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

C2CD4C Gene

protein-coding   GIFtS: 37
GCID: GC19M000363

C2 Calcium-Dependent Domain Containing 4C

(Previous names: KIAA1957, family with sequence similarity 148, member C)
(Previous symbols: KIAA1957, FAM148C)
  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
C2 Calcium-Dependent Domain Containing 4C1 2     Nuclear Localized Factor 31 2
KIAA19571 2 3 5     Nuclear-Localized Factor 32 3
FAM148C1 2 3     C2 Calcium-Dependent Domain-Containing Protein 4C2
NLF32 3 5     Protein FAM148C3
Family With Sequence Similarity 148, Member C1 2     

External Ids:    HGNC: 294171   Entrez Gene: 1265672   Ensembl: ENSG000001831867   OMIM: 6103365   UniProtKB: Q8TF443   

Export aliases for C2CD4C gene to outside databases

Previous GC identifer: GC19M000177


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

GeneCards Summary for C2CD4C Gene: 
C2CD4C (C2 calcium-dependent domain containing 4C) is a protein-coding gene. Diseases associated with C2CD4C include endotheliitis. An important paralog of this gene is C2CD4D.


(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_000019.9  NC_018930.2  NT_011255.14  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for C2CD4C
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C2CD4C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2CD4C


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

C2CD4C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2CD4C gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M000363:  view genomic region     (about GC identifiers)

Start:
405,438 bp from pter      End:
409,170 bp from pter
Size:
3,733 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: C2C4C_HUMAN, Q8TF44 (See protein sequence)
Recommended Name: C2 calcium-dependent domain-containing protein 4C  
Size: 421 amino acids; 44576 Da
Sequence caution: Sequence=BAB85543.1; Type=Erroneous initiation;
Secondary accessions: Q8N3H7

Explore the universe of human proteins at neXtProt for C2CD4C: NX_Q8TF44

Explore proteomics data for C2CD4C at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TF44

  • C2CD4C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C2CD4C Protein Expression
    REFSEQ proteins: NP_001129735.1  
    ENSEMBL proteins: 
     ENSP00000328677  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR018029 C2_membr_targeting
     IPR000008 C2_Ca-dep

    Graphical View of Domain Structure for InterPro Entry Q8TF44

    ProtoNet protein and cluster: Q8TF44

    1 Blocks protein domain: IPB000008 C2 domain

    UniProtKB/Swiss-Prot: C2C4C_HUMAN, Q8TF44
    Similarity: Belongs to the C2CD4 family
    Similarity: Contains 1 C2 domain


    C2CD4C 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 ----
         
    C2CD4C for ontologies           About GeneDecksing


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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 C2CD4C

    (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 C2CD4C (C2C4C)

    Search CenterWatch for drugs/clinical trials and news about C2CD4C / C2C4C

    (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 C2CD4C gene: 
    NM_001136263.1  

    Unigene Cluster for C2CD4C:

    C2 calcium-dependent domain containing 4C
    Hs.223770  [show with all ESTs]
    Unigene Representative Sequence: NM_001136263
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000332235(uc002loo.3)
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C2CD4C

    Additional mRNA sequence: 

    AB075837.1 AL834341.1 

    2 DOTS entries:

    DT.91732470  DT.97835024 

    23 AceView cDNA sequences:

    CA432780 CR609064 CR616939 AB075837 AL557025 BF057159 BX433270 AI653135 
    BX452338 BE552013 BM450741 AI989838 AL537714 AW613736 CD514709 BX433271 
    AL566954 AL834341 AI962291 AL579128 AW291099 BM930056 AI039029 

    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

    C2CD4C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAGAGACG
    C2CD4C Expression
    About this image


    See C2CD4C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C2CD4C

    SOURCE GeneReport for Unigene cluster: Hs.223770
        SABiosciences Custom PCR Arrays for C2CD4C
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2CD4C

