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

CRISPLD2 Gene

protein-coding   GIFtS: 48
GCID: GC16P084853

cysteine-rich secretory protein LCCL domain containing 2

(Previous name: LCCL domain containing cysteine-rich secretory protein...)
(Previous symbol: LCRISP2)
 Explore 3 diseases affiliated with
CRISPLD2 via our new
 Human Malady Compendium 
Biological research products
for CRISPLD2
    

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

Aliases
Cysteine-Rich Secretory Protein LCCL Domain Containing 21 2     CRISP112 3
LCRISP21 2 3     LCCL Domain-Containing Cysteine-Rich Secretory Protein 22 3
LCCL Domain Containing Cysteine-Rich Secretory Protein 21 2     DKFZP434B0441
Cysteine-Rich Secretory Protein 112 3     Cysteine-Rich Secretory Protein LCCL Domain-Containing 22
CRISP-112 3     

External Ids:    HGNC: 252481   Entrez Gene: 837162   Ensembl: ENSG000001031967   OMIM: 6124345   UniProtKB: Q9H0B83   

Export aliases for CRISPLD2 gene to outside databases

Previous GC identifers: GC16P083412 GC16P070606


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

UniProtKB/Swiss-Prot: CRLD2_HUMAN, Q9H0B8
Function: Promotes matrix assembly (By similarity)

Gene Wiki entry for CRISPLD2


(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_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CRISPLD2 gene promoter:
         GR   ER-alpha   RP58   AP-1   RREB-1   HNF-4alpha1   FAC1   GR-alpha   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCRISPLD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CRISPLD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRISPLD2


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

Entrez Gene cytogenetic band: 16q24.1   Ensembl cytogenetic band:  16q24.1   HGNC cytogenetic band: 16q24.1

CRISPLD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRISPLD2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P084853:  view genomic region     (about GC identifiers)

Start:
84,853,587 bp from pter      End:
84,954,374 bp from pter
Size:
100,788 bases      Orientation:
plus 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: CRLD2_HUMAN, Q9H0B8 (See protein sequence)
Recommended Name: Cysteine-rich secretory protein LCCL domain-containing 2 precursor  
Size: 497 amino acids; 55920 Da
Subunit: Binds to heparin, dermatan sulfate and chondroitin sulfate (By similarity)
Subcellular location: Secreted (By similarity)
Secondary accessions: D3DUM0 Q6P590 Q6UWH0 Q6UXC6 Q96IB1 Q96K61
Alternative splicing: 5 isoforms:  Q9H0B8-1   Q9H0B8-2   Q9H0B8-3   Q9H0B8-4   Q9H0B8-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CRISPLD2: NX_Q9H0B8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H0B8

  • CRISPLD2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_113664.1  
    ENSEMBL proteins: 
     ENSP00000262424   ENSP00000456554   ENSP00000457183   ENSP00000457655   ENSP00000454858  
     ENSP00000456952   ENSP00000457259   ENSP00000463171  

    Human Recombinant Protein Products: 
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    Novus Biologicals CRISPLD2 Protein
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CRISPLD2

    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:0030133transport vesicle IDA--
    GO:0031012extracellular matrix IEA--


    CRISPLD2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CRISPLD2


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

    CRISPLD2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR014044 CAP_domain
     IPR004043 LCCL
     IPR001283 Allrgn_V5/Tpx1
     IPR018244 Allrgn_V5/Tpx1_CS

    Graphical View of Domain Structure for InterPro Entry Q9H0B8

    ProtoNet protein and cluster: Q9H0B8

    1 Blocks protein family: IPB001283 Allergen V5/Tpx-1 related

    UniProtKB/Swiss-Prot: CRLD2_HUMAN, Q9H0B8
    Similarity: Belongs to the CRISP family
    Similarity: Contains 2 LCCL domains


    (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

    Function Summary:

