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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
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Mixed
FANTOM5:Tissue enhanced (skeletal muscle)

Protein evidence

 Evidence at protein level

DATA RELIABILITY

Reliability score

 Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (skeletal muscle)

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 83.38)

Entrez gene

 8214

UniProt

 Q14129 (UniProt - Evidence at protein level)

neXtProt

 NX_Q14129

Antibodypedia

 DGCR6 antibodies

PROTEIN BROWSER
DGCR6-001
DGCR6-002
DGCR6-008

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DGCR6-001
ENSP00000331681
ENST00000331444
Q14129 [Direct mapping]
Protein DGCR6
X5D7D2 [Target identity:100%; Query identity:100%]
DiGeorge syndrome critical region 6 isoform D
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Predicted intracellular proteins
Show all
GO:0003674 [molecular_function]
GO:0005578 [proteinaceous extracellular matrix]
GO:0005634 [nucleus]
GO:0007155 [cell adhesion]
GO:0009887 [organ morphogenesis]
Show all
 220 aa
25 kDa 		No 0
DGCR6-002
ENSP00000402409
ENST00000413981
Q6FGH4 [Direct mapping]
DGCR6 protein; Protein DGCR6
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Predicted intracellular proteins
Show all
 84 aa
9.2 kDa 		No 0
DGCR6-008
ENSP00000476388
ENST00000608842
K7ELY4 [Direct mapping]
Protein DGCR6
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Predicted intracellular proteins
Show all
 144 aa
16.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.