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Aliases for DGCR2 Gene

Aliases for DGCR2 Gene

  • DiGeorge Syndrome Critical Region Gene 2 2 3
  • IDD 3 4 6
  • Integral Membrane Protein Deleted In DiGeorge Syndrome 3
  • DiGeorge Syndrome Critical Region Protein 2 3
  • Integral Membrane Protein DGCR2/IDD 3
  • Integral Membrane Protein DGCR2 2
  • KIAA0163 4
  • SEZ-12 3
  • DGS-C 3
  • LAN 3

External Ids for DGCR2 Gene

Previous GeneCards Identifiers for DGCR2 Gene

  • GC22M015964
  • GC22M017398
  • GC22M002645

Summaries for DGCR2 Gene

Entrez Gene Summary for DGCR2 Gene

  • Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel 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. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

GeneCards Summary for DGCR2 Gene

DGCR2 (DiGeorge Syndrome Critical Region Gene 2) is a Protein Coding gene. Diseases associated with DGCR2 include digeorge syndrome and velocardiofacial syndrome. GO annotations related to this gene include carbohydrate binding.

UniProtKB/Swiss-Prot for DGCR2 Gene

  • Putative adhesion receptor, that could be involved in cell-cell or cell-matrix interactions required for normal cell differentiation and migration

Gene Wiki entry for DGCR2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DGCR2 Gene

Genomics for DGCR2 Gene

Regulatory Elements for DGCR2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DGCR2 Gene

Start:
19,036,282 bp from pter
End:
19,122,454 bp from pter
Size:
86,173 bases
Orientation:
Minus strand

Genomic View for DGCR2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DGCR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DGCR2 Gene

Proteins for DGCR2 Gene

  • Protein details for DGCR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98153-IDD_HUMAN
    Recommended name:
    Integral membrane protein DGCR2/IDD
    Protein Accession:
    P98153
    Secondary Accessions:
    • A6NIB5
    • A8K6K5
    • B5TY34
    • B7Z935

    Protein attributes for DGCR2 Gene

    Size:
    550 amino acids
    Molecular mass:
    60811 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DGCR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DGCR2 Gene

Proteomics data for DGCR2 Gene at MOPED

Post-translational modifications for DGCR2 Gene

  • Glycosylation at Asn149 and Asn196
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DGCR2 Gene

Domains for DGCR2 Gene

Graphical View of Domain Structure for InterPro Entry

P98153

UniProtKB/Swiss-Prot:

IDD_HUMAN :
  • P98153
Domain:
  • Contains 1 C-type lectin domain.
  • Contains 1 LDL-receptor class A domain.
  • Contains 1 VWFC domain.
genes like me logo Genes that share domains with DGCR2: view

No data available for Gene Families for DGCR2 Gene

Function for DGCR2 Gene

Molecular function for DGCR2 Gene

UniProtKB/Swiss-Prot Function: Putative adhesion receptor, that could be involved in cell-cell or cell-matrix interactions required for normal cell differentiation and migration

Gene Ontology (GO) - Molecular Function for DGCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with DGCR2: view

Phenotypes for DGCR2 Gene

MGI mutant phenotypes for DGCR2:
inferred from 2 alleles
GenomeRNAi human phenotypes for DGCR2:
genes like me logo Genes that share phenotypes with DGCR2: view

Animal Models for DGCR2 Gene

MGI Knock Outs for DGCR2:

Animal Model Products

CRISPR Products

miRNA for DGCR2 Gene

miRTarBase miRNAs that target DGCR2

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DGCR2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for DGCR2 Gene

Localization for DGCR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DGCR2 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DGCR2 Gene COMPARTMENTS Subcellular localization image for DGCR2 gene
Compartment Confidence
plasma membrane 3
extracellular 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for DGCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DGCR2: view

Pathways for DGCR2 Gene

SuperPathways for DGCR2 Gene

No Data Available

Interacting Proteins for DGCR2 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000263196%0d%0a9606.ENSP00000313199%0d%0a9606.ENSP00000234170%0d%0a9606.ENSP00000447803%0d%0a
Selected Interacting proteins: P98153-IDD_HUMAN ENSP00000263196 for DGCR2 Gene via MINT STRING I2D

Gene Ontology (GO) - Biological Process for DGCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0009887 organ morphogenesis TAS 7655455
GO:0050890 cognition IMP 23227193
genes like me logo Genes that share ontologies with DGCR2: view

No data available for Pathways by source for DGCR2 Gene

Transcripts for DGCR2 Gene

Unigene Clusters for DGCR2 Gene

DiGeorge syndrome critical region gene 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DGCR2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DGCR2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12 ^ 13a · 13b ^ 14a ·
SP1: - - - - - -
SP2: - - - - -
SP3: - -
SP4: - - - - - - -
SP5: - - - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - -
SP7: - -
SP8: - -
SP9: - - -
SP10:
SP11: -
SP12: - -
SP13: - -

ExUns: 14b · 14c · 14d ^ 15a · 15b · 15c ^ 16
SP1: -
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13:

