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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]

CIViC summary for GNA11 Gene

GeneCards Summary for GNA11 Gene

GNA11 (G Protein Subunit Alpha 11) is a Protein Coding gene. Diseases associated with GNA11 include Hypocalciuric Hypercalcemia, Familial, Type Ii and Hypocalcemia, Autosomal Dominant 2. Among its related pathways are Akt Signaling and Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion. Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete 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

Additional gene information for GNA11 Gene

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

Genomics for GNA11 Gene

GeneHancer (GH) Regulatory Elements for GNA11 Gene

Promoters and enhancers for GNA11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J003093 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 657.9 +2.7 2672 7 PKNOX1 ARID4B SIN3A ZNF2 ZNF48 YY1 ZNF416 ZNF143 FOS ATF7 GNA11 CACTIN ZNF77 SGTA LMNB2 THOP1 ENSG00000261342 GC19M003098
GH19J003150 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 39 +59.0 58978 6 HDGF PKNOX1 SMAD1 FOXA2 ARNT YBX1 IRF4 POLR2B ZNF766 E2F8 LOC100996351 GC19P003153 GC19P003154 PIR47090 ZNF77 CACTIN GNA11 CACTIN-AS1 SF3A2 DOT1L
GH19J003605 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 27.2 +513.2 513193 4.6 HDGF PKNOX1 ARNT SIN3A YBX1 ZNF2 POLR2B ZNF766 SP3 MCM5 CACTIN-AS1 TBXA2R ZNF77 CACTIN ENSG00000267030 ZNF555 ENSG00000267769 YJU2 APBA3 GNA11
GH19J002976 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 23 -116.7 -116742 2.1 HDGF PKNOX1 CLOCK MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 TLE6 GNA11 ZNF77 S1PR4 NCLN LOC101928631 ZNF57 SLC39A3 GC19P003016
GH19J003625 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.8 +532.2 532169 2.3 HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CACTIN GNA11 ENSG00000266959 LOC105372244 ENSG00000267063 LOC100287614 ZNF77 TLE2 ZNF555 LOC100419704
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNA11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GNA11 gene promoter:
  • p53
  • HEN1
  • Pax-4a
  • CREB
  • deltaCREB
  • Pax-2a
  • Pax-2
  • Pax-5

Genomic Locations for GNA11 Gene

Genomic Locations for GNA11 Gene
chr19:3,094,410-3,124,004
(GRCh38/hg38)
Size:
29,595 bases
Orientation:
Plus strand
chr19:3,094,408-3,124,002
(GRCh37/hg19)
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 Lys107, Lys102, and isoforms=27
  • Modification sites at PhosphoSitePlus

Other Protein References for GNA11 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GNA11 Gene

Domains & Families for GNA11 Gene

Gene Families for GNA11 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

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

Function for GNA11 Gene

Molecular function for GNA11 Gene

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

Phenotypes From GWAS Catalog for GNA11 Gene

Gene Ontology (GO) - Molecular Function for GNA11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding IBA,IEA --
GO:0003924 GTPase activity IBA,IEA --
GO:0004871 obsolete 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:
  • Gna11 Gna11<tm1Soff>
  • Gna11 Gna11<tm1b(EUCOMM)Wtsi>
  • Gna11 Gna11<tm1a(EUCOMM)Wtsi>

Animal Model Products

miRNA for GNA11 Gene

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNA11 gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 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 HDA 17897319
GO:0005834 heterotrimeric G-protein complex IBA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with GNA11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GNA11 Gene

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,TAS --
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA --
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
[D-Trp7,9,10]-Substance P
89430-38-6
G-Protein antagonist peptide
143675-79-0
Gue 1654
397290-30-1
mastoparan
72093-21-1
SCH 202676 hydrobromide
265980-25-4

(5) Tocris Compounds for GNA11 Gene

Compound Action Cas Number
[D-Trp7,9,10]-Substance P Inhibits M1 ACh receptor activation of Gq/11 89430-38-6
G-Protein antagonist peptide Inhibits G protein activation by GPCRs 143675-79-0
Gue 1654 Selective inhibitor of OXE-R Gbetagamma signaling 397290-30-1
Mastoparan Activates Gi and Go 72093-21-1
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors 265980-25-4
genes like me logo Genes that share compounds with GNA11: view

Transcripts for GNA11 Gene

mRNA/cDNA for GNA11 Gene

(1) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(340) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GNA11 Gene

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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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.

