Details for: CHRNB4

Gene ID: 1143

Symbol: CHRNB4

Ensembl ID: ENSG00000117971

Description: cholinergic receptor nicotinic beta 4 subunit

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: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 2.58
    Marker Score: 5331
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 1.67
    Marker Score: 1256
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1162
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.54
    Marker Score: 2917
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169401
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 1.37
    Marker Score: 572.5
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.25
    Marker Score: 848
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.16
    Marker Score: 481
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4803
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 1.13
    Marker Score: 9536
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.08
    Marker Score: 497
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.08
    Marker Score: 485
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.07
    Marker Score: 16734
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71814
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48038
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.98
    Marker Score: 619.5
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 503
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 457
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5348
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 369
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 321
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5289
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1257
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.77
    Marker Score: 244
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.77
    Marker Score: 1502
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 694
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 391
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.74
    Marker Score: 1499
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.71
    Marker Score: 457
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.71
    Marker Score: 372
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.71
    Marker Score: 539
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 176
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.64
    Marker Score: 421.5
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.62
    Marker Score: 209
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.6
    Marker Score: 378
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.58
    Marker Score: 338
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.57
    Marker Score: 640
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.56
    Marker Score: 333
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 147
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.55
    Marker Score: 259.5
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.54
    Marker Score: 171
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.5
    Marker Score: 1179
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.48
    Marker Score: 254
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.48
    Marker Score: 228
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.47
    Marker Score: 281.5
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.46
    Marker Score: 224
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.46
    Marker Score: 444
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.46
    Marker Score: 143
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.4
    Marker Score: 556
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.39
    Marker Score: 173
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.36
    Marker Score: 367
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.36
    Marker Score: 93
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.36
    Marker Score: 88
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.35
    Marker Score: 606
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.31
    Marker Score: 101
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.27
    Marker Score: 145
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.27
    Marker Score: 153
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.27
    Marker Score: 250
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.26
    Marker Score: 283
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.26
    Marker Score: 102
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.26
    Marker Score: 117
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.25
    Marker Score: 147
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.25
    Marker Score: 249
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.25
    Marker Score: 714
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.25
    Marker Score: 89
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.23
    Marker Score: 261
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.23
    Marker Score: 159
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.23
    Marker Score: 136
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.22
    Marker Score: 89
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.22
    Marker Score: 274
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.22
    Marker Score: 126
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.21
    Marker Score: 189
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.21
    Marker Score: 145
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.2
    Marker Score: 140
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.2
    Marker Score: 349
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.2
    Marker Score: 243
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.2
    Marker Score: 74
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.2
    Marker Score: 169
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.19
    Marker Score: 253
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.19
    Marker Score: 127
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.18
    Marker Score: 198
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.18
    Marker Score: 97
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.17
    Marker Score: 50
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 43
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.17
    Marker Score: 51
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.17
    Marker Score: 60
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.17
    Marker Score: 34
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.17
    Marker Score: 1695
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.17
    Marker Score: 60
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 0.16
    Marker Score: 53
  • Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
    Fold Change: 0.16
    Marker Score: 36
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.15
    Marker Score: 70
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.15
    Marker Score: 5144
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.14
    Marker Score: 138

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Other Information

**Key characteristics:** - The gene is located on chromosome 17q23.1. - It encodes a protein of 145 amino acids. - It is a member of the nicotinic acetylcholine receptor family. - It is expressed in high levels in the central nervous system, particularly in the brain and spinal cord. - It is also expressed in lower levels in immune cells, such as macrophages and neutrophils. **Pathways and functions:** - The CHRNB4 gene is involved in a variety of cellular processes, including: - Neurotransmission: The protein is a ligand-gated monoatomic ion channel that is expressed in the plasma membrane of nerve cells. It is a key component of the nicotinic acetylcholine receptor complex, which is responsible for the transmission of nerve impulses. - Immune responses: The protein is also expressed in immune cells, where it plays a role in the regulation of inflammation and immune responses. - Fluid balance: The protein is involved in the regulation of fluid balance in the body, and it is a key component of the kidney's water balance system. **Clinical significance:** - Mutations in the CHRNB4 gene have been linked to a number of human diseases, including: - Alzheimer's disease: Mutations in the CHRNB4 gene have been linked to the development of Alzheimer's disease, a neurodegenerative disorder that is characterized by memory loss and cognitive decline. - Parkinson's disease: Mutations in the CHRNB4 gene have also been linked to the development of Parkinson's disease, a neurodegenerative disorder that is characterized by tremors, rigidity, and postural instability. - Diabetic retinopathy: Mutations in the CHRNB4 gene have been linked to the development of diabetic retinopathy, a condition that is characterized by the damage of blood vessels in the retina.

