Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

CRELD1 Gene

protein-coding   GIFtS: 53
GCID: GC03P009975

cysteine-rich with EGF-like domains 1

(Previous name: atrioventricular septal defect 2 )
(Previous symbol: AVSD2)
 Explore 7 diseases affiliated with
CRELD1 via our new
 Human Malady Compendium 
Biological research products
for CRELD1
    

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

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

Entrez Gene summary for CRELD1:
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)

Gene Wiki entry for CRELD1


(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_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CRELD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: CREL1_HUMAN, Q96HD1 (See protein sequence)
Recommended Name: Cysteine-rich with EGF-like domain protein 1 precursor  
Size: 420 amino acids; 45440 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96HD1

  • CRELD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000380355   ENSP00000373322   ENSP00000393643   ENSP00000321856   ENSP00000411021  
     ENSP00000406556  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CRELD1
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: CRELD1
    OriGene Protein Over-expression Lysate (see all 4): CRELD1
    OriGene Custom Protein Services for CRELD1 
    GenScript Custom Purified and Recombinant Proteins Services for CRELD1
    Novus Biologicals CRELD1 Protein
    Novus Biologicals CRELD1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CRELD1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    CRELD1 for ontologies           About GeneDecksing



    CRELD1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for CRELD1
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CRELD1 
    GenScript Custom Superior Antibodies Services for CRELD1
    Novus Biologicals CRELD1 Antibodies
    Search for Antibodies for CRELD1 at Abcam  
    Uscn Antibodies for CRELD1
    Search ThermoFisher Antibodies for CRELD1

    Assay Products for CRELD1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CRELD1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CRELD1


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

    CRELD1 for domains           About GeneDecksing

    5/9 InterPro domains/families (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 families:
    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


    (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
    Products:
        
    miRTarBase miRNAs that target CRELD1:
    hsa-mir-346 (MIRT004230)

    OriGene 3'-UTR Clone (see all 3): CRELD1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRELD1
    8/13 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CRELD1 (see all 7)
    OriGene shRNA RFP: CRELD1
    OriGene siRNA: CRELD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CRELD1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CRELD1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CRELD1 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CRELD1 (see all 3)
    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CRELD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRELD1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CRELD1
    Search LifeMap BioReagents cell lines for CRELD1

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRELD1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--


    CRELD1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Creld1tm1Lex for CRELD1
         1 MGI phenotypic allele for Creld1 (no phenotypes)

    CRELD1 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 CRELD1

    5/13 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 (GO ID links to tree view):    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 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 CRELD1
    Search CenterWatch for drugs/clinical trials and news about CRELD1 / CREL1 

    (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 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
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397170 ENST00000383811(uc003buh.3 uc003buf.3 uc003bug.3)
    ENST00000452070 ENST00000470289 ENST00000326434 ENST00000414117 ENST00000465716
    ENST00000491527 ENST00000489674 ENST00000467713 ENST00000435417 ENST00000482691


    miRNA
    Products:
         
    OriGene 3'-UTR Clone (see all 3): CRELD1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRELD1
    8/13 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CRELD1 (see all 7)
    OriGene shRNA RFP: CRELD1
    OriGene siRNA: CRELD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CRELD1
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CRELD1 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CRELD1 (see all 3)
    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
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CRELD1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CRELD1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CRELD1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CRELD1

    Additional cDNA 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.95229944  DT.95229946 
    DT.99927881 

    24/237 AceView cDNA sequences (see all 237):

    CR595434 AA401860 AA251006 AI475525 AA251576 AI351724 AA938143 AA976203 
    CR619189 CD108915 CF529420 CA411668 AA588312 CR617554 BQ268337 CB853410 
    BF346732 BM710526 AA832062 AA043375 AA411182 BQ188909 AA424398 AI351726 

    GeneLoc Exon Structure

    5/10 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™, 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

    CRELD1 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

    CRELD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Mature follicles (In-vitro growth and ...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CRELD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CRELD1

    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

        SABiosciences Custom PCR Arrays for CRELD1
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CRELD1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CRELD1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CRELD1
    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CRELD1 gene from 6/19 species (see all 19)    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_003642002.1  XP_003642050.1 
    lizard
    (Anolis carolinensis)
    Reptilia CRELD16
    --
    56(a)
    1 ↔ 1
    2(191470416-191485201)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5697411 cysteine-rich with EGF-like domain protein 1-like 64.98(n)
    61.87(a)
      569741  XM_693146.4  XP_698238.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG113776
    --
    35(a)
    1 → many
    2L(102380-104142)
    worm
    (Caenorhabditis elegans)
    Secernentea F09E8.26
    Protein F09E8.2, isoform a
    35(a)
    1 → many
    IV(13150528-13154424)


    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)
    About This Section
    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, 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

