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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C20orf197 Gene

protein-coding   GIFtS: 34
GCID: GC20P058630          (predicted)

Chromosome 20 Open Reading Frame 197

  Search for C20orf197
at  

(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 20 Open Reading Frame 1971 2
RP5-1017F8.12
Uncharacterized Protein C20orf1972

External Ids:    HGNC: 266011   Entrez Gene: 2847562   Ensembl: ENSG000001766597   UniProtKB: Q8N2683   

Export aliases for C20orf197 gene to outside databases

Previous GC identifers: GC20P058065 GC20P055418


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

GeneCards Summary for C20orf197 Gene: 
C20orf197 (chromosome 20 open reading frame 197) is a protein-coding 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C20orf197 gene promoter:
         Max1   LHX3b/Lhx3b   AML1a   MyoD   Olf-1   Tal-1beta   HNF-1A   HNF-1   LHX3a/Lhx3a   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC20orf197 promoter sequence
   Search SABiosciences Chromatin IP Primers for C20orf197

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C20orf197


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

Entrez Gene cytogenetic band: 20q13.33   Ensembl cytogenetic band:  20q13.33   HGNC cytogenetic band: 20q13.33

C20orf197 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C20orf197 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P058630:  view genomic region     (about GC identifiers)

Start:
58,630,980 bp from pter      End:
58,648,008 bp from pter
Size:
17,029 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: CT197_HUMAN, Q8N268 (See protein sequence)
Recommended Name: Uncharacterized protein C20orf197  
Size: 126 amino acids; 14459 Da
Secondary accessions: Q08EQ0
Alternative splicing: 2 isoforms:  Q8N268-1   Q8N268-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C20orf197: NX_Q8N268

Explore proteomics data for C20orf197 at MOPED 

C20orf197 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

C20orf197 Protein Expression

REFSEQ proteins: NP_775915.1  
ENSEMBL proteins: 
 ENSP00000316457  

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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: Q8N268


(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

Animal Models:
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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 CentralTM Interacting Genes and Proteins Networks for C20orf197

(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 C20orf197 (CT197)

Search CenterWatch for drugs/clinical trials and news about C20orf197 / CT197

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 C20orf197 gene: 
NM_173644.1  

Unigene Cluster for C20orf197:

Chromosome 20 open reading frame 197
Hs.335319  [show with all ESTs]
Unigene Representative Sequence: AY358539
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000313426(uc002ybj.1)
miRNA
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Additional mRNA sequence: 

AK091179.1 AY358539.1 BC101349.1 BC101350.1 BC101351.2 

3 DOTS entries:

DT.40305158  DT.97801103  DT.75164213 

15 AceView cDNA sequences:

NM_173644 BU730836 AI948478 AI522199 AA312243 AK091179 BM708540 AX746831 
CB054966 AY358539 AI937787 BV170537 BC016338 BF241953 AW452941 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for C20orf197    About this scheme

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6
SP1:              -                                 
SP2:              -     -                           
SP3:                                -     -         
SP4:                                                


ECgene alternative splicing isoforms for C20orf197

(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

C20orf197 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CAATACTAAT
C20orf197 Expression
About this image


See C20orf197 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C20orf197

SOURCE GeneReport for Unigene cluster: Hs.335319
    SABiosciences Custom PCR Arrays for C20orf197
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C20orf197

(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 chimp.

Orthologs for C20orf197 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia C20H20orf1971 chromosome 20 open reading frame, human C20orf197 99.47(n)
99.2(a)
  100615321  XM_003317039.1  XP_003317087.1 


ENSEMBL Gene Tree for C20orf197 (if available)
TreeFam Gene Tree for C20orf197 (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, 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

10/449 SNPs in C20orf197 are shown (see all 449)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1868462971,2
--58628991(+) AGCCAC/TGGGGA 1 -- us2k10--------
rs1475881031,2
--58629007(+) GGAAGC/GGGGCA 1 -- us2k10--------
rs1177394901,2
F--58629041(+) GAAGGC/GCTGCA 1 -- us2k11Minor allele frequency- G:0.01EA 120
rs1929894261,2
--58629099(+) AGAAGG/TTCTGC 1 -- us2k10--------
rs1420015401,2
--58629150(+) GAGTTG/TATACA 1 -- us2k10--------
rs1420365321,2
--58629190(+) ATCCTA/GGGCTG 1 -- us2k10--------
rs1511222431,2
C--58629219(+) AGTGTA/GTGCCT 1 -- us2k10--------
rs1142225811,2
C,F--58629232(+) AAAACC/TTCGGC 1 -- us2k11Minor allele frequency- T:0.03WA 118
rs1410786591,2
--58629299(+) TTCAAA/GTTTGG 1 -- us2k10--------
rs81143371,2
C,F,H--58629356(+) GGAAAT/CGGAAT 1 -- us2k18Minor allele frequency- C:0.12NS EA WA 640

HapMap Linkage Disequilibrium report for C20orf197 (58630980 - 58648008 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for C20orf197:    About this table     
Variant IDTypeSubtypePubMed ID
esv2559283CNV Deletion19546169
esv269591CNV Insertion20981092
esv2631555CNV Insertion19546169
nsv819951CNV Gain19587683

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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

C20orf197 for disorders           About MalaCards

C20orf197 for disorders           About GeneDecksing

Genetic Association Database (GAD): C20orf197

Export disorders for C20orf197 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 C20orf197 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C20orf197)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 3 Clark H.F.... Gray A.M. (2003)
  4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
  5. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (2007)
  6. 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
 ANDOR
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: 284756 HGNC: 26601 AceView: FLJ33860 Ensembl:ENSG00000176659 euGenes: HUgn284756
ECgene: C20orf197 H-InvDB: C20orf197

(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
NameDescription
PharmGKB entry for C20orf197 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for C20orf197 gene:
Search GeneIP for patents involving C20orf197

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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

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


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

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