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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C17orf80 Gene

protein-coding GIFtS: 43
GCID: GC17P071228

Chromosome 17 Open Reading Frame 80

Alzheimer's & Parkinson's Diseases Congress

4 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Chromosome 17 Open Reading Frame 80¹ ²		HLC-8² ³
Migration-Inducing Protein 3¹ ²		MIG3²
Sperm-Expressed Protein 1¹ ²		SPEP1²
Cell Migration-Inducing Gene 3 Protein² ³		Lung Cancer-Related Protein 8²
Human Lung Cancer Oncogene 8 Protein² ³		Uncharacterized Protein C17orf80²

External Ids:	HGNC: 29601¹	Entrez Gene: 55028²	Ensembl: ENSG00000141219⁷	UniProtKB: Q9BSJ5³

Export aliases for C17orf80 gene to outside databases

Previous GC identifers: GC17P068741 GC17P066637

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

GeneCards Summary for C17orf80 Gene:

C17orf80 (chromosome 17 open reading frame 80) is a protein-coding gene. Diseases associated with C17orf80 include postpoliomyelitis syndrome, and lung cancer.

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NT_010783.15 NC_018928.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the C17orf80 gene promoter:
AML1a MEF-2 STAT1beta MyoD Nkx2-5 C/EBPalpha GATA-2 MEF-2A aMEF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: C17orf80 promoter sequence

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C17orf80

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

Entrez Gene cytogenetic band: 17q25.1 Ensembl cytogenetic band: 17q25.1 HGNC cytogenetic band: 17q25.1

C17orf80 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf80 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P071228: view genomic region (about GC identifiers)

Start:	71,228,372 bp from pter	End:	71,245,098 bp from pter
Size:	16,727 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CQ080_HUMAN, Q9BSJ5 (See protein sequence)

Recommended Name: Uncharacterized protein C17orf80

Size: 609 amino acids; 67315 Da

Subcellular location: Membrane; Single-pass membrane protein (Potential)

Sequence caution: Sequence=AAP72185.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=BAA91344.1; Type=Frameshift; Positions=121; Sequence=BAB15680.1; Type=Erroneous initiation;

Note=Translation N-terminally extended;

Secondary accessions: A8K9X3 Q5JB45 Q6YAU3 Q9H0L9 Q9H5E6 Q9NWN5

Alternative splicing: 3 isoforms: Q9BSJ5-1 Q9BSJ5-2 Q9BSJ5-3

Explore the universe of human proteins at neXtProt for C17orf80: NX_Q9BSJ5

Explore proteomics data for C17orf80 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q9BSJ5

C17orf80 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (3 alternative transcripts):

NP_001094091.1 NP_001094092.1 NP_060411.2

ENSEMBL proteins:

ENSP00000255557 ENSP00000464132 ENSP00000462818 ENSP00000268942 ENSP00000396970

ENSP00000463019 ENSP00000440551 ENSP00000463718 ENSP00000351937

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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:0016021	integral to membrane	IEA	--

C17orf80 for ontologies About GeneDecksing

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

ProtoNet protein and cluster: Q9BSJ5

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

Phenotypes:
1 GenomeRNAi human phenotype for C17orf80:

Increased cell number in G2M,

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for C17orf80

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for C17orf80

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 C17orf80 (CQ080)

Search CenterWatch for drugs/clinical trials and news about C17orf80 / CQ080

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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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RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for C17orf80 gene (3 alternative transcripts):

NM_001100621.1 NM_001100622.1 NM_017941.4

Unigene Cluster for C17orf80:

Chromosome 17 open reading frame 80

Hs.12929 [show with all ESTs]

Unigene Representative Sequence: NM_017941

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

ENST00000255557(uc010wqu.1) ENST00000577615 ENST00000585109 ENST00000268942

ENST00000426147(uc002jjk.1) ENST00000582391 ENST00000535032 ENST00000582793

ENST00000359042(uc010dfj.3 uc002jjm.4 uc002jjl.4)

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Additional mRNA sequence:

AK000728.1 AK027166.1 AK292838.1 AK301905.1 AL136740.1 AY163812.1 AY239293.1 BC005005.2

11 DOTS entries:

DT.100751259 DT.95269182 DT.100754745 DT.95287897 DT.102825595 DT.120979055 DT.120979096 DT.423629

DT.443604 DT.95226482 DT.95269183

24/143 AceView cDNA sequences (see all 143):