         UniProtKB/Swiss-Prot: CRLD2_HUMAN, Q9H0B8
    Function: Promotes matrix assembly (By similarity)

    miRNA
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    hsa-miR-376b hsa-miR-4288 hsa-let-7a-2* hsa-miR-632 hsa-miR-548g hsa-miR-629* hsa-let-7g* hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidCRISPLD2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CRISPLD2 (see all 7)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRISPLD2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005539glycosaminoglycan binding ----
    GO:0008201heparin binding IEA--


    CRISPLD2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Crispld2tm1Lex for CRISPLD2
         1 MGI phenotypic allele for Crispld2 (no phenotypes)

    CRISPLD2 for phenotypes           About GeneDecksing


    (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 CRISPLD2

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

    1 Interacting protein for CRISPLD2 (ENSP000002624244) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IQCB1ENSP000003115054STRING: ENSP00000311505
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030198extracellular matrix organization IEA--


    CRISPLD2 for ontologies           About GeneDecksing



    (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 CRISPLD2
    Search CenterWatch for drugs/clinical trials and news about CRISPLD2 / CRLD2 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 CRISPLD2 gene: 
    NM_031476.3  

    Unigene Cluster for CRISPLD2:

    Cysteine-rich secretory protein LCCL domain containing 2
    Hs.513779  [show with all ESTs]
    Unigene Representative Sequence: NM_031476
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262424(uc010vog.1 uc010voh.1) ENST00000566151 ENST00000567845
    ENST00000566431 ENST00000565561(uc002fik.4) ENST00000564567(uc002fin.4)
    ENST00000569090(uc002fil.2) ENST00000569262(uc002fim.2) ENST00000563066
    ENST00000566789 ENST00000566165

    miRNA
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    8/27 QIAGEN miScript miRNA Assays for microRNAs that regulate CRISPLD2 (see all 27):
    hsa-miR-376b hsa-miR-4288 hsa-let-7a-2* hsa-miR-632 hsa-miR-548g hsa-miR-629* hsa-let-7g* hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidCRISPLD2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CRISPLD2 (see all 7)
    OriGene shRNA RFP: CRISPLD2
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CRISPLD2

    Additional cDNA sequence: 

    AK027395.1 AK056839.1 AK303887.1 AK308396.1 AL136861.1 AY358413.1 AY358790.1 BC007689.2 
    BC018643.2 BC063012.1 

    17 DOTS entries:

    DT.87016965  DT.40231085  DT.100717151  DT.101980538  DT.102842928  DT.120675550  DT.91715453  DT.120675546 
    DT.95142384  DT.102842927  DT.120675573  DT.91693739  DT.92430479  DT.120675552  DT.75156532  DT.91936301 
    DT.95113684 

    24/175 AceView cDNA sequences (see all 175):

    BM746891 BC007689 CR593410 AI470277 CR606278 AA905079 BF222666 BQ003508 
    AI581103 AI888021 BQ003613 BP345108 AI972383 AW074528 BE856161 BU734411 
    CR596827 AA954363 AI811893 AI087167 CA415056 CR591623 BX357067 BQ010162 

    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

    CRISPLD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image

    CRISPLD2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular NodeAtrioventricular Node CellsMyocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ progenitor W10 (Embryonic Progenitor Cell)
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)
    Primordial germ cell-like cells (Reconstitution of mo...)

    See CRISPLD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CRISPLD2

    SOURCE GeneReport for Unigene cluster: Hs.513779
        SABiosciences Custom PCR Arrays for CRISPLD2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRISPLD2

    (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 CRISPLD2 gene from 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CRISPLD21 cysteine-rich secretory protein LCCL domain containing 2 less 72.7(n)
    73.64(a)
      415818  XM_414180.3  XP_414180.2 
    lizard
    (Anolis carolinensis)
    Reptilia CRISPLD26
    --
    70(a)
    1 ↔ 1
    GL343617.1(309789-334172)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005351491 cysteine-rich secretory protein LCCL domain-containing 2-like less 65.57(n)
    63.58(a)
      100535149  XM_003199017.1  XP_003199065.1 


