G2Cdb::Gene report

Gene id
G00001473
Gene symbol
GNAS (HGNC)
Species
Homo sapiens
Description
GNAS complex locus
Orthologue
G00000224 (Mus musculus)

Databases (8)

Curated Gene
OTTHUMG00000033069 (Vega human gene)
Gene
ENSG00000087460 (Ensembl human gene)
2778 (Entrez Gene)
24 (G2Cdb plasticity & disease)
GNAS (GeneCards)
Literature
139320 (OMIM)
Marker Symbol
HGNC:4392 (HGNC)
Protein Sequence
Q5JWF2 (UniProt)

Synonyms (5)

  • GNASXL
  • GPSA
  • NESP
  • NESP55
  • SCG6

Diseases (31)

Disease Nervous effect Mutations Found Literature Mutations Type Genetic association?
D00000293: Albright hereditary osteodystrophy Y Y (1505964) Deletion (D) Y
D00000144: Pseudohypoparathyroidism type 1a N Y (8557265) Deletion (D) Y
D00000144: Pseudohypoparathyroidism type 1a N Y (8809352) Single nucleotide polymorphism (SNP) Y
D00000152: Testotoxicosis N Y (8809352) Single nucleotide polymorphism (SNP) Y
D00000143: Pseudohypoparathyroidism N Y (9876352) Deletion (D) Y
D00000143: Pseudohypoparathyroidism N Y (9876352) Microinsertion (MI) Y
D00000143: Pseudohypoparathyroidism N Y (9876352) Microinsertion (MI) Y
D00000144: Pseudohypoparathyroidism type 1a N Y (10094437) Deletion (D) Y
D00000231: Essential hypertension N Y (10406816) Single nucleotide polymorphism (SNP) Y
D00000293: Albright hereditary osteodystrophy Y Y (10487696) Deletion (D) Y
D00000260: Fibrous dysplasia N Y (10646121) Unknown (?) Y
D00000145: Pseudohypoparathyroidism type 1b N Y (11029463) Deletion (D) Y
D00000112: Platelike osteoma cutis N Y (11092389) Deletion (D) Y
D00000264: Progressive osseous heteroplasia N Y (11092390) Nonsense (No) Y
D00000144: Pseudohypoparathyroidism type 1a N Y (11095461) Deletion (D) Y
D00000147: Acromegaly N Y (11158006) No mutation found (N) N
D00000261: Mazabraud syndrome N Y (11241472) No mutation found (N) N
D00000293: Albright hereditary osteodystrophy Y Y (11412411) Single nucleotide polymorphism (SNP) Y
D00000131: Enhanced trauma-related bleeding tendency N Y (11583302) Insertion (I) Y
D00000131: Enhanced trauma-related bleeding tendency N Y (11583302) Single nucleotide polymorphism (SNP) Y
D00000293: Albright hereditary osteodystrophy Y Y (11600516) Microinsertion (MI) Y
D00000293: Albright hereditary osteodystrophy Y Y (11600516) Insertion (I) Y
D00000293: Albright hereditary osteodystrophy Y Y (11600516) Deletion (D) Y
D00000293: Albright hereditary osteodystrophy Y Y (11600516) Splice site mutation (SpS) Y
D00000264: Progressive osseous heteroplasia N Y (11784876) Unknown (?) Y
D00000144: Pseudohypoparathyroidism type 1a N Y (11788646) Microinsertion (MI) Y
D00000144: Pseudohypoparathyroidism type 1a N Y (11788646) Unknown (?) Y
D00000146: Pseudohypoparathyroidism type 1c N Y (11788646) Microinsertion (MI) Y
D00000146: Pseudohypoparathyroidism type 1c N Y (11788646) Unknown (?) Y
D00000144: Pseudohypoparathyroidism type 1a N Y (11926205) Microinsertion (MI) Y
D00000144: Pseudohypoparathyroidism type 1a N Y (11926205) Deletion (D) Y
D00000144: Pseudohypoparathyroidism type 1a N Y (11926205) Insertion (I) Y
D00000294: McCune-Albright syndrome N Y (12199346) Microinsertion (MI) Y
D00000149: Cushing's syndrome (ACTH-independent) N Y (12373631) No mutation found (N) N
D00000293: Albright hereditary osteodystrophy Y Y (12407707) Deletion (D) Y
D00000293: Albright hereditary osteodystrophy Y Y (12621129) Single nucleotide insertion (SNI) Y
