Gene GABRR2 - ENSG00000111886 | NCBI Gene ID: 2570

Details for: GABRR2

Gene ID: 2570

Symbol: GABRR2

Ensembl ID: ENSG00000111886

Description: gamma-aminobutyric acid type A receptor subunit rho2

Associated with

Gaba receptor activation
(R-HSA-977443)
Neuronal system
(R-HSA-112316)
Neurotransmitter receptors and postsynaptic signal transmission
(R-HSA-112314)
Transmission across chemical synapses
(R-HSA-112315)
Chemical synaptic transmission
(GO:0007268)
Chloride channel activity
(GO:0005254)
Chloride channel complex
(GO:0034707)
Chloride transmembrane transport
(GO:1902476)
Gaba-a receptor activity
(GO:0004890)
Gaba-a receptor complex
(GO:1902711)
Gaba-ergic synapse
(GO:0098982)
Gamma-aminobutyric acid signaling pathway
(GO:0007214)
Nervous system process
(GO:0050877)
Neuron projection
(GO:0043005)
Neurotransmitter receptor activity
(GO:0030594)
Plasma membrane
(GO:0005886)
Postsynaptic membrane
(GO:0045211)
Protein domain specific binding
(GO:0019904)
Regulation of membrane potential
(GO:0042391)
Regulation of postsynaptic membrane potential
(GO:0060078)
Signal transduction
(GO:0007165)
Synapse
(GO:0045202)
Transmembrane transporter complex
(GO:1902495)
Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential
(GO:1904315)
Visual perception
(GO:0007601)

Cells (max top 100)