    ENSEMBL Gene Tree for CRISPLD2 (if available)
    TreeFam Gene Tree for CRISPLD2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CRISPLD2 gene
    CLEC18B2  CLEC18C2  PI162  GLIPR12  CRISP22  PI152  CRISP12  CRISPLD12  
    CRISP32  GLIPR1L12  CLEC18A2  GLIPR1L22  R3HDML2  
    4 SIMAP similar genes for CRISPLD2 using alignment to 6 protein entries:     CRLD2_HUMAN (see all proteins):
    PI15    R3HDML    CRISPLD1    CLEC18A

    CRISPLD2 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

    10/2567 NCBI SNPs in CRISPLD2 are shown (see all 2567    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs118604741,2
    C,F,H,--84851590(+) AGTGGC/TTCGAT 1 -- us2k110Minor allele frequency- T:0.13NS EA NA CSA WA 783
    rs1511527181,2
    --84851641(+) CCTCCC/TACCTC 1 -- us2k10--------
    rs1401764821,2
    --84851741(+) CTGAAC/TTCAAG 1 -- us2k10--------
    rs1453208951,2
    --84851786(+) CAGGCA/CTGAGC 1 -- us2k10--------
    rs1877394661,2
    --84851825(+) CTAACA/GCAGAT 1 -- us2k10--------
    rs1165278281,2
    C,F,--84851846(+) CTTGGA/GTTTGT 1 -- us2k11Minor allele frequency- G:0.05WA 118
    rs727995411,2
    C,F,--84851854(+) TGTCTT/GTTGTC 1 -- us2k11Minor allele frequency- G:0.05NA 120
    rs1913830731,2
    --84851872(+) GGACTC/GTTGTT 1 -- us2k10--------
    rs1821417481,2
    --84851958(+) TGGATA/GACTGC 1 -- us2k10--------
    rs1865313131,2
    --84852026(+) AAAGAG/TGAAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CRISPLD2 (84853587 - 84954374 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CRISPLD2: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CRISPLD2
    DNA2.0 Custom Variant and Variant Library Synthesis for CRISPLD2

    (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

    CRISPLD2 for disorders           About GeneDecksing

    OMIM gene information: 612434    OMIM disorders: --

    3 diseases for CRISPLD2:    About MalaCards
    cleft lip/palate    cleft lip    cleft palate

    2 diseases from the University of Copenhagen DISEASES database for CRISPLD2:
    Cleft lip     Cleft palate
    Human Genome Epidemiology (HuGE) Navigator: CRISPLD2 (10 documents)

    Export disorders for CRISPLD2 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 CRISPLD2 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with CRISPLD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (2001)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    5. CRISPLD2: a novel NSCLP candidate gene. (PubMed id 17616516)1, 9 Chiquet B.T....Hecht J.T. (2007)
    6. Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection. (PubMed id 21254358)1 Chiquet B.T....Hecht J.T. (2011)
    7. The CRISPLD2 gene is involved in cleft lip and/or cle ft palate in a Chinese population. (PubMed id 21800413)1 Shen X....Yu M. (2011)
    8. No evidence for a role of CRISPLD2 in non-syndromic c left lip with or without cleft palate in an Italian population. (PubMed id 21244519)1 Girardi A....Scapoli L. (2011)
    9. CRISPLD2 polymorphisms are associated with non-syndro mic cleft lip with or without cleft palate in a northern Chinese population. (PubMed id 20662919)1 Shi J....Cao F. (2010)
    10. Testing reported associations of genetic risk factors for oral clefts in a large Irish study population. (PubMed id 19937600)1 Carter T.C....Mills J.L. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 83716 HGNC: 25248 AceView: DKFZP434B044 Ensembl:ENSG00000103196 euGenes: HUgn83716
    ECgene: CRISPLD2 H-InvDB: CRISPLD2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for CRISPLD2 Pharmacogenomics, SNPs, Pathways

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    Patent Information for CRISPLD2 gene:
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