Human Gene DGCR2 (ENST00000263196.12) from GENCODE V44
Description: Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA. (from RefSeq NM_005137) RefSeq Summary (NM_005137): 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]. Gencode Transcript: ENST00000263196.12 Gencode Gene: ENSG00000070413.20 Transcript (Including UTRs) Position: hg38 chr22:19,036,286-19,122,412 Size: 86,127 Total Exon Count: 10 Strand: - Coding Region Position: hg38 chr22:19,038,865-19,122,206 Size: 83,342 Coding Exon Count: 10
ID:IDD_HUMAN DESCRIPTION: RecName: Full=Integral membrane protein DGCR2/IDD; Flags: Precursor; FUNCTION: Putative adhesion receptor, that could be involved in cell-cell or cell-matrix interactions required for normal cell differentiation and migration. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. TISSUE SPECIFICITY: Predominantly expressed in brain, heart, lung and fetal kidney. Low levels in liver and adult kidney. SIMILARITY: Contains 1 C-type lectin domain. SIMILARITY: Contains 1 LDL-receptor class A domain. SIMILARITY: Contains 1 VWFC domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00057 - Low-density lipoprotein receptor domain class A
ModBase Predicted Comparative 3D Structure on P98153
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
