DGCR2

GENERAL INFORMATION

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Gene name

DGCR2

Gene description

DiGeorge syndrome critical region gene 2

Protein class

Predicted membrane proteins
Predicted secreted proteins

Predicted localization

Membrane,Secreted

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Granular expression in islets of Langerhans in pancreas.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining not consistent with RNA expression data. Pending external verification.

Data reliability

Uncertain based on 1 antibody.
HPA000873
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

DGCR2 (HGNC Symbol)

Synonyms

DGS-C, IDD, KIAA0163, LAN, SEZ-12

Description

DiGeorge syndrome critical region gene 2 (HGNC Symbol)

Entrez gene 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 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]

Chromosome

22

Cytoband

q11.21

Chromosome location (bp)

19036282 - 19122454

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000070413 (version 78.38)

Entrez gene

9993

UniProt

P98153 (UniProt - Evidence at transcript level)

neXtProt

NX_P98153

Antibodypedia

DGCR2 antibodies


PROTEIN BROWSER

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ENST00000263196
 
ENST00000537045
 
ENST00000545799
 
ENST00000615747
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DGCR2-001 ENSP00000263196
ENST00000263196
P98153
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Show » Show » 550 60.8 Yes 1
DGCR2-201 ENSP00000440062
ENST00000537045
P98153
Show all »
Show » Show » 509 56.3 Yes 1
DGCR2-202 ENSP00000445069
ENST00000545799
B7Z3C4
Show all »
Show » Show » 550 60.9 Yes 1
DGCR2-203 ENSP00000482494
ENST00000615747
Show » Show » 328 36.9 Yes 0