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

Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
Fold Change: 2.18
Marker Score: 4514.5
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 2
Marker Score: 1993
Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.61
Marker Score: 1168
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 1.42
Marker Score: 2693
Cell Name: erythrocyte (CL0000232)
Fold Change: 1.4
Marker Score: 777
Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 1.37
Marker Score: 868
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 1.26
Marker Score: 853
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 1.17
Marker Score: 486
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 1.15
Marker Score: 4813
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 1.09
Marker Score: 502
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71825
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48050
Cell Name: hematopoietic stem cell (CL0000037)
Fold Change: 0.99
Marker Score: 523
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.99
Marker Score: 508
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30409
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.98
Marker Score: 461
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2413
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.94
Marker Score: 5352
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.93
Marker Score: 373
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: 326
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5288
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.83
Marker Score: 634.5
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.79
Marker Score: 12350
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: 0.76
Marker Score: 396
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 0.74
Marker Score: 1506
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.72
Marker Score: 461
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.71
Marker Score: 1674
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.7
Marker Score: 179
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.61
Marker Score: 401
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.56
Marker Score: 148
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: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.53
Marker Score: 167
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.52
Marker Score: 311
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.49
Marker Score: 233
Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 0.49
Marker Score: 203
Cell Name: epithelial cell of alveolus of lung (CL0010003)
Fold Change: 0.44
Marker Score: 199
Cell Name: goblet cell (CL0000160)
Fold Change: 0.44
Marker Score: 2899
Cell Name: rod bipolar cell (CL0000751)
Fold Change: 0.4
Marker Score: 207
Cell Name: prostate gland microvascular endothelial cell (CL2000059)
Fold Change: 0.38
Marker Score: 149
Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 0.36
Marker Score: 13820
Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.34
Marker Score: 109
Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.32
Marker Score: 83
Cell Name: fraction A pre-pro B cell (CL0002045)
Fold Change: 0.29
Marker Score: 293
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.28
Marker Score: 1697
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.26
Marker Score: 158
Cell Name: endothelial cell (CL0000115)
Fold Change: 0.24
Marker Score: 217
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.23
Marker Score: 65
Cell Name: megakaryocyte (CL0000556)
Fold Change: 0.22
Marker Score: 125
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.22
Marker Score: 74
Cell Name: mast cell (CL0000097)
Fold Change: 0.21
Marker Score: 120
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 0.21
Marker Score: 518
Cell Name: ciliated epithelial cell (CL0000067)
Fold Change: 0.18
Marker Score: 84
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 0.18
Marker Score: 472.5
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.17
Marker Score: 43
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.17
Marker Score: 725
Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.17
Marker Score: 76
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 0.17
Marker Score: 597
Cell Name: lymphocyte (CL0000542)
Fold Change: 0.16
Marker Score: 80
Cell Name: astrocyte (CL0000127)
Fold Change: 0.16
Marker Score: 135
Cell Name: retinal cone cell (CL0000573)
Fold Change: 0.16
Marker Score: 446
Cell Name: microglial cell (CL0000129)
Fold Change: 0.15
Marker Score: 268
Cell Name: leukocyte (CL0000738)
Fold Change: 0.15
Marker Score: 84
Cell Name: hepatocyte (CL0000182)
Fold Change: 0.15
Marker Score: 99
Cell Name: pro-B cell (CL0000826)
Fold Change: 0.14
Marker Score: 139
Cell Name: kidney interstitial fibroblast (CL1000692)
Fold Change: 0.14
Marker Score: 268
Cell Name: retina horizontal cell (CL0000745)
Fold Change: 0.14
Marker Score: 131
Cell Name: interneuron (CL0000099)
Fold Change: 0.13
Marker Score: 61
Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 0.13
Marker Score: 54
Cell Name: corneal endothelial cell (CL0000132)
Fold Change: 0.13
Marker Score: 75
Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
Fold Change: 0.13
Marker Score: 28
Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 0.13
Marker Score: 62
Cell Name: Bergmann glial cell (CL0000644)
Fold Change: 0.13
Marker Score: 52
Cell Name: luminal epithelial cell of mammary gland (CL0002326)
Fold Change: 0.13
Marker Score: 225
Cell Name: regular atrial cardiac myocyte (CL0002129)
Fold Change: 0.12
Marker Score: 435
Cell Name: lens fiber cell (CL0011004)
Fold Change: 0.12
Marker Score: 38
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 0.12
Marker Score: 912
Cell Name: A2 amacrine cell (CL0004219)
Fold Change: 0.11
Marker Score: 36
Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.11
Marker Score: 66
Cell Name: fast muscle cell (CL0000190)
Fold Change: 0.11
Marker Score: 34
Cell Name: dendritic cell (CL0000451)
Fold Change: 0.11
Marker Score: 77
Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: 0.11
Marker Score: 117
Cell Name: oligodendrocyte precursor cell (CL0002453)
Fold Change: 0.11
Marker Score: 135
Cell Name: endothelial cell of artery (CL1000413)
Fold Change: 0.11
Marker Score: 44
Cell Name: macrophage (CL0000235)
Fold Change: 0.11
Marker Score: 117
Cell Name: photoreceptor cell (CL0000210)
Fold Change: 0.1
Marker Score: 79
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: 0.1
Marker Score: 35
Cell Name: neutrophil (CL0000775)
Fold Change: 0.1
Marker Score: 62
Cell Name: melanocyte (CL0000148)
Fold Change: 0.1
Marker Score: 40
Cell Name: bronchial epithelial cell (CL0002328)
Fold Change: 0.1
Marker Score: 26
Cell Name: fibroblast (CL0000057)
Fold Change: 0.1
Marker Score: 93
Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 0.09
Marker Score: 109
Cell Name: mucus secreting cell (CL0000319)
Fold Change: 0.09
Marker Score: 24
Cell Name: endothelial cell of vascular tree (CL0002139)
Fold Change: 0.09
Marker Score: 136
Cell Name: plasmacytoid dendritic cell, human (CL0001058)
Fold Change: 0.09
Marker Score: 24
Cell Name: myeloid cell (CL0000763)
Fold Change: 0.09
Marker Score: 144
Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: 0.09
Marker Score: 1995

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**Key characteristics:** * The GABBR2 gene is located on chromosome 15q21.1. * It is a single-exon gene that encodes a protein of 146 amino acids. * The protein is a member of the GABA receptor family, which are ligand-gated ion channels that are involved in the transmission of inhibitory neurosignals in the central nervous system. **Pathways and functions:** * GABBR2 is a ligand-gated chloride channel that is expressed in a variety of cell types, including neurons, astrocytes, and endothelial cells. * When GABA binds to GABBR2, it opens chloride channels in the cell membrane, which allows chloride ions to flow out of the cell. * This causes a decrease in the membrane potential of the cell, which can lead to inhibition of neuronal activity. * GABA also binds to other GABA receptors, such as GABAA and GABAB, which can either activate or inhibit the chloride channel, depending on the specific GABA receptor. **Clinical significance:** * Mutations in the GABBR2 gene have been linked to a number of neurological and psychiatric disorders, including epilepsy, schizophrenia, and autism. * In particular, mutations in GABBR2 have been shown to be responsible for the development of certain types of epilepsy, such as Dravet syndrome and Lennox-Gastaut syndrome. * Drug therapies that target GABBRs are being investigated as potential treatments for these disorders. **Additional information:** * The GABBR2 gene is also expressed in the kidney, where it is involved in the regulation of blood pressure and the maintenance of fluid and electrolyte balance. * The protein encoded by GABBR2 is a key regulator of the chloride channel complex, which is a large protein that is responsible for the control of chloride flow in the cell. * The GABBR2 gene is also involved in the regulation of neuronal excitability and synaptic plasticity.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Gamma-aminobutyric acid receptor subunit rho-2
B4DER2_HUMAN

Genular Protein ID: 1026174237

Symbol: GBRR2_HUMAN

Name: Gamma-aminobutyric acid receptor subunit rho-2

UniProtKB Accession Codes:

P28476 A2BDE4 Q9H153

Database IDs:

Citations:

PubMed ID: 1315307

Title: Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4.

PubMed ID: 1315307

DOI: 10.1016/0888-7543(92)90312-g

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 465
Mass: 54151
Checksum: 209700077636A395
Sequence:

MPYFTRLILF LFCLMVLVES RKPKRKRWTG QVEMPKPSHL YKKNLDVTKI RKGKPQQLLR 
VDEHDFSMRP AFGGPAIPVG VDVQVESLDS ISEVDMDFTM TLYLRHYWKD ERLAFSSASN 
KSMTFDGRLV KKIWVPDVFF VHSKRSFTHD TTTDNIMLRV FPDGHVLYSM RITVTAMCNM 
DFSHFPLDSQ TCSLELESYA YTDEDLMLYW KNGDESLKTD EKISLSQFLI QKFHTTSRLA 
FYSSTGWYNR LYINFTLRRH IFFFLLQTYF PATLMVMLSW VSFWIDRRAV PARVSLGITT 
VLTMTTIITG VNASMPRVSY VKAVDIYLWV SFVFVFLSVL EYAAVNYLTT VQERKERKLR 
EKFPCMCGML HSKTMMLDGS YSESEANSLA GYPRSHILTE EERQDKIVVH LGLSGEANAA 
RKKGLLKGQT GFRIFQNTHA IDKYSRLIFP ASYIFFNLIY WSVFS

Genular Protein ID: 1151405162

Symbol: B4DER2_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DER2

Database IDs:

Sequence Information:

Length: 366
Mass: 42690
Checksum: 48BEC0340ABCF92F
Sequence:

MTLYLRHYWK DERLAFSSAS NKSMTFDGRL VKKIWVPDVF FVHSKRSFTH DTTTDNIMLR 
VFPDGHVLYS MRITVTAMCN MDFSHFPLDS QTCSLELESY AYTDEDLMLY WKNGDESLKT 
DEKISLSQFL IQKFHTTSRL AFYSSTGWYN RLYINFTLRR HIFFFLLQTY FPATLMVMLS 
WVSFWIDRRA VPARVSLGIT TVLTMTTIIT GVNASMPRVS YVKAVDIYLW VSFVFVFLSV 
LEYAAVNYLT TVQERKERKL REKFPCMCGM LHSKTMMLDG SYSESEANSL AGYPRSHILT 
EEERQDKIVV HLGLSGEANA ARKKGLLKGQ TGFRIFQNTH AIDKYSRLIF PASYIFFNLI 
YWSVFS

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.