C17orf80 Gene

Aliases
for C17orf80 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC17P068741 GC17P066637

Summaries
for C17orf80 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for C17orf80 gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000017.10  NT_010783.16  NC_018928.2  

SwitchGear Promoter luciferase reporter plasmid: C17orf80 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C17orf80

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


GeneLoc information about chromosome 17         GeneLoc Exon Structure

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

Proteins
for C17orf80 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for C17orf80: NX_Q9BSJ5

Explore proteomics data for C17orf80 at MOPED

Post-translational modifications: 

C17orf80 Human Recombinant Protein Products:

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	antibodies-online peptides for C17orf80

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Domains /
Families
for C17orf80 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q9BSJ5

Function
for C17orf80 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 1 molecular function term:    About this table

genOway: Develop your customized and physiologically relevant rodent model for C17orf80

miRNA Products:		miRTarBase miRNAs that target C17orf80: hsa-mir-125b-5p (MIRT046098), hsa-mir-16-5p (MIRT004375), hsa-mir-125a-5p (MIRT045779), hsa-mir-155-5p (MIRT020493), hsa-mir-15a-5p (MIRT003881)
		Block miRNA regulation of human, mouse, rat C17orf80 using miScript Target Protectors
		3 qRT-PCR Assays for microRNAs that regulate C17orf80:
		hsa-miR-19b hsa-miR-590-3p hsa-miR-19a
		SwitchGear 3'UTR luciferase reporter plasmid: C17orf80 3' UTR sequence

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Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for C17orf80

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C17orf80

Localization
for C17orf80 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
nucleus	3
cytosol	2

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Gene Ontology (GO): 3 cellular component terms:    About this table

Pathways & Interactions
for C17orf80 gene

(SuperPaths according to PathCards, Pathways according to 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 GenesLikeMe, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Gene Ontology (GO): 1 biological process term:    About this table

Drugs & Compounds
for C17orf80 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for C17orf80 gene

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for C17orf80 gene

(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 GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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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

Primer Products:		OriGene qPCR primer pairs and template standards for C17orf80 OriGene qSTAR qPCR primer pairs in human, mouse for C17orf80
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C17orf80
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		QuantiFast Probe-based Assays in human, mouse, rat C17orf80

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C17orf80

Orthologs
for C17orf80 gene

(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)
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Paralogs
for C17orf80 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for C17orf80 gene

Find genes that share paralogs with C17orf80           About GenesLikeMe


1 Pseudogenes.org Pseudogene for C17orf80
PGOHUM00000240409

Genomic Variants
for C17orf80 gene

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for C17orf80 (see all 467)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1154584421,2	F	--	71230542(+)	AAACTA/GTAAGT	3	--	int1		1		WA	118
rs1828778441,2	C	--	71230569(+)	CTCACA/GCCTGT	3	--	int1		0	--	--	--	--
rs711549821,2	C	--	71230598(-)	CGCCT-/TCGGCC	3	--	int1		1		NA	2
rs346090961,2	C,F	--	71230680(+)	CAAAAG/ATTAGC	3	--	int1		4		NA WA	8
rs348127801,2	C	--	71230820(+)	TCTCA-/AAAAAAA	3	--	int1		0	--	--	--	--
rs1877304651,2		--	71230846(+)	ATAAGC/TGAAAA	3	--	int1		0	--	--	--	--
rs1385075611,2		--	71230904(+)	ATTTTA/GTGTAT	3	--	int1		0	--	--	--	--
rs1480119661,2	C	--	71230912(+)	ATATC-/TGTGTGT GTGTGTGTGTGTGT	3	--	int1		0	--	--	--	--
rs719767231,2	C	--	71230913(+)	TATCT-/TG/TGTGTG TGTGTGTGTGTGGTGTG	6	--	int1 cds1		0	--	--	--	--
rs1168288901,2	F	--	71230930(+)	TGTGTG/ATATAT	3	--	int1		1		WA	118

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

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing C17orf80

DNA2.0 Custom Variant and Variant Library Synthesis for C17orf80

Disorders / Diseases
for C17orf80 gene

(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, Sets of similar genes according to GenesLikeMe)
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Publications
for C17orf80 gene

(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)
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1. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
2. 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. (Genome Res. 2001)
3. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)¹ Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
4. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PubMed id 19056867)¹ Gonzales P.A....Knepper M.A. (J. Am. Soc. Nephrol. 2009)
5. The LIFEdb database in 2006. (PubMed id 16381901)¹ Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
6. Identification of genes related to Parkinson's disease using expressed sequence tags. (PubMed id 17213182)¹ Kim J.M.... Kim N.S. (DNA Res. 2006)
7. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)² Zody M.C.... Nusbaum C. (Nature 2006)
8. 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. (Genome Res. 2004)
9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (Nat. Genet. 2004)
10. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)¹ Wiemann S....Poustka A. (Genome Res. 2004)

External Searches for C17orf80 gene

Genome Databases showing C17orf80 gene

Other Databases showing C17orf80 gene

Specialized Databases showing C17orf80 gene

Products
for C17orf80 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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