DGCR14

GENERAL INFORMATION

? »

Gene name

DGCR14

Gene description

DiGeorge syndrome critical region gene 14

Protein class

Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

1
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Mixed
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Nuclear expression in all cells at variable levels.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA001221 , HPA001222
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

Urinary bladder

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

? »

Gene name

DGCR14 (HGNC Symbol)

Synonyms

DGCR13, DGS-H, DGSI, ES2, Es2el

Description

DiGeorge syndrome critical region gene 14 (HGNC Symbol)

Entrez gene summary

This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. [provided by RefSeq, Jul 2008]

Chromosome

22

Cytoband

q11.21

Chromosome location (bp)

19130279 - 19144684

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000100056 (version 78.38)

Entrez gene

8220

UniProt

Q96DF8 (UniProt - Evidence at protein level)

neXtProt

NX_Q96DF8

Antibodypedia

DGCR14 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000252137
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DGCR14-001 ENSP00000252137
ENST00000252137
Q96DF8
Show all »
Show » Show » 476 52.6 No 0