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

CCDC38 Gene

protein-coding   GIFtS: 40
GCID: GC12M096260

coiled-coil domain containing 38

  Search for CCDC38
in our new
 Human Malady Compendium 
Biological research products
for CCDC38
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Coiled-Coil Domain Containing 381 2
FLJ400891
Coiled-Coil Domain-Containing Protein 382

External Ids:    HGNC: 268431   Entrez Gene: 1209352   Ensembl: ENSG000001659727   UniProtKB: Q502W73   

Export aliases for CCDC38 gene to outside databases

Previous GC identifers: GC12M094764 GC12M093325


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

  --

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC38 gene promoter:
         SRF   Pax-5   SRF (504 AA)   CUTL1   Nkx2-5   Max   CP2   FOXJ2 (long isoform)   FOXJ2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC38 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCDC38

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC38


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

Entrez Gene cytogenetic band: 12q23.1   Ensembl cytogenetic band:  12q23.1   HGNC cytogenetic band: 12q23.1

CCDC38 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC38 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M096260:  view genomic region     (about GC identifiers)

Start:
96,260,826 bp from pter      End:
96,336,752 bp from pter
Size:
75,927 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CCD38_HUMAN, Q502W7 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 38  
Size: 563 amino acids; 65315 Da
Secondary accessions: Q8N835

Explore the universe of human proteins at neXtProt for CCDC38: NX_Q502W7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q502W7

  • CCDC38 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_872302.2  
    ENSEMBL proteins: 
     ENSP00000447129   ENSP00000345470   ENSP00000449001   ENSP00000447966   ENSP00000448644  

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    Uscn ELISAs and CLIAs for CCDC38


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CCDC38 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR025252 DUF4200

    Graphical View of Domain Structure for InterPro Entry Q502W7

    ProtoNet protein and cluster: Q502W7


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    1 GenomeRNAi human phenotype for CCDC38:
     Decreased viability with pacli 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CCDC38

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CCDC38
    Search CenterWatch for drugs/clinical trials and news about CCDC38 / CCD38 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CCDC38 gene: 
    NM_182496.2  

    Unigene Cluster for CCDC38:

    Coiled-coil domain containing 38
    Hs.210377  [show with all ESTs]
    Unigene Representative Sequence: BC047659
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000546816 ENST00000549876 ENST00000344280(uc001tek.2) ENST00000548771
    ENST00000546947 ENST00000546803 ENST00000549752 ENST00000546386

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    Additional cDNA sequence: 

    AK097408.1 BC047659.1 BC095479.1 

    4 DOTS entries:

    DT.92442627  DT.95344418  DT.40128960  DT.101987376 

    13 AceView cDNA sequences:

    NM_182496 AK097408 BG720633 BI459337 AA311881 BC047659 AI041129 BV188329 
    AI025768 AI827702 BG772285 AI078473 BC030712 

    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

    CCDC38 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATACCTAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CCDC38 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC38

    SOURCE GeneReport for Unigene cluster: Hs.210377
        SABiosciences Custom PCR Arrays for CCDC38
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC38

    (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 CCDC38 gene from 3/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc381 , 5 coiled-coil domain containing 381, 5 75.85(n)1
    69.41(a)1
      10 (48.55 cM)5
    2374651  NM_175488.61  NP_780697.21 
     935406325 
    zebrafish
    (Danio rerio)
    Actinopterygii ccdc376
    FP017169.26
    --
    31(a)
    31(a)
    possible ortholog
    possible ortholog
    6(23727453-23748490)
    6(21499610-21524180)
    honey bee
    (Apis mellifera)
    Insecta --
    --
    15(a)
    possible ortholog
    GroupUn.35(20631-23430)


    ENSEMBL Gene Tree for CCDC38 (if available)
    TreeFam Gene Tree for CCDC38 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CCDC38 gene
    CCDC372  
    1 SIMAP similar gene for CCDC38 using alignment to 5 protein entries:     CCD38_HUMAN (see all proteins):
    CCDC37

    CCDC38 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1427 NCBI SNPs in CCDC38 are shown (see all 1427    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1386066281,2
    --96260775(+) ACTTAG/TGATAT 1 -- int10--------
    rs1493038341,2
    C,--96260868(+) AAAATA/GTTCTT 2 H Y mis10--------
    rs732277751,2
    C,,--96260886(+) TGATTC/TTGTTT 2 K E mis10--------
    rs1388544571,2
    C,F,--96260923(+) TGTTTG/TTTACC 2 K N mis11Minor allele frequency- T:0.00NA 4410
    rs1420749191,2
    C,F,--96260937(+) TGGAGG/TTTTTG 2 T P mis11Minor allele frequency- T:0.00NA 4408
    rs79607061,2
    C,F,A,H,--96260947(+) GAATGA/GAAGAC 2 F syn134Minor allele frequency- G:0.33NA NS EA WA EU 9045
    rs1397304271,2
    C,F,--96260948(+) AATGAA/CAGACA 2 C F mis11Minor allele frequency- C:0.00NA 4376
    rs1445296611,2
    --96261051(+) TTAACA/TTGATT 1 -- int10--------
    rs1143988201,2
    --96261117(+) ATAACA/CTAACG 1 -- int10--------
    rs747875611,2
    C,F,--96261121(+) CCTAAC/TGGATG 1 -- int12Minor allele frequency- T:0.02WA EA 238

    HapMap Linkage Disequilibrium report for CCDC38 (96260826 - 96336752 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CCDC38: --

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CCDC38 for disorders           About MalaCards

    CCDC38 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: CCDC38 (1 document)

    Export disorders for CCDC38 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 CCDC38 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CCDC38)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Genome-wide association and large-scale follow up iden tifies 16 new loci influencing lung function. (PubMed id 21946350)1 Soler Artigas M....Tobin M.D. (2011)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    5. 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)

    (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: 120935 HGNC: 26843 AceView: FLJ40089 Ensembl:ENSG00000165972 euGenes: HUgn120935
    ECgene: CCDC38 H-InvDB: CCDC38

    (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 CCDC38 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 CCDC38 gene:
    Search GeneIP for patents involving CCDC38

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC38
     Browse SwitchGear 3'UTR luciferase reporter plasmids for CCDC38
     SwitchGear Promoter luciferase reporter plasmids for CCDC38
     ThermoFisher Antibodies for CCDC38
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC38
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    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 


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