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

C21orf62 Gene

protein-coding   GIFtS: 40
GCID: GC21M034163

Chromosome 21 Open Reading Frame 62

(Previous name: chromosome 21 open reading frame 120)
(Previous symbol: C21orf120)
  See related disease
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 21 Open Reading Frame 621 2
C21orf1201 2 3
B372 3
Chromosome 21 Open Reading Frame 1201
PRED812
Uncharacterized Protein C21orf622

External Ids:    HGNC: 13051   Entrez Gene: 562452   Ensembl: ENSG000002059297   UniProtKB: Q9NYP83   

Export aliases for C21orf62 gene to outside databases

Previous GC identifers: GC21M030743 GC21M033086 GC21M033087 GC21M019572


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

GeneCards Summary for C21orf62 Gene: 
C21orf62 (chromosome 21 open reading frame 62) is a protein-coding gene. Diseases associated with C21orf62 include down syndrome. GO annotations related to this gene include molecular_function.


(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_000021.8  NC_018932.2  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C21orf62 gene promoter:
         FOXI1   HFH-3   HOXA3   FOXJ2 (long isoform)   MyoD   Hand1   FOXJ2   TGIF   FOXL1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC21orf62 promoter sequence
   Search SABiosciences Chromatin IP Primers for C21orf62

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C21orf62


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

Entrez Gene cytogenetic band: 21q22.11   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.1

C21orf62 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C21orf62 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M034163:  view genomic region     (about GC identifiers)

Start:
34,162,984 bp from pter      End:
34,186,053 bp from pter
Size:
23,070 bases      Orientation:
minus strand

1 alternative location:
Chr21-,NW_003315969 21,595-44,649     

(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: CU062_HUMAN, Q9NYP8 (See protein sequence)
Recommended Name: Uncharacterized protein C21orf62  
Size: 219 amino acids; 24886 Da
Sequence caution: Sequence=AAF72946.1; Type=Frameshift; Positions=181;
Secondary accessions: A8K4L8

Explore the universe of human proteins at neXtProt for C21orf62: NX_Q9NYP8

Explore proteomics data for C21orf62 at MOPED 

C21orf62 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

C21orf62 Protein Expression

REFSEQ proteins (3 alternative transcripts): 
NP_001155967.2  NP_001155968.2  NP_062542.5  

ENSEMBL proteins: 
 ENSP00000418830   ENSP00000418511   ENSP00000371810   ENSP00000418653   ENSP00000444950  

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005575cellular_component ND--

C21orf62 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: Q9NYP8


(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

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
     
C21orf62 for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for C21orf62:
 Decreased viability with pacli  Increased gamma-H2AX phosphory 

     1 MGI mutant phenotype (inferred from 1 allele(MGI details for 4932438H23Rik):
 skeleton 

C21orf62 for phenotypes           About GeneDecksing

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 C21orf62

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008150biological_process ND--

C21orf62 for ontologies           About GeneDecksing



(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 C21orf62 (CU062)

Search CenterWatch for drugs/clinical trials and news about C21orf62 / CU062

(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,
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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 C21orf62 gene (3 alternative transcripts): 
NM_001162495.2  NM_001162496.2  NM_019596.5  

Unigene Cluster for C21orf62:

Chromosome 21 open reading frame 62
Hs.517235  [show with all ESTs]
Unigene Representative Sequence: NM_001162495
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000490358 ENST00000487113 ENST00000382373 ENST00000479548 ENST00000536776(uc010glz.3 uc011adt.2 uc011adu.2)

miRNA
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8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate C21orf62 (see all 16):
hsa-miR-148b* hsa-miR-218-1* hsa-miR-10b* hsa-miR-29a* hsa-miR-205* hsa-miR-589 hsa-miR-1290 hsa-miR-548p
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Inhib. RNA
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Additional mRNA sequence: 

AF231922.1 AK290983.1 BC069689.1 BC069709.1 BC069766.1 BC069779.1 DQ656042.2 EF212282.1 

2 DOTS entries:

DT.40252437  DT.97822097 

19 AceView cDNA sequences:

NM_019596 BU789645 BC069689 AF231922 BX431204 BU789798 BX419841 BG400537 
BC069766 BM564997 AI888342 BM512397 BC069709 AW235949 BC069779 BU789528 
BU789917 H11666 H11586 

