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

CRELD2 Gene

protein-coding   GIFtS: 57
GCID: GC22P050311

Cysteine-Rich With EGF-Like Domains 2

  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)
About This Section

Aliases
Cysteine-Rich With EGF-Like Domains 21 2
Cysteine-Rich With EGF-Like Domain Protein 22

External Ids:    HGNC: 281501   Entrez Gene: 791742   Ensembl: ENSG000001841647   OMIM: 6071715   UniProtKB: Q6UXH13   

Export aliases for CRELD2 gene to outside databases

Previous GC identifers: GC22P048634 GC22P048698 GC22P033259


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

GeneCards Summary for CRELD2 Gene: 
CRELD2 (cysteine-rich with EGF-like domains 2) is a protein-coding gene. Diseases associated with CRELD2 include schmid metaphyseal chondrodysplasia, and multiple epiphyseal dysplasia. GO annotations related to this gene include protein binding and calcium ion binding. An important paralog of this gene is CRELD1.

UniProtKB/Swiss-Prot: CREL2_HUMAN, Q6UXH1
Function: May regulate transport of alpha4-beta2 neuronal acetylcholine receptor

Gene Wiki entry for CRELD2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CRELD2 gene promoter:
         COUP-TF1   AML1a   COUP   Pax-2   HNF-4alpha2   Pax-2a   Tal-1beta   HNF-4alpha1   COUP-TF   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCRELD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CRELD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRELD2


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

Entrez Gene cytogenetic band: 22q13.33   Ensembl cytogenetic band:  22q13.33   HGNC cytogenetic band: 22q13.33

CRELD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRELD2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P050311:  view genomic region     (about GC identifiers)

Start:
50,311,815 bp from pter      End:
50,321,188 bp from pter
Size:
9,374 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CREL2_HUMAN, Q6UXH1 (See protein sequence)
Recommended Name: Cysteine-rich with EGF-like domain protein 2 precursor  
Size: 353 amino acids; 38192 Da
Subunit: May interact with CHRNA4
Subcellular location: Secreted (Potential). Endoplasmic reticulum
Developmental stage: Expressed in all fetal tissues tested
Secondary accessions: A5GZA2 A5GZA3 A5GZA4 A5GZA5 A5GZA6 Q4W0V0 Q86UC0 Q9BU47
Alternative splicing: 6 isoforms:  Q6UXH1-1   Q6UXH1-2   Q6UXH1-3   Q6UXH1-4   Q6UXH1-5   Q6UXH1-6   (Minor isoform)

Explore the universe of human proteins at neXtProt for CRELD2: NX_Q6UXH1

Explore proteomics data for CRELD2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6UXH1

  • CRELD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CRELD2 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001128573.1  NP_001271246.1  NP_001271247.1  NP_077300.3  

    ENSEMBL proteins: 
     ENSP00000387769   ENSP00000383938   ENSP00000332223   ENSP00000386034   ENSP00000384111  

    Human Recombinant Protein Products for CRELD2: 
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    OriGene Protein Over-expression Lysate for CRELD2
    OriGene MassSpec for CRELD2 
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    GenScript Custom Purified and Recombinant Proteins Services for CRELD2
    Novus Biologicals CRELD2 Proteins
    Novus Biologicals CRELD2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CRELD2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--

    CRELD2 for ontologies           About GeneDecksing



    CRELD2 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for CRELD2 
    Cloud-Clone Corp. CLIAs for CRELD2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/9 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 Q6UXH1

    ProtoNet protein and cluster: Q6UXH1

    2 Blocks protein domains:
    IPB006210 Type I EGF
    IPB006212 Furin-like repeat


    UniProtKB/Swiss-Prot: CREL2_HUMAN, Q6UXH1
    Similarity: Belongs to the CRELD family
    Similarity: Contains 2 EGF-like domains
    Similarity: Contains 2 FU (furin-like) repeats


    CRELD2 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CREL2_HUMAN, Q6UXH1
    Function: May regulate transport of alpha4-beta2 neuronal acetylcholine receptor

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI--
         
    CRELD2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CRELD2:
     Synthetic lethal with Ras 

         1 MGI phenotypic allele for Creld2 (no phenotypes)

    CRELD2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Creld2tm1Lex for CRELD2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CRELD2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CRELD2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CRELD2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CRELD2 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRELD2
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate CRELD2:
    hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-32* hsa-miR-556-3p hsa-miR-1301
    SwitchGear 3'UTR luciferase reporter plasmidCRELD2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CRELD2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CRELD2

