Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

C21orf2 Gene

protein-coding   GIFtS: 51
GCID: GC21M045749

Chromosome 21 Open Reading Frame 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

Aliases
Chromosome 21 Open Reading Frame 21 2
YF5/A22 3
Nuclear Encoded Mitochondrial Protein1
Nuclear Encoded Mitochondrial Protein, CDNA A2-YF511
Nuclear Encoded Mitochondrial Protein C21orf22
C21orf-HUMF09G8.53

External Ids:    HGNC: 12601   Entrez Gene: 7552   Ensembl: ENSG000001602267   OMIM: 6031915   UniProtKB: O438223   

Export aliases for C21orf2 gene to outside databases

Previous GC identifers: GC21M042258 GC21M042341 GC21M044605 GC21M044573 GC21M031119


(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 C21orf2 Gene:
Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear
gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of
them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome
(DS) brain, which may represent mitochondrial dysfunction in DS patients. (provided by RefSeq, Sep 2012)

GeneCards Summary for C21orf2 Gene: 
C21orf2 (chromosome 21 open reading frame 2) is a protein-coding gene. Diseases associated with C21orf2 include down syndrome, and friedreich ataxia. GO annotations related to this gene include molecular_function.

UniProtKB/Swiss-Prot: CU002_HUMAN, O43822
Function: May play roles in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of
cell morphology and cytoskeletal organization




(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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.2  NT_011515.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C21orf2 gene promoter:
         Spz1   AML1a   Pax-6   STAT5A   NF-kappaB   GATA-2   YY1   AREB6   NF-kappaB2   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

   Search SABiosciences Chromatin IP Primers for C21orf2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C21orf2


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

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
C21orf2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C21orf2 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M045749:   GeneLoc Nature:405,311-319
Start:
45,748,827 bp from pter       31,258,219 bp from centromere
End:
45,759,285 bp from pter 31,268,538 bp from centromere
Size:
10,459 bases 10,320 bases
Orientation:
minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: Y11392
genomic clones: Q5B10


(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: CU002_HUMAN, O43822 (See protein sequence)
Recommended Name: Protein C21orf2  
Size: 256 amino acids; 28340 Da
Secondary accessions: A8MPS9 O14993 Q8N5X6 Q99837 Q99838
Alternative splicing: 4 isoforms:  O43822-1   O43822-2   O43822-3   O43822-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C21orf2: NX_O43822

Explore proteomics data for C21orf2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43822

  • C21orf2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C21orf2 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001258369.1  NP_001258370.1  NP_001258371.1  NP_004919.1  

    ENSEMBL proteins: 
     ENSP00000344566   ENSP00000381047   ENSP00000317302  

    Human Recombinant Protein Products for C21orf2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for C21orf2
    GenScript Custom Purified and Recombinant Proteins Services for C21orf2
    Novus Biologicals C21orf2 Proteins
    Novus Biologicals C21orf2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for C21orf2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--

    C21orf2 for ontologies           About GeneDecksing



    C21orf2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for C21orf2
    GenScript Custom Superior Antibodies Services for C21orf2
    Novus Biologicals C21orf2 Antibodies
    Abcam antibodies for C21orf2
    Cloud-Clone Corp. Antibodies for C21orf2 
    ThermoFisher Antibody for C21orf2
    LSBio Antibodies in human, mouse, rat for C21orf2 

    Assay Products for C21orf2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for C21orf2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for C21orf2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for C21orf2 
    Cloud-Clone Corp. CLIAs for C21orf2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR003603 U2A'_phosphoprotein32A_C
     IPR001611 Leu-rich_rpt
     IPR025875 Leu-rich_rpt_4

    Graphical View of Domain Structure for InterPro Entry O43822

    ProtoNet protein and cluster: O43822

    2 Blocks protein domains:
    IPB001611 Leucine-rich repeat signature
    IPB003603 Leucine-rich-associated


    UniProtKB/Swiss-Prot: CU002_HUMAN, O43822
    Similarity: Contains 3 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRCT domain
    Similarity: To C.elegans F09G8.5


    C21orf2 for domains           About GeneDecksing


    (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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CU002_HUMAN, O43822
    Function: May play roles in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of
    cell morphology and cytoskeletal organization

         Genatlas biochemistry entry for C21orf2:
    chromosome 21 open reading frame 2,mitochondrial protein,25kDa,with two alternatively spliced transcripts,widely
    expressed,encoded by a nuclear gene in the DFNB8/DFNB10 region

         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--
         
    C21orf2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C21orf2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for C21orf2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C21orf2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C21orf2 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C21orf2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate C21orf2
    SwitchGear 3'UTR luciferase reporter plasmidC21orf2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for C21orf2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C21orf2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for C21orf2
    Sirion Biotech Customized adenovirus for overexpression of C21orf2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for C21orf2 (see all 6)
    OriGene ORF clones in mouse, rat for C21orf2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: C21orf2 (NM_004928)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C21orf2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C21orf2
    Sirion Biotech Customized lentivirus for stable overexpression of C21orf2 
                         Customized lentivirus expression plasmids for stable overexpression of C21orf2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for C21orf2
    Search LifeMap BioReagents cell lines for C21orf2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C21orf2


