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Aliases for GNA11 Gene

Aliases for GNA11 Gene

  • Guanine Nucleotide Binding Protein (G Protein), Alpha 11 (Gq Class) 2 3
  • Guanine Nucleotide-Binding Protein G(Y) Subunit Alpha 3 4
  • G-Protein Subunit Alpha-11 3 4
  • G Alpha-11 3 4
  • HYPOC2 3 6
  • HHC2 3 6
  • Guanine Nucleotide-Binding Protein Subunit Alpha-11 3
  • Hypocalciuric Hypercalcemia 2 2
  • GNA-11 3
  • FBH2 3
  • FHH2 3
  • GA11 4
  • FBH 3

External Ids for GNA11 Gene

Previous HGNC Symbols for GNA11 Gene

  • HHC2

Previous GeneCards Identifiers for GNA11 Gene

  • GC19P003213
  • GC19P003163
  • GC19P003034
  • GC19P003045
  • GC19P002861

Summaries for GNA11 Gene

Entrez Gene Summary for GNA11 Gene

  • 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]

GeneCards Summary for GNA11 Gene

GNA11 (Guanine Nucleotide Binding Protein (G Protein), Alpha 11 (Gq Class)) is a Protein Coding gene. Diseases associated with GNA11 include hypocalcemia, autosomal dominant 2 and hypocalciuric hypercalcemia, type ii. Among its related pathways are Signaling by GPCR and Akt Signaling. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is GNAQ.

UniProtKB/Swiss-Prot for GNA11 Gene

  • Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Acts as an activator of phospholipase C

Tocris Summary for GNA11 Gene

  • Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand-receptor binding results in detachment of the G protein, switching it to an 'on' state and permitting Galpha activation of second messenger signalling cascades. There are several types of Galpha proteins; Galphaq/11 stimulates PLCbeta which catalyses the hydrolysis of PIP2 to the second messengers IP3 and DAG.

Gene Wiki entry for GNA11 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNA11 Gene

Genomics for GNA11 Gene

Regulatory Elements for GNA11 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GNA11 Gene

Start:
3,094,410 bp from pter
End:
3,124,004 bp from pter
Size:
29,595 bases
Orientation:
Plus strand

Genomic View for GNA11 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GNA11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNA11 Gene

Proteins for GNA11 Gene

  • Protein details for GNA11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29992-GNA11_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein subunit alpha-11
    Protein Accession:
    P29992
    Secondary Accessions:
    • O15109
    • Q14350
    • Q6IB00

    Protein attributes for GNA11 Gene

    Size:
    359 amino acids
    Molecular mass:
    42123 Da
    Quaternary structure:
    • G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts with RGS22. Interacts with NTSR1.

neXtProt entry for GNA11 Gene

Proteomics data for GNA11 Gene at MOPED

Post-translational modifications for GNA11 Gene

  • Ubiquitination at Lys27, Lys102, and Lys107
  • Modification sites at PhosphoSitePlus

Other Protein References for GNA11 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GNA11 (G-alpha 11)

No data available for DME Specific Peptides for GNA11 Gene

Domains for GNA11 Gene

Suggested Antigen Peptide Sequences for GNA11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P29992

UniProtKB/Swiss-Prot:

GNA11_HUMAN :
  • P29992
Family:
  • Belongs to the G-alpha family. G(q) subfamily.
genes like me logo Genes that share domains with GNA11: view

No data available for Gene Families for GNA11 Gene

Function for GNA11 Gene

Molecular function for GNA11 Gene

GENATLAS Biochemistry:
guanine nucleotide binding protein (G protein),alpha 11 (Gq class),mediating pertussis toxin-resistant stimulation of phospholipase C beta
UniProtKB/Swiss-Prot 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

Gene Ontology (GO) - Molecular Function for GNA11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IBA --
GO:0004871 signal transducer activity IBA --
GO:0005525 GTP binding IEA --
GO:0019001 guanyl nucleotide binding --
GO:0031683 G-protein beta/gamma-subunit complex binding IBA --
genes like me logo Genes that share ontologies with GNA11: view
genes like me logo Genes that share phenotypes with GNA11: view

