GNAS Chromosome 20

GNAS complex locus

206 variants 206 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

"Granins|G protein subunits alpha, group s"

Locus Type

gene with protein product

Location

20q13.32

Ensembl

ENSG00000087460

Associated Conditions (32)

GNAS-related disorder

Pseudohypoparathyroidism

Pseudopseudohypoparathyroidism

Pseudohypoparathyroidism type I A

Inborn genetic diseases

PSEUDOHYPOPARATHYROIDISM

TYPE IA

WITH TESTOTOXICOSIS

8 conditions

Pseudohypoparathyroidism type 1B

Progressive osseous heteroplasia

Pseudohypoparathyroidism type 1C

Albright hereditary osteodystrophy

pseudohypoparathyroidism

pseudopseudohypoparathyroidism

acrodysostosis and osteoma cutis

Malignant tumor of esophagus

Familial cancer of breast

McCune-Albright syndrome

Intellectual disability

+12 more conditions

Key Variants

RS111796234

Conflicting classifications of pathogenicity

Health Risk

RS1135401777

Conflicting classifications of pathogenicity

Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism, Pseudohypoparathyroidism

Health Risk

RS11554274

Conflicting classifications of pathogenicity

Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A

Health Risk

RS1272546759

Conflicting classifications of pathogenicity

Pseudopseudohypoparathyroidism, Pseudopseudohypoparathyroidism

Health Risk

RS137854535

Conflicting classifications of pathogenicity

Pseudopseudohypoparathyroidism, Inborn genetic diseases, Pseudohypoparathyroidism type I A

Health Risk

RS137854537

Conflicting classifications of pathogenicity

PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS

Health Risk

RS1446835451

Conflicting classifications of pathogenicity

Health Risk

RS146581290

Conflicting classifications of pathogenicity

Health Risk

RS1555889031

Conflicting classifications of pathogenicity

Health Risk

RS1569027992

Conflicting classifications of pathogenicity

8 conditions, 8 conditions

Health Risk

RS1600976255

Conflicting classifications of pathogenicity

Pseudohypoparathyroidism, Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type 1B

Health Risk

RS199499878

Conflicting classifications of pathogenicity

Health Risk

All Variants (206)

RSID	Category	Clinical Significance	Conditions
RS2146300461	Health Risk	Pathogenic	Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146304864	Health Risk	Pathogenic	Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146305299	Health Risk	Pathogenic	Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146305350	Health Risk	Pathogenic	—
RS2146305803	Health Risk	Pathogenic	Pseudohypoparathyroidism, Pseudohypoparathyroidism
RS2146305978	Health Risk	Pathogenic	Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146306279	Health Risk	Pathogenic	—
RS2146306658	Health Risk	Pathogenic	Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2516794817	Health Risk	Pathogenic	—
RS2516795334	Health Risk	Pathogenic	—
RS2516798313	Health Risk	Pathogenic	GNAS-related disorder, GNAS-related disorder
RS2516902375	Health Risk	Pathogenic	—
RS2517085308	Health Risk	Pathogenic	—
RS2517132560	Health Risk	Pathogenic	—
RS2517134050	Health Risk	Pathogenic	Pseudohypoparathyroidism type 1C, Pseudohypoparathyroidism type 1C
RS2517135415	Health Risk	Pathogenic	—
RS2517219435	Health Risk	Pathogenic	—
RS2517226100	Health Risk	Pathogenic	—
RS2517248473	Health Risk	Pathogenic	—
RS2517258594	Health Risk	Pathogenic	—
RS2517260777	Health Risk	Pathogenic	—
RS2517269281	Health Risk	Pathogenic	—
RS2517296110	Health Risk	Pathogenic	GNAS-related disorder, GNAS-related disorder
RS2517296553	Health Risk	Pathogenic	Pseudopseudohypoparathyroidism, GNAS-related disorder, Pseudopseudohypoparathyroidism
RS2517297405	Health Risk	Pathogenic	—
RS372290095	Health Risk	Pathogenic	Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS397514457	Health Risk	Pathogenic	Pseudohypoparathyroidism type 1C, Pseudohypoparathyroidism type 1C
RS6026588	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS774895847	Health Risk	Pathogenic	Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS797045046	Health Risk	Pathogenic	Pseudopseudohypoparathyroidism, Pseudohypoparathyroidism, Inborn genetic diseases
RS797045203	Health Risk	Pathogenic	—
RS878871097	Health Risk	Pathogenic	—
RS886039383	Health Risk	Pathogenic	—
RS886039677	Health Risk	Pathogenic	—
RS1085307719	Health Risk	Pathogenic/Likely pathogenic	Disorders of GNAS Inactivation, Disorders of GNAS Inactivation
RS1131691999	Health Risk	Pathogenic/Likely pathogenic	Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS121913495	Health Risk	Pathogenic/Likely pathogenic	McCune-Albright syndrome, Sex cord-stromal tumor, Pituitary adenoma 3
RS137854539	Health Risk	Pathogenic/Likely pathogenic	Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism, Pseudohypoparathyroidism
RS1601162438	Health Risk	Pathogenic/Likely pathogenic	Pseudohypoparathyroidism, Pseudohypoparathyroidism type I A, 8 conditions
RS2089380075	Health Risk	Pathogenic/Likely pathogenic	—
RS2090976265	Health Risk	Pathogenic/Likely pathogenic	—
RS2146178601	Health Risk	Pathogenic/Likely pathogenic	—
RS2146178784	Health Risk	Pathogenic/Likely pathogenic	Pseudohypoparathyroidism type I A, Inborn genetic diseases, Pseudopseudohypoparathyroidism
RS2146178875	Health Risk	Pathogenic/Likely pathogenic	—
RS2146209821	Health Risk	Pathogenic/Likely pathogenic	—
RS2146211217	Health Risk	Pathogenic/Likely pathogenic	Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS2146285582	Health Risk	Pathogenic/Likely pathogenic	Pseudohypoparathyroidism type I A, GNAS-related disorder, Pseudohypoparathyroidism type I A
RS2146299968	Health Risk	Pathogenic/Likely pathogenic	Pseudohypoparathyroidism type 1C, Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type 1C
RS2146305127	Health Risk	Pathogenic/Likely pathogenic	Pseudopseudohypoparathyroidism, Pseudohypoparathyroidism type I A, Pseudopseudohypoparathyroidism
RS2146306727	Health Risk	Pathogenic/Likely pathogenic	Inborn genetic diseases, Inborn genetic diseases

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