    (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 C21orf2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for C21orf2 (ENSP000003445664) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010cytoskeleton organization IMP--
    GO:0008150biological_process ND--
    GO:0008360regulation of cell shape IMP--
    GO:0030030cell projection organization IEA--
    GO:0060271cilium morphogenesis ----

    C21orf2 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 C21orf2 (CU002)

    Search CenterWatch for drugs/clinical trials and news about C21orf2 / CU002

    (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 C21orf2 gene (4 alternative transcripts): 
    NM_001271440.1  NM_001271441.1  NM_001271442.1  NM_004928.2  

    Unigene Cluster for C21orf2:

    Chromosome 21 open reading frame 2
    Hs.517331  [show with all ESTs]
    Unigene Representative Sequence: AK074162
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339818(uc002zeo.1 uc002zep.2 uc002zer.2 uc002zeq.2)
    ENST00000470196 ENST00000496321 ENST00000462742(uc002zes.1) ENST00000397956
    ENST00000325223 ENST00000478674
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C21orf2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate C21orf2
    SwitchGear 3'UTR luciferase reporter plasmidC21orf2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for C21orf2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C21orf2
    Clone
    Products:
         
    OriGene clones in human, mouse for C21orf2 (see all 6)
    OriGene ORF clones in mouse, rat for C21orf2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: C21orf2 (NM_004928)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C21orf2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C21orf2
    Sirion Biotech Customized lentivirus for stable overexpression of C21orf2 
                         Customized lentivirus expression plasmids for stable overexpression of C21orf2 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for C21orf2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C21orf2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C21orf2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C21orf2

    Additional mRNA sequence: 

    AK074162.1 BC031300.1 BC072012.1 U84569.1 U84570.1 Y11392.1 Z93322.1 

    14 DOTS entries:

    DT.75199150  DT.100024554  DT.207415  DT.40307132  DT.95170249  DT.40132285  DT.433168  DT.75131362 
    DT.121140878  DT.87017391  DT.92425350  DT.121140886  DT.92425351  DT.95170250 

    24/162 AceView cDNA sequences (see all 162):

    AA496622 AA447767 AI391609 BU733416 CA427089 AI301036 CA489339 AI081454 
    Y11392 Z93322 BM023369 BX094326 CA314162 BM761336 BE856252 BM718028 
    AI423069 BF946507 AI744074 NM_004928 BQ189620 BC072012 BM709571 AI598246 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for C21orf2 (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d ^ 11 ^ 12
    SP1:                          -     -     -                                   -                                             
    SP2:                          -     -                                         -                                             
    SP3:                          -     -                                         -                                             
    SP4:                          -     -                                                                                       
    SP5:                                -                                                                                       


    ECgene alternative splicing isoforms for C21orf2

    (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

    C21orf2 expression in normal human tissues (normalized intensities)      C21orf2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCGCAGCCC
    C21orf2 Expression
    About this image


    C21orf2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
             ganglion/cranial   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Lung (Respiratory System)
             Stem Bronchi
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             sensory organ/ear/inner ear   

    See C21orf2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C21orf2

    SOURCE GeneReport for Unigene cluster: Hs.517331
        SABiosciences Custom PCR Arrays for C21orf2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for C21orf2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C21orf2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C21orf2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C21orf2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C21orf2

    (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 animals.

    Orthologs for C21orf2 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1810043G02Rik1 , 5 RIKEN cDNA 1810043G02 gene1, 5 79.52(n)1
    75.5(a)1
      10 (39.72 cM)5
    678841  NM_026431.21  NP_080707.21 
     779785245 
    chicken
    (Gallus gallus)
    Aves C9H21orf21 chromosome 9 open reading frame, human C21orf2 69.09(n)
    64.11(a)
      424866  NM_001006544.1  NP_001006544.1 
    lizard
    (Anolis carolinensis)
    Reptilia C21ORF26
    Uncharacterized protein
    50(a)
    1 ↔ 1
    3(33679053-33686607)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005373911 uncharacterized protein C21orf2-like 62.43(n)
    55.74(a)
      100537391  XM_003199532.1  XP_003199580.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG152086
    CG149956
    --
    22(a)
    22(a)
    many → 1
    many → 1
    X(10794393-10795771)
    3L(4094343-4103256)
    worm
    (Caenorhabditis elegans)
    Secernentea F09G8.56
    Uncharacterized protein F09G8.5
    19(a)
    1 ↔ 1
    III(8254975-8257619)


    ENSEMBL Gene Tree for C21orf2 (if available)
    TreeFam Gene Tree for C21orf2 (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