    10/249 NCBI SNPs in CRELD1 are shown (see all 249    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289417801,2
    C,F,pathogenic10769240(+) CCACCG/ACCTGC 6 /H /R mis1 ese31Minor allele frequency- A:0.00NA 4534
    rs289420911,2
    C,F,other10763399(+) GTTATC/TGCTGC 6 R C mis1 ese33Minor allele frequency- T:0.00NA 4554
    rs289420921,2
    C,other10763452(+) TGAGAC/TAGAGG 6 T I mis1 ese33Minor allele frequency- T:0.00NA 4554
    rs1129212551,2
    C,--9910527(+) CCACCG/CCACCC 7 -- int13Minor allele frequency- C:0.12CSA WA NA 240
    rs592112261,2
    C,--9911896(+) TGGGGC/TGGTCG 7 -- ds5001 int12Minor allele frequency- T:0.19WA 120
    rs3883441,2
    C--9913705(-) agcatC/Ttttta 3 -- int12Minor allele frequency- T:0.00MN NA 186
    rs755462401,2
    --9915072(+) TCTATA/GTCCAG 3 -- int11Minor allele frequency- G:0.01WA 118
    rs1115915411,2
    --9915832(+) CTTGCC/GCTCCA 3 -- int12Minor allele frequency- G:0.33CSA 3
    rs117096891,2
    C,H,--9916810(+) tgagcC/Tgagat 3 -- int11Minor allele frequency- T:0.50NA 2
    rs76194101,2
    C,--9917784(+) cccccC/Ttttct 3 -- int1 trp30--------

    HapMap Linkage Disequilibrium report for CRELD1 (9975506 - 9987097 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CRELD1: --
    Human Gene Mutation Database (HGMD): CRELD1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CRELD1 for disorders           About GeneDecksing

    OMIM gene information: 607170   
    OMIM disorders: 606217  
    UniProtKB/Swiss-Prot: CREL1_HUMAN, Q96HD1
  • Defects in CRELD1 may be the cause of susceptibility to atrioventricular septal defect type 2 (AVSD2)
  • [MIM:606217]. AVSD is a spectrum of cardiac malformations that result in a persistent common atrioventricular canal.
    The complete form of AVSD involves underdevelopment of the lower part of the atrial septum and the upper part of the
    ventricular septum. A less severe form, known as partial AVSD or ostium primum atrial septal defect has a deficiency
    of the atrial septum. Complete AVSD are clinically apparent at birth, whereas less severe forms, such as an isolated
    cleft mitral valve or small defects of the atrial or ventricular septa may go undetected

    7 diseases for CRELD1:    About MalaCards
    atrioventricular septal defect    atrioventricular septal defect, partial, with heterotaxy syndrome    atrioventricular septal defect 2    transposition of great arteries
    heterotaxy    down syndrome    malaria

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

    PubMed articles for CRELD1 gene, integrated from 9 sources (see all 26):
    (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. (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. (2003)
    3. Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2). (PubMed id 15857420)1, 2 Zatyka M.... Maher E.R. (2005)
    4. 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)
    5. 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)
    6. 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. (2001)
    7. Detailed mapping of a congenital heart disease gene in chromosome 3p25. (PubMed id 10922384)1, 3 Green E.K....Maher E.R. (2000)
    8. 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. (2008)
    9. Specific association of missense mutations in CRELD1 w ith cardiac atrioventricular septal defects in heterotaxy syndrome. (PubMed id 22740159)1 Zhian S....Maslen C.L. (2012)
    10. A maiden report on CRELD1 single-nucleotide polymorph ism association in congenital heart disease patients of Mysore, South India. (PubMed id 21413875)1 Kusuma L....Ramachandra N.B. (2011)

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

    (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 CRELD1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CRELD1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



    (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),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for CRELD1 (CRELD1)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Recombinant/Natural Proteins for CRELD1 (CRELD1)  
     Browse OriGene Antibodies   OriGene shRNA RFP for CRELD1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CRELD1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CRELD1  
     OriGene Protein Over-expression Lysate for CRELD1   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for CRELD1   OriGene 3'-UTR Clone for CRELD1  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CRELD1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CRELD1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for CRELD1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CRELD1   OriGene Custom Protein Services for CRELD1  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CRELD1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CRELD1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRELD1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CRELD1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CRELD1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CRELD1
     GenScript Custom Purified and Recombinant Proteins Services for CRELD1 GenScript cDNA clones with any tag delivered in your preferred vector for CRELD1
     GenScript Custom Assay Services for CRELD1 GenScript Custom Superior Antibodies Services for CRELD1
     GenScript Custom overexpressing Cell Line Services for CRELD1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in CRELD1 promoter
     Search Chromatin IP Primers for CRELD1
     RT2 qPCR Primer Assay in human, mouse, rat CRELD1
     Search GNC Networks for CRELD1
     SABiosciences Custom PCR Arrays for CRELD1
     Search Tocris compounds for CRELD1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     CRELD1 antibodies
     CRELD1 proteins
     CRELD1 lysates
     Search for Antibodies for CRELD1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for CRELD1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     CRELD1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for CRELD1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRELD1
     SwitchGear 3'UTR luciferase reporter plasmids for CRELD1
     SwitchGear Promoter luciferase reporter plasmids for CRELD1
     Search ThermoFisher Antibodies for CRELD1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRELD1
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    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 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CRELD1 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4