Human Gene GNA11 (uc002lxd.3)
  Description: Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.
RefSeq Summary (NM_002067): The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr19:3,094,408-3,121,454 Size: 27,047 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr19:3,094,650-3,121,177 Size: 26,528 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:3,094,408-3,121,454)mRNA (may differ from genome)Protein (359 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSCGAPEnsemblEntrez GeneExonPrimer
GeneCardsGeneNetworkH-INVHGNCHPRDLynx
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: GNA11_HUMAN
DESCRIPTION: RecName: Full=Guanine nucleotide-binding protein subunit alpha-11; Short=G alpha-11; Short=G-protein subunit alpha-11; AltName: Full=Guanine nucleotide-binding protein G(y) subunit alpha;
FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Acts as an activator of phospholipase C.
SUBUNIT: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor (Probable).
SIMILARITY: Belongs to the G-alpha family. G(q) subfamily.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GNA11
CDC HuGE Published Literature: GNA11

-  MalaCards Disease Associations
  MalaCards Gene Search: GNA11
Diseases sorted by gene-association score: hypocalciuric hypercalcemia, type ii* (1677), hypocalcemia, autosomal dominant 2* (1330), phakomatosis cesiomarmorata* (350), uveal melanoma* (337), phakomatosis cesioflammea* (247), hypocalcemia, autosomal dominant* (219), foramen magnum meningioma (16), familial hypocalciuric hypercalcemia (14), hypocalciuric hypercalcemia, type iii (12), charcot-marie-tooth disease, dominant intermediate f (11), central nervous system melanocytic neoplasm (11), melanomatosis (11), mucosal melanoma (10), pseudopseudohypoparathyroidism (10), hypocalciuric hypercalcemia, type i (10), pertussis (9), meningeal melanomatosis (9), pseudohypoparathyroidism ia (9), malignant conjunctival melanoma (7), chondrocalcinosis (6), skull base meningioma (6), dyschromatosis universalis hereditaria (6), mccune-albright syndrome, somatic, mosaic (5), meningeal melanocytoma (5), conjunctival cancer (5), sensory system cancer (4), ocular cancer (1), nervous system cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 69.23 RPKM in Small Intestine - Terminal Ileum
Total median expression: 1377.17 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -172.50242-0.713 Picture PostScript Text
3' UTR -93.00277-0.336 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000654 - Gprotein_alpha_Q
IPR001019 - Gprotein_alpha_su
IPR011025 - GproteinA_insert

Pfam Domains:
PF00025 - ADP-ribosylation factor family
PF00503 - G-protein alpha subunit

SCOP Domains:
47895 - Transducin (alpha subunit), insertion domain
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on P29992
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0001664 G-protein coupled receptor binding
GO:0003924 GTPase activity
GO:0004871 signal transducer activity
GO:0005525 GTP binding
GO:0019001 guanyl nucleotide binding
GO:0031683 G-protein beta/gamma-subunit complex binding
GO:0031826 type 2A serotonin receptor binding
GO:0046872 metal ion binding

Biological Process:
GO:0001501 skeletal system development
GO:0001508 action potential
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007213 G-protein coupled acetylcholine receptor signaling pathway
GO:0007507 heart development
GO:0007603 phototransduction, visible light
GO:0009649 entrainment of circadian clock
GO:0030168 platelet activation
GO:0045634 regulation of melanocyte differentiation
GO:0048066 developmental pigmentation
GO:0060158 phospholipase C-activating dopamine receptor signaling pathway
GO:0071467 cellular response to pH

Cellular Component:
GO:0001750 photoreceptor outer segment
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005834 heterotrimeric G-protein complex
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC089041 - Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class), mRNA (cDNA clone MGC:99679 IMAGE:6085072), complete cds.
M69013 - Human guanine nucleotide-binding regulatory protein (G-y-alpha) mRNA, complete cds.
JD460836 - Sequence 441860 from Patent EP1572962.
JD458872 - Sequence 439896 from Patent EP1572962.
JD462745 - Sequence 443769 from Patent EP1572962.
BC096225 - Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class), mRNA (cDNA clone MGC:116878 IMAGE:40005016), complete cds.
BC096226 - Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class), mRNA (cDNA clone MGC:116879 IMAGE:40005021), complete cds.
BC096227 - Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class), mRNA (cDNA clone MGC:116880 IMAGE:40005025), complete cds.
CR457004 - Homo sapiens full open reading frame cDNA clone RZPDo834F115D for gene GNA11, guanine nucleotide binding protein (G protein), alpha 11 (Gq class); complete cds, incl. stopcodon.
AB463701 - Synthetic construct DNA, clone: pF1KB6507, Homo sapiens GNA11 gene for guanine nucleotide binding protein (G protein) alpha 11, without stop codon, in Flexi system.
AF011497 - Homo sapiens guanine nucleotide binding protein alpha 11 subunit (G11) mRNA, complete cds.
KJ891256 - Synthetic construct Homo sapiens clone ccsbBroadEn_00650 GNA11 gene, encodes complete protein.
AF493900 - Homo sapiens guanine nucleotide binding protein alpha 11 (GNA11) mRNA, complete cds.
AB209435 - Homo sapiens mRNA for Guanine nucleotide-binding protein G, alpha subunit variant protein.
AK091639 - Homo sapiens cDNA FLJ34320 fis, clone FEBRA2008741, highly similar to GUANINE NUCLEOTIDE-BINDING PROTEIN G(Y), ALPHA SUBUNIT.
DQ590780 - Homo sapiens piRNA piR-57892, complete sequence.
JD039239 - Sequence 20263 from Patent EP1572962.
JD482402 - Sequence 463426 from Patent EP1572962.
JD323508 - Sequence 304532 from Patent EP1572962.
JD307522 - Sequence 288546 from Patent EP1572962.
JD057637 - Sequence 38661 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04020 - Calcium signaling pathway
hsa04270 - Vascular smooth muscle contraction
hsa04540 - Gap junction
hsa04730 - Long-term depression
hsa04912 - GnRH signaling pathway
hsa05142 - Chagas disease

