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

C2CD2 Gene

protein-coding   GIFtS: 45
GCID: GC21M043306

C2 Calcium-Dependent Domain Containing 2

(Previous name: chromosome 21 open reading frame 25)
(Previous symbol: C21orf25)
  Search for C2CD2
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
C2 Calcium-Dependent Domain Containing 21 2     Chromosome 21 Open Reading Frame 251
C21orf251 2 3     TMEM24L2
C21orf2582 3     C2 Domain-Containing Protein 22
TMEM24-like1     TMEM24 Related Geme2

External Ids:    HGNC: 12661   Entrez Gene: 259662   Ensembl: ENSG000001576177   UniProtKB: Q9Y4263   

Export aliases for C2CD2 gene to outside databases

Previous GC identifers: GC21M042179 GC21M028723


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

GeneCards Summary for C2CD2 Gene: 
C2CD2 (C2 calcium-dependent domain containing 2) is a protein-coding gene. An important paralog of this gene is C2CD2L.


(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  NT_011515.12  NC_018932.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C2CD2 gene promoter:
         GATA-3   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   NF-E2 p45   GATA-1   GATA-2   AREB6   PPAR-alpha   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC2CD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for C2CD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2CD2


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

C2CD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2CD2 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M043306:  view genomic region     (about GC identifiers)

Start:
43,305,219 bp from pter      End:
43,373,999 bp from pter
Size:
68,781 bases      Orientation:
minus 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: CU025_HUMAN, Q9Y426 (See protein sequence)
Recommended Name: C2 domain-containing protein 2 precursor  
Size: 696 amino acids; 75533 Da
Subcellular location: Secreted (Potential)
Sequence caution: Sequence=BAA95528.1; Type=Erroneous gene model prediction; Sequence=CAH10536.1;
Type=Miscellaneous discrepancy; Note=Intron retention;
Secondary accessions: Q5R2V7 Q6AHX8 Q9NSE6
Alternative splicing: 3 isoforms:  Q9Y426-1   Q9Y426-2   Q9Y426-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C2CD2: NX_Q9Y426

Explore proteomics data for C2CD2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y426

  • C2CD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C2CD2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_056315.1  NP_950251.1  

    ENSEMBL proteins: 
     ENSP00000388704   ENSP00000329302   ENSP00000369853  

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    Cloud-Clone Corp. Proteins for C2CD2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005634nucleus IDA16780588
    GO:0005829cytosol IDA16780588

    C2CD2 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
    2 InterPro protein domains:
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR000008 C2_Ca-dep

    Graphical View of Domain Structure for InterPro Entry Q9Y426

    ProtoNet protein and cluster: Q9Y426

    1 Blocks protein domain: IPB000008 C2 domain

    UniProtKB/Swiss-Prot: CU025_HUMAN, Q9Y426
    Similarity: Contains 1 C2 domain


    C2CD2 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    C2CD2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for C2CD2:
     Synthetic lethal with Ras 

    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 C2CD2

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

    1 Interacting protein for C2CD2 (ENSP000003698534) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    (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 C2CD2 (CU025)

    Search CenterWatch for drugs/clinical trials and news about C2CD2 / CU025

    (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 C2CD2 gene (2 alternative transcripts): 
    NM_015500.1  NM_199050.2  

    Unigene Clusters for C2CD2:

    C2 calcium-dependent domain containing 2
    Hs.473894  [show with all ESTs], Hs.675058  [show with all ESTs]
    Unigene Representative Sequences: NM_015500, AK129520
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000449165 ENST00000329623(uc002yzs.3 uc002yzt.3 uc002yzu.3 uc002yzv.3)
    ENST00000380486(uc002yzw.3) ENST00000482186 ENST00000482084 ENST00000467074(uc002yzx.1)
    ENST00000490479 ENST00000478372
    miRNA
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    8/66 QIAGEN miScript miRNA Assays for microRNAs that regulate C2CD2 (see all 66):
    hsa-miR-124* hsa-miR-548j hsa-miR-520e hsa-miR-106a hsa-miR-128 hsa-miR-93 hsa-miR-3622b-3p hsa-miR-548a-5p
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    Additional mRNA sequence: AK129520.1 

    11 DOTS entries:

    DT.92425939  DT.314791  DT.91746031  DT.95115516  DT.40190688  DT.100782488  DT.101974274  DT.92425938 
    DT.92425940  DT.40299780  DT.86836116 

    24/141 AceView cDNA sequences (see all 141):