Relevant External Links for DGCR2 Gene

GeneLoc Exon Structure for
DGCR2
ECgene alternative splicing isoforms for
DGCR2

Expression for DGCR2 Gene

mRNA expression in normal human tissues for DGCR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for DGCR2 Gene

SOURCE GeneReport for Unigene cluster for DGCR2 Gene Hs.517357

mRNA Expression by UniProt/SwissProt for DGCR2 Gene

P98153-IDD_HUMAN
Tissue specificity: Predominantly expressed in brain, heart, lung and fetal kidney. Low levels in liver and adult kidney
genes like me logo Genes that share expressions with DGCR2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for DGCR2 Gene

Orthologs for DGCR2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DGCR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DGCR2 35
  • 99.7 (n)
  • 99.63 (a)
DGCR2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DGCR2 35
  • 85.66 (n)
  • 88.69 (a)
DGCR2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DGCR2 35
  • 88.62 (n)
  • 91.74 (a)
DGCR2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dgcr2 35
  • 87.86 (n)
  • 93.44 (a)
Dgcr2 16
Dgcr2 36
  • 93 (a)
OneToMany
Gm20518 36
  • 87 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia DGCR2 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DGCR2 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100910275 35
  • 87.61 (n)
  • 92.53 (a)
chicken
(Gallus gallus)
Aves DGCR2 35
  • 75.06 (n)
  • 79.44 (a)
DGCR2 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DGCR2 36
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1676 35
tropical clawed frog
(Silurana tropicalis)
Amphibia dgcr2 35
  • 69.1 (n)
  • 74.95 (a)
Str.8178 35
zebrafish
(Danio rerio)
Actinopterygii dgcr2 35
  • 67.72 (n)
  • 67.46 (a)
dgcr2 36
  • 64 (a)
OneToOne
Species with no ortholog for DGCR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DGCR2 Gene

ENSEMBL:
Gene Tree for DGCR2 (if available)
TreeFam:
Gene Tree for DGCR2 (if available)

Paralogs for DGCR2 Gene

Selected SIMAP similar genes for DGCR2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with DGCR2: view

No data available for Paralogs for DGCR2 Gene

Variants for DGCR2 Gene

Sequence variations from dbSNP and Humsavar for DGCR2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs6623 -- 19,037,868(+) AGTGG(C/T)GGTGA utr-variant-3-prime, nc-transcript-variant
rs8399 -- 19,037,817(-) GCCCC(G/T)CCTCA utr-variant-3-prime, nc-transcript-variant
rs10160 -- 19,038,512(+) AAGTA(A/G)GCCCA utr-variant-3-prime, nc-transcript-variant
rs361585 -- 19,074,165(+) tcacg(C/T)ctgta intron-variant
rs361955 -- 19,103,298(+) aaaaa(-/A)gttct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DGCR2 Gene

Variant ID Type Subtype PubMed ID
dgv1380e1 CNV Complex 17122850
nsv516997 CNV Gain+Loss 19592680
esv2751935 CNV Loss 17911159
dgv173e55 CNV Gain 17911159
dgv4821n71 CNV Gain 21882294
dgv4822n71 CNV Gain 21882294
dgv4824n71 CNV Gain 21882294
dgv1382e1 CNV Complex 17122850
dgv4828n71 CNV Gain 21882294
dgv4829n71 CNV Gain+Loss 21882294
dgv543n27 CNV Gain 19166990
nsv435744 CNV Deletion 17901297
dgv174e55 CNV Gain 17911159
dgv1383e1 CNV Complex 17122850
nsv914244 CNV Loss 21882294
dgv4836n71 CNV Gain 21882294
nsv914263 CNV Gain 21882294
dgv1384e1 CNV Complex 17122850
dgv1385e1 CNV Complex 17122850
dgv1386e1 CNV Complex 17122850
nsv914268 CNV Gain 21882294
nsv828932 CNV Loss 20364138
nsv834122 CNV Loss 17160897
esv2678705 CNV Deletion 23128226

Relevant External Links for DGCR2 Gene

HapMap Linkage Disequilibrium report
DGCR2
Human Gene Mutation Database (HGMD)
DGCR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DGCR2 Gene

Disorders for DGCR2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for DGCR2 Gene including...

Search for DGCR2 Gene in MalaCards »

(3) University of Copenhagen DISEASES for DGCR2 Gene

Relevant External Links for DGCR2

Genetic Association Database (GAD)
DGCR2
Human Genome Epidemiology (HuGE) Navigator
DGCR2
genes like me logo Genes that share disorders with DGCR2: view

No data available for UniProtKB/Swiss-Prot for DGCR2 Gene

Publications for DGCR2 Gene

  1. Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome. (PMID: 7655455) Wadey R. … Scambler P.J. (Hum. Mol. Genet. 1995) 2 3 4
  2. Cloning of SEZ-12 encoding seizure-related and membrane-bound adhesion protein. (PMID: 8630060) Kajiwara K. … Sugaya E. (Biochem. Biophys. Res. Commun. 1996) 2 3
  3. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8724849) Nagase T. … Nomura N. (DNA Res. 1996) 3 4
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for DGCR2 Gene

Sources for DGCR2 Gene

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