BioCyc Knowledge Library
PWY3DJ-1 - cyclic AMP biosynthesis

BioCarta from NCI Cancer Genome Anatomy Project
h_biopeptidesPathway - Bioactive Peptide Induced Signaling Pathway

Reactome (by CSHL, EBI, and GO)

Protein P29992 (Reactome details) participates in the following event(s):

R-HSA-398188 PLC beta is activated by G alpha (q)
R-HSA-400586 G alpha (q) binds to Trio family RhoGEFs
R-HSA-416358 G alpha (q) inhibits PI3K alpha
R-HSA-416510 GRK5 sequesters activated Gq
R-HSA-416516 GRK2 sequesters activated Gq
R-HSA-418582 G alpha (q) auto-inactivates by hydrolysing GTP to GDP
R-HSA-397835 Dissociation of the PAR:Gq complex
R-HSA-418576 Dissociation of the P2Y purinoceptor 1:Gq complex
R-HSA-428752 Dissociation of the TP:Gq complex
R-HSA-749452 The Ligand:GPCR:Gq complex dissociates
R-HSA-750993 Inactive G alpha (q) reassociates with G beta:gamma
R-HSA-400023 Gq alpha activates Phospholipase C beta
R-HSA-400027 Gq alpha:G beta:G gamma dissociates to Gq alpha:GTP and G beta:G gamma
R-HSA-396996 Thrombin-activated PAR binds G-protein Gq
R-HSA-418581 Activated P2Y purinoceptor 1 binds G-protein Gq
R-HSA-428749 Activated TP receptor binds G-proten Gq
R-HSA-749448 Liganded Gq-activating GPCRs bind inactive heterotrimeric Gq
R-HSA-399995 Muscarinic Acetylcholine Receptor M3 activates Gq
R-HSA-416530 GPR40:fatty acid activates Gq
R-HSA-114558 Gq activation by PAR
R-HSA-418579 Gq activation by P2Y purinoceptor 1
R-HSA-428750 Gq activation by TP receptor
R-HSA-379048 Liganded Gq/11-activating GPCRs act as GEFs for Gq/11
R-HSA-114688 PLC-beta hydrolyses PIP2 to DAG and IP3
R-HSA-399998 Activated Phospholipase C beta-1 hydrolyzes 1-Phosphatidyl-D-myo-inositol 4,5-bisphosphate
R-HSA-416476 G alpha (q) signalling events
R-HSA-456926 Thrombin signalling through proteinase activated receptors (PARs)
R-HSA-418592 ADP signalling through P2Y purinoceptor 1
R-HSA-428930 Thromboxane signalling through TP receptor
R-HSA-399997 Acetylcholine regulates insulin secretion
R-HSA-434316 Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
R-HSA-388396 GPCR downstream signalling
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-392518 Signal amplification
R-HSA-422356 Regulation of insulin secretion
R-HSA-400451 Free fatty acids regulate insulin secretion
R-HSA-372790 Signaling by GPCR
R-HSA-109582 Hemostasis
R-HSA-163685 Energy Metabolism
R-HSA-162582 Signal Transduction
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: GA11, GNA11_HUMAN, NM_002067, NP_002058, O15109, P29992, Q14350, Q6IB00
UCSC ID: uc002lxd.3
RefSeq Accession: NM_002067
Protein: P29992 (aka GNA11_HUMAN or GB11_HUMAN)
CCDS: CCDS12103.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GNA11:
cmtc (Isolated and Classic Cutis Marmorata Telangiectatica Congenita)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002067.2
exon count: 7CDS single in 3' UTR: no RNA size: 1615
ORF size: 1080CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2360.00frame shift in genome: no % Coverage: 99.01
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.