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

C21orf62 expression in normal human tissues (normalized intensities)      C21orf62 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTTTTATTCC
C21orf62 Expression
About this image


C21orf62 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/3 selected tissues (see all 3) fully expand
 
 Brain (Nervous System)    fully expand to see all 2 entries
         Fetal Neuronal Stem Cells (NSC)   
         brain/hindbrain   
 
 Heart (Cardiovascular System)    fully expand to see all 2 entries
         Left Ventricle
 
 Neural Tube (Nervous System)
         Metencephalon

 -- (Nervous System)
         mouse/organ system/nervous system/central nervous system   

See C21orf62 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C21orf62

SOURCE GeneReport for Unigene cluster: Hs.517235
    SABiosciences Custom PCR Arrays for C21orf62
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C21orf62

(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 C21orf62 gene from 3/8 species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 4932438H23Rik1 , 5 RIKEN cDNA 4932438H23 gene1, 5 79.4(n)1
70.28(a)1
  16 (52.35 cM)5
743871  NM_028905.31  NP_083181.11 
 910539355 
chicken
(Gallus gallus)
Aves C1H21orf621 chromosome 1 open reading frame, human C21orf62 63.51(n)
57.82(a)
  418501  XM_416709.1  XP_416709.1 
lizard
(Anolis carolinensis)
Reptilia C21ORF626
Uncharacterized protein
41(a)
1 ↔ 1
3(145082447-145083793)


ENSEMBL Gene Tree for C21orf62 (if available)
TreeFam Gene Tree for C21orf62 (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

10/329 SNPs in C21orf62 are shown (see all 329)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs130507781,2
C,F--34170535(+) CTACTT/CGGGAG 3 -- int17Minor allele frequency- C:0.29NA WA CSA 14
rs1423127671,2
--34170570(+) TCTGAG/TAATTC 3 -- int10--------
rs1905989501,2
--34170630(+) AGAAAC/TAGGGA 3 -- int10--------
rs1176494651,2
F--34170852(+) TTTCTC/TTCAAG 3 -- int11Minor allele frequency- T:0.01EA 120
rs1830372371,2
--34171026(+) TCCCAC/GCATTT 3 -- int10--------
rs1508282591,2
--34171293(+) TAATAA/CTAATG 3 -- int10--------
rs1392313271,2
--34171391(+) ATGAAA/TGGGAT 3 -- int10--------
rs1153257571,2
C--34171481(+) GGCCAA/GGTAGG 3 -- int10--------
rs1116371061,2
C,F--34171673(+) AGGGCC/TCCTCG 3 -- int12Minor allele frequency- T:0.50CSA 4
rs1842572991,2
--34171897(+) TGACTA/CTTGAG 3 -- int10--------

HapMap Linkage Disequilibrium report for C21orf62 (34162984 - 34186053 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for C21orf62:    About this table     
Variant IDTypeSubtypePubMed ID
nsv509793CNV Insertion20534489
nsv834086CNV Loss17160897

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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
2 diseases for C21orf62:    About MalaCards
down syndrome    


C21orf62 for disorders           About GeneDecksing

Genetic Association Database (GAD): C21orf62

Export disorders for C21orf62 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 C21orf62 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C21orf62)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21. (PubMed id 10773462)1, 2 Slavov D.... Gardiner K. (2000)
  2. Functional analysis and identification of cis-regulat ory elements of human chromosome 21 gene promoters. (PubMed id 20494980)1 Warnatz H.J....Yaspo M.L. (2010)
  3. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (2007)
  4. Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. (PubMed id 17567994)1 Denoeud F....Reymond A. (2007)
  5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
  6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
  7. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
  8. Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis. (PubMed id 12036298)1 Gardiner K....Davisson M. (2002)
  9. 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)
  10. The DNA sequence of human chromosome 21. (PubMed id 10830953)2 Hattori M....Yaspo M.L. (2000)

(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: 56245 HGNC: 1305 AceView: C21orf62 Ensembl:ENSG00000205929 euGenes: HUgn56245
ECgene: C21orf62 H-InvDB: C21orf62

(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 C21orf62 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 C21orf62 gene:
Search GeneIP for patents involving C21orf62

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

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