Animal Models for GNA11 Gene

MGI Knock Outs for GNA11:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GNA11

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for GNA11 Gene

Localization for GNA11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNA11 Gene

Cell membrane; Lipid-anchor. Cytoplasm. Note=In testicular cells, expressed exclusively in the cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GNA11 Gene COMPARTMENTS Subcellular localization image for GNA11 gene
Compartment Confidence
plasma membrane 5
cytosol 3
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GNA11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 9175863
GO:0005765 lysosomal membrane IDA 17897319
GO:0005834 heterotrimeric G-protein complex IBA --
GO:0005886 plasma membrane TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with GNA11: view

Pathways for GNA11 Gene

genes like me logo Genes that share pathways with GNA11: view

Gene Ontology (GO) - Biological Process for GNA11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0001508 action potential IBA --
GO:0006184 obsolete GTP catabolic process --
GO:0007165 signal transduction TAS 8530500
GO:0007186 G-protein coupled receptor signaling pathway --
genes like me logo Genes that share ontologies with GNA11: view

Compounds for GNA11 Gene

(5) Tocris Compounds for GNA11 Gene

Compound Action Cas Number
8-Bromo-cGMP, sodium salt cGMP analog; activates PKG [51116-01-9]
CCG 50014 Potent and selective inhibitor of regulator of G-protein signaling 4 (RGS4) protein [883050-24-6]
Gallein Inhibitor of betagamma signaling [2103-64-2]
Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt [70323-44-3]
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors [265980-25-4]

(3) HMDB Compounds for GNA11 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1
genes like me logo Genes that share compounds with GNA11: view

Transcripts for GNA11 Gene

Unigene Clusters for GNA11 Gene

Guanine nucleotide binding protein (G protein), alpha 11 (Gq class):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GNA11

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GNA11 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b
SP1: - -
SP2:
SP3:

Relevant External Links for GNA11 Gene

GeneLoc Exon Structure for
GNA11
ECgene alternative splicing isoforms for
GNA11

Expression for GNA11 Gene

mRNA expression in normal human tissues for GNA11 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GNA11 Gene

SOURCE GeneReport for Unigene cluster for GNA11 Gene Hs.650575

mRNA Expression by UniProt/SwissProt for GNA11 Gene

P29992-GNA11_HUMAN
Tissue specificity: Expressed in testis.
genes like me logo Genes that share expressions with GNA11: view

Expression partners for GNA11 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for GNA11 Gene

Orthologs for GNA11 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GNA11 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GNA11 35
  • 92.92 (n)
  • 98.58 (a)
GNA11 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gna11 35
  • 89.6 (n)
  • 98.05 (a)
Gna11 16
Gna11 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GNA11 35
  • 94.61 (n)
  • 93.54 (a)
GNA11 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gna11 35
  • 89.23 (n)
  • 96.66 (a)
oppossum
(Monodelphis domestica)
Mammalia GNA11 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNA11 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNA11 35
  • 82.64 (n)
  • 97.21 (a)
GNA11 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNA11 36
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gna11 35
  • 78.46 (n)
  • 92.76 (a)
MGC76069 35
African clawed frog
(Xenopus laevis)
Amphibia gna11-prov 35
zebrafish
(Danio rerio)
Actinopterygii gna11b 35
  • 82.08 (n)
  • 90.81 (a)
gna11b 36
  • 91 (a)
ManyToMany
gna14 36
  • 66 (a)
ManyToMany
gna14a 36
  • 70 (a)
ManyToMany
gnav1 36
  • 43 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG17760 37
  • 51 (a)
Galpha49B 37
  • 76 (a)
Galpha73B 37
  • 35 (a)
CG17760 36
  • 62 (a)
ManyToMany
CG30054 36
  • 67 (a)
ManyToMany
Galpha49B 36
  • 72 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea gpa-1 37
  • 43 (a)
gpa-10 37
  • 35 (a)
gpa-5 37
  • 32 (a)
gpa-8 37
  • 38 (a)
gpa-9 37
  • 33 (a)
odr-3 37
  • 45 (a)
egl-30 35
  • 70.82 (n)
  • 83.29 (a)
egl-30 36
  • 83 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPA2 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11283 36
  • 73 (a)
OneToMany
Species with no ortholog for GNA11:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GNA11 Gene

