DGCR6

GENERAL INFORMATION

? »

Gene name

DGCR6

Gene description

DiGeorge syndrome critical region gene 6

Protein class

Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Tissue enhanced (skeletal muscle)
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Respiratory epithelia, stomach, rectum and uterine cervix gland showed strong cytoplasmic staining along with distinct positivity in extracellular material. Intestinal tract and thyroid exhibited moderate positivity. Gall bladder, renal tubules and hepatocytes displayed moderate cytoplasmic and nuclear staining. Remaining normal tissues were weakly stained or negative.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA047905
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
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

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Tissue enhanced (skeletal muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

? »

Gene name

DGCR6

Synonyms

Description

DiGeorge syndrome critical region gene 6 (HGNC Symbol)

Entrez gene summary

DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008]

Chromosome

22

Cytoband

q11.21

Chromosome location (bp)

18906028 - 18914238

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000183628 (version 78.38)

Entrez gene

8214

UniProt

Q14129 (UniProt - Evidence at protein level)

neXtProt

NX_Q14129

Antibodypedia

DGCR6 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000331444
 
ENST00000413981
 
ENST00000608842
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DGCR6-001 ENSP00000331681
ENST00000331444
Q14129
Show all »
Show » Show » 220 25 No 0
DGCR6-002 ENSP00000402409
ENST00000413981
Q6FGH4
Show all »
Show » 84 9.2 No 0
DGCR6-008 ENSP00000476388
ENST00000608842
K7ELY4
Show all »
Show » 144 16.3 No 0