GNAS

GENE INFORMATION

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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 (Chromosome progress)

Cytoband

q13.32

Chromosome location (bp)

57414773 - 57486247

Ensembl

ENSG00000087460 (version 73.37)

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 VIEW

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GNAS-001
 
GNAS-002
 
GNAS-009
 
GNAS-014
 
GNAS-015
 
GNAS-017
 
GNAS-018
 
GNAS-021
 
GNAS-022
 
GNAS-023
 
GNAS-025
 
GNAS-035
 
GNAS-036
 
GNAS-037
 
GNAS-038
 
GNAS-049
 
GNAS-050
 
GNAS-058
 
GNAS-062
 
GNAS-063
 
GNAS-064
 
GNAS-065
 
GNAS-066
 
GNAS-067
 
GNAS-068
 
GNAS-069
 
GNAS-070
 
GNAS-071
 
GNAS-072
 
GNAS-073
 
GNAS-201
 
 » 
 
 
 
 

PROTEIN INFORMATION

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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
Q5JWF2
Show all »
Show » Show » 720 74.3 No 0
GNAS-062 ENSP00000474262
ENST00000603023
Show » Show » 160 18.7 No 0
GNAS-063 ENSP00000474802
ENST00000603546
Show » Show » 120 13.6 No 0
GNAS-064 ENSP00000474810
ENST00000603291
Show » 36 3.9 No 0
GNAS-065 ENSP00000474031
ENST00000605439
Show » 28 3 No 0
GNAS-066 ENSP00000474666
ENST00000605724
Show » Show » 165 19.2 No 0
GNAS-067 ENSP00000474006
ENST00000605560
Show » Show » 180 20.8 No 0
GNAS-068 ENSP00000474966
ENST00000603560
Show » Show » 71 8 No 0
GNAS-069 ENSP00000473886
ENST00000605324
Show » Show » 86 9.4 No 0
GNAS-070 ENSP00000474259
ENST00000605058
Show » Show » 82 9 No 0
GNAS-071 ENSP00000474219
ENST00000604005
Show » Show » 160 18.3 No 0
GNAS-072 ENSP00000473809
ENST00000605722
Show » Show » 118 13.3 No 0
GNAS-073 ENSP00000474950
ENST00000603534
Show » 28 3 No 0
GNAS-201 ENSP00000304472
ENST00000306090
P63092
Show all »
Show » Show » 380 44.3 No 0