    BM051485 AI168265 BC062323 CA389473 AL833323 NM_199050 CD652977 CD655727 
    AA346439 Z43345 AI523354 BM754719 CA418044 BU728212 AW471070 BM739914 
    BQ183343 BM661883 AI129917 BX510051 BX090151 BM739460 AI242556 AA724624 

    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

    C2CD2 expression in normal human tissues (normalized intensities)      C2CD2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    C2CD2 Expression
    About this image


    C2CD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Adrenal Gland (Endocrine System)
             Adrenal Cortex   
     
     Eye (Sensory Organs)
             Retina
     
     Brain (Nervous System)
             brain/hindbrain   
     
     Spinal Cord (Nervous System)

    See C2CD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C2CD2

    SOURCE GeneReport for Unigene clusters: Hs.473894 Hs.675058
        SABiosciences Custom PCR Arrays for C2CD2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2CD2

    (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 C2CD2 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C2cd21 , 5 C2 calcium-dependent domain containing 21, 5 77.37(n)1
    73.4(a)1
      16 (57.70 cM)5
    2077811  NM_174847.21  NP_777272.21 
     978552105 
    chicken
    (Gallus gallus)
    Aves C2CD21 C2 calcium-dependent domain containing 2 63.85(n)
    57.5(a)
      418532  XM_416741.3  XP_416741.3 
    lizard
    (Anolis carolinensis)
    Reptilia C2CD26
    C2 calcium-dependent domain containing 2
    51(a)
    1 ↔ 1
    3(138088462-138130904)
    zebrafish
    (Danio rerio)
    Actinopterygii C2CD26
    C2 calcium-dependent domain containing 2
    38(a)
    1 ↔ 1
    10(34257606-34370562)


    ENSEMBL Gene Tree for C2CD2 (if available)
    TreeFam Gene Tree for C2CD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C2CD2 gene
    C2CD2L2  
    1 SIMAP similar gene for C2CD2 using alignment to 3 protein entries:     CU025_HUMAN (see all proteins):
    C2CD2L

    C2CD2 for paralogs           About GeneDecksing



    (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

    10/1892 SNPs in C2CD2 are shown (see all 1892)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1134610231,2
    C--33809858(+) TTTTTT/-GAGAC 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs1917776841,2
    --43304755(+) AGCATC/TGGGCT 2 -- int10--------
    rs1460124871,2
    --43304779(+) TACACA/GGTGTC 2 -- int10--------
    rs1825138081,2
    --43304793(+) CGAGCA/GGGCGG 2 -- int10--------
    rs15399681,2
    C,F,A,H--43304884(+) CACGTG/TCTCTG 2 -- int120Minor allele frequency- T:0.09NS EA NA WA 2310
    rs739061291,2
    C,F--43304960(+) GGCACG/AATGCC 2 -- int12Minor allele frequency- A:0.08WA 120
    rs781107841,2
    C--43304989(+) CACGTC/ATGTGA 2 -- int14Minor allele frequency- A:0.10NA EA 244
    rs1876202881,2
    --43305031(+) CGTGAA/GCCCCA 2 -- int10--------
    rs739061301,2
    C,F--43305183(+) GGACTT/CCCAGG 2 -- int13Minor allele frequency- C:0.19WA CSA 122
    rs31681,2
    C,F,A,H--43305435(+) TGCCAT/CTTTCT 2 -- ut31 trp331Minor allele frequency- C:0.17EA NA MN NS WA CSA 3424

    HapMap Linkage Disequilibrium report for C2CD2 (43305219 - 43373999 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for C2CD2 (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2723511CNV Deletion23290073
    esv2677768CNV Deletion23128226
    esv2723509CNV Deletion23290073
    esv2345767CNV Deletion18987734
    esv2659365CNV Deletion23128226
    esv2723510CNV Deletion23290073
    esv2723513CNV Deletion23290073
    esv2723512CNV Deletion23290073
    nsv459271CNV Loss19166990
    nsv817931CNV Loss17921354

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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

    C2CD2 for disorders           About MalaCards

    C2CD2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C2CD2

    Export disorders for C2CD2 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 C2CD2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C2CD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of TMEM24 family genes in silico. (PubMed id 15289880)1, 3, 9 Katoh M. and Katoh M. (2004)
    2. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
    3. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    4. 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)
    5. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    6. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins. (PubMed id 16780588)1 Hu Y.H....Janitz M. (2006)
    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. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (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: 25966 HGNC: 1266 AceView: C21orf25 Ensembl:ENSG00000157617 euGenes: HUgn25966
    ECgene: C2CD2 H-InvDB: C2CD2

    (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 C2CD2 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 C2CD2 gene:
    Search GeneIP for patents involving C2CD2

    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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