Details for: GAD2

Gene ID: 2572

Symbol: GAD2

Ensembl ID: ENSG00000136750

Description: glutamate decarboxylase 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: erythrocyte (CL0000232)
    Fold Change: 7.94
    Marker Score: 4398
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 4.65
    Marker Score: 2448
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 3.1
    Marker Score: 14337
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.68
    Marker Score: 40038
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 2.47
    Marker Score: 1034
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.45
    Marker Score: 18797
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 2.44
    Marker Score: 10176
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.33
    Marker Score: 86132
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.29
    Marker Score: 45486.5
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 2.23
    Marker Score: 1156
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.03
    Marker Score: 7835
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2
    Marker Score: 1989
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.96
    Marker Score: 3985
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 1.92
    Marker Score: 1270
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.87
    Marker Score: 71018
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.76
    Marker Score: 1969.5
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1167
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.47
    Marker Score: 592
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.45
    Marker Score: 559
  • Cell Name: PP cell (CL0000696)
    Fold Change: 1.41
    Marker Score: 318
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 854
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.26
    Marker Score: 42593
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.24
    Marker Score: 2356
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4804
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.13
    Marker Score: 7488
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.11
    Marker Score: 2263
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.09
    Marker Score: 503
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.05
    Marker Score: 435.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71808
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48032.5
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 509
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 463
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5348
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 374.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.91
    Marker Score: 1890
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 328
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5289
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.79
    Marker Score: 359
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1262
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 707
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.77
    Marker Score: 3139
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 463
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.71
    Marker Score: 414
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.69
    Marker Score: 417
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.64
    Marker Score: 9990
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.64
    Marker Score: 362
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: 0.62
    Marker Score: 1011
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.57
    Marker Score: 559
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 174
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.5
    Marker Score: 264
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 0.49
    Marker Score: 106
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.43
    Marker Score: 431
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.43
    Marker Score: 433
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.43
    Marker Score: 4407.5
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.43
    Marker Score: 203
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.41
    Marker Score: 178
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.41
    Marker Score: 1580
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.4
    Marker Score: 227
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.39
    Marker Score: 366
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.37
    Marker Score: 118
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.37
    Marker Score: 167
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.37
    Marker Score: 353
  • Cell Name: type I enteroendocrine cell (CL0002277)
    Fold Change: 0.37
    Marker Score: 91
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.36
    Marker Score: 1047
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.36
    Marker Score: 93
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.35
    Marker Score: 270
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.34
    Marker Score: 409
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.33
    Marker Score: 128.5
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.32
    Marker Score: 112
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.3
    Marker Score: 552
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.28
    Marker Score: 239
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.27
    Marker Score: 112
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.27
    Marker Score: 328
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.26
    Marker Score: 115
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.25
    Marker Score: 74
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.23
    Marker Score: 138.5
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.23
    Marker Score: 218
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.22
    Marker Score: 244
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 75
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.22
    Marker Score: 240
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.21
    Marker Score: 185
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.21
    Marker Score: 294
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 0.21
    Marker Score: 60
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.21
    Marker Score: 494
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.21
    Marker Score: 67
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.21
    Marker Score: 219
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.2
    Marker Score: 211
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.2
    Marker Score: 835
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.19
    Marker Score: 124
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.19
    Marker Score: 41
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.18
    Marker Score: 43
  • Cell Name: type D enteroendocrine cell (CL0000502)
    Fold Change: 0.18
    Marker Score: 56
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: 0.18
    Marker Score: 572
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 43

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Other Information

**Key characteristics:** * The GAD2 gene is located on chromosome 15q21.2. * It is a large gene with a total length of approximately 2.6 million base pairs. * It contains 14 exons and 13 introns. * The protein encoded by the GAD2 gene is a transmembrane protein with a molecular weight of approximately 65 kDa. **Pathways and functions:** * The GAD2 gene is involved in multiple pathways and functions, including: * Chemical synaptic transmission: GABA is released from presynaptic terminals onto postsynaptic neurons, where it binds to receptors and triggers synaptic transmission. * Gaba synthesis: The GAD2 gene is also involved in the synthesis of GABA. * Gaba synthesis, release, reuptake, and degradation: The GAD2 gene is a key enzyme in the synthesis, release, reuptake, and degradation of GABA in the synaptic cleft. * Gamma-aminobutyric acid biosynthetic process: The GAD2 gene is involved in the biosynthesis of GABA from glutamate, a neurotransmitter released by presynaptic neurons. **Clinical significance:** * Mutations in the GAD2 gene have been linked to several neurological and psychiatric disorders, including autism, schizophrenia, and epilepsy. * In particular, mutations in GAD2 have been shown to be associated with an increased risk of developing autism. * Therefore, understanding the function of the GAD2 gene is important for the development of novel therapeutic strategies for these disorders. **Additional notes:** * The GAD2 gene is also involved in the regulation of gene expression through methylation and microRNA binding. * It is a highly conserved gene with a similar sequence in mammals. * The GAD2 gene has been extensively studied, and it is a well-established target for therapeutic intervention in neurological and psychiatric disorders.

