GNAS

GENERAL INFORMATION

? »

Gene name

GNAS

Gene description

GNAS complex locus

Protein class

Cancer-related genes
Disease related genes
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

21
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Selective cytoplasmic and extracellular expression in intestinal goblet cells and pancreatic islet cells. The annotation is based on antibodies recognizing different splice variants.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 4 antibodies.
HPA018122 , HPA027478 , HPA028386 , CAB010337
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

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

? »

Gene name

GNAS (HGNC Symbol)

Synonyms

GNAS1, GNASXL, GPSA, NESP, NESP55, SCG6

Description

GNAS complex locus (HGNC Symbol)

Entrez gene summary

This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]

Chromosome

20

Cytoband

q13.32

Chromosome location (bp)

58839718 - 58911192

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000087460 (version 78.38)

Entrez gene

2778

UniProt

O95467 (UniProt - Evidence at protein level), P63092 (UniProt - Evidence at protein level), P84996 (UniProt - Evidence at protein level), Q5JWF2 (UniProt - Evidence at protein level)

neXtProt

NX_O95467, NX_P63092, NX_P84996, NX_Q5JWF2

Antibodypedia

GNAS antibodies


PROTEIN BROWSER

? »
 
 
 « 
 
ENST00000265620
 
ENST00000306090
 
ENST00000306120
 
ENST00000313949
 
ENST00000338783
 
ENST00000349036
 
ENST00000354359
 
ENST00000371075
 
ENST00000371081
 
ENST00000371085
 
ENST00000371095
 
ENST00000371098
 
ENST00000371099
 
ENST00000371100
 
ENST00000371102
 
ENST00000419558
 
ENST00000423897
 
ENST00000450130
 
ENST00000453292
 
ENST00000603546
 
ENST00000604005
 
 » 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GNAS-001 ENSP00000360141
ENST00000371100
Q5JWF2
Show all »
Show » Show » 1037 111 No 0
GNAS-002 ENSP00000323571
ENST00000313949
O95467
Show all »
Show » Show » 245 28 Yes 0
GNAS-009 ENSP00000360143
ENST00000371102
Q5JWF2
Show all »
Show » Show » 1023 109.6 No 0
GNAS-014 ENSP00000360115
ENST00000371075
O95467
Show all »
Show » Show » 245 28 Yes 0
GNAS-015 ENSP00000360126
ENST00000371085
P63092
Show all »
Show » Show » 394 45.7 No 0
GNAS-017 ENSP00000360136
ENST00000371095
P63092
Show all »
Show » Show » 380 44.3 No 0
GNAS-018 ENSP00000346328
ENST00000354359
P63092
Show all »
Show » Show » 395 45.8 No 0
GNAS-021 ENSP00000345971
ENST00000338783
A2A2R6
Show all »
Show » Show » 61 7 No 0
GNAS-022 ENSP00000392000
ENST00000453292
A2A2S1
Show all »
Show » 166 19 No 0
GNAS-023 ENSP00000416234
ENST00000419558
Show » 113 12.7 No 0
GNAS-025 ENSP00000360139
ENST00000371098
O95467
Show all »
Show » Show » 245 28 Yes 0
GNAS-035 ENSP00000265620
ENST00000265620
P63092
Show all »
Show » Show » 379 44.2 No 0
GNAS-036 ENSP00000412424
ENST00000450130
Show » Show » 199 22.7 No 0
GNAS-037 ENSP00000265621
ENST00000349036
Q5JWE9
Show all »
Show » Show » 193 21.9 No 0
GNAS-038 ENSP00000360122
ENST00000371081
Q5JWD1
Show all »
Show » Show » 87 9.6 No 0
GNAS-049 ENSP00000412356
ENST00000423897
Show » Show » 93 10.4 No 0
GNAS-050 ENSP00000302237
ENST00000306120
P84996
Show all »
Show » Show » 625 67.8 No 0
GNAS-058 ENSP00000360140
ENST00000371099
X6R7U9
Show all »
Show » 720 74.3 No 0
GNAS-063 ENSP00000474802
ENST00000603546
S4R3V9
Show all »
Show » Show » 120 13.6 No 0
GNAS-071 ENSP00000474219
ENST00000604005
S4R3E3
Show all »
Show » Show » 160 18.3 No 0
GNAS-201 ENSP00000304472
ENST00000306090
Show » Show » 158 18.7 No 0