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CRELD1 Gene

protein-coding   GIFtS: 55
GCID: GC03P009975

Cysteine-Rich With EGF-Like Domains 1

(Previous name: atrioventricular septal defect 2)
(Previous symbol: AVSD2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cysteine-Rich With EGF-Like Domains 11 2
AVSD21 2 5
CIRRIN2 3
Atrioventricular Septal Defect 21
Cysteine-Rich With EGF-Like Domain Protein 12

External Ids:    HGNC: 146301   Entrez Gene: 789872   Ensembl: ENSG000001637037   OMIM: 6071705   UniProtKB: Q96HD13   

Export aliases for CRELD1 gene to outside databases

Previous GC identifers: GC03U990184 GC03P009915 GC03P009967 GC03P009951 GC03P009952 GC03P009953 GC03P009913


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CRELD1 Gene:
This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is
characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell
adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing
results in multiple transcript variants.(provided by RefSeq, Apr 2010)

GeneCards Summary for CRELD1 Gene:
CRELD1 (cysteine-rich with EGF-like domains 1) is a protein-coding gene. Diseases associated with CRELD1 include atrioventricular septal defect, and atrioventricular septal defect, partial, with heterotaxy syndrome. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CRELD2.

Gene Wiki entry for CRELD1 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CRELD1 gene promoter:
         AP-1   NRSF form 1   NRSF form 2   Max   CP2   c-Myb   Zic3   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCRELD1 promoter sequence
   Search Chromatin IP Primers for CRELD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CRELD1


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

Entrez Gene cytogenetic band: 3p25.3   Ensembl cytogenetic band:  3p25.3   HGNC cytogenetic band: 3p25.3

CRELD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRELD1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P009975:  view genomic region     (about GC identifiers)

Start:
9,975,506 bp from pter      End:
9,987,097 bp from pter
Size:
11,592 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CREL1_HUMAN, Q96HD1 (See protein sequence)
Recommended Name: Cysteine-rich with EGF-like domain protein 1 precursor  
Size: 420 amino acids; 45440 Da
Secondary accessions: A8MX90 B2RAA9 Q6I9X5 Q8NFT4 Q9Y409
Alternative splicing: 2 isoforms:  Q96HD1-1   Q96HD1-2   

Explore the universe of human proteins at neXtProt for CRELD1: NX_Q96HD1

Explore proteomics data for CRELD1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn79, Asn205

  • See CRELD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001026887.1  NP_001070883.1  NP_056328.2  

    ENSEMBL proteins: 
     ENSP00000380355   ENSP00000373322   ENSP00000393643   ENSP00000321856   ENSP00000411021  
     ENSP00000406556  

    CRELD1 Human Recombinant Protein Products:

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    OriGene MassSpec for CRELD1
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    Novus Biologicals CRELD1 Protein
    Novus Biologicals CRELD1 Lysates
    Sino Biological Recombinant Protein for CRELD1
    Sino Biological Cell Lysate for CRELD1
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    Cloud-Clone Corp. Proteins for CRELD1

    CRELD1 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for CRELD1

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    Cloud-Clone Corp. CLIAs for CRELD1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 9):
     IPR006212 Furin_repeat
     IPR000742 EG-like_dom
     IPR021852 DUF3456
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS

    Graphical View of Domain Structure for InterPro Entry Q96HD1

    ProtoNet protein and cluster: Q96HD1

    2 Blocks protein domains:
    IPB001881 EGF-like calcium-binding
    IPB006212 Furin-like repeat


    UniProtKB/Swiss-Prot: CREL1_HUMAN, Q96HD1
    Similarity: Belongs to the CRELD family
    Similarity: Contains 2 EGF-like domains
    Similarity: Contains 2 FU (furin-like) repeats


    CRELD1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CREL1_HUMAN, Q96HD1
    Induction: Up-regulated by inducers of the unfolded protein response (UPR), including tunicamycin and thapsigargin

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    CRELD1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Creld1 (no phenotypes)

    CRELD1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Creld1tm1Lex for CRELD1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CRELD1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CRELD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CRELD1

    miRNA
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    miRTarBase miRNAs that target CRELD1:
    hsa-mir-26b-5p (MIRT029353), hsa-mir-346 (MIRT004230)

    Block miRNA regulation of human, mouse, rat CRELD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CRELD1 (see all 13):
    hsa-miR-4324 hsa-miR-198 hsa-miR-1301 hsa-miR-103a hsa-miR-544b hsa-miR-885-3p hsa-miR-377 hsa-miR-1207-3p
    SwitchGear 3'UTR luciferase reporter plasmidCRELD1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CRELD1

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    GenScript: all cDNA clones in your preferred vector (see all 3): CRELD1 (NM_015513)
    Sino Biological Human cDNA Clone for CRELD1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CRELD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRELD1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CRELD1
    Browse ESI BIO Cell Lines and PureStem Progenitors for CRELD1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRELD1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CREL1_HUMAN, Q96HD1: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    plasma membrane2
    cytosol1
    endoplasmic reticulum1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    CRELD1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CRELD1
    Interactions:

