Gene: Gad2

Basic information

Tag Content
Uniprot ID P48320; O35519;
Entrez ID 14417
Genbank protein ID AAH18380.1; BAA22893.1; AAA93049.1;
Genbank nucleotide ID NM_008078.2
Ensembl protein ID ENSMUSP00000028123
Ensembl nucleotide ID ENSMUSG00000026787
Gene name Glutamate decarboxylase 2
Gene symbol Gad2
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 10211762
Functional description Catalyzes the production of GABA.
Sequence
MASPGSGFWS FGSEDGSADP ENPGTARAWC QVAQKFTGGI GNKLCALLYG DSGKPAEGGG 60
SVTSRAATGK VACTCDQKPC NCPKGDVNYA FLHATDLLPA CDGERPTLAF LQDVMNILLQ 120
YVVKSFDRST KVIDFHYPNE LLQEYNWELA DQPQNLEEIL THCQTTLKYA IKTGHPRYFN 180
QLSTGLDMVG LAADWLTSTA NTNMFTYEIA PVFVLLEYVT LKKMREIIGW PGGSGDGIFS 240
PGGAISNMYA MLIARYKMFP EVKEKGMAAV PRLIAFTSEH SHFSLKKGAA ALGIGTDSVI 300
LIKCDERGKM IPSDLERRIL EVKQKGFVPF LVSATAGTTV YGAFDPLLAV ADICKKYKIW 360
MHVDAAWGGG LLMSRKHKWK LSGVERANSV TWNPHKMMGV PLQCSALLVR EEGLMQSCNQ 420
MHASYLFQQD KHYDLSYDTG DKALQCGRHV DVFKLWLMWR AKGTTGFEAH IDKCLELAEY 480
LYTIIKNREG YEMVFDGKPQ HTNVCFWFVP PSLRTLEDNE ERMSRLSKVA PVIKARMMEY 540
GTTMVSYQPL GDKVNFFRMV ISNPAATHQD IDFLIEEIER LGQDL 585

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologGAD2512459F1N6X2Bos taurusPredictionMore>>
1:1 orthologGAD2F1PV66Canis lupus familiarisPredictionMore>>
1:1 orthologGAD2102178638A0A452FGS2Capra hircusPredictionMore>>
1:1 orthologGAD2100055419F7D4X1Equus caballusPredictionMore>>
1:1 orthologGAD22572Q05329Homo sapiensPredictionMore>>
1:1 orthologGad214417P48320CPOMus musculusPublicationMore>>
1:1 orthologGAD2H2Q1R2Pan troglodytesPredictionMore>>
1:1 orthologGAD2A0A2C9F3C1Sus scrofaPredictionMore>>
1:1 orthologGAD2100339011G1TDS5Oryctolagus cuniculusPredictionMore>>
1:1 orthologGad224380Q05683Rattus norvegicusPredictionMore>>
1:1 orthologgad2550403F1R9E8Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004351 glutamate decarboxylase activityISO
GO:0016595 glutamate bindingISO
GO:0030170 pyridoxal phosphate bindingISO
GO:0044877 protein-containing complex bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0006540 glutamate decarboxylation to succinateISO
GO:0042136 neurotransmitter biosynthetic processIEA
GO:0042493 response to drugIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0000139 Golgi membraneIEA
GO:0005737 cytoplasmIDA
GO:0005829 cytosolISO
GO:0030054 cell junctionIEA
GO:0030424 axonIDA
GO:0030672 synaptic vesicle membraneISO
GO:0031225 anchored component of membraneISO
GO:0031410 cytoplasmic vesicleISO
GO:0042734 presynaptic membraneIEA
GO:0045202 synapseIDA
GO:0048471 perinuclear region of cytoplasmISO
GO:0060077 inhibitory synapseISO
GO:0061202 clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneTAS

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-112310 Neurotransmitter release cycleIEA
R-MMU-112315 Transmission across Chemical SynapsesIEA
R-MMU-112316 Neuronal SystemIEA
R-MMU-888568 GABA synthesisIEA
R-MMU-888590 GABA synthesis, release, reuptake and degradationIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0965 Cell junction
KW-1003 Cell membrane
KW-0966 Cell projection
KW-0963 Cytoplasm
KW-0968 Cytoplasmic vesicle
KW-0210 Decarboxylase
KW-0333 Golgi apparatus
KW-0449 Lipoprotein
KW-0456 Lyase
KW-0472 Membrane
KW-0530 Neurotransmitter biosynthesis
KW-0564 Palmitate
KW-0597 Phosphoprotein
KW-0663 Pyridoxal phosphate
KW-1185 Reference proteome
KW-0770 Synapse

Interpro

InterPro ID InterPro Term
IPR002129 PyrdxlP-dep_de-COase
IPR015424 PyrdxlP-dep_Trfase
IPR015421 PyrdxlP-dep_Trfase_major
IPR021115 Pyridoxal-P_BS

PROSITE

PROSITE ID PROSITE Term
PS00392 DDC_GAD_HDC_YDC

Pfam

Pfam ID Pfam Term
PF00282 Pyridoxal_deC

Protein-protein interaction

Protein-miRNA interaction