AA308552 F09792 AA908931 NM_017941 AW473463 AI277508 BM475559 BU788930

BU736238 BQ018309 H84336 AA722641 CB134766 AW576319 BE328463 BC005005

AA295241 BU194891 CR612666 AI910475 AA400677 BX348208 BP379158 AW964269

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

C17orf80 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CCTGAATACC

About this image

See C17orf80 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C17orf80

SOURCE GeneReport for Unigene cluster: Hs.12929

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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 C17orf80 gene from 1/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	D11Wsu47e^{1 , 5}	DNA segment, Chr 11, Wayne State University 47, expressed^{1, 5}	65.94(n)¹ 50.36(a)¹		11 (79.15 cM)⁵ 276852¹ NM_177777.5¹ NP_808445.2¹ 113684412⁵

ENSEMBL Gene Tree for C17orf80 (if available)
TreeFam Gene Tree for C17orf80 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for C17orf80 gene

C17orf80 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for C17orf80
PGOHUM00000240409

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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
				--	--	--		--	--
VAR_031782⁴		--	--	see VAR_031782	2	H N	mis⁴		0	--	--	--	--
rs115458442^1,2	F	--	71230542(+)	`AAACTA/GTAAGT`	3	--	int¹		1		WA	118
rs182877844^1,2	C	--	71230569(+)	`CTCACA/GCCTGT`	3	--	int¹		0	--	--	--	--
rs71154982^1,2	C	--	71230598(-)	`CGCCT-/TCGGCC`	3	--	int¹		1		NA	2
rs34609096^1,2	C,F	--	71230680(+)	`CAAAAG/ATTAGC`	3	--	int¹		4		NA WA	8
rs34812780^1,2	C	--	71230820(+)	`TCTCA-/AAAAAAA`	3	--	int¹		0	--	--	--	--
rs187730465^1,2		--	71230846(+)	`ATAAGC/TGAAAA`	3	--	int¹		0	--	--	--	--
rs138507561^1,2		--	71230904(+)	`ATTTTA/GTGTAT`	3	--	int¹		0	--	--	--	--
rs148011966^1,2	C	--	71230912(+)	`ATATC-/TGTGTGT GTGTGTGTGTGTGT`	3	--	int¹		0	--	--	--	--
rs71976723^1,2	C	--	71230913(+)	`TATCT-/TG/TGTGTG TGTGTGTGTGTGGTGTG`	6	--	int¹ cds¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C17orf80 (71228372 - 71245098 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for C17orf80: About this table

Variant ID	Type	Subtype	PubMed ID
nsv2138	CNV	Insertion	18451855
nsv833534	CNV	Loss	17160897

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

4 diseases for C17orf80: About MalaCards

postpoliomyelitis syndrome lung cancer poliomyelitis parkinson's disease

1 disease from the University of Copenhagen DISEASES database for C17orf80:

Poliomyelitis

C17orf80 for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

Export disorders for C17orf80 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 C17orf80 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with C17orf80)

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

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)^{1, 2} Wiemann S.... Poustka A. (2001)
The LIFEdb database in 2006. (PubMed id 16381901)¹ Mehrle A....Wiemann S. (2006)
Identification of genes related to Parkinson's disease using expressed sequence tags. (PubMed id 17213182)¹ Kim J.M....Kim N.S. (2006)
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)² Zody M.C.... Nusbaum C. (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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)¹ Wiemann S....Poustka A. (2004)
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)
DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)¹ Hartley J.L....Brasch M.A. (2000)

(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: 55028	HGNC: 29601	AceView: HLC-8	Ensembl:ENSG00000141219	euGenes: HUgn55028
ECgene: C17orf80	H-InvDB: C17orf80

(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 C17orf80	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C17orf80 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C17orf80 gene:
Search GeneIP for patents involving C17orf80

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

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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section


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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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Category			TGFB1 (GIFtS: 73) transforming growth factor, beta 1
GIFtS Group

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

Hot genes Disease genes C17orf80 gene at Home site.

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C17orf80 Gene

Chromosome 17 Open Reading Frame 80

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C17orf80 Gene

Chromosome 17 Open Reading Frame 80

Aliasesfor C17orf80 gene

Summariesfor C17orf80 gene

Genomic Viewsfor C17orf80 gene

Proteinsfor C17orf80 gene

Protein Domains /Familiesfor C17orf80 gene

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