        Search GeneGlobe Interaction Network for CRELD1

    Selected Interacting proteins for CRELD1 (Q96HD12, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5J2P561342, 3MINT-63897 I2D: score=5 
    COPS6Q7L5N12, 3MINT-65009 I2D: score=5 
    EEF1GP266412, 3MINT-65007 I2D: score=5 
    GDF9O603832, 3MINT-65005 I2D: score=5 
    KAT5Q929932, 3MINT-65010 I2D: score=5 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003197endocardial cushion development TAS18076106
    GO:0003279cardiac septum development TAS18076106

    CRELD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CRELD1 (CREL1)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CRELD1 gene (3 alternative transcripts): 
    NM_001031717.3  NM_001077415.2  NM_015513.4  

    Unigene Cluster for CRELD1:

    Cysteine-rich with EGF-like domains 1
    Hs.9383  [show with all ESTs]
    Unigene Representative Sequence: NM_015513
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397170 ENST00000383811(uc003buh.3 uc003buf.3 uc003bug.3)
    ENST00000452070 ENST00000326434 ENST00000414117 ENST00000465716 ENST00000491527
    ENST00000489674 ENST00000467713 ENST00000435417 ENST00000482691
    miRNA
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    Block miRNA regulation of human, mouse, rat CRELD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CRELD1 (see all 13):
    hsa-miR-4324 hsa-miR-198 hsa-miR-1301 hsa-miR-103a hsa-miR-544b hsa-miR-885-3p hsa-miR-377 hsa-miR-1207-3p
    SwitchGear 3'UTR luciferase reporter plasmidCRELD1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CRELD1
    Predesigned siRNA for gene silencing in human, mouse, rat CRELD1
    Clone
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    OriGene clones in human, mouse for CRELD1 (see all 16)
    OriGene ORF clones in mouse, rat for CRELD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CRELD1 (NM_015513)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CRELD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRELD1
    Primer
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    OriGene qPCR primer pairs and template standards for CRELD1
    OriGene qSTAR qPCR primer pairs in human, mouse for CRELD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CRELD1
      QuantiTect SYBR Green Assays in human, mouse, rat CRELD1
      QuantiFast Probe-based Assays in human, mouse, rat CRELD1

    Additional mRNA sequence: 

    AF452623.1 AK314113.1 AL050275.1 BC008720.2 CR457380.1 

    17 DOTS entries:

    DT.99949919  DT.100841667  DT.100758420  DT.99952817  DT.100828583  DT.317019  DT.100650369  DT.92425182 
    DT.92425183  DT.120895836  DT.120895870  DT.100802756  DT.97825862  DT.95229939  DT.95229946  DT.99927881 
    DT.95229944 

    Selected AceView cDNA sequences (see all 237):

    AI140222 CR595434 BQ188909 CB853410 AI351726 AI475525 BX281592 AA424398 
    CR620158 AW770335 AA976203 AW009121 AA251576 AI333529 AI824391 AW005747 
    CR619189 AW006565 AI862148 AI798586 AA411182 CR617554 CF529420 BC008720 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CRELD1 (see all 10)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b
    SP1:              -                             -                 -                                                                           
    SP2:              -                             -                 -                                               -                           
    SP3:                                            -                 -                                               -                           
    SP4:        -     -                             -                 -                                                                           
    SP5:                                            -                 -                                                                           


    ECgene alternative splicing isoforms for CRELD1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CRELD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CRELD1 Expression
    About this image


    CRELD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)
             Mature follicles
     
     Thyroid (Endocrine System)
    CRELD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CRELD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.9383

    UniProtKB/Swiss-Prot: CREL1_HUMAN, Q96HD1
    Tissue specificity: Highly expressed in fetal lung, liver, kidney, adult heart, brain and skeletal muscle. Weakly
    expressed in placenta, fetal brain, and adult lung, liver, kidney and pancreas

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    QuantiFast Probe-based Assays in human, mouse, rat CRELD1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRELD1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CRELD1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Creld11 , 5 cysteine-rich with EGF-like domains 11, 5 88.97(n)1
    91.43(a)1
      6 (52.77 cM)5
    1715081  NM_133930.11  NP_598691.11 
     1134832975 
    chicken
    (Gallus gallus)
    Aves LOC1008586131 cysteine-rich with EGF-like domain protein 1-like 72.76(n)
    67.04(a)
      100858613  XM_004944619.1  XP_004944676.1 
    lizard
    (Anolis carolinensis)
    Reptilia CRELD16
    cysteine-rich with EGF-like domains 1
    55(a)
    1 ↔ 1
    2(191470343-191486657)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia creld11 cysteine-rich with EGF-like domains 1 64.75(n)
    60.25(a)
      100498303  XM_004914105.1  XP_004914162.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5697411 cysteine-rich with EGF-like domain protein 1-like 65.16(n)
    61.87(a)
      569741  XM_005169105.1  XP_005169162.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG113776
    --
    30(a)
    1 → many
    2L(102380-104142)
    worm
    (Caenorhabditis elegans)
    Secernentea F09E8.26
    Protein F09E8.2, isoform a (F09E8.2) mRNA, complet...
    31(a)
    1 → many
    IV(13150552-13154448) WBGene00008624