    10/406 SNPs in C21orf2 are shown (see all 406)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1866894361,2
    C--31118650(+) TCCCTC/GCTGGG 4 -- ds50010--------
    rs1402175731,2
    --31118679(+) GCCTGC/TGTCAG 4 -- ds50010--------
    rs568254651,2
    C,F--31118701(+) GCTGCG/ATGGAG 4 -- ds50012Minor allele frequency- A:0.14WA 120
    rs1464393481,2
    --31118809(+) CTGCTC/TGGCTT 4 -- ds50010--------
    rs1914926551,2
    --31118810(+) TGCTCA/GGCTTG 4 -- ds50010--------
    rs1181870371,2
    F--31118825(+) CCCATT/GTTTGG 4 -- ds50011Minor allele frequency- G:0.03EA 120
    rs1156086421,2
    C,F--31118840(+) ACTTGG/AGGAGG 4 -- ds50011Minor allele frequency- A:0.01WA 118
    rs733740091,2
    C,F--31118880(+) CTGGAC/TGTGCT 4 -- ds50011Minor allele frequency- T:0.50WA 2
    rs2019453531,2
    --31118888(+) GCTTC-/TGGCTG 4 -- ds50010--------
    rs1840460381,2
    --31118923(+) TGAGGA/TGGTGC 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for C21orf2 (45748827 - 45759285 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/18 variations for C21orf2 (see all 18):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2723642CNV Deletion23290073
    esv2723643CNV Deletion23290073
    esv2723638CNV Deletion23290073
    esv1476049CNV Deletion17803354
    esv1005686CNV Deletion20482838
    nsv509800CNV Insertion20534489
    dgv4769n71CNV Loss21882294
    dgv4773n71CNV Loss21882294
    dgv4772n71CNV Loss21882294
    dgv4770n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): C21orf2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C21orf2
    DNA2.0 Custom Variant and Variant Library Synthesis for C21orf2

    (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
    OMIM gene information: 603191    OMIM disorders: --

    4 diseases for C21orf2:    About MalaCards
    down syndrome    friedreich ataxia    ataxia    gastric cancer

    1 disease from the University of Copenhagen DISEASES database for C21orf2:
    Friedreich ataxia

    C21orf2 for disorders           About GeneDecksing


    Export disorders for C21orf2 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 C21orf2 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with C21orf2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis. (PubMed id 9465297)1, 2, 3 Scott H.S.... Antonarakis S.E. (1998)
    2. 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)
    3. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. Identification and characterization of a set of conserved and new regulators of cytoskeletal organisation, cell morphology and migration. (PubMed id 21834987)2 Bai S.W.... Ridley A.J. (2011)
    6. Large-scale proteomics analysis of the human kinome. (PubMed id 19369195)2 Oppermann F.S.... Daub H. (2009)
    7. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    8. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)
    9. Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: challenging the gene dosage effect hypothesis (Part III). (PubMed id 12624744)1 Cheon M.S....Lubec G. (2003)
    10. Reduction of chromatin assembly factor 1 p60 and C21orf2 protein, encoded on chromosome 21, in Down syndrome brain. (PubMed id 15068244)1 Shim K.S....Lubec G. (2003)

    (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: 755 HGNC: 1260 AceView: C21orf2 Ensembl:ENSG00000160226 euGenes: HUgn755
    ECgene: C21orf2 H-InvDB: C21orf2

    (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 C21orf2 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 C21orf2 gene:
    Search GeneIP for patents involving C21orf2

    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

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for C21orf2  
     OriGene qPCR primer pairs and template standards for C21orf2   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for C21orf2  
     Browse OriGene qSTAR qPCR primer pairs   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for C21orf2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for C21orf2   OriGene Custom Protein Services for C21orf2  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C21orf2
     QIAGEN SeqTarget long-range PCR primers for resequencing C21orf2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C21orf2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C21orf2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C21orf2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C21orf2
     GenScript Custom Purified and Recombinant Proteins Services for C21orf2 GenScript cDNA clones with any tag delivered in your preferred vector for C21orf2
     GenScript Custom Assay Services for C21orf2 GenScript Custom Superior Antibodies Services for C21orf2
     GenScript Custom overexpressing Cell Line Services for C21orf2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in C21orf2 promoter
     Search Chromatin IP Primers for C21orf2
     RT2 qPCR Primer Assay in human, mouse, rat C21orf2
     Search GNC Networks for C21orf2
     SABiosciences Custom PCR Arrays for C21orf2
     Search Tocris compounds for C21orf2 (CU002)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     C21orf2 antibodies
     C21orf2 proteins
     C21orf2 lysates
     Antibodies for C21orf2
     See all of Abcam's Antibodies, Kits and Proteins for C21orf2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for C21orf2
     Antibodies for C21orf2
     ELISAs for C21orf2
     CLIAs for C21orf2
     Search LifeMap BioReagents cell lines for C21orf2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C21orf2
     SwitchGear 3'UTR luciferase reporter plasmids for C21orf2
     Browse SwitchGear Promoter luciferase reporter plasmids for C21orf2
     ThermoFisher Antibody for C21orf2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C21orf2
     inGenious Targeting Laboratory - Custom generated mouse model solutions for C21orf2
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for C21orf2
    Customized:
     lentivirus for stable overexpression of C21orf2
     lentivirus expression plasmids for stable overexpression of C21orf2
     adenovirus for overexpression of C21orf2
     LSBio Antibodies in human, mouse, rat for C21orf2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    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

    Hot genes      Disease genes      C21orf2 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4