GNAS - GNAS complex locus Gene
Also Known as AHO; GSA; GSP; POH; GPSA; NESP; SCG6; SgVI; GNAS1; PITA3; C20orf45
Species: Homo sapiens
About GNAS
This gene has 77 transcripts (splice variants), 275 orthologues, 15 paralogues and is associated with 186 phenotypes. Ubiquitous expression in thyroid (RPKM 405.2), brain (RPKM 137.2) and 25 other tissues.
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]
GNAS Products (13)
| mRNA | Protein | Name |
|---|---|---|
| NM_000516.7 | NP_000507.1 | protein GNAS isoform GNASL |
| NM_001077488.5 | NP_001070956.1 | protein GNAS isoform f |
| NM_001077489.4 | NP_001070957.1 | protein GNAS isoform g |
| NM_001077490.3 | NP_001070958.1 | protein ALEX isoform Alex |
| NM_001309840.2 | NP_001296769.1 | protein ALEX isoform h |
| NM_001309842.2 | NP_001296771.1 | protein ALEX isoform i |
| NM_001309861.2 | NP_001296790.1 | protein ALEX isoform h |
| NM_001309883.1 | NP_001296812.1 | protein ALEX isoform Alex |
| NM_001410912.1 | NP_001397841.1 | protein ALEX isoform j |
| NM_001410913.1 | NP_001397842.1 | protein ALEX isoform k |
| NM_016592.5 | NP_057676.1 | protein SCG6 (secretogranin VI) isoform SCG6 |
| NM_080425.4 | NP_536350.2 | protein GNAS isoform XLas |
| NM_080426.4 | NP_536351.1 | protein GNAS isoform GNASS |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables D1 dopamine receptor binding |
IPI
IPI: Inferred from physical interaction
|
33571431 | GOA |
| enables G protein activity |
IDA
IDA: Inferred from direct assay
|
10200251 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12719376 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
20862257 | GOA |
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
12719376 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
7997272 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
20862257 | GOA |
| located in perinuclear region of cytoplasm |
IDA
IDA: Inferred from direct assay
|
21584660 | GOA |
| located in trans-Golgi network membrane |
IDA
IDA: Inferred from direct assay
|
7997272 | GOA |
GNAS Protein Structure
G-alpha: G-protein alpha subunit (8 - 383)
- 0
- 100
- 200
- 300
- 394 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
protein ALEX protein GNAS protein SCG6 (secretogranin VI) |
|
|
GNAS Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Cross
|
GNAS | P63092 | Coro1a | Mus musculus | O89053 | 26823173 | |
|
Intra
|
GNAS | Q5JWF2 | ADGRF1 | Homo sapiens | Q5T601 | 34110646 | |
|
Intra
|
GNAS | Q5JWF2 | ARRB1 | Homo sapiens | P49407 | 23353685 | |
|
Intra
|
GNAS | Q5JWF2 | ARRB1 | Homo sapiens | P49407 | 23353685 |
GNAS Antibodies
| Cat. No. | 상품명 | 신청 | Reactivity |
|---|---|---|---|
| HY-P86889 | GNAS Antibody (YA6582) | WB, ICC/IF, IHC-P | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mccune-Albright Syndrome |
|
|
| Pseudohypoparathyroidism, Type Ia |
|
|
| Osseous Heteroplasia, Progressive |
|
|
| Pseudohypoparathyroidism, Type Ic |
|
|
| Pseudohypoparathyroidism, Type Ib |
|
|
| Pseudopseudohypoparathyroidism |
|
|
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
|
| Pituitary Adenoma 3, Multiple Types |
|
|
| Pseudohypoparathyroidism |
|
|
| Brachydactyly |
|
|
| Monostotic Fibrous Dysplasia |
|
|
| Spastic Paraplegia 4, Autosomal Dominant |
|
|
| Conn'S Syndrome |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Acth-Independent Macronodular Adrenal Hyperplasia 1 |
|
|
| Fibrous Dysplasia / Mccune-Albright Syndrome |
|
|
| Fibrous Dysplasia |
|
|
| Pituitary Tumors |
|
|
| Mazabraud Syndrome |
|
|
| Acth-Independent Cushing Syndrome |
|
|
| Hyperthyroidism |
|
|
| Pancreatic Adenocarcinoma |
|
|
