47
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for C17orf70

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C17orf70

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

Entrez Gene cytogenetic band: 17q25.3 Ensembl cytogenetic band: 17q25.3 HGNC cytogenetic band: 17q25.3

C17orf70 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf70 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M079506: view genomic region (about GC identifiers)

Start:	79,506,911 bp from pter	End:	79,520,987 bp from pter
Size:	14,077 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: FP100_HUMAN, Q0VG06 (See protein sequence)

Recommended Name: Fanconi anemia-associated protein of 100 kDa

Size: 881 amino acids; 93433 Da

Subunit: Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9,

FANCM, FAAP24 and FAAP100. Forms a subcomplex with FANCB and FANCL

Subcellular location: Nucleus

Sequence caution: Sequence=AAH21968.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=BAB15251.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD39037.2;

Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: A6NNM1 Q8N3F7 Q9BV13 Q9H6K7 Q9H7E8

Alternative splicing: 3 isoforms: Q0VG06-1 Q0VG06-2 Q0VG06-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C17orf70: NX_Q0VG06

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q0VG06

C17orf70 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_079437.5

ENSEMBL proteins:

ENSP00000395348 ENSP00000333283 ENSP00000399674 ENSP00000459776 ENSP00000438149

ENSP00000444241 ENSP00000443415 ENSP00000440151

Reactome Protein details: Q0VG06
Human Recombinant Protein Products for C17orf70:

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	Uscn Proteins for C17orf70

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0045111	intermediate filament cytoskeleton	IDA	--

C17orf70 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: Q0VG06

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: FP100_HUMAN, Q0VG06

Function: Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination

and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA

cross-linking agents, when repressed

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:0003677	DNA binding	IEA	--

C17orf70 for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for C17orf70

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In Situ Assay
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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

Pathway sources
See GeneCards unified pathways
Show all pathways

2 Reactome Pathways for C17orf70

	DNA Repair
	Fanconi Anemia pathway

C17orf70 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for C17orf70

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/34 Interacting proteins for C17orf70 (Q0VG06^{2, 3} ENSP00000333283⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 34)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FANCB	Q8NB91²^,³, ENSP00000326819⁴	MINT-4789189 MINT-4789279 MINT-4789226 MINT-4789371 MINT-4789347 I2D: score=2 STRING: ENSP00000326819
FANCA	O15360²^,³, ENSP00000373952⁴	MINT-4789089 MINT-4789189 MINT-4789226 MINT-4789325 I2D: score=2 STRING: ENSP00000373952
FANCG	O15287²^,³, ENSP00000367910⁴	MINT-4789189 MINT-4789226 MINT-4789325 I2D: score=1 STRING: ENSP00000367910
FANCL	Q9NW38²^,³, ENSP00000385021⁴	MINT-4789189 MINT-4789279 MINT-4789226 MINT-4789371 MINT-4789325 I2D: score=1 STRING: ENSP00000385021
FANCM	Q8IYD8²^,³, ENSP00000267430⁴	MINT-4789189 MINT-4789279 MINT-4789226 I2D: score=1 STRING: ENSP00000267430

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:0006281	DNA repair	TAS	--

C17orf70 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 C17orf70
Search CenterWatch for drugs/clinical trials and news about C17orf70 / FP100

(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,
RNAi Products from EMD Millipore,
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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 C17orf70 gene:

NM_025161.5

Unigene Cluster for C17orf70:

Chromosome 17 open reading frame 70

Hs.313905 [show with all ESTs]

Unigene Representative Sequence: NR_033338

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

ENST00000443656(uc002kap.3) ENST00000327787(uc010wuq.1) ENST00000425898(uc002kao.1)

ENST00000545865 ENST00000541246 ENST00000544302 ENST00000536161 ENST00000537152(uc002kaq.3)

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Additional cDNA sequence:

AK024644.1 AK025828.1 AK054713.1 AK225370.1 AL834374.1 BC001724.1 BC008883.2 BC021968.2

BC117139.1 BC117141.1 BC128596.1 BC143861.1 DQ989324.1 NR_033338.1

12 DOTS entries:

DT.441219 DT.120915111 DT.95349326 DT.100787681 DT.100808135 DT.100787682 DT.100787685 DT.92430447

DT.95178378 DT.215301 DT.95349328 DT.92430446

24/264 AceView cDNA sequences (see all 264):

AW612411 AI571410 AW169911 CF125979 BQ678927 BC021968 AI696155 BM982374

AI417229 BE676778 BF000394 AW467688 AI741160 CB046622 AI934109 CK821619

AI360192 BF196574 BM700445 BF115684 AI360191 BF115248 AI089973 BM563447

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for C17orf70 (see all 6) About this scheme

