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Aliases for GNA11 Gene

Aliases for GNA11 Gene

  • G Protein Subunit Alpha 11 2 3 5
  • Guanine Nucleotide Binding Protein (G Protein), Alpha 11 (Gq Class) 2 3
  • Guanine Nucleotide-Binding Protein G(Y) Subunit Alpha 3 4
  • G Alpha-11 3 4
  • Guanine Nucleotide-Binding Protein Subunit Alpha-11 3
  • Hypocalciuric Hypercalcemia 2 2
  • G-Protein Subunit Alpha-11 4
  • GNA-11 3
  • HYPOC2 3
  • FBH2 3
  • FHH2 3
  • HHC2 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 (G Protein Subunit Alpha 11) is a Protein Coding gene. Diseases associated with GNA11 include Hypocalciuric Hypercalcemia, Type Ii and Hypocalcemia, Autosomal Dominant 2. Among its related pathways are Signaling by GPCR and Sweet Taste Signaling. GO annotations related to this gene include GTP binding and signal transducer 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 binding causes a receptor conformational change, detaching the G protein and switching it 'on'.

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

Enhancers for GNA11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F002976 0.8 ENCODE 22.9 -116.7 -116743 2.1 HDGF PKNOX1 MLX CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 GNA11 TLE6 ZNF77 S1PR4 NCLN LOC101928631 ZNF57 SLC39A3 GC19P003016
GH19F003124 1.1 FANTOM5 Ensembl ENCODE 18.7 +31.2 31231 1.9 PKNOX1 ARID4B KLF17 GLI4 BMI1 RAD21 ZNF121 SCRT2 ZNF143 KLF7 GNA11 S1PR4 NCLN AES GNA15 LOC105372243 LOC390876
GH19F003067 1 Ensembl ENCODE 12.7 -26.3 -26347 1.3 CTCF ZBTB33 GNA11 TLE6 ZNF77 AES GC19P003066 LOC105372242
GH19F003071 1 Ensembl ENCODE 12.7 -21.5 -21535 2.8 HDAC1 ATF1 PKNOX1 ARNT SIN3A BMI1 RAD21 ZNF121 FOS SMARCA5 GNA11 TLE6 ZNF77 AES LOC105372242 GC19P003066
GH19F003070 0.8 ENCODE 12.7 -23.7 -23733 0.2 USF1 L3MBTL2 NR2F1 NFYC USF2 DPF2 ZNF384 ZNF664 RAD51 NFYB GNA11 TLE6 ZNF77 GC19P003066 LOC105372242
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GNA11 on UCSC Golden Path with GeneCards custom track

Promoters for GNA11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000341956 591 2800 PKNOX1 ARID4B SIN3A ZNF2 ZNF143 ZNF416 FOS SP3 SP5 YY2

Genomic Location for GNA11 Gene

Chromosome:
19
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

Genes around GNA11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNA11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for GNA11 Gene

  • (Microbial infection) Deamidated at Gln-209 by Photorhabdus asymbiotica toxin PAU_02230, blocking GTP hydrolysis of heterotrimeric GNAQ or GNA11 and G-alphai (GNAI1, GNAI2 or GNAI3) proteins, thereby activating RhoA.
  • Ubiquitination at Lys 27, Lys 102, and Lys 107
  • Modification sites at PhosphoSitePlus

Other Protein References for GNA11 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GNA11 (G-alpha 11)
  • Cloud-Clone Corp. Antibodies for GNA11

No data available for DME Specific Peptides for GNA11 Gene

Domains & Families 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 :
  • Belongs to the G-alpha family. G(q) subfamily.
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:0001664 G-protein coupled receptor binding IEA --
GO:0003924 GTPase activity IEA,TAS --
GO:0004871 signal transducer activity IEA --
GO:0005525 GTP binding IEA --
GO:0019001 guanyl nucleotide binding IEA --
genes like me logo Genes that share ontologies with GNA11: view
genes like me logo Genes that share phenotypes with GNA11: view

Human Phenotype Ontology for GNA11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNA11 Gene

MGI Knock Outs for GNA11:

Animal Model Products

miRNA for GNA11 Gene

miRTarBase miRNAs that target GNA11

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
cytosol 4
cytoskeleton 2
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for GNA11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment ISS --
GO:0005737 cytoplasm TAS 9175863
GO:0005765 lysosomal membrane IDA 17897319
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GNA11: view

Pathways & Interactions for GNA11 Gene

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

SIGNOR curated interactions for GNA11 Gene

Is activated by:

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 IEA,IBA --
GO:0007165 signal transduction IEA,TAS 8530500
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007213 G-protein coupled acetylcholine receptor signaling pathway ISS --
genes like me logo Genes that share ontologies with GNA11: view

Drugs & Compounds for GNA11 Gene

(3) Drugs for GNA11 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(5) Additional Compounds for GNA11 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
8-Bromo-cGMP, sodium salt
51116-01-9
CMPD101
865608-11-3
Gallein
2103-64-2
G-Protein antagonist peptide
143675-79-0
Pertussis Toxin
70323-44-3

