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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/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 Hypoparathyroidism-Deafness-Renal Disease 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

Additional gene information for DGCR2 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H019107 1.6 Ensembl ENCODE dbSUPER 42.2 +12.1 12062 4.9 HNRNPUL1 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B FEZF1 YY1 ZNF766 DGCR2 UFD1 DGCR11 ESS2 RPL7AP70 DGCR8 E2F6P1 GSC2 TBX1 PIR39211
GH22H019084 1.6 FANTOM5 Ensembl ENCODE dbSUPER 38.2 +36.4 36415 2.5 HDGF CTCF KLF1 TBL1XR1 TSC22D4 EBF1 RAD21 FOSL1 ZFHX2 ATF7 DGCR2 DGCR8 LINC01311 RPL8P5 DGCR11 GC22P019215 PIR39211
GH22H019119 1.3 ENCODE dbSUPER 42.6 +0.9 856 3.4 HDGF PKNOX1 ARNT ARID4B SIN3A YY1 ZNF766 CBX5 ZNF143 SP3 DGCR2 DGCR11 TRMT2A ENSG00000223461
GH22H019097 0.8 ENCODE dbSUPER 53.1 +23.6 23575 1.8 HDGF SCRT1 ZNF316 TARDBP SCRT2 EMSY DGCR2 ENSG00000223461 TSSK1A TSSK2 DGCR11 PIR39211 GC22P019215
GH22H019069 0.7 dbSUPER 53.3 +52.2 52178 1.2 FOXA2 ZNF146 REST HDAC8 FOXA1 JUND ZNF692 POLR2A ATF3 GLIS1 DGCR2 ENSG00000223461 TSSK1A TSSK2 ESS2 DGCR5 GC22M019063 GC22P019215
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Genomic Locations for DGCR2 Gene

Genomic Locations for DGCR2 Gene
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

Post-translational modifications for DGCR2 Gene

  • Glycosylation at isoforms=2, 3149 and posLast=196196
  • Modification sites at PhosphoSitePlus

Other Protein References for DGCR2 Gene

No data available for DME Specific Peptides for DGCR2 Gene

Domains & Families for DGCR2 Gene

Gene Families for DGCR2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for DGCR2 Gene

Gene Ontology (GO) - Molecular Function for DGCR2 Gene

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

Human Phenotype Ontology for DGCR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DGCR2 Gene

MGI Knock Outs for DGCR2:

Animal Model Products

CRISPR Products

miRNA for DGCR2 Gene

miRTarBase miRNAs that target DGCR2

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DGCR2 gene
Compartment Confidence
plasma membrane 3
extracellular 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DGCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DGCR2: view

Pathways & Interactions for DGCR2 Gene

SuperPathways for DGCR2 Gene

No Data Available

Interacting Proteins for DGCR2 Gene

Gene Ontology (GO) - Biological Process for DGCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0009887 animal 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 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:

CRISPR Products

Clone 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: - - -
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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for DGCR2 Gene

Protein tissue co-expression partners for DGCR2 Gene

NURSA nuclear receptor signaling pathways regulating expression of DGCR2 Gene:


SOURCE GeneReport for Unigene cluster for DGCR2 Gene:


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.

Evidence on tissue expression from TISSUES for DGCR2 Gene

  • Nervous system(5)
  • Bone marrow(4.1)
  • Lung(2.9)
  • Pancreas(2.8)
genes like me logo Genes that share expression patterns with DGCR2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia DGCR2 33 34
  • 99.7 (n)
(Canis familiaris)
Mammalia DGCR2 33 34
  • 88.62 (n)
(Mus musculus)
Mammalia Dgcr2 33 16 34
  • 87.86 (n)
Gm20518 34
  • 87 (a)
(Rattus norvegicus)
Mammalia LOC100910275 33
  • 87.61 (n)
(Bos Taurus)
Mammalia DGCR2 33 34
  • 85.66 (n)
(Monodelphis domestica)
Mammalia DGCR2 34
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia DGCR2 34
  • 77 (a)
(Gallus gallus)
Aves DGCR2 33 34
  • 75.06 (n)
(Anolis carolinensis)
Reptilia DGCR2 34
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dgcr2 33
  • 69.1 (n)
Str.8178 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.1676 33
(Danio rerio)
Actinopterygii dgcr2 33 34
  • 67.72 (n)
Species where no ortholog for DGCR2 was found in the sources mined by GeneCards:
  • 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
rs1000012699 -- 19,093,964(+) TTGCA(A/G)TGCTG intron-variant
rs1000057929 -- 19,047,835(+) AATGA(A/C)AACTG intron-variant, nc-transcript-variant
rs1000069189 -- 19,097,796(+) CAATG(A/C)GAAGA intron-variant
rs1000078650 -- 19,098,159(+) CACAG(C/T)TGGGC intron-variant
rs1000087302 -- 19,121,148(+) AGAAG(A/C)TGGCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv953022 CNV deletion 24416366
nsv834122 CNV loss 17160897
nsv828932 CNV loss 20364138
nsv588216 CNV gain 21841781
nsv588213 CNV gain 21841781
nsv516997 CNV gain+loss 19592680
nsv1136654 CNV deletion 24896259
nsv1123575 CNV deletion 24896259
nsv1067175 CNV loss 25217958
nsv1056141 CNV gain 25217958
esv3647259 CNV loss 21293372
esv3575418 CNV gain 25503493
esv3557923 CNV deletion 23714750
esv3447073 CNV insertion 20981092
esv2758824 CNV gain+loss 17122850
esv2751935 CNV loss 17911159
esv2678705 CNV deletion 23128226
dgv824e214 CNV gain 21293372
dgv7973n54 CNV gain 21841781
dgv7969n54 CNV gain 21841781
dgv543n27 CNV gain 19166990
dgv4474n100 CNV gain 25217958
dgv4473n100 CNV gain+loss 25217958
dgv4472n100 CNV loss 25217958
dgv4469n100 CNV gain 25217958
dgv281e215 CNV deletion 23714750
dgv174e55 CNV gain 17911159
dgv173e55 CNV gain 17911159
dgv1286e212 CNV loss 25503493
dgv1285e212 CNV loss 25503493
dgv1284e212 CNV gain 25503493

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
digeorge syndrome
  • digeorge sequence
hypoparathyroidism-deafness-renal disease syndrome
  • hypoparathyroidism, sensorineural deafness, and renal dysplasia
velocardiofacial syndrome
  • cayler cardiofacial syndrome
- 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 … Burn J (Human molecular genetics 1995) 2 3 4 60
  2. No association between genetic variants at the DGCR2 gene and schizophrenia in a German sample. (PMID: 19668116) Georgi A … Jamra RA (Psychiatric genetics 2009) 3 45 60
  3. Discovery of novel human transcript variants by analysis of intronic single-block EST with polyadenylation site. (PMID: 19906316) Wang P … Ma D (BMC genomics 2009) 3 4 60
  4. Replication study for associations between polymorphisms in the CLDN5 and DGCR2 genes in the 22q11 deletion syndrome region and schizophrenia. (PMID: 18797402) Ishiguro H … Arinami T (Psychiatric genetics 2008) 3 45 60
  5. A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia. (PMID: 16783572) Shifman S … Darvasi A (Human genetics 2006) 3 45 60

Products for DGCR2 Gene

Sources for DGCR2 Gene

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