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of CRELD2

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector (see all 2): CRELD2 (NM_001135101)
    Browse Sino Biological Human cDNA Clones
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                         Customized lentivirus expression plasmids for stable overexpression of CRELD2 

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    Search LifeMap BioReagents cell lines for CRELD2
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRELD2


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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CRELD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/45 Interacting proteins for CRELD2 (Q6UXH11, 2, 3 ENSP000003839384) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2BP678702, 3MINT-8253033 I2D: score=1 
    ENSG00000206406P678702, 3MINT-8253033 I2D: score=1 
    ENSG00000224398P678702, 3MINT-8253033 I2D: score=1 
    ENSG00000224774P678702, 3MINT-8253033 I2D: score=1 
    ENSG00000228875P678702, 3MINT-8253033 I2D: score=1 
    About this table

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

    Browse Tocris compounds for CRELD2 (CREL2)

    Search CenterWatch for drugs/clinical trials and news about CRELD2 / CREL2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CRELD2 gene (4 alternative transcripts): 
    NM_001135101.2  NM_001284317.1  NM_001284318.1  NM_024324.4  

    Unigene Cluster for CRELD2:

    Cysteine-rich with EGF-like domains 2
    Hs.211282  [show with all ESTs]
    Unigene Representative Sequence: AL713788
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000450207 ENST00000404488(uc003biz.3 uc010hal.2 uc003bja.2 uc010hak.2 uc010ham.2)
    ENST00000328268 ENST00000483652(uc010haj.3) ENST00000407217 ENST00000403427
    ENST00000482956 ENST00000498354 ENST00000462253 ENST00000444954 ENST00000487969

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRELD2
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate CRELD2:
    hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-32* hsa-miR-556-3p hsa-miR-1301
    SwitchGear 3'UTR luciferase reporter plasmidCRELD2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CRELD2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CRELD2
    Clone
    Products:
         
    OriGene clones in human, mouse for CRELD2 (see all 14)
    OriGene ORF clones in mouse, rat for CRELD2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CRELD2 (NM_001135101)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CRELD2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRELD2
    Sirion Biotech Customized lentivirus for stable overexpression of CRELD2 
                         Customized lentivirus expression plasmids for stable overexpression of CRELD2 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CRELD2
    OriGene qSTAR qPCR primer pairs in human, mouse for CRELD2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CRELD2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CRELD2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CRELD2

    Additional mRNA sequence: 

    AJ968414.1 AK126178.1 AK225930.1 AK308535.1 AK308692.1 AL713788.1 AY358355.1 BC002894.1 
    BC050675.1 DQ470676.1 DQ470677.1 DQ470678.1 DQ470679.1 DQ470680.1 

    9 DOTS entries:

    DT.314504  DT.92432847  DT.95224402  DT.99931665  DT.100776550  DT.100029921  DT.95250183  DT.100672886 
    DT.100776552 

    24/212 AceView cDNA sequences (see all 212):

    BU162890 BU179567 BQ774567 BU931834 BE796766 BU625731 BE019348 N28564 
    BU859284 BE250199 AK126178 BQ689307 BU180242 CA487845 BF437281 BE382658 
    BU621400 CA436845 AY358355 BE261201 AI264807 BF307702 BG684431 BE297368 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CRELD2 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for CRELD2

    (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

    CRELD2 expression in normal human tissues (normalized intensities)      CRELD2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACGGCTACT
    CRELD2 Expression
    About this image


    CRELD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/16 selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             plasma cells   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             testis ; cells in seminiferus ducts   
     
     Tonsil (Hematopoietic System)    fully expand to see all 2 entries
             tonsil ; non-germinal center cells   

    See CRELD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CRELD2

    SOURCE GeneReport for Unigene cluster: Hs.211282

    UniProtKB/Swiss-Prot: CREL2_HUMAN, Q6UXH1
    Tissue specificity: Ubiquitously expressed

        SABiosciences Custom PCR Arrays for CRELD2
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CRELD2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRELD2

    (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 CRELD2 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Creld21 , 5 cysteine-rich with EGF-like domains 21, 5 78.95(n)1
    76.29(a)1
      15 (44.31 cM)5
    767371  NM_029720.21  NP_083996.11 
     888196465 
    chicken
    (Gallus gallus)
    Aves CRELD21 cysteine-rich with EGF-like domains 2 62.85(n)
    61.6(a)
      417735  NM_001199497.1  NP_001186426.1 
    lizard
    (Anolis carolinensis)
    Reptilia CRELD26
    cysteine-rich with EGF-like domains 2
    55(a)
    1 ↔ 1
    GL343277.1(235162-255882)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.242892 Xenopus laevis transcribed sequence with weak similarity more 72.01(n)    CB206700.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc663832 hypothetical protein MGC66383 70.62(n)   393495  BC055626.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG113771 CG11377 55.26(n)
    46.54(a)
      33166  NM_134646.3  NP_608490.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F09E8.21 Protein F09E8.2 47.89(n)
    41.22(a)
      178267  NM_070129.4  NP_502530.1 


