GNAT2 Gene (Protein Coding)

G Protein Subunit Alpha Transducin 2

GC01M109603
GIFtS:
47
Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008] See more...

Aliases for GNAT2 Gene

Aliases for GNAT2 Gene

  • G Protein Subunit Alpha Transducin 2 2 3 5
  • Guanine Nucleotide Binding Protein (G Protein), Alpha Transducing Activity Polypeptide 2 2 3
  • Guanine Nucleotide-Binding Protein G(T) Subunit Alpha-2 3 4
  • Transducin Alpha-2 Chain 3 4
  • ACHM4 2 3
  • GNATC 3 4
  • Transducin, Cone-Specific, Alpha Polypeptide 3
  • Cone-Type Transducin Alpha Subunit 3
  • GNAT2 5

External Ids for GNAT2 Gene

Previous GeneCards Identifiers for GNAT2 Gene

  • GC01M110624
  • GC01M109075
  • GC01M109247
  • GC01M109444
  • GC01M109857
  • GC01M109947
  • GC01M110145
  • GC01M108038

Summaries for GNAT2 Gene

Entrez Gene Summary for GNAT2 Gene

  • Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008]

GeneCards Summary for GNAT2 Gene

GNAT2 (G Protein Subunit Alpha Transducin 2) is a Protein Coding gene. Diseases associated with GNAT2 include Achromatopsia 4 and Achromatopsia. Among its related pathways are ERK Signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete signal transducer activity. An important paralog of this gene is GNAT1.

UniProtKB/Swiss-Prot Summary for GNAT2 Gene

  • Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase.

Tocris Summary for GNAT2 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 GNAT2 Gene

Additional gene information for GNAT2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GNAT2 Gene

Genomics for GNAT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for GNAT2 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
GH01J109615 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 -0.6 -595 10.1 CHD2 TBP SP1 MXD4 CEBPA MNT IKZF1 SMAD5 IRF2 HES1 AMPD2 GNAT2 HSALNG0005905 HSALNG0005906 ENSG00000258634 STRIP1 GNAI3 AMIGO1 PSRC1 PRPF38B
GH01J109614 Promoter 0.3 EPDnew 250.4 +6.8 6826 0.1 HSALNG0005903 GNAT2 AMPD2 GNAI3
GH01J109761 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 10.6 -145.0 -145002 6.1 IKZF1 ZFP64 MCM7 KDM6A THAP11 CEBPB ZNF395 VEZF1 SMAD4 SAP130 EPS8L3 lnc-GSTM3-4 piR-30350-006 GSTM3 AHCYL1 ENSG00000228703 AMPD2 ENSG00000254942 GPR61 GNAT2
GH01J109640 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.1 -21.9 -21872 5.6 ZBTB10 DEK ZNF217 CTCF BHLHE40 ZEB1 NONO ZIC2 ARNT REST GSTM4 GSTM3 GNAT2 AMPD2 GNAI3 MIR197 ENSG00000225113 RNU6V GSTM2 GSTM1
GH01J109584 Enhancer 0.7 Ensembl 12.1 +34.4 34428 1.4 CEBPA SMAD4 SAP130 RXRA RARA TEAD3 JUND SOX5 HMG20A HNF4A AMPD2 GNAT2 ENSG00000228703 ENSG00000254942 GPR61 CYB561D1 GSTM4 RF00026-061 RNU6V GNAI3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNAT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GNAT2

Top Transcription factor binding sites by QIAGEN in the GNAT2 gene promoter:
  • AP-4
  • AREB6
  • Bach2
  • C/EBPalpha
  • CP2
  • Egr-3
  • Pbx1a
  • SRF
  • SRF (504 AA)
  • ZID

Genomic Locations for GNAT2 Gene

Latest Assembly
chr1:109,603,091-109,619,929
(GRCh38/hg38)
Size:
16,839 bases
Orientation:
Minus strand

Previous Assembly
chr1:110,145,713-110,162,238
(GRCh37/hg19 by Entrez Gene)
Size:
16,526 bases
Orientation:
Minus strand

chr1:110,145,889-110,155,679
(GRCh37/hg19 by Ensembl)
Size:
9,791 bases
Orientation:
Minus strand

Genomic View for GNAT2 Gene

Genes around GNAT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNAT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNAT2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GNAT2 Gene

Proteins for GNAT2 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for GNAT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19087-GNAT2_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(t) subunit alpha-2
    Protein Accession:
    P19087

    Protein attributes for GNAT2 Gene

    Size:
    354 amino acids
    Molecular mass:
    40176 Da
    Quaternary structure:
    • G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site.