(5) Tocris Compounds for GNA11 Gene

Compound Action Cas Number
8-Bromo-cGMP, sodium salt cGMP analog; activates PKG 51116-01-9
CMPD101 Potent and selective GRK2/3 inhibitor 865608-11-3
Gallein Inhibitor of betagamma signaling 2103-64-2
G-Protein antagonist peptide Inhibits G protein activation by GPCRs 143675-79-0
Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt 70323-44-3
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:

Inhibitory RNA Products

Clone 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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GNA11 Gene



Protein tissue co-expression partners for GNA11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GNA11 Gene:

GNA11

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 expression patterns with GNA11: view

Primer Products

No data available for 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
oppossum
(Monodelphis domestica)
Mammalia GNA11 35
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNA11 35
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GNA11 34 35
  • 94.61 (n)
cow
(Bos Taurus)
Mammalia GNA11 34 35
  • 92.92 (n)
mouse
(Mus musculus)
Mammalia Gna11 34 16 35
  • 89.6 (n)
rat
(Rattus norvegicus)
Mammalia Gna11 34
  • 89.23 (n)
chicken
(Gallus gallus)
Aves GNA11 34 35
  • 82.64 (n)
lizard
(Anolis carolinensis)
Reptilia GNA11 35
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gna11 34
  • 78.46 (n)
MGC76069 34
African clawed frog
(Xenopus laevis)
Amphibia gna11-prov 34
zebrafish
(Danio rerio)
Actinopterygii gna11b 34 35
  • 82.08 (n)
gna14a 35
  • 70 (a)
ManyToMany
gna14 35
  • 66 (a)
ManyToMany
gnav1 35
  • 43 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Galpha49B 36 35
  • 76 (a)
CG30054 35
  • 67 (a)
ManyToMany
CG17760 36 35
  • 51 (a)
Galpha73B 36
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-30 34 35
  • 70.82 (n)
odr-3 36
  • 45 (a)
gpa-1 36
  • 43 (a)
gpa-8 36
  • 38 (a)
gpa-10 36
  • 35 (a)
gpa-9 36
  • 33 (a)
gpa-5 36
  • 32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPA2 35
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11283 35
  • 73 (a)
OneToMany
Species where no ortholog for GNA11 was found in the sources mined by GeneCards:
  • 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

(19) 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
rs140749796 Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361], Pathogenic 3,121,122(+) GTGTT(C/G/T)GCGGC reference, synonymous-codon, missense
rs587777019 Hypocalciuric hypercalcemia, familial 2 (HHC2) [MIM:145981], Pathogenic 3,113,412(+) GACCC(A/T)GTGGG reference, missense
rs587777020 Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361], Pathogenic 3,115,009(+) GCTGC(A/G)GGTCC reference, missense
rs587777021 Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361], Pathogenic 3,110,190(+) AGATG(C/T)GCATC reference, missense
rs587777022 Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361], Pathogenic 3,118,950(+) GCGGT(C/G/T)GGAGC reference, missense

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

Variant ID Type Subtype PubMed ID
dgv47n68 CNV loss 17160897
esv2669769 CNV deletion 23128226
esv2717922 CNV deletion 23290073
esv3643456 CNV loss 21293372
nsv1061420 CNV gain 25217958
nsv1148747 CNV insertion 26484159
nsv470112 CNV gain 18288195
nsv470113 CNV loss 18288195
nsv509716 CNV insertion 20534489
nsv578420 CNV loss 21841781

Variation tolerance for GNA11 Gene

Residual Variation Intolerance Score: 18.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.97; 20.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNA11 Gene

Human Gene Mutation Database (HGMD)
GNA11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNA11

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

Disorders for GNA11 Gene

MalaCards: The human disease database

(23) MalaCards diseases for GNA11 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypocalciuric hypercalcemia, type ii
  • hypocalciuric hypercalcemia, familial, type ii
hypocalcemia, autosomal dominant 2
  • autosomal dominant hypocalcemia 2
phakomatosis cesiomarmorata
  • phakomatosis pigmentovascularis type 5
uveal melanoma
  • melanoma of uvea
hypocalcemia, autosomal dominant
  • hypocalcemia, autosomal dominant, with bartter syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GNA11 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNA11_HUMAN
  • 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.
  • 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.

Relevant External Links for GNA11

Genetic Association Database (GAD)
GNA11
Human Genome Epidemiology (HuGE) Navigator
GNA11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNA11
genes like me logo Genes that share disorders with GNA11: view

No data available for 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 64
  2. Mutations in GNA11 in uveal melanoma. (PMID: 21083380) Van Raamsdonk C.D. … Bastian B.C. (N. Engl. J. Med. 2010) 3 46 64
  3. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Reduced expression of GNA11 and silencing of MCT1 in human breast cancers. (PMID: 12759536) Asada K. … Ushijima T. (Oncology 2003) 3 22 64

Products for GNA11 Gene

Sources for GNA11 Gene

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