GSC2

GENERAL INFORMATION

? »

Gene name

GSC2

Gene description

Goosecoid homeobox 2

Protein class

Predicted intracellular proteins
Transcription factors

Predicted localization

Intracellular

Number of transcripts

1
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Tissue enriched (testis)
GTEx:Tissue enriched (testis)

Protein evidence

Evidence at transcript level

Protein localization

Nuclear expression in testis.

ANTIBODY RELIABILITY

? »

Data reliability
description

Antibody staining not consistent with RNA expression data. Presumed off target binding observed and disregarded.

Data reliability

Uncertain based on 1 antibody.
HPA043011
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 enriched (testis)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (testis)

Organ

Expression



GENE INFORMATION

? »

Gene name

GSC2 (HGNC Symbol)

Synonyms

GSCL

Description

Goosecoid homeobox 2 (HGNC Symbol)

Entrez gene summary

Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq, Jul 2008]

Chromosome

22

Cytoband

q11.21

Chromosome location (bp)

19148576 - 19150283

Protein evidence

Evidence at transcript level (all genes)

Ensembl

ENSG00000063515 (version 78.38)

Entrez gene

2928

UniProt

O15499 (UniProt - Evidence at transcript level)

neXtProt

NX_O15499

Antibodypedia

GSC2 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000086933
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GSC2-001 ENSP00000086933
ENST00000086933
O15499
Show all »
Show » Show » 205 21.5 No 0