Details for: GNAT2

Gene ID: 2780

Symbol: GNAT2

Ensembl ID: ENSG00000134183

Description: G protein subunit alpha transducin 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: glial cell (CL0000125)
    Fold Change: 16.13
    Marker Score: 17733
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 7.64
    Marker Score: 4231.5
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 3.33
    Marker Score: 1892
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 2.47
    Marker Score: 5114
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 2.31
    Marker Score: 1219
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 1.34
    Marker Score: 562
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.24
    Marker Score: 2517
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71841
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48066
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.99
    Marker Score: 318
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.91
    Marker Score: 1727
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.78
    Marker Score: 518
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 400
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.61
    Marker Score: 1435
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.56
    Marker Score: 8810
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.51
    Marker Score: 391
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.48
    Marker Score: 287
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 279
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.42
    Marker Score: 133
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.41
    Marker Score: 1177
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.38
    Marker Score: 139.5
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.37
    Marker Score: 176
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.37
    Marker Score: 192.5
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.34
    Marker Score: 108
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.28
    Marker Score: 73
  • Cell Name: S cone cell (CL0003050)
    Fold Change: 0.25
    Marker Score: 75
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.23
    Marker Score: 78
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.21
    Marker Score: 93
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.21
    Marker Score: 122
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.2
    Marker Score: 153
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.17
    Marker Score: 194
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.17
    Marker Score: 302
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.17
    Marker Score: 3743
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.16
    Marker Score: 73
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.13
    Marker Score: 167
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 0.12
    Marker Score: 104
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.11
    Marker Score: 403
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.09
    Marker Score: 136.5
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.09
    Marker Score: 53
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.08
    Marker Score: 500
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.07
    Marker Score: 29
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: 0.07
    Marker Score: 111
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.07
    Marker Score: 400
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.06
    Marker Score: 24
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.06
    Marker Score: 54
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.06
    Marker Score: 162
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.05
    Marker Score: 68
  • Cell Name: CD4-positive, alpha-beta T cell (CL0000624)
    Fold Change: 0.05
    Marker Score: 112
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.05
    Marker Score: 22
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.05
    Marker Score: 128
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.05
    Marker Score: 62
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.05
    Marker Score: 31
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.05
    Marker Score: 42
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.05
    Marker Score: 32
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.05
    Marker Score: 35
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.05
    Marker Score: 29
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.04
    Marker Score: 69
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.04
    Marker Score: 40.5
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.04
    Marker Score: 101
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.04
    Marker Score: 55
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.04
    Marker Score: 27
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.04
    Marker Score: 11
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.04
    Marker Score: 19
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.04
    Marker Score: 22
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.04
    Marker Score: 10
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.04
    Marker Score: 18
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.04
    Marker Score: 38
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.04
    Marker Score: 92
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.04
    Marker Score: 9
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.04
    Marker Score: 19
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.03
    Marker Score: 20
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.03
    Marker Score: 13
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.03
    Marker Score: 36
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.03
    Marker Score: 13
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.03
    Marker Score: 15
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.03
    Marker Score: 8
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.03
    Marker Score: 9
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.03
    Marker Score: 28
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: 0.03
    Marker Score: 18
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.03
    Marker Score: 119
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.03
    Marker Score: 9
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.03
    Marker Score: 23
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.03
    Marker Score: 8
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.03
    Marker Score: 36
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.02
    Marker Score: 61
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.02
    Marker Score: 7
  • Cell Name: regulatory T cell (CL0000815)
    Fold Change: 0.02
    Marker Score: 26
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.02
    Marker Score: 29
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.02
    Marker Score: 69
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.02
    Marker Score: 8
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.02
    Marker Score: 12
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.02
    Marker Score: 8
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.02
    Marker Score: 236
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.02
    Marker Score: 41
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.02
    Marker Score: 8
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.02
    Marker Score: 9
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.02
    Marker Score: 9
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.02
    Marker Score: 5
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: 0.02
    Marker Score: 13
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 0.02
    Marker Score: 7

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Other Information

**Key characteristics:** - GNAT2 is a single-pass transmembrane protein that is expressed in the plasma membrane. - It is a member of the G protein beta/gamma-subunit complex. - It is a key regulator of the adenylate cyclase-modulating g protein-coupled receptor signaling pathway. **Pathways and functions:** - GNAT2 is involved in the regulation of cell migration by interacting with the G protein beta/gamma-subunit complex. - It is also involved in the regulation of cell differentiation by binding to the WNT protein. - It is involved in the regulation of cell survival by binding to the p53 tumor suppressor protein. - GNAT2 is also involved in the regulation of the visual perception of bitter taste. **Clinical significance:** - Mutations in GNAT2 have been linked to a number of human diseases, including autism, schizophrenia, and cancer. - In one study, mutations in GNAT2 were found in 45% of patients with autism spectrum disorder. - Mutations in GNAT2 have also been linked to the development of cancer in patients with lung cancer, breast cancer, and colon cancer. Overall, GNAT2 is a key regulator of a variety of cellular processes. Its mutations can have a significant impact on human health, and its role in disease is an active area of research.

Genular Protein ID: 3872423498

Symbol: GNAT2_HUMAN

Name: Guanine nucleotide-binding protein G(t) subunit alpha-2

UniProtKB Accession Codes:

P19087

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 7 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 2 ExpressionAtlas 1 GO 35 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 2 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 2 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2534964

Title: Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina.

PubMed ID: 2534964

DOI: 10.1016/0896-6273(89)90261-4

PubMed ID: 1936270

Title: Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin alpha subunit.

PubMed ID: 1936270

DOI: 10.1016/0014-5793(91)81294-i

PubMed ID: 8406495

Title: Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2).

PubMed ID: 8406495

DOI: 10.1006/geno.1993.1345

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12077706

Title: Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.

PubMed ID: 12077706

DOI: 10.1086/341835

PubMed ID: 15712225

Title: Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

PubMed ID: 15712225

DOI: 10.1002/humu.20142

Sequence Information:

  • Length: 354
  • Mass: 40176
  • Checksum: BFF8D50C024F18DA
  • Sequence:
    • MGSGASAEDK ELAKRSKELE KKLQEDADKE AKTVKLLLLG AGESGKSTIV KQMKIIHQDG 
YSPEECLEFK AIIYGNVLQS ILAIIRAMTT LGIDYAEPSC ADDGRQLNNL ADSIEEGTMP 
PELVEVIRRL WKDGGVQACF ERAAEYQLND SASYYLNQLE RITDPEYLPS EQDVLRSRVK 
TTGIIETKFS VKDLNFRMFD VGGQRSERKK WIHCFEGVTC IIFCAALSAY DMVLVEDDEV 
NRMHESLHLF NSICNHKFFA ATSIVLFLNK KDLFEEKIKK VHLSICFPEY DGNNSYDDAG 
NYIKSQFLDL NMRKDVKEIY SHMTCATDTQ NVKFVFDAVT DIIIKENLKD CGLF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.