Evidence on tissue expression from TISSUES for GNA11 Gene

  • Eye(4.6)
  • Blood(4.5)
  • Pancreas(4.4)
  • Nervous system(4.1)
  • Lung(3)
  • Muscle(2.9)
  • Heart(2.7)
  • Intestine(2.4)
  • Skin(2.4)
  • Kidney(2.3)
  • Thyroid gland(2.3)
  • Liver(2.2)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GNA11 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • skull
  • thyroid
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
  • ureter
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GNA11: view

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 34
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNA11 34
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GNA11 34 33
  • 94.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GNA11 34 33
  • 92.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gna11 16 34 33
  • 89.6 (n)
rat
(Rattus norvegicus)
Mammalia Gna11 33
  • 89.23 (n)
chicken
(Gallus gallus)
Aves GNA11 34 33
  • 82.64 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNA11 34
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gna11 33
  • 78.46 (n)
MGC76069 33
African clawed frog
(Xenopus laevis)
Amphibia gna11-prov 33
zebrafish
(Danio rerio)
Actinopterygii gna11b 34 33
  • 82.08 (n)
ManyToMany
gna14a 34
  • 70 (a)
ManyToMany
gna14 34
  • 66 (a)
ManyToMany
gnav1 34
  • 43 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Galpha49B 34 35
  • 72 (a)
ManyToMany
CG30054 34
  • 67 (a)
ManyToMany
CG17760 34 35
  • 62 (a)
ManyToMany
Galpha73B 35
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-30 34 33
  • 70.82 (n)
OneToMany
odr-3 35
  • 45 (a)
gpa-1 35
  • 43 (a)
gpa-8 35
  • 38 (a)
gpa-10 35
  • 35 (a)
gpa-9 35
  • 33 (a)
gpa-5 35
  • 32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPA2 34
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11283 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GNA11: view image

Paralogs for GNA11 Gene

Paralogs for GNA11 Gene

(19) SIMAP similar genes for GNA11 Gene using alignment to 2 proteins:

  • GNA11_HUMAN
  • K7EL62_HUMAN

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 Variation AA Info Type
rs1057519742 pathogenic, likely-pathogenic, Malignant melanoma, Intraocular melanoma, Malignant melanoma of skin 3,118,944(+) A/C/T coding_sequence_variant, missense_variant
rs140749796 pathogenic, Hypocalcemia, autosomal dominant 2, Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361] 3,121,122(+) C/G/T coding_sequence_variant, missense_variant, synonymous_variant
rs587777019 pathogenic, Hypocalciuric hypercalcemia, familial, type II, Hypocalciuric hypercalcemia, familial 2 (HHC2) [MIM:145981] 3,113,412(+) T/A coding_sequence_variant, missense_variant
rs587777020 pathogenic, Hypocalcemia, autosomal dominant 2, Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361] 3,115,009(+) G/A coding_sequence_variant, missense_variant
rs587777021 pathogenic, Hypocalcemia, autosomal dominant 2, Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361] 3,110,190(+) C/T coding_sequence_variant, missense_variant

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)

Additional Variant Information for GNA11 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GNA11 Gene

MalaCards: The human disease database

(26) MalaCards diseases for GNA11 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypocalciuric hypercalcemia, familial, type ii
  • hhc2
hypocalcemia, autosomal dominant 2
  • hypoc2
melanoma, uveal
  • uveal melanoma
phakomatosis cesiomarmorata
  • phakomatosis pigmentovascularis type 5
phakomatosis cesioflammea
  • phakomatosis pigmentovascularis type 2
- 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
  • 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.

Additional Disease Information for GNA11

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 α11 in hypercalcemia and hypocalcemia. (PMID: 23802516) Nesbit MA … Thakker RV (The New England journal of medicine 2013) 2 3 4 58
  2. Mutations in GNA11 in uveal melanoma. (PMID: 21083380) Van Raamsdonk CD … Bastian BC (The New England journal of medicine 2010) 3 44 58
  3. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Reduced expression of GNA11 and silencing of MCT1 in human breast cancers. (PMID: 12759536) Asada K … Ushijima T (Oncology 2003) 3 22 58

Products for GNA11 Gene

Sources for GNA11 Gene

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