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FLASH GENE
Symbol DGCR2 contributors: npt - updated : 24-04-2003
HGNC name DiGeorge syndrome critical region gene 2
HGNC id 2845
Location 22q11.21      Physical location : 19.023.794 - 19.109.967
Synonym name
  • integral membrane protein, commonly deleted in DiGeorge syndrome (see BFAR, HIRA)
  • integral membrane protein DGCR2/IDD
  • Synonym symbol(s) IDD, LAN, KIAA0163, SEZ-12, DGSC, DKFZp686I1730
    DNA
    TYPE functioning gene
    STRUCTURE 86.00 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence   other
    text structure 80 SNP in the locus
    MAPPING cloned Y linked N status provisional
    Physical map
    CECR2 22q11.2 cat eye syndrome chromosome region, candidate 2 SLC25A18 22q11.2 solute carrier family 25, (mitochondrial carrier), member 18 ATP6V1E1 22q11.21 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1 BCL2L13 22q11.2 BCL2-like 13 (apoptosis facilitator) BID 22q11.21 BH3 interacting domain death agonist FLJ40542 22q11.21 hypothetical protein FLJ40542 LOC388843 22 LOC388843 KIAA0819 22q11.21 KIAA0819 protein MICAL3 22q11.21 flavoprotein oxidoreductase MICAL3 PEX26 22q11.21 peroxisome biogenesis factor 26 TUBA8 22q11 tubulin, alpha 8 USP18 22q11.21 ubiquitin specific protease 18 LOC391291 22 LOC391291 LOC388844 22 hypothetical gene supported by AK097777; AK128837; AK129567; BC040613 LOC220522 22q11.21 similar to Gamma-glutamyltranspeptidase 1 precursor (Gamma-glutamyltransferase 1) (CD224 antigen) LOC391292 22 similar to immunoglobulin superfamily, member 3; immunoglobin superfamily, member 3 LOC386610 22q11.21 E2F transcription factor 6 pseudogene LOC388845 22 LOC388845 LOC388846 22 similar to hypothetical protein DKFZp434P211.1 - human (fragments) LOC388847 22 similar to breakpoint cluster region isoform 1 LOC391293 22 LOC391293 LOC388848 22 LOC388848 DGCR6 22q11.21 DiGeorge syndrome critical region gene 6 PRODH 22q11.21 proline dehydrogenase (oxidase) 1 DGCR5 22q11 DiGeorge syndrome critical region gene 5 (non-coding) LOC391294 22 similar to POM121 membrane glycoprotein-like 1 LOC343830 22q11.21 similar to carbonic anhydrase XV DGCR2 22q11.21 DiGeorge syndrome critical region gene 2 LOC391295 22 similar to serine/threonine kinase FKSG81; spermiogenesis associated 4 STK22B 22q11.2 serine/threonine kinase 22B (spermiogenesis associated) DGCR14 22q11.21 DiGeorge syndrome critical region gene 14 GSCL 22q11.21 goosecoid-like SLC25A1 22q11.21 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 CLTCL1 22q11.21 clathrin, heavy polypeptide-like 1 HIRA 22q11.21-q11.23 HIR histone cell cycle regulation defective homolog A (S. cerevisiae) MRPL40 22q11.2 mitochondrial ribosomal protein L40 LOC128977 22q11.21 hypothetical protein LOC128977 UFD1L 22q11.21 ubiquitin fusion degradation 1-like CDC45L 22q11.2 CDC45 cell division cycle 45-like (S. cerevisiae) CLDN5 22q11.21 claudin 5 (transmembrane protein deleted in velocardiofacial syndrome) PNUTL1 22q11.21 peanut-like 1 (Drosophila) GP1BB 22q11.21 glycoprotein Ib (platelet), beta polypeptide LOC391296 22 similar to contains similarity to cell wall-plasma membrane linker protein~gene_id:MKA23.5 TBX1 22q11.21 T-box 1 GNB1L 22q11.2 guanine nucleotide binding protein (G protein), beta polypeptide 1-like FLJ21125 22q11.21 hypothetical protein FLJ21125 TXNRD2 22q11.21 thioredoxin reductase 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 4504 60 550 - -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   predominantly
    Digestiveliver   lowly
    Nervousbrain   predominantly
    Respiratorylung   predominantly
    Urinarykidney   lowly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text kidney predominantly
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a ldl-receptor class a domain
  • a c-type lectin family domain
  • a vwfc domain
  • HOMOLOGY
    interspecies ortholog to murine Dgcr2
    Homologene
    FAMILY
    CATEGORY adhesion , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type I membrane protein
    basic FUNCTION
  • putative adhesion receptor protein which could play a role in neural crest cells migration (a process which has been proposed to be altered in DiGeorge syndrome)
  • involved in cell-cell or cell-matrix interactions required for normal cell differentiation and migration
  • CELLULAR PROCESS cell migration & motility
    PHYSIOLOGICAL PROCESS development
    text histogenesis and organogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in DiGeorge syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS