Details for: GABRA4

Gene ID: 2557

Symbol: GABRA4

Ensembl ID: ENSG00000109158

Description: gamma-aminobutyric acid type A receptor subunit alpha4

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: interneuron (CL0000099)
    Fold Change: 3.5
    Marker Score: 1598.5
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.46
    Marker Score: 2477
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 2.37
    Marker Score: 3272
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 2.33
    Marker Score: 30974
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.23
    Marker Score: 33347
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.15
    Marker Score: 42797
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.09
    Marker Score: 77275
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.07
    Marker Score: 15900
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.87
    Marker Score: 7239
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.86
    Marker Score: 70530
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.81
    Marker Score: 111248
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.69
    Marker Score: 17495
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.62
    Marker Score: 15271
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.62
    Marker Score: 1175
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.59
    Marker Score: 15154
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.5
    Marker Score: 2322
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 168043
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 1.24
    Marker Score: 517
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.21
    Marker Score: 10430
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.2
    Marker Score: 2007
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.15
    Marker Score: 7674
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.01
    Marker Score: 4099
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71828
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48052
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1
    Marker Score: 513
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.99
    Marker Score: 467
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.95
    Marker Score: 14915
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 378
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5344
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 329
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.9
    Marker Score: 1871
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.9
    Marker Score: 2562
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.84
    Marker Score: 7094.5
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.83
    Marker Score: 3467
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.81
    Marker Score: 467
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 709
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 401
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 467
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.68
    Marker Score: 216
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.66
    Marker Score: 14781
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.64
    Marker Score: 508
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.63
    Marker Score: 1197
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.6
    Marker Score: 398
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.55
    Marker Score: 307
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.53
    Marker Score: 300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.53
    Marker Score: 218
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.52
    Marker Score: 272
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.5
    Marker Score: 2056
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.49
    Marker Score: 997
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.46
    Marker Score: 1919
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.41
    Marker Score: 8813
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.4
    Marker Score: 500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.4
    Marker Score: 272
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.38
    Marker Score: 330
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.38
    Marker Score: 228
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.36
    Marker Score: 189
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.34
    Marker Score: 108
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.31
    Marker Score: 564
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.27
    Marker Score: 207
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.24
    Marker Score: 326.5
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.23
    Marker Score: 2378
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.23
    Marker Score: 268
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.23
    Marker Score: 151
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 75
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.22
    Marker Score: 131
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.22
    Marker Score: 104
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.2
    Marker Score: 73
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.2
    Marker Score: 467.5
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.19
    Marker Score: 61
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.19
    Marker Score: 296
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.19
    Marker Score: 408
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.18
    Marker Score: 84
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.18
    Marker Score: 56
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.17
    Marker Score: 61
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.17
    Marker Score: 45
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.17
    Marker Score: 148
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.16
    Marker Score: 39
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.16
    Marker Score: 64
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.15
    Marker Score: 107
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.15
    Marker Score: 671
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.14
    Marker Score: 410
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.14
    Marker Score: 178
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.13
    Marker Score: 50
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.13
    Marker Score: 41
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.13
    Marker Score: 63
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.13
    Marker Score: 47
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.13
    Marker Score: 104
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.13
    Marker Score: 56
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.12
    Marker Score: 80.5
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.11
    Marker Score: 73
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.11
    Marker Score: 119
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.11
    Marker Score: 57
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.1
    Marker Score: 25
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.1
    Marker Score: 394

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** - The protein is a transmembrane protein with a molecular weight of approximately 140 kDa. - It is expressed in a variety of cell types, including interneurons, blood vessel endothelial cells, cardiac muscle cells, and neurons. - It is a ligand for the gamma-aminobutyric acid (GABA) receptor. - It is involved in the regulation of synaptic transmission by modulating the activity of the GABA receptor and the gabaergic postsynaptic signaling pathway. **Pathways and functions:** - The GABRA4 gene is involved in the regulation of synaptic transmission by modulating the activity of the GABA receptor. - The GABA receptor is a ligand for the GABRA4 protein, which is a GABA receptor subunit. - When the GABA receptor is activated by GABA, it triggers a cascade of intracellular events that ultimately lead to the inhibition of synaptic transmission. - The GABRA4 protein is a key regulator of the gabaergic postsynaptic signaling pathway, which is responsible for the inhibition of postsynaptic membrane potential. - The GABRA4 protein is also involved in the assembly of inhibitory synapses, which are synapses that inhibit neurotransmission. **Clinical significance:** - Mutations in the GABRA4 gene have been linked to a number of neurological disorders, including schizophrenia, autism, and epilepsy. - In these disorders, the GABRA4 protein is often mutated in a manner that leads to an increase in GABA receptor activity and a decrease in GABA receptor-mediated inhibition of synaptic transmission. - This leads to an overexcitation of the central nervous system and the development of neurological symptoms. - Therefore, targeting the GABRA4 gene is a promising therapeutic strategy for a variety of neurological disorders that are characterized by abnormal synaptic transmission.

Genular Protein ID: 260422789

Symbol: GBRA4_HUMAN

Name: Gamma-aminobutyric acid receptor subunit alpha-4

UniProtKB Accession Codes:

P48169 Q8IYR7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 84 DrugCentral 1 EMBL 6 EMDB 5 Ensembl 1 ExpressionAtlas 1 GO 18 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 5 PIR 1 PRINTS 4 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 3 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TopDownProteomics 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8719416

Title: Cloning and characterization of the human GABAA receptor alpha 4 subunit: identification of a unique diazepam-insensitive binding site.

PubMed ID: 8719416

DOI: 10.1016/0922-4106(95)90072-1

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 7607683

Title: Mapping of the alpha 4 subunit gene (GABRA4) to human chromosome 4 defines an alpha 2-alpha 4-beta 1-gamma 1 gene cluster: further evidence that modern GABAA receptor gene clusters are derived from an ancestral cluster.

PubMed ID: 7607683

DOI: 10.1016/0888-7543(95)80178-o

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 554
  • Mass: 61623
  • Checksum: B159F9934FB02390
  • Sequence:
    • MVSAKKVPAI ALSAGVSFAL LRFLCLAVCL NESPGQNQKE EKLCTENFTR ILDSLLDGYD 
NRLRPGFGGP VTEVKTDIYV TSFGPVSDVE MEYTMDVFFR QTWIDKRLKY DGPIEILRLN 
NMMVTKVWTP DTFFRNGKKS VSHNMTAPNK LFRIMRNGTI LYTMRLTISA ECPMRLVDFP 
MDGHACPLKF GSYAYPKSEM IYTWTKGPEK SVEVPKESSS LVQYDLIGQT VSSETIKSIT 
GEYIVMTVYF HLRRKMGYFM IQTYIPCIMT VILSQVSFWI NKESVPARTV FGITTVLTMT 
TLSISARHSL PKVSYATAMD WFIAVCFAFV FSALIEFAAV NYFTNIQMEK AKRKTSKPPQ 
EVPAAPVQRE KHPEAPLQNT NANLNMRKRT NALVHSESDV GNRTEVGNHS SKSSTVVQES 
SKGTPRSYLA SSPNPFSRAN AAETISAARA LPSASPTSIR TGYMPRKASV GSASTRHVFG 
SRLQRIKTTV NTIGATGKLS ATPPPSAPPP SGSGTSKIDK YARILFPVTF GAFNMVYWVV 
YLSKDTMEKS ESLM

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.