    (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 C2CD4C gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C2cd4c1 , 5 C2 calcium-dependent domain containing 4C1, 5 84.13(n)1
    91.39(a)1
      10 (39.72 cM)5
    2373971  NM_001168624.11  NP_001162095.11 
     796068575 
    chicken
    (Gallus gallus)
    Aves C2CD4C1 C2 calcium-dependent domain containing 4C 71.96(n)
    69.02(a)
      428334  XM_425894.2  XP_425894.2 
    lizard
    (Anolis carolinensis)
    Reptilia C2CD4C6
    Uncharacterized protein
    65(a)
    1 ↔ 1
    AAWZ02037909(7553-8839)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.134202 Transcribed sequence with weak similarity to protein more 78.93(n)    BX731430.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5687541 c2 calcium-dependent domain-containing protein 4C-like 61.61(n)
    59.7(a)
      568754  XM_692105.2  XP_697197.2 


    ENSEMBL Gene Tree for C2CD4C (if available)
    TreeFam Gene Tree for C2CD4C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C2CD4C gene
    C2CD4D2  C2CD4B2  C2CD4A2  

    C2CD4C 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

    10/190 SNPs in C2CD4C are shown (see all 190)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1851416701,2
    --404967(+) GGGGGA/GACGGG 1 -- ds50010--------
    rs1899019701,2
    C--404982(+) TGCCCC/TGAGGG 1 -- ds50010--------
    rs1825675571,2
    C--405002(+) GGGGAC/TGGGGT 1 -- ds50010--------
    rs1858063691,2
    --405043(+) TCCTGC/TCCTGA 1 -- ds50010--------
    rs1917727351,2
    --405062(+) GGGGGA/GACGGG 1 -- ds50010--------
    rs1836003151,2
    --405088(+) GTGTGA/GGGGGG 1 -- ds50010--------
    rs735019591,2
    C--405116(+) GAGGGG/CGTCTG 1 -- ds50014Minor allele frequency- C:0.15WA CSA NA 241
    rs1159641751,2
    C,F--405159(+) GGAGGC/TGGGAC 1 -- ds50012Minor allele frequency- T:0.07WA EA 238
    rs591690621,2
    C,F--405164(+) CGGGAC/TCCACC 1 -- ds50019Minor allele frequency- T:0.42WA NA CSA EA 369
    rs72545561,2
    C,F--405234(+) GAACCA/GTGAAG 1 -- ds50017Minor allele frequency- G:0.49WA NA CSA EA 366

    HapMap Linkage Disequilibrium report for C2CD4C (405438 - 409170 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/19 variations for C2CD4C (see all 19):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2671474CNV Deletion23128226
    nsv509712CNV Insertion20534489
    nsv470101CNV Loss18288195
    nsv910089CNV Loss21882294
    dgv3499n71CNV Loss21882294
    nsv910083CNV Loss21882294
    nsv817810CNV Loss17921354
    dgv3503n71CNV Loss21882294
    nsv910112CNV Loss21882294
    dgv3498n71CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
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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
    OMIM gene information: 610336    OMIM disorders: --

    2 diseases for C2CD4C:    About MalaCards
    endotheliitis    


    C2CD4C for disorders           About GeneDecksing


    Export disorders for C2CD4C 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 C2CD4C gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C2CD4C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)1, 2, 3 Nagase T.... Ohara O. (2001)
    2. A novel gene family induced by acute inflammation in endothelial cells. (PubMed id 15527968)1, 2 Warton K.... Stanley K.K. (2004)
    3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    4. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)

    (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: 126567 HGNC: 29417 AceView: KIAA1957 Ensembl:ENSG00000183186 euGenes: HUgn126567
    ECgene: C2CD4C H-InvDB: C2CD4C

    (According to HUGE)
    About This Section
    HUGE: KIAA1957

    (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 C2CD4C 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 C2CD4C gene:
    Search GeneIP for patents involving C2CD4C

    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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    (GIFtS: 73)
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