Genular Protein ID: 1965744245

Symbol: DCE2_HUMAN

Name: 65 kDa glutamic acid decarboxylase

UniProtKB Accession Codes:

Q05329 Q9UD87

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 5 ChEMBL 1 ChiTaRS 1 ComplexPortal 2 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 5 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 19 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 2 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 2 Rhea 2 SABIO-RK 1 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1924293

Title: Cloning and primary structure of a human islet isoform of glutamic acid decarboxylase from chromosome 10.

PubMed ID: 1924293

DOI: 10.1073/pnas.88.19.8337

PubMed ID: 1549570

Title: Two human glutamate decarboxylases, 65-kDa GAD and 67-kDa GAD, are each encoded by a single gene.

PubMed ID: 1549570

DOI: 10.1073/pnas.89.6.2115

PubMed ID: 8088791

Title: The exon-intron organization of the genes (GAD1 and GAD2) encoding two human glutamate decarboxylases (GAD67 and GAD65) suggests that they derive from a common ancestral GAD.

PubMed ID: 8088791

DOI: 10.1006/geno.1994.1246

PubMed ID: 7680313

Title: Characterization of a linear epitope within the human pancreatic 64-kDa glutamic acid decarboxylase and its autoimmune recognition by sera from insulin-dependent diabetes mellitus patients.

PubMed ID: 7680313

DOI: 10.1111/j.1432-1033.1993.tb17698.x

PubMed ID: 8243826

Title: Differential expression of GAD65 and GAD67 in human, rat, and mouse pancreatic islets.

PubMed ID: 8243826

DOI: 10.2337/diab.42.12.1799

PubMed ID: 8999827

Title: Phosphorylation of serine residues 3, 6, 10, and 13 distinguishes membrane anchored from soluble glutamic acid decarboxylase 65 and is restricted to glutamic acid decarboxylase 65alpha.

PubMed ID: 8999827

DOI: 10.1074/jbc.272.3.1548

PubMed ID: 12356867

Title: A combination of three distinct trafficking signals mediates axonal targeting and presynaptic clustering of GAD65.

PubMed ID: 12356867

DOI: 10.1083/jcb.200205053

PubMed ID: 10775108

Title: A structural framework for deciphering the link between I-Ag7 and autoimmune diabetes.

PubMed ID: 10775108

DOI: 10.1126/science.288.5465.505

PubMed ID: 17384644

Title: GABA production by glutamic acid decarboxylase is regulated by a dynamic catalytic loop.

PubMed ID: 17384644

DOI: 10.1038/nsmb1228

Sequence Information:

  • Length: 585
  • Mass: 65411
  • Checksum: 0322509F0E2C32EE
  • Sequence:
    • MASPGSGFWS FGSEDGSGDS ENPGTARAWC QVAQKFTGGI GNKLCALLYG DAEKPAESGG 
SQPPRAAARK AACACDQKPC SCSKVDVNYA FLHATDLLPA CDGERPTLAF LQDVMNILLQ 
YVVKSFDRST KVIDFHYPNE LLQEYNWELA DQPQNLEEIL MHCQTTLKYA IKTGHPRYFN 
QLSTGLDMVG LAADWLTSTA NTNMFTYEIA PVFVLLEYVT LKKMREIIGW PGGSGDGIFS 
PGGAISNMYA MMIARFKMFP EVKEKGMAAL PRLIAFTSEH SHFSLKKGAA ALGIGTDSVI 
LIKCDERGKM IPSDLERRIL EAKQKGFVPF LVSATAGTTV YGAFDPLLAV ADICKKYKIW 
MHVDAAWGGG LLMSRKHKWK LSGVERANSV TWNPHKMMGV PLQCSALLVR EEGLMQNCNQ 
MHASYLFQQD KHYDLSYDTG DKALQCGRHV DVFKLWLMWR AKGTTGFEAH VDKCLELAEY 
LYNIIKNREG YEMVFDGKPQ HTNVCFWYIP PSLRTLEDNE ERMSRLSKVA PVIKARMMEY 
GTTMVSYQPL GDKVNFFRMV ISNPAATHQD IDFLIEEIER LGQDL

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.