    Three dimensional structures from OCA and Proteopedia for GNAT2 Gene

neXtProt entry for GNAT2 Gene

Protein Expression for GNAT2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GNAT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GNAT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GNAT2 Gene

Domains & Families for GNAT2 Gene

Gene Families for GNAT2 Gene

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

Protein Domains for GNAT2 Gene

InterPro:
Blocks:
  • Alpha G-protein (transducin) signature
  • G-protein alpha subunit group I signature
ProtoNet:

Suggested Antigen Peptide Sequences for GNAT2 Gene

GenScript: Design optimal peptide antigens:
  • Transducin alpha-2 chain (GNAT2_HUMAN)
  • Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2, isoform CRA_a (Q5T697_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P19087

UniProtKB/Swiss-Prot:

GNAT2_HUMAN :
  • Belongs to the G-alpha family. G(i/o/t/z) subfamily.
Family:
  • Belongs to the G-alpha family. G(i/o/t/z) subfamily.
genes like me logo Genes that share domains with GNAT2: view

Function for GNAT2 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for GNAT2 Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase.
GENATLAS Biochemistry:
guanine nucleotide binding protein (G protein),alpha transducin,retinal cone cells

Phenotypes From GWAS Catalog for GNAT2 Gene

Gene Ontology (GO) - Molecular Function for GNAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001664 G protein-coupled receptor binding IBA 21873635
GO:0003924 GTPase activity IEA,IBA 21873635
GO:0005525 GTP binding NAS 1936270
GO:0008020 G protein-coupled photoreceptor activity NAS 2534964
genes like me logo Genes that share ontologies with GNAT2: view
genes like me logo Genes that share phenotypes with GNAT2: view

Human Phenotype Ontology for GNAT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

miRNA for GNAT2 Gene

miRTarBase miRNAs that target GNAT2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNAT2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GNAT2 Gene

Localization for GNAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNAT2 Gene

Cell projection, cilium, photoreceptor outer segment. Photoreceptor inner segment. Note=Localizes mainly in the outer segment in the dark-adapted state, whereas is translocated to the inner part of the photoreceptors in the light-adapted state. During dark-adapted conditions, in the presence of UNC119 mislocalizes from the outer segment to the inner part of rod photoreceptors which leads to decreased photoreceptor damage caused by light. {ECO:0000250 UniProtKB:P50149}.

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 GNAT2 gene
Compartment Confidence
plasma membrane 4
cytosol 3
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for GNAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IBA,ISS --
GO:0001917 photoreceptor inner segment IBA,IDA 2534964
GO:0005834 heterotrimeric G-protein complex NAS 1936270
GO:0005886 plasma membrane TAS --
GO:0042622 photoreceptor outer segment membrane ISS --
genes like me logo Genes that share ontologies with GNAT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GNAT2 Gene

Pathways & Interactions for GNAT2 Gene

PathCards logo

SuperPathways for GNAT2 Gene

SuperPathway Contained pathways
1 G-Beta Gamma Signaling
G-Beta Gamma Signaling
.46
GHRH Signaling
.46
CRHR Pathway
.44
Relaxin Pathway
.37
Hedgehog Signaling in Mammals
.32
2 CREB Pathway
CREB Pathway
.68
IP3 Pathway
.68
Activation of PKC through GPCR
.63
Intracellular Calcium Signaling
.50
3 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
4 Activation of cAMP-Dependent PKA
cAMP Pathway
.77
Activation of PKA through GPCR
.71
PKA Signaling
.56
5 Signaling by GPCR
GPCR downstream signaling
.76
Signaling by GPCR
.76
Signal Transduction
.52
genes like me logo Genes that share pathways with GNAT2: view

Pathways by source for GNAT2 Gene

1 BioSystems pathway for GNAT2 Gene
1 KEGG pathway for GNAT2 Gene
35 Qiagen pathways for GNAT2 Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

SIGNOR curated interactions for GNAT2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GNAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste IBA 21873635
GO:0006457 protein folding TAS --
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway IEA,NAS 2534964
GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA 21873635
genes like me logo Genes that share ontologies with GNAT2: view

Drugs & Compounds for GNAT2 Gene

Products:

  1. Drug products for research

(4) Drugs for GNAT2 Gene - From: HMDB and Novoseek

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 GNAT2 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 GNAT2 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 GNAT2: view

Transcripts for GNAT2 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for GNAT2 Gene

3 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNAT2

Alternative Splicing Database (ASD) splice patterns (SP) for GNAT2 Gene

No ASD Table

Relevant External Links for GNAT2 Gene

GeneLoc Exon Structure for
GNAT2

Expression for GNAT2 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GNAT2 Gene

mRNA expression in normal human tissues for GNAT2 Gene
mRNA expression by BioGPS for GNAT2 GenemRNA expression by GTEx for GNAT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GNAT2 Gene

This gene is overexpressed in Testis (x9.1) and Whole Blood (x5.7).

Protein differential expression in normal tissues from HIPED for GNAT2 Gene

This gene is overexpressed in Retina (48.3), Brain (12.4), and Lung (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GNAT2 Gene



Protein tissue co-expression partners for GNAT2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GNAT2

SOURCE GeneReport for Unigene cluster for GNAT2 Gene:

Hs.36973

mRNA Expression by UniProt/SwissProt for GNAT2 Gene:

P19087-GNAT2_HUMAN
Tissue specificity: Retinal rod outer segment.

