DGCR2 Gene (Protein Coding)

DiGeorge Syndrome Critical Region Gene 2

GC22M019037
GIFtS:
39
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 migratio... See more...

Aliases for DGCR2 Gene

Aliases for DGCR2 Gene

  • DiGeorge Syndrome Critical Region Gene 2 2 3 5
  • IDD 2 3 4
  • Integral Membrane Protein DGCR2/IDD 3 4
  • KIAA0163 2 4
  • SEZ-12 2 3
  • DGS-C 2 3
  • LAN 2 3
  • Integral Membrane Protein Deleted In DiGeorge Syndrome 3
  • DiGeorge Syndrome Critical Region Protein 2 3
  • Integral Membrane Protein DGCR2 2
  • DGCR2 5

External Ids for DGCR2 Gene

Previous GeneCards Identifiers for DGCR2 Gene

  • GC22M015964
  • GC22M017398
  • GC22M019023
  • 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 Digeorge Syndrome/Velocardiofacial Syndrome Complex 2. Gene Ontology (GO) annotations related to this gene include carbohydrate binding.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for DGCR2 Gene

Genomics for DGCR2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DGCR2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DGCR2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DGCR2

Top Transcription factor binding sites by QIAGEN in the DGCR2 gene promoter:
  • AML1a
  • CREB
  • deltaCREB
  • Egr-4
  • HTF
  • IRF-1
  • NCX
  • NF-1
  • NF-1/L

Genomic Locations for DGCR2 Gene

Genomic Locations for DGCR2 Gene
chr22:19,036,282-19,122,454
(GRCh38/hg38)
Size:
86,173 bases
Orientation:
Minus strand
chr22:19,023,795-19,109,967
(GRCh37/hg19)
Size:
86,173 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for DGCR2 Gene

Proteins for DGCR2 Gene

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  • 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

Protein Expression for DGCR2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DGCR2 Gene

  • Glycosylation at Asn149 and Asn196
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for DGCR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DGCR2 Gene

Domains & Families for DGCR2 Gene

Gene Families for DGCR2 Gene

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

Protein Domains for DGCR2 Gene

InterPro:
Blocks:
  • Low density lipoprotein-receptor, class A
  • von Willebrand factor, type C
ProtoNet:

Suggested Antigen Peptide Sequences for DGCR2 Gene

GenScript: Design optimal peptide antigens:
  • DiGeorge syndrome critical region protein 2 (B5TY34_HUMAN)
  • cDNA FLJ50536, highly similar to Integral membrane protein DGCR2/IDD (B7Z3C4_HUMAN)
  • cDNA FLJ50402, highly similar to Integral membrane protein DGCR2/IDD (B7Z935_HUMAN)
  • Integral membrane protein DGCR2/IDD (IDD_HUMAN)
  • DiGeorge syndrome critical region gene 2 (Q8IWC8_HUMAN)
genes like me logo Genes that share domains with DGCR2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DGCR2 Gene

Function for DGCR2 Gene

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  2. CRISPR
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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:0005515 protein binding IEA --
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

  • Taconic Biosciences Mouse Models for DGCR2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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

COMPARTMENTS
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
mitochondrion 1
nucleus 1
golgi apparatus 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for DGCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA,IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DGCR2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DGCR2 Gene

Pathways & Interactions for DGCR2 Gene

PathCards logo

SuperPathways for DGCR2 Gene

No Data Available

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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for DGCR2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DGCR2 Gene

4 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DGCR2

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: - - -
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

Expression for DGCR2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DGCR2 Gene

mRNA expression in normal human tissues for DGCR2 Gene
mRNA expression by BioGPS for DGCR2 GenemRNA expression by GTEx 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DGCR2

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.

Evidence on tissue expression from TISSUES for DGCR2 Gene

  • Nervous system(5)
  • Bone marrow(4.1)
  • Pancreas(3)
  • Lung(2.9)
  • Skin(2.2)
  • Kidney(2)
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
Chimpanzee
(Pan troglodytes)
 Mammalia DGCR2 30 31
  • 99.7 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DGCR2 30 31
  • 88.62 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Dgcr2 30 17 31
  • 87.86 (n)
 OneToMany
Gm20518 31
  • 87 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia LOC100910275 30
  • 87.61 (n)
Cow
(Bos Taurus)
 Mammalia DGCR2 30 31
  • 85.66 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia DGCR2 31
  • 77 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DGCR2 31
  • 77 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves DGCR2 30 31
  • 75.06 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DGCR2 31
  • 77 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia dgcr2 30
  • 69.1 (n)
Str.8178 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.1676 30
Zebrafish
(Danio rerio)
 Actinopterygii dgcr2 30 31
  • 67.72 (n)
 OneToOne
Species where no ortholog for DGCR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for DGCR2: view image

Paralogs for DGCR2 Gene

(1) SIMAP similar genes for DGCR2 Gene using alignment to 4 proteins:

  • IDD_HUMAN
  • B5TY34_HUMAN
  • B7Z3C4_HUMAN
  • Q8IWC8_HUMAN
genes like me logo Genes that share paralogs with DGCR2: view

No data available for Paralogs for DGCR2 Gene

Variants for DGCR2 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DGCR2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
730502 Benign: not provided 19,122,176(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
733935 Benign: not provided 19,057,110(-) A/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
739670 Likely Benign: not provided 19,041,877(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
740399 Likely Benign: not provided 19,038,985(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
773616 Benign: not provided 19,041,137(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for DGCR2 Gene

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

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

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)

Additional Variant Information for DGCR2 Gene

Human Gene Mutation Database (HGMD)
DGCR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DGCR2

SNP Genotyping and Copy Number Assay Products

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

Disorders for DGCR2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DGCR2 Gene - From: OMIM, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DGCR2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DGCR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  2. 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
  3. 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 41
  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 41
  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 41

ExternalLinks

View latest publications for DGCR2 gene in Mastermind

Products for DGCR2 Gene

  • Signalway ELISA kits for DGCR2

Sources for DGCR2 Gene