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Aliases for DGCR2 Gene

Aliases for DGCR2 Gene

  • DiGeorge Syndrome Critical Region Gene 2 2 3 5
  • IDD 3 4
  • Integral Membrane Protein Deleted In DiGeorge Syndrome 3
  • DiGeorge Syndrome Critical Region Protein 2 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

Enhancers for DGCR2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DGCR2 on UCSC Golden Path with GeneCards custom track

Promoters for DGCR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DGCR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DGCR2 Gene

19,036,282 bp from pter
19,122,454 bp from pter
86,173 bases
Minus strand

Genomic View for DGCR2 Gene

Genes around DGCR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DGCR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Integral membrane protein DGCR2/IDD
    Protein Accession:
    Secondary Accessions:
    • A6NIB5
    • A8K6K5
    • B5TY34
    • B7Z935

    Protein attributes for DGCR2 Gene

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

    Alternative splice isoforms for DGCR2 Gene


neXtProt entry for DGCR2 Gene

Proteomics data for DGCR2 Gene at MOPED

Post-translational modifications for DGCR2 Gene

  • Glycosylation at Asn 149 and Asn 196
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for DGCR2
  • Santa Cruz Biotechnology (SCBT) Antibodies for DGCR2

No data available for DME Specific Peptides for DGCR2 Gene

Domains & Families for DGCR2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 C-type lectin 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.
genes like me logo Genes that share phenotypes with DGCR2: view

Animal Models for DGCR2 Gene

MGI Knock Outs for DGCR2:

Animal Model Products

  • Taconic Biosciences Mouse Models for DGCR2

miRNA for DGCR2 Gene

miRTarBase miRNAs that target DGCR2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets 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

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

No data available for Gene Ontology (GO) - Cellular Components for DGCR2 Gene

Pathways & Interactions 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)
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 --
genes like me logo Genes that share ontologies with DGCR2: view

No data available for Pathways by source and SIGNOR curated interactions for DGCR2 Gene

Drugs & Compounds for DGCR2 Gene

No Compound Related Data Available

Transcripts for DGCR2 Gene

Unigene Clusters for DGCR2 Gene

DiGeorge syndrome critical region gene 2:
Representative Sequences:

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: - - -
SP11: -
SP12: - -
SP13: - -

ExUns: 14b · 14c · 14d ^ 15a · 15b · 15c ^ 16
SP1: -
SP5: -
SP9: -

Relevant External Links for DGCR2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DGCR2 Gene

mRNA expression in normal human tissues for DGCR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DGCR2 Gene

This gene is overexpressed in Bone (67.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DGCR2 Gene

SOURCE GeneReport for Unigene cluster for DGCR2 Gene Hs.517357

mRNA Expression by UniProt/SwissProt for DGCR2 Gene

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 expression patterns with DGCR2: view

Protein tissue co-expression partners for DGCR2 Gene

Primer 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
(Bos Taurus)
Mammalia DGCR2 35
  • 85.66 (n)
  • 88.69 (a)
DGCR2 36
  • 88 (a)
(Canis familiaris)
Mammalia DGCR2 35
  • 88.62 (n)
  • 91.74 (a)
DGCR2 36
  • 92 (a)
(Mus musculus)
Mammalia Dgcr2 35
  • 87.86 (n)
  • 93.44 (a)
Dgcr2 16
Dgcr2 36
  • 93 (a)
Gm20518 36
  • 87 (a)
(Pan troglodytes)
Mammalia DGCR2 35
  • 99.7 (n)
  • 99.63 (a)
DGCR2 36
  • 100 (a)
(Rattus norvegicus)
Mammalia LOC100910275 35
  • 87.61 (n)
  • 92.53 (a)
(Monodelphis domestica)
Mammalia DGCR2 36
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia DGCR2 36
  • 77 (a)
(Gallus gallus)
Aves DGCR2 35
  • 75.06 (n)
  • 79.44 (a)
DGCR2 36
  • 78 (a)
(Anolis carolinensis)
Reptilia DGCR2 36
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dgcr2 35
  • 69.1 (n)
  • 74.95 (a)
Str.8178 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.1676 35
(Danio rerio)
Actinopterygii dgcr2 35
  • 67.72 (n)
  • 67.46 (a)
dgcr2 36
  • 64 (a)
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

Gene Tree for DGCR2 (if available)
Gene Tree for DGCR2 (if available)

Paralogs for DGCR2 Gene

(1) 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
rs2072123 - 19,039,100(-) GCCTG(C/T)GGAGG nc-transcript-variant, reference, missense
rs6623 -- 19,037,868(+) AGTGG(C/T)GGTGA nc-transcript-variant, utr-variant-3-prime
rs8399 -- 19,037,817(-) GCCCC(G/T)CCTCA nc-transcript-variant, utr-variant-3-prime
rs10160 -- 19,038,512(+) AAGTA(A/G)GCCCA nc-transcript-variant, utr-variant-3-prime
rs2096054 -- 19,108,175(-) AAATC(C/T)TTGCC 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

Variation tolerance for DGCR2 Gene

Residual Variation Intolerance Score: 23.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.82; 73.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DGCR2 Gene

Human Gene Mutation Database (HGMD)

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

Disorders for DGCR2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DGCR2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
digeorge syndrome
  • digeorge sequence
velocardiofacial syndrome
  • cayler cardiofacial syndrome
t cell deficiency
  • t-lymphocyte deficiency
- elite association - COSMIC cancer census association via MalaCards
Search DGCR2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DGCR2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DGCR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  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. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Novel pancreatic beta cell-specific proteins: antibody-based proteomics for identification of new biomarker candidates. (PMID: 22465717) Lindskog C. … Danielsson A. (J Proteomics 2012) 3
  5. Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. (PMID: 23227193) Swaminathan S. … Saykin A.J. (PLoS ONE 2012) 3

Products for DGCR2 Gene

Sources for DGCR2 Gene