ENSEMBL:
Gene Tree for GNA11 (if available)
TreeFam:
Gene Tree for GNA11 (if available)

Paralogs for GNA11 Gene

Paralogs for GNA11 Gene

Selected SIMAP similar genes for GNA11 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for GNA11 Gene

genes like me logo Genes that share paralogs with GNA11: view

Variants for GNA11 Gene

Sequence variations from dbSNP and Humsavar for GNA11 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs4900 -- 3,119,241(+) CGGAC(C/T)ATCAT reference, synonymous-codon
rs8092 -- 3,123,637(-) AGCCG(A/G)GGGAC utr-variant-3-prime
rs10669 -- 3,123,792(-) GTATA(G/T)AATAT utr-variant-3-prime
rs82164 -- 3,097,872(-) GCCTC(A/G)GACAC intron-variant
rs107155 -- 3,118,121(+) CCCAA(A/G)GCAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GNA11 Gene

Variant ID Type Subtype PubMed ID
nsv910694 CNV Loss 21882294
dgv47n68 CNV Loss 17160897
dgv3644n71 CNV Loss 21882294
nsv910697 CNV Loss 21882294
nsv910700 CNV Loss 21882294
nsv509716 CNV Insertion 20534489
dgv3645n71 CNV Loss 21882294
dgv3646n71 CNV Loss 21882294
dgv3647n71 CNV Loss 21882294
nsv470112 CNV Gain 18288195
nsv470113 CNV Loss 18288195
nsv910712 CNV Loss 21882294
esv2717922 CNV Deletion 23290073
nsv910713 CNV Gain 21882294
nsv910714 CNV Loss 21882294
esv2669769 CNV Deletion 23128226

Relevant External Links for GNA11 Gene

HapMap Linkage Disequilibrium report
GNA11
Human Gene Mutation Database (HGMD)
GNA11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNA11 Gene

Disorders for GNA11 Gene

(2) OMIM Diseases for GNA11 Gene (139313)

UniProtKB/Swiss-Prot

GNA11_HUMAN
  • Hypocalciuric hypercalcemia, familial 2 (HHC2) [MIM:145981]: A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. {ECO:0000269 PubMed:23802516}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361]: A form of hypocalcemia, a disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. {ECO:0000269 PubMed:23782177, ECO:0000269 PubMed:23802516}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GNA11

Genetic Association Database (GAD)
GNA11
Human Genome Epidemiology (HuGE) Navigator
GNA11
genes like me logo Genes that share disorders with GNA11: view

No data available for Novoseek inferred disease relationships and Genatlas for GNA11 Gene

Publications for GNA11 Gene

  1. Mutations affecting G-protein subunit I+11 in hypercalcemia and hypocalcemia. (PMID: 23802516) Nesbit M.A. … Thakker R.V. (N. Engl. J. Med. 2013) 2 3 4
  2. Reduced expression of GNA11 and silencing of MCT1 in human breast cancers. (PMID: 12759536) Asada K. … Ushijima T. (Oncology 2003) 3 23
  3. Evolution of the mammalian G protein alpha subunit multigene family. (PMID: 1302014) Wilkie T.M. … Simon M.I. (Nat. Genet. 1992) 2 3
  4. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4
  5. Mutations in GNA11 in uveal melanoma. (PMID: 21083380) Van Raamsdonk C.D. … Bastian B.C. (N. Engl. J. Med. 2010) 3 48

Products for GNA11 Gene

Sources for GNA11 Gene

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