Gene Gene information from NCBI Gene database.
Entrez ID 9993
Gene name DiGeorge syndrome critical region gene 2
Gene symbol DGCR2
Synonyms (NCBI Gene)
DGS-CIDDLANSEZ-12
Chromosome 22
Chromosome location 22q11.21
Summary 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
miRNA miRNA information provided by mirtarbase database.
293
miRTarBase ID miRNA Experiments Reference
MIRT004236 hsa-miR-346 Microarray 16822819
MIRT046368 hsa-miR-23b-3p CLASH 23622248
MIRT042326 hsa-miR-484 CLASH 23622248
MIRT933669 hsa-miR-1299 CLIP-seq
MIRT933670 hsa-miR-199a-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 33961781, 34819669
GO:0007155 Process Cell adhesion IEA
GO:0009887 Process Animal organ morphogenesis TAS 7655455
GO:0016020 Component Membrane IBA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600594 2845 ENSG00000070413
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P98153
Protein name Integral membrane protein DGCR2/IDD
Protein function Putative adhesion receptor, that could be involved in cell-cell or cell-matrix interactions required for normal cell differentiation and migration.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00057 Ldl_recept_a 28 66 Low-density lipoprotein receptor domain class A Repeat
PF00059 Lectin_C 134 267 Lectin C-type domain Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in brain, heart, lung and fetal kidney. Low levels in liver and adult kidney.
Sequence
MVPKADSGAFLLLFLLVLTVTEPLRPELRCNPGQFACRSGTIQCIPLPWQCDGWATCEDE
SDEANC
PEVTGEVRPHHGKEAVDPRQGRARGGDPSHFHAVNVAQPVRFSSFLGKCPTGWH
HYEGTASCYRVYLSGENYWDAAQTCQRLNGSLATFSTDQELRFVLAQEWDQPERSFGWKD
QRKLWVGYQYVITGRNRSLEGRWEVAFKGSSEVFLPPDPIFASAMSENDNVFCAQLQCFH
FPTLRHHDLHSWHAESCYEKSSFLCKR
SQTCVDIKDNVVDEGFYFTPKGDDPCLSCTCHG
GEPEMCVAALCERPQGCQQYRKDPKECCKFMCLDPDGNSLFDSMASGMRLVVSCISSFLI
LSLLLFMVHRLRQRRRERIESLIGANLHHFNLGRRIPGFDYGPDGFGTGLTPLHLSDDGE
GGTFHFHDPPPPYTAYKYPDIGQPDDPPPPYEASIHPDSVFYDPADDDAFEPVEVSLPAP
GDGGSEGALLRRLEQPLPTAGASLADLEDSADSSSALLVPPDPAQSGSTPAAEALPGGGR
HSRSSLNTVV
Sequence length 550
Interactions View interactions