Evidence on tissue expression from TISSUES for GNAT2 Gene

  • Eye(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GNAT2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with GNAT2: view

Orthologs for GNAT2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GNAT2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia GNAT2 30 31
  • 100 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GNAT2 30 31
  • 93.22 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia GNAT2 31
  • 93 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia GNAT2 30 31
  • 92.84 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Gnat2 30 17 31
  • 89.55 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Gnat2 30
  • 88.79 (n)
Chicken
(Gallus gallus)
 Aves GNAT2 30 31
  • 81.07 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia GNAT2 31
  • 91 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100216126 30
  • 78.53 (n)
Str.15316 30
Zebrafish
(Danio rerio)
 Actinopterygii gnat2 30 31
  • 75.24 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta G-ialpha65A 32
  • 64 (a)
G-oalpha47A 31
  • 58 (a)
 OneToMany
Galpha73B 32
  • 37 (a)
Worm
(Caenorhabditis elegans)
 Secernentea goa-1 31
  • 58 (a)
 OneToMany
gpa-4 32
  • 50 (a)
gpa-7 32
  • 49 (a)
odr-3 32
  • 48 (a)
gpa-3 32
  • 48 (a)
gpa-1 32
  • 43 (a)
gpa-2 32
  • 42 (a)
gpa-8 32
  • 41 (a)
gpa-15 32
  • 40 (a)
gpa-9 32
  • 38 (a)
gpa-11 32
  • 38 (a)
gpa-6 32
  • 37 (a)
gpa-10 32
  • 35 (a)
Rice
(Oryza sativa)
 Liliopsida Os.11635 30
Species where no ortholog for GNAT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 GNAT2 Gene

ENSEMBL:
Gene Tree for GNAT2 (if available)
TreeFam:
Gene Tree for GNAT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GNAT2: view image

Paralogs for GNAT2 Gene

Paralogs for GNAT2 Gene

(19) SIMAP similar genes for GNAT2 Gene using alignment to 2 proteins:

  • GNAT2_HUMAN
  • Q5T697_HUMAN

Pseudogenes.org Pseudogenes for GNAT2 Gene

genes like me logo Genes that share paralogs with GNAT2: view

Variants for GNAT2 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GNAT2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
623272 Pathogenic: Achromatopsia 4 109,607,656(-) A/AAATTGTGGTGTAT
NM_001377295.2(GNAT2):c.303+365_461+974dup 		SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR
623273 Pathogenic: Achromatopsia 4 109,607,656(-) AAATTGTGGTGTATTA
NM_005272.4(GNAT2):c.303+365_461+974del 		SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR
837652 Uncertain Significance: not provided 109,606,348(-) T/C
NM_005272.5(GNAT2):c.550A>G (p.Ile184Val) 		MISSENSE
841688 Uncertain Significance: not provided 109,606,365(-) C/T
NM_005272.5(GNAT2):c.533G>A (p.Arg178Lys) 		MISSENSE
847548 Uncertain Significance: not provided 109,612,809(-) T/C
NM_005272.5(GNAT2):c.62A>G (p.Lys21Arg) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GNAT2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GNAT2 Gene

Variant ID Type Subtype PubMed ID
nsv2299 CNV deletion 18451855
nsv510951 OTHER complex 20534489

Variation tolerance for GNAT2 Gene

Residual Variation Intolerance Score: 53.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.48; 71.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GNAT2 Gene

Human Gene Mutation Database (HGMD)
GNAT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNAT2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNAT2 Gene

Disorders for GNAT2 Gene

MalaCards: The human disease database

(33) MalaCards diseases for GNAT2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
achromatopsia 4
  • achm4
achromatopsia
  • achm
cone dystrophy
  • retinal cone dystrophy
cone-rod dystrophy 6
  • cord6
eye disease
  • abnormality of the eye
- elite association - COSMIC cancer census association via MalaCards
Search GNAT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNAT2_HUMAN
  • Achromatopsia 4 (ACHM4) [MIM:613856]: An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. {ECO:0000269 PubMed:12077706}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GNAT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GNAT2: view

No data available for Genatlas for GNAT2 Gene

Publications for GNAT2 Gene

  1. Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2). (PMID: 8406495) Morris TA … Fong SL (Genomics 1993) 2 3 4 23
  2. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. (PMID: 19592100) Thiadens AA … Klaver CC (Ophthalmology 2009) 3 23 41
  3. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. (PMID: 12077706) Kohl S … Wissinger B (American journal of human genetics 2002) 3 4 74
  4. Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin alpha subunit. (PMID: 1936270) Kubo M … Kakinuma M (FEBS letters 1991) 3 4 23
  5. Genome-wide association study of recurrent early-onset major depressive disorder. (PMID: 20125088) Shi J … Levinson DF (Molecular psychiatry 2011) 3 41

ExternalLinks

View latest publications for GNAT2 gene in Mastermind

Products for GNAT2 Gene

Sources for GNAT2 Gene