    ENSEMBL Gene Tree for CRELD1 (if available)
    TreeFam Gene Tree for CRELD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CRELD1 gene
    CRELD22  
    4 SIMAP similar genes for CRELD1 using alignment to 3 protein entries:     CREL1_HUMAN (see all proteins):
    CRELD2    DKFZp667O055    HMCN2    NELL2

    CRELD1 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CRELD1 (see all 346)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289417801,2,,4
    C,Fpathogenic19914057(+) CCACCG/ACCTGC 6 /H /R mis1 ese31Minor allele frequency- A:0.00NA 4534
    rs289420921,2,,4
    Cother19919925(+) TGAGAC/TAGAGG 6 T I mis1 ese31Minor allele frequency- T:0.00NA 4550
    rs289420911,2,,4
    C,Fother19919978(+) GTTATC/TGCTGC 6 R C mis1 ese31Minor allele frequency- T:0.00NA 4550
    rs3883441,2
    C--9912130(-) agcatC/Ttttta 3 -- int12Minor allele frequency- T:0.00MN NA 186
    rs1431405081,2
    --9912172(+) GTAGTA/GCAGCT 3 -- int10--------
    rs1482428541,2
    --9912247(+) TTGAAC/TGTATT 3 -- int10--------
    rs1824100821,2
    --9912333(+) CAGGAA/GTTTGA 3 -- int10--------
    rs1871115511,2
    --9912598(+) AAAATC/GGGGAT 3 -- int10--------
    rs1424623951,2
    C--9912874(+) TAAGAC/TATCAA 3 -- int10--------
    rs1916709581,2
    C--9912909(+) ATGTGC/TGTGTG 3 -- int10--------

    HapMap Linkage Disequilibrium report for CRELD1 (9975506 - 9987097 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CRELD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834615CNV Loss17160897

    Human Gene Mutation Database (HGMD): CRELD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CRELD1
    DNA2.0 Custom Variant and Variant Library Synthesis for CRELD1

    (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.)
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    OMIM gene information: 607170   
    OMIM disorders: 606217  
    UniProtKB/Swiss-Prot: CREL1_HUMAN, Q96HD1
  • Atrioventricular septal defect 2 (AVSD2) [MIM:606217]: A congenital heart malformation characterized by a
    common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves
    underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve
    itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by
    separate atrioventricular valvar orifices despite a common junction. Note=Disease susceptibility is associated
    with variations affecting the gene represented in this entry

  • 13 diseases for CRELD1:    
    About MalaCards
    atrioventricular septal defect    atrioventricular septal defect, partial, with heterotaxy syndrome    atrioventricular septal defect 2    cleft mitral valve
    complete atrioventricular canal - left heart obstruction    complete atrioventricular canal - fallot tetralogy    partial atrioventricular canal    complete atrioventricular canal - ventricle hypoplasia
    transposition of the great arteries    heterotaxy    down syndrome    multiple myeloma
    myeloma

    2 diseases from the University of Copenhagen DISEASES database for CRELD1:
    Atrioventricular septal defect     Down syndrome

    CRELD1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CRELD1
    Human Genome Epidemiology (HuGE) Navigator: CRELD1 (3 documents)

    Export disorders for CRELD1 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)
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    PubMed articles for CRELD1 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with CRELD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins. (PubMed id 12137942)1, 2, 3 Rupp P.A....Maslen C.L. (Gene 2002)
    2. Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. (PubMed id 12632326)1, 2, 9 Robinson S.W.... Maslen C.L. (Am. J. Hum. Genet. 2003)
    3. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    4. Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2). (PubMed id 15857420)1, 2 Zatyka M.... Maher E.R. (Clin. Genet. 2005)
    5. 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. (Genome Res. 2004)
    6. 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. (Genome Res. 2003)
    7. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    8. Detailed mapping of a congenital heart disease gene in chromosome 3p25. (PubMed id 10922384)1, 3 Green E.K....Maher E.R. (J. Med. Genet. 2000)
    9. Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. (PubMed id 18076106)1, 9 Posch M.G....Berger F. (Am. J. Med. Genet. A 2008)
    10. Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect. (PubMed id 22987595)1 Ghosh P....Dey S.K. (Am. J. Med. Genet. A 2012)

    (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)
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    Entrez Gene: 78987 HGNC: 14630 AceView: CRELD1 Ensembl:ENSG00000163703 euGenes: HUgn78987
    ECgene: CRELD1 H-InvDB: CRELD1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CRELD1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/gtr/tests/207618/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CRELD1 gene:
    Search GeneIP for patents involving CRELD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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