    ENSEMBL Gene Tree for CRELD2 (if available)
    TreeFam Gene Tree for CRELD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CRELD2 gene
    CRELD12  
    2 SIMAP similar genes for CRELD2 using alignment to 2 protein entries:     CREL2_HUMAN (see all proteins):
    DKFZp667O055    CRELD1

    CRELD2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/343 SNPs in CRELD2 are shown (see all 343)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1483030411,2
    C--50314150(+) TAATTC/GAGGGG 2 -- int10--------
    rs1849657551,2
    --50314218(+) GACCTA/GTCCAG 2 -- int10--------
    rs119129091,2
    C,F,H--50314247(+) ACAGAG/AGTGAC 2 -- int11Minor allele frequency- A:0.06WA 118
    rs96163901,2
    C,F,A,H--50314289(+) AGAGCG/CCAGGG 2 -- int19Minor allele frequency- C:0.21WA NA CSA EA 370
    rs734439741,2
    C,F--50314316(+) GGCTGG/AGCACA 2 -- int15Minor allele frequency- A:0.09WA CSA NA EA 362
    rs72844171,2
    C,F,A,H--50314346(+) GTGCCA/GAGGGA 2 -- int110Minor allele frequency- G:0.44NA WA CSA EA 371
    rs1414527961,2
    C--50314482(+) ACCATC/TAGCCT 2 -- int10--------
    rs1156270221,2
    C,F--50314564(+) CCCCGC/TGCCTG 2 -- int11Minor allele frequency- T:0.23WA 118
    rs1457213151,2
    --50314565(+) CCCGCA/GCCTGA 2 -- int10--------
    rs96163911,2
    C,F,A,H--50314573(+) TGACGC/TGTCAG 2 -- int16Minor allele frequency- T:0.15NA WA CSA EA 364

    HapMap Linkage Disequilibrium report for CRELD2 (50311815 - 50321188 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CRELD2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2724722CNV Deletion23290073
    dgv5050n71CNV Loss21882294
    dgv5049n71CNV Loss21882294
    nsv915495CNV Loss21882294
    nsv915506CNV Loss21882294
    nsv471221CNV Loss18288195
    dgv5046n71CNV Loss21882294
    nsv915508CNV Loss21882294
    dgv5051n71CNV Loss21882294
    nsv915512CNV Gain21882294


    Human Gene Mutation Database (HGMD): CRELD2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CRELD2
    DNA2.0 Custom Variant and Variant Library Synthesis for CRELD2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607171    OMIM disorders: --

    5 diseases for CRELD2:    About MalaCards
    schmid metaphyseal chondrodysplasia    multiple epiphyseal dysplasia    metaphyseal dysplasia    chondrodysplasia
    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for CRELD2:
    Metaphyseal dysplasia     Multiple epiphyseal dysplasia

    CRELD2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CRELD2

    Export disorders for CRELD2 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 CRELD2 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with CRELD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CRELD2: gene mapping, alternate splicing, and comparative genomic identification of the promoter region. (PubMed id 16919896)1, 2, 9 Maslen C.L....Olson S.B. (2006)
    2. The cysteine-rich with EGF-like domains 2 (CRELD2) protein interacts with the large cytoplasmic domain of human neuronal nicotinic acetylcholine receptor alpha4 and beta2 subunits. (PubMed id 16238698)1, 2 Ortiz J.A.... Criado M. (2005)
    3. 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)
    4. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.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. Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins. (PubMed id 12137942)1, 3 Rupp P.A....Maslen C.L. (2002)
    7. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (2013)
    8. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    9. A genome-wide association study of DSM-IV cannabis dep endence. (PubMed id 21668797)4 Agrawal A....Bierut L.J. (2011)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (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: 79174 HGNC: 28150 AceView: MGC11256 Ensembl:ENSG00000184164 euGenes: HUgn79174
    ECgene: CRELD2 H-InvDB: CRELD2

    (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 CRELD2 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 CRELD2 gene:
    Search GeneIP for patents involving CRELD2

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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