C20orf194 Gene
protein-coding GIFtS: 40
GCID: GC20M003226
|
|
chromosome 20 open reading frame 194
| |
Aliases
for C20orf194 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Chromosome 20 Open Reading Frame 1941 2 | | DKFZp434N0611 | | Uncharacterized Protein C20orf1942 |
Export aliases for C20orf194 gene to outside databasesPrevious GC identifer: GC20M003179 |
Summaries
for C20orf194 gene(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 C20orf194:
This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a diseasecandidate. (provided by RefSeq, Dec 2011)
UniProtKB/Swiss-Prot: CT194_HUMAN, Q5TEA3Function: May act as an effector for ARL3
|
Genomic Views
for C20orf194 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000020.10 NC_018931.1 NT_011387.8
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the C20orf194 gene promoter:
Egr-3 TBP RelA NF-kappaB Evi-1 AREB6 POU2F1 POU2F1a NF-kappaB1 ATF
Other transcription factors
Search SABiosciences Chromatin IP Primers for C20orf194
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C20orf194 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 20p13 Ensembl cytogenetic band: 20p13 HGNC cytogenetic band: 20p13C20orf194 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 20 GeneLoc Exon Structure GeneLoc location for GC20M003226: view genomic region
(about GC identifiers)
Start:
|
3,229,948 bp from pter |
End:
|
3,388,272 bp from pter |
Size:
|
158,325 bases |
Orientation:
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minus strand |
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Proteins
for C20orf194 gene
(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: CT194_HUMAN, Q5TEA3 (See
protein sequence)Recommended Name: Uncharacterized protein C20orf194 Size: 1177 amino acids; 132287 Da
Subunit: Interacts with ARL3
Secondary accessions: Q66K86 Q6P2R9 Q9UFX9Explore the universe of human proteins at neXtProt for C20orf194: NX_Q5TEA3
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q5TEA3
C20orf194 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001009984.1
ENSEMBL proteins: ENSP00000252032 ENSP00000407229
Human Recombinant Protein Products:
C20orf194 Antibody Products:
Assay Products for C20orf194: |
Protein
Domains /
Families
for C20orf194 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q5TEA3 |
Function
for C20orf194 gene
(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
|
Function Summary:
UniProtKB/Swiss-Prot: CT194_HUMAN, Q5TEA3Function: May act as an effector for ARL3
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C20orf194 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C20orf194
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for C20orf194 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C20orf194 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C20orf194 |
|
Pathways & Interactions
for C20orf194 gene
(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 CentralTM Interacting Genes and Proteins Networks for C20orf194
|
Drugs & Compounds
for C20orf194 gene(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 Tocris compounds for C20orf194
Search CenterWatch for drugs/clinical trials and news about C20orf194 / CT194
|
Transcripts
for C20orf194 gene(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,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
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 C20orf194 gene: NM_001009984.2 Unigene Cluster for C20orf194: Chromosome 20 open reading frame 194 Hs.516853 [show with all ESTs]Unigene Representative Sequence: NM_0010099843 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000252032(uc002wij.3 uc002wik.2 uc002wii.2 uc010gay.1)
ENST00000498079 ENST00000453730
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C20orf194 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C20orf194
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: C20orf194 (NM_001009984) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C20orf194 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C20orf194 |
Additional cDNA sequence: AK226100.1 AK310540.1 AL110249.1 BC041916.1 BC064352.1 BC080528.1 BC106086.1 BC122529.1 12 DOTS entries: DT.114274 DT.100661373 DT.100680546 DT.100647836 DT.40313465 DT.95075373 DT.95174869 DT.120798101 DT.95268158 DT.92025523 DT.92051855 DT.95358615 24/185 AceView cDNA sequences (see all 185): BE205813 BE298807 CD743066 AI823880 AI498144 BI019912 BC064352 AI369619 BM545094 AI265825 BU735963 CR626597 R46490 AI383620 BE220286 BM698165 N79721 BM051373 AA988210 CD743064 BU617968 BU684737 AW663724 F11115
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for C20orf194 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22a | · | 22b | ^ | 23 | ^ | 24 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | |
| ExUns: | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 |
|---|
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| SP1: | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for C20orf194
|
Expression
for C20orf194 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 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
| C20orf194 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTAAGGACCA
About this image
See C20orf194 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C20orf194
SOURCE GeneReport for Unigene cluster: Hs.516853
SABiosciences Custom PCR Arrays for C20orf194
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C20orf194
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C20orf194 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C20orf194 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C20orf194 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C20orf194 |
Orthologs
for C20orf194 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)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for C20orf194 gene from 4/15 species (see all 15) About this table
ENSEMBL Gene Tree for C20orf194 (if available)
TreeFam Gene Tree for C20orf194 (if available) |
Paralogs
for C20orf194 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for C20orf194 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 20 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for C20orf194 (3229948 - 3388272 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for C20orf194
1 CNV: 5121
2 Indels: 67637 12145 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C20orf194 |
|
Disorders
/ Diseases
for C20orf194 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.)
About This Section
|
C20orf194 for disorders About GeneDecksing
OMIM gene information: 614146
OMIM disorders: --
2  diseases for C20orf194: About MalaCardsspinocerebellar ataxia ataxia
Human Genome Epidemiology (HuGE) Navigator: C20orf194 (1 document)
Export disorders for C20orf194 gene to outside databases
|
Publications
for C20orf194 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)
About This Section
|
PubMed articles for C20orf194 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with C20orf194) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neur on involvement. (PubMed id 21683323)1, 2 Kobayashi H....Koizumi A. (2011)
- 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)
- The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
- Genome-wide association study of interferon-related cy topenia in chronic hepatitis C patients. (PubMed id 21703177)1 Thompson A.J....Muir A.J. (2012)
- An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. (PubMed id 22085962)2 Wright K.J.... Jackson P.K. (2011)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
- Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
|
External Searches for C20orf194 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing C20orf194 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C20orf194 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C20orf194 gene(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 C20orf194 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for C20orf194 gene:
Search GeneIP for patents involving C20orf194
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for C20orf194 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for C20orf194 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C20orf194 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C20orf194 | | | OriGene Protein Over-expression Lysate for C20orf194 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for C20orf194 | | OriGene 3'-UTR Clone for C20orf194 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C20orf194 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C20orf194 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for C20orf194 | | OriGene Custom Protein Services for C20orf194 | | | OriGene Custom Immunoassay Development | | |
| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C20orf194 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C20orf194 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C20orf194 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C20orf194 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C20orf194 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C20orf194 |
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 | | | C20orf194 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C20orf194 |
|  |  |  | | | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C20orf194 |
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