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

ECgene alternative splicing isoforms for C17orf70

(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

C17orf70 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGGGAGCTC

About this image

C17orf70 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

Thoracic Rib

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C17orf70 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C17orf70

SOURCE GeneReport for Unigene cluster: Hs.313905

SABiosciences Custom PCR Arrays for C17orf70

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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 C17orf70 gene from 4/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	2310003H01Rik^{1 , 5}	RIKEN cDNA 2310003H01 gene^{1, 5}	78.21(n)¹ 73.58(a)¹		11 (84.08 cM)⁵ 71885¹ NM_027980.2¹ NP_082256.2¹ 120369055⁵
chicken (Gallus gallus)	Aves	C18H17orf70¹	FancA associated protein of 100 kDa	65.39(n) 56.13(a)		100049617 NM_001098610.1 NP_001092080.1
lizard (Anolis carolinensis)	Reptilia	C17orf70⁶	--	53(a)	1 ↔ 1	2(98594109-98624214)
zebrafish (Danio rerio)	Actinopterygii	LOC100001169¹	Fanconi anemia-associated protein of 100 kDa-like	45.25(n) 33.75(a)		100001169 XM_001341191.3 XP_001341227.3

ENSEMBL Gene Tree for C17orf70 (if available)
TreeFam Gene Tree for C17orf70 (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 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs113233787^1,2	C	--	79506601(+)	`GGCCGA/GGTTTG`	2	--	int¹		0	--	--	--	--
rs74320230^1,2		--	79506611(+)	`GGAGTG/ATCATC`	2	--	int¹		1		WA	118
rs60629956^1,2	F	--	79506622(+)	`AGGGCG/AGCCGT`	2	--	int¹		1		WA	118
rs117010203^1,2	F	--	79506626(+)	`CGGCCG/ATGCTC`	2	--	int¹		1		NA	120
rs77887758^1,2	F	--	79506670(+)	`CCTGAC/ATAGGA`	2	--	int¹		1		NA	120
rs7405522^1,2	C,F,A	--	79506761(+)	`CCTTGG/CAGCAG`	2	--	int¹		8		WA CSA NA EA	366
rs149987877^1,2		--	79506800(+)	`GGGACA/GCGTCT`	2	--	int¹		0	--	--	--	--
rs7405532^1,2	C,F,A	--	79506811(+)	`TCCTCG/AGAGGC`	2	--	int¹		7		WA CSA NA EA	365
rs115617790^1,2	F	--	79506848(+)	`AGCGCC/AAGGGC`	2	--	int¹		1		WA	118
rs199534993^1,2		--	79506871(+)	`CCAGT-/GAGAGAG`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C17orf70 (79506911 - 79520987 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for C17orf70
4 CNVs: 73071 5040 35515 5039

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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

C17orf70 for disorders           About GeneDecksing

OMIM gene information: 611301    OMIM disorders: --

3 diseases for C17orf70:    About MalaCards

fanconi's anemia anemia fanconi anemia, complementation group m

1 disease from the University of Copenhagen DISEASES database for C17orf70:

Fanconi's anemia

Export disorders for C17orf70 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 C17orf70 gene, integrated from 9 sources (see all 19):
(articles sorted by number of sources associating them with C17orf70)

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

FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway. (PubMed id 17396147)^{1, 2, 3} Ling C....Wang W. (2007)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
A ubiquitin-binding protein, FAAP20, links RNF8-mediat ed ubiquitination to the Fanconi anemia DNA repair network. (PubMed id 22705371)¹ Yan Z....Wang W. (2012)
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)
A histone-fold complex and FANCM form a conserved DNA -remodeling complex to maintain genome stability. (PubMed id 20347428)¹ Yan Z....Wang W. (2010)
Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)¹ Hutchins J.R....Peters J.M. (2010)
MHF1-MHF2, a histone-fold-containing protein complex, participates in the Fanconi anemia pathway via FANCM. (PubMed id 20347429)¹ Singh T.R....Meetei A.R. (2010)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (2008)
FANCM of the Fanconi anemia core complex is required for both monoubiquitination and DNA repair. (PubMed id 18285517)¹ Xue Y....Wang W. (2008)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 80233	HGNC: 26171	AceView: FLJ22175	Ensembl:ENSG00000185504	euGenes: HUgn80233
ECgene: C17orf70	H-InvDB: C17orf70

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for C17orf70	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C17orf70 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for C17orf70 gene:
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C17orf70 Gene

chromosome 17 open reading frame 70

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C17orf70 Gene

chromosome 17 open reading frame 70

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