Details for: GABRE

Gene ID: 2564

Symbol: GABRE

Ensembl ID: ENSG00000102287

Description: gamma-aminobutyric acid type A receptor subunit epsilon

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: subcutaneous fat cell (CL0002521)
    Fold Change: 3.03
    Marker Score: 1109
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.26
    Marker Score: 659
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.63
    Marker Score: 1336
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.47
    Marker Score: 823
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 1.34
    Marker Score: 326
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.29
    Marker Score: 1490
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.18
    Marker Score: 820
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.15
    Marker Score: 1298
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251794
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71811
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48036
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 500
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 454
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5291
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2738
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 318
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.88
    Marker Score: 2163.5
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5280
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1262
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.77
    Marker Score: 3202.5
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.76
    Marker Score: 200
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 389
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.74
    Marker Score: 672
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.73
    Marker Score: 339
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.71
    Marker Score: 546
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.7
    Marker Score: 282
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.7
    Marker Score: 1372
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 174
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2836
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.67
    Marker Score: 592
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.67
    Marker Score: 2617
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.63
    Marker Score: 1430
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.61
    Marker Score: 303
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.59
    Marker Score: 467
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.57
    Marker Score: 692.5
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.57
    Marker Score: 611
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.56
    Marker Score: 8831
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.56
    Marker Score: 375
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 439
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.55
    Marker Score: 805
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.54
    Marker Score: 12152
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.53
    Marker Score: 1020.5
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.52
    Marker Score: 703
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.52
    Marker Score: 150
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.52
    Marker Score: 539
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 0.51
    Marker Score: 179
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.5
    Marker Score: 374
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.49
    Marker Score: 6523
  • Cell Name: endothelial tip cell (CL0000704)
    Fold Change: 0.49
    Marker Score: 113
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.48
    Marker Score: 476
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.47
    Marker Score: 310
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.47
    Marker Score: 429
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.43
    Marker Score: 817.5
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.42
    Marker Score: 206
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.42
    Marker Score: 294
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.41
    Marker Score: 106
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.41
    Marker Score: 3493
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.4
    Marker Score: 176
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.4
    Marker Score: 418
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.4
    Marker Score: 80
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 0.39
    Marker Score: 474
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.39
    Marker Score: 146
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.39
    Marker Score: 265
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.39
    Marker Score: 1440
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.38
    Marker Score: 325
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.37
    Marker Score: 429
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.36
    Marker Score: 90
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.36
    Marker Score: 2690
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.36
    Marker Score: 631
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.36
    Marker Score: 877
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 0.36
    Marker Score: 198
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.35
    Marker Score: 102
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.35
    Marker Score: 93
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.35
    Marker Score: 157
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.35
    Marker Score: 130
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.34
    Marker Score: 109
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.34
    Marker Score: 77
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.34
    Marker Score: 179
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.33
    Marker Score: 605
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.33
    Marker Score: 3713
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.33
    Marker Score: 318
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.33
    Marker Score: 133
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.33
    Marker Score: 203
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.32
    Marker Score: 289
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.32
    Marker Score: 1895
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.31
    Marker Score: 5042
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.31
    Marker Score: 398
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 0.3
    Marker Score: 220
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.29
    Marker Score: 923
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.29
    Marker Score: 186
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.29
    Marker Score: 2253
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.28
    Marker Score: 1484.5
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.28
    Marker Score: 297
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.27
    Marker Score: 134
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.27
    Marker Score: 480
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.26
    Marker Score: 89
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.26
    Marker Score: 82
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 0.26
    Marker Score: 108

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Other Information

**Key characteristics** * The GABRE gene is located on chromosome 15q21.1. * It is a large gene, encoding for a protein of 1,072 amino acids. * The protein is a member of the GABA receptor superfamily. * It is expressed in the central nervous system, the peripheral nervous system, and the endocrine system. * It is a key regulator of neuronal excitability. **Pathways and functions** * The GABRE gene is involved in a variety of cellular processes, including: * Inhibitory synapse assembly * Negative regulation of chloride transport * Nervous system process * Synaptic transmission * Gabaergic signaling pathway * It is also involved in the regulation of blood pressure and heart rate. **Clinical significance** * Mutations in the GABRE gene have been linked to a number of neurological and psychiatric disorders, including: * Epilepsy * Autism * Depression * Anxiety * Schizophrenia **Additional information** * The GABRE gene is a promising target for the treatment of neurological and psychiatric disorders. * There are a number of drugs that target the GABRE receptor, including levetiracetam and gabapentin. * These drugs are used to treat epilepsy and other neurological disorders.

Genular Protein ID: 1783315629

Symbol: GBRE_HUMAN

Name: Gamma-aminobutyric acid receptor subunit epsilon

UniProtKB Accession Codes:

P78334 E7ET93 O15345 O15346 Q6PCD2 Q99520

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 75 DrugCentral 1 EMBL 12 Ensembl 1 ExpressionAtlas 1 GO 15 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRINTS 3 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 1 SAM 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9039914

Title: Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit.

PubMed ID: 9039914

DOI: 10.1038/385820a0

PubMed ID: 9339354

Title: A gene in human chromosome band Xq28 (GABRE) defines a putative new subunit class of the GABAA neurotransmitter receptor.

PubMed ID: 9339354

DOI: 10.1006/geno.1997.4885

PubMed ID: 9084408

Title: An mRNA encoding a putative GABA-gated chloride channel is expressed in the human cardiac conduction system.

PubMed ID: 9084408

DOI: 10.1046/j.1471-4159.1997.68041382.x

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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

Sequence Information:

  • Length: 506
  • Mass: 57972
  • Checksum: 013EE136EECFCC73
  • Sequence:
    • MLSKVLPVLL GILLILQSRV EGPQTESKNE ASSRDVVYGP QPQPLENQLL SEETKSTETE 
TGSRVGKLPE ASRILNTILS NYDHKLRPGI GEKPTVVTVE ISVNSLGPLS ILDMEYTIDI 
IFSQTWYDER LCYNDTFESL VLNGNVVSQL WIPDTFFRNS KRTHEHEITM PNQMVRIYKD 
GKVLYTIRMT IDAGCSLHML RFPMDSHSCP LSFSSFSYPE NEMIYKWENF KLEINEKNSW 
KLFQFDFTGV SNKTEIITTP VGDFMVMTIF FNVSRRFGYV AFQNYVPSSV TTMLSWVSFW 
IKTESAPART SLGITSVLTM TTLGTFSRKN FPRVSYITAL DFYIAICFVF CFCALLEFAV 
LNFLIYNQTK AHASPKLRHP RINSRAHART RARSRACARQ HQEAFVCQIV TTEGSDGEER 
PSCSAQQPPS PGSPEGPRSL CSKLACCEWC KRFKKYFCMV PDCEGSTWQQ GRLCIHVYRL 
DNYSRVVFPV TFFFFNVLYW LVCLNL

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.