D00000293: Albright hereditary osteodystrophy Y Y (12621129) Deletion (D) Y
D00000293: Albright hereditary osteodystrophy Y Y (12621129) Single nucleotide polymorphism (SNP) Y
D00000293: Albright hereditary osteodystrophy Y Y (12621129) Single nucleotide deletion (SND) Y
D00000293: Albright hereditary osteodystrophy Y Y (12621129) Microinsertion (MI) Y
D00000293: Albright hereditary osteodystrophy Y Y (12621129) Nonsense (No) Y
D00000293: Albright hereditary osteodystrophy Y Y (12656668) Single nucleotide polymorphism (SNP) Y
D00000148: Cushing's syndrome N Y (12727968) Microinsertion (MI) Y
D00000295: McCune-Albright syndrome with precocious puberty N Y (12729407) Microinsertion (MI) Y
D00000083: Thyroid carcinoma in McCune-Albright syndrome N Y (12970318) Unknown (?) Y
D00000264: Progressive osseous heteroplasia N Y (14723729) Microinsertion (MI) Y
D00000294: McCune-Albright syndrome N Y (15126527) Microinsertion (MI) Y
D00000151: Premature thelarche N Y (15289771) Microinsertion (MI) Y
D00000214: Autonomic nervous system activity Y Y (15479166) Single nucleotide polymorphism (SNP) Y
D00000153: Obesity N Y (15531240) Single nucleotide polymorphism (SNP) N
D00000062: Transitional cell carcinoma of the bladder N Y (15824158) Single nucleotide polymorphism (SNP) Y
D00000232: Hypertension N Y (15894831) Single nucleotide polymorphism (SNP) Y
D00000139: Diabetes mellitus N Y (15894831) Single nucleotide polymorphism (SNP) N
D00000153: Obesity N Y (15917856) Polymorphism (P) Y
D00000022: Colorectal cancer N Y (16033819) Single nucleotide polymorphism (SNP) Y
D00000293: Albright hereditary osteodystrophy Y Y (16116826) Nonsense (No) Y
D00000143: Pseudohypoparathyroidism N Y (16116826) Nonsense (No) Y
D00000320: Athletic performance N Y (16210433) Single nucleotide polymorphism (SNP) Y
D00000167: Schizophrenia (deficit) Y Y (16406317) Single nucleotide polymorphism (SNP) Y
D00000058: Clear renal cell carcinoma N Y (16467086) Single nucleotide polymorphism (SNP) Y
D00000088: B-cell chronic lymphocytic leukaemia N Y (17020971) Single nucleotide polymorphism (SNP) Y
D00000150: Polycystic ovary syndrome N Y (17062894) Single nucleotide polymorphism (SNP) N
D00000107: Invasive breast carcinoma N Y (17186357) Single nucleotide polymorphism (SNP) Y

References

Literature (252)

Pubmed - human_disease

Pubmed - other

Gene lists (8)

Gene List Source Species Name Description Gene count
L00000009 G2C Homo sapiens Human PSD Human orthologues of mouse PSD adapted from Collins et al (2006) 1080
L00000015 G2C Homo sapiens Human NRC Human orthologues of mouse NRC adapted from Collins et al (2006) 186
L00000016 G2C Homo sapiens Human PSP Human orthologues of mouse PSP adapted from Collins et al (2006) 1121
L00000033 G2C Homo sapiens Pocklington H2 Human orthologues of cluster 2 (mouse) from Pocklington et al (2006) 13
L00000059 G2C Homo sapiens BAYES-COLLINS-HUMAN-PSD-CONSENSUS Human cortex PSD consensus 748
L00000061 G2C Homo sapiens BAYES-COLLINS-MOUSE-PSD-CONSENSUS Mouse cortex PSD consensus (ortho) 984
L00000069 G2C Homo sapiens BAYES-COLLINS-HUMAN-PSD-FULL Human cortex biopsy PSD full list 1461
L00000071 G2C Homo sapiens BAYES-COLLINS-MOUSE-PSD-FULL Mouse cortex PSD full list (ortho) 1556
© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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