| Adenoma |
|
|
| Acromegaly |
|
|
| Precocious Puberty |
|
|
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
|
| Hyperphosphatemia |
|
|
| Adrenal Cortical Carcinoma |
|
|
| Multinodular Goiter |
|
|
| Graves' Disease |
|
|
| Growth Hormone Secreting Pituitary Adenoma |
|
|
| Pseudomyxoma Peritonei |
|
|
| Appendiceal Neoplasm |
|
|
| Osteitis Fibrosa |
|
|
| Cholera |
|
|
| Gastric Adenocarcinoma |
|
|
| Skin Melanoma |
|
|
| Goiter |
|
|
| Congenital Hypothyroidism |
|
|
| Endocrine Gland Cancer |
|
|
| Hyperprolactinemia |
|
|
| Pituitary Adenoma |
|
|
| Multiple Endocrine Neoplasia |
|
|
| Appendix Disease |
|
|
| Appendix Cancer |
|
|
| Acrodysostosis |
|
|
| Multiple Endocrine Neoplasia, Type I |
|
|
| Osteofibrous Dysplasia |
|
|
| Ovarian Cyst |
|
|
| Ossifying Fibroma |
|
|
| Cervical Cancer |
|
|
| Peutz-Jeghers Syndrome |
|
|
| Mulchandani-Bhoj-Conlin Syndrome |
|
|
| Peripheral Osteosarcoma |
|
|
| Lung Cancer Susceptibility 3 |
|
|
| Squamous Cell Carcinoma, Head And Neck |
|
|
| Cystadenoma |
|
|
| Papillary Carcinoma |
|
|
| Appendix Adenocarcinoma |
|
|
| Hypoparathyroidism |
|
|
| Hypocalcemia, Autosomal Dominant 1 |
|
|
| Calcinosis |
|
|
| Hormone Producing Pituitary Cancer |
|
|
| Adrenal Adenoma |
|
|
| Parosteal Osteosarcoma |
|
|
| Pituitary Cancer |
|
|
| Fibroma |
|
|
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
|
| Hypophosphatemia |
|
|
| Follicular Adenoma |
|
|
| Metal Metabolism Disorder |
|
|
| Polyhydramnios |
|
|
| Hypothyroidism |
|
|
| Osteoporosis |
|
|
| Prolactinoma |
|
|
| Common Bile Duct Neoplasm |
|
|
| Chromosome 2q37 Deletion Syndrome |
|
|
| Colorectal Cancer |
|
|
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
|
| Carney Complex Variant |
|
|
| Villous Adenoma |
|
|
| Endometrial Mucinous Adenocarcinoma |
|
|
| Ovarian Cystadenocarcinoma |
|
|
| Primary Pigmented Nodular Adrenocortical Disease |
|
|
| Lung Cancer |
|
|
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
|
| Hepatocellular Carcinoma |
|
|
| Multiple Enchondromatosis, Maffucci Type |
|
|
| Temple Syndrome |
|
|
| Transient Neonatal Diabetes Mellitus |
|
|
| Basophil Adenoma |
|
|
| Breast Cancer |
|
|
| Osteopetrosis |
|
|
| Precocious Puberty, Male-Limited |
|
|
| Juvenile Type Testicular Granulosa Cell Tumor |
|
|
| Testicular Granulosa Cell Tumor |
|
|
| Proteus Syndrome |
|
|
| Parathyroid Adenoma |
|
|
| Hypertension And Brachydactyly Syndrome |
|
|
| Hyperpituitarism |
|
|
| Phosphorus Metabolism Disease |
|
|
| Bone Benign Neoplasm |
|
|
| Dicer1 Syndrome |
|
|
| Osteochondrodysplasia |
|
|
| Silver-Russell Syndrome 1 |
|
|
| Ovarian Serous Cystadenocarcinoma |
|
|
| Functioning Pituitary Adenoma |
|
|
| Kagami-Ogata Syndrome |
|
|
| Craniosynostosis |
|
|
| Eiken Syndrome |
|
|
| Multiple Endocrine Neoplasia, Type Iv |
|
|
| Deficiency Anemia |
|
|
| Mucinous Adenocarcinoma |
|
|
| Enchondromatosis, Multiple, Ollier Type |
|
|
| Lissencephaly, X-Linked, 2 |
|
|
| Pituitary Gland Disease |
|
|
| Ovary Adenocarcinoma |
|
|
| Papillary Adenofibroma |
|
|
| Breast Juvenile Papillomatosis |
|
|
| Colon Adenocarcinoma |
|
|
| Adrenal Gland Disease |
|
|
| Dowling-Degos Disease 1 |
|
|
| Nevus, Epidermal |
|
|
| Thyroid Gland Disease |
|
|
| Beckwith-Wiedemann Syndrome |
|
|
| Bone Osteosarcoma |
|
|
| Hypertension, Essential |
|
|
| Hemochromatosis, Type 1 |
|
|
| Lynch Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | GNAS | VGNC | VGNC:108130 |
| Mus musculus | GNAS | MGD | MGI:95777 |
| Canis familiaris | GNAS | VGNC | VGNC:54650 |
| Rattus norvegicus | GNAS | RGD | RGD:2716 |
| Others | GNAS | NCBI |