QuickView for GNAS (gene)

Gene Symbol:

GNAS Homo sapiens

Full name:

GNAS complex locus

Synonyms:

AHO, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, PITA3, POH, SCG6, SgVI, protein ALEX, protein GNAS, protein SCG6 (secretogranin VI), G protein subunit alpha S, adenylate cyclase-stimulating G alpha protein, alternative gene product encoded by XL-exon, extra large alphas protein, guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1, guanine nucleotide regulatory protein, guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas, neuroendocrine secretory protein, secretogranin VI

Genomic Location:

Chr 20: 56848190-56919645

Description:

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 corre...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Canis lupus familiaris ,  Gallus gallus ,  Pan troglodytes ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CGTSACG_PAX3_B ,  TGGAAA_NFAT_Q4_01 ,  FOXO1_02 ,  E12_Q6 ,  MYOD_Q6_01 ,  MYOD_01 ,  TAL1ALPHAE47_01 ,  USF_Q6 ,  SREBP1_02 ,  MYCMAX_03 ,  YTATTTTNR_MEF2_02 ,  CACGTG_MYC_Q2 ,  MAX_01 ,  ATF4_Q2 ,  ARNT_02 ,  FAC1_01 ,  ZIC3_01 ,  SREBP1_Q6 ,  E2A_Q2 ,  MYB_Q5_01 ,  CREB_Q4 ,  GGGAGGRR_MAZ_Q6 ,  CREBP1_Q2 ,  TFIII_Q6 ,  RGAANNTTC_HSF1_01 ,  TAL1BETAE47_01 ,  GTGACGY_E4F1_Q6 ,  MEF2_01 ,  CAGGTG_E12_Q6 ,  MYOD_Q6 ,  E4F1_Q6 ,  E47_01 ,  GCM_Q2 ,  TCCAGAT_MIR5165P ,  USF_01 ,  GATA2_01 ,  RNGTGGGC_UNKNOWN ,  MYB_Q6 ,  NCX_01 ,  USF_Q6_01 ,  TAATTA_CHX10_01 ,  YGCGYRCGC_UNKNOWN ,  TTGTTT_FOXO4_01 ,  CREB_Q2 ,  ZIC2_01 ,  YRCCAKNNGNCGC_UNKNOWN ,  AACTTT_UNKNOWN ,  YAATNANRNNNCAG_UNKNOWN ,  ER_Q6 ,  FOXO4_02 ,  CP2_01 ,  LMO2COM_01 ,  MYB_Q3

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-124u ,  Predicted Gene Targets for miR-155

Cytogenetic Map:

20q13.32

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