Genular Protein ID: 1989280699

Symbol: ACHB4_HUMAN

Name: Neuronal acetylcholine receptor subunit beta-4

UniProtKB Accession Codes:

P30926 A4FTX5 E9PHE8 Q16607 Q4VBA5 Q8WXC8 Q9BQR4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChEMBL 7 ComplexPortal 5 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 10 DrugCentral 1 EMBL 22 EMDB 2 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 23 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 8 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 2 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 4 RefSeq 2 SAM 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8906617

Title: Comparative structure of human neuronal alpha 2-alpha 7 and beta 2-beta 4 nicotinic acetylcholine receptor subunits and functional expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and beta 4 subunits.

PubMed ID: 8906617

DOI: 10.1007/bf02736842

PubMed ID: 9203638

Title: 'Orphan' alpha6 nicotinic AChR subunit can form a functional heteromeric acetylcholine receptor.

PubMed ID: 9203638

DOI: 10.1124/mol.51.2.320

PubMed ID: 9009220

Title: Cloning and sequence of full-length cDNAs encoding the human neuronal nicotinic acetylcholine receptor (nAChR) subunits beta3 and beta4 and expression of seven nAChR subunits in the human neuroblastoma cell line SH-SY5Y and/or IMR-32.

PubMed ID: 9009220

DOI: 10.1016/s0014-5793(96)01383-x

PubMed ID: 11450844

Title: Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4.

PubMed ID: 11450844

DOI: 10.1007/pl00010921

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

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: 11742001

Title: Transcription factors NF-Y and Sp1 are important determinants of the promoter activity of the bovine and human neuronal nicotinic receptor beta 4 subunit genes.

PubMed ID: 11742001

DOI: 10.1074/jbc.m110454200

PubMed ID: 1330682

Title: Neuronal-type nicotinic receptors in human neuroblastoma and small-cell lung carcinoma cell lines.

PubMed ID: 1330682

DOI: 10.1016/0014-5793(92)81411-e

PubMed ID: 15609996

Title: Alpha-conotoxins ImI and ImII target distinct regions of the human alpha7 nicotinic acetylcholine receptor and distinguish human nicotinic receptor subtypes.

PubMed ID: 15609996

DOI: 10.1021/bi048918g

PubMed ID: 16120769

Title: RIC-3 enhances functional expression of multiple nicotinic acetylcholine receptor subtypes in mammalian cells.

PubMed ID: 16120769

DOI: 10.1124/mol.105.017459

PubMed ID: 27344019

Title: Functional interaction between Lypd6 and nicotinic acetylcholine receptors.

PubMed ID: 27344019

DOI: 10.1111/jnc.13718

Sequence Information:

  • Length: 498
  • Mass: 56380
  • Checksum: 0D48AB203F3FD03E
  • Sequence:
    • MRRAPSLVLF FLVALCGRGN CRVANAEEKL MDDLLNKTRY NNLIRPATSS SQLISIKLQL 
SLAQLISVNE REQIMTTNVW LKQEWTDYRL TWNSSRYEGV NILRIPAKRI WLPDIVLYNN 
ADGTYEVSVY TNLIVRSNGS VLWLPPAIYK SACKIEVKYF PFDQQNCTLK FRSWTYDHTE 
IDMVLMTPTA SMDDFTPSGE WDIVALPGRR TVNPQDPSYV DVTYDFIIKR KPLFYTINLI 
IPCVLTTLLA ILVFYLPSDC GEKMTLCISV LLALTFFLLL ISKIVPPTSL DVPLIGKYLM 
FTMVLVTFSI VTSVCVLNVH HRSPSTHTMA PWVKRCFLHK LPTFLFMKRP GPDSSPARAF 
PPSKSCVTKP EATATSTSPS NFYGNSMYFV NPASAASKSP AGSTPVAIPR DFWLRSSGRF 
RQDVQEALEG VSFIAQHMKN DDEDQSVVED WKYVAMVVDR LFLWVFMFVC VLGTVGLFLP 
PLFQTHAASE GPYAAQRD

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.