Human Gene CHRNB4 (ENST00000261751.8) from GENCODE V44
  Description: Homo sapiens cholinergic receptor nicotinic beta 4 subunit (CHRNB4), transcript variant 1, mRNA. (from RefSeq NM_000750)
RefSeq Summary (NM_000750): This gene is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are pentameric structures that can be either homomeric or heteromeric, with heteromeric structures containing both alpha and beta subunits. Each subunit contains an extracellular amino terminus and four transmembrane domains. Nicotine is one of the agonists that binds to the receptor. Variants in this gene have been associated with nicotine dependence and lung cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017].
Gencode Transcript: ENST00000261751.8
Gencode Gene: ENSG00000117971.12
Transcript (Including UTRs)
   Position: hg38 chr15:78,624,111-78,641,210 Size: 17,100 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr15:78,625,133-78,641,133 Size: 16,001 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:78,624,111-78,641,210)mRNA (may differ from genome)Protein (498 aa)
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-  Comments and Description Text from UniProtKB
  ID: ACHB4_HUMAN
DESCRIPTION: RecName: Full=Neuronal acetylcholine receptor subunit beta-4; Flags: Precursor;
FUNCTION: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
SUBUNIT: Neuronal AChR is composed of two different types of subunits: alpha and beta. Beta-4 subunit can be combined to alpha- 2, alpha-3 or alpha-4 to give rise to functional receptors. Interacts with RIC3; which is required for proper folding and assembly.
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta- 4/CHRNB4 sub-subfamily.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CHRNB4
Diseases sorted by gene-association score: substance dependence (8), nicotine dependence, protection against (5), lung cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.62 RPKM in Testis
Total median expression: 6.80 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -36.8077-0.478 Picture PostScript Text
3' UTR -331.301022-0.324 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006202 - Neur_chan_lig-bd
IPR006201 - Neur_channel
IPR006029 - Neurotrans-gated_channel_TM
IPR018000 - Neurotransmitter_ion_chnl_CS
IPR002394 - Nicotinic_acetylcholine_rcpt

Pfam Domains:
PF02931 - Neurotransmitter-gated ion-channel ligand binding domain
PF02932 - Neurotransmitter-gated ion-channel transmembrane region

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2ASG - Model


ModBase Predicted Comparative 3D Structure on P30926
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004888 transmembrane signaling receptor activity
GO:0005216 ion channel activity
GO:0005230 extracellular ligand-gated ion channel activity
GO:0005515 protein binding
GO:0008144 drug binding
GO:0015276 ligand-gated ion channel activity
GO:0015464 acetylcholine receptor activity
GO:0022848 acetylcholine-gated cation-selective channel activity
GO:0042166 acetylcholine binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0001508 action potential
GO:0006811 ion transport
GO:0006939 smooth muscle contraction
GO:0006940 regulation of smooth muscle contraction
GO:0007165 signal transduction
GO:0007271 synaptic transmission, cholinergic
GO:0007626 locomotory behavior
GO:0034220 ion transmembrane transport
GO:0035094 response to nicotine
GO:0035095 behavioral response to nicotine
GO:0042391 regulation of membrane potential
GO:0043312 neutrophil degranulation
GO:0046928 regulation of neurotransmitter secretion
GO:0051291 protein heterooligomerization
GO:0051971 positive regulation of transmission of nerve impulse
GO:0060078 regulation of postsynaptic membrane potential
GO:0060079 excitatory postsynaptic potential
GO:0060084 synaptic transmission involved in micturition

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005892 acetylcholine-gated channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0035579 specific granule membrane
GO:0043005 neuron projection
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0070821 tertiary granule membrane


-  Descriptions from all associated GenBank mRNAs
  AK310443 - Homo sapiens cDNA, FLJ17485.
U48861 - Human beta 4 nicotinic acetylcholine receptor subunit mRNA, complete cds.
JD148801 - Sequence 129825 from Patent EP1572962.
JD108861 - Sequence 89885 from Patent EP1572962.
JD163621 - Sequence 144645 from Patent EP1572962.
JD164071 - Sequence 145095 from Patent EP1572962.
JD164070 - Sequence 145094 from Patent EP1572962.
JD374407 - Sequence 355431 from Patent EP1572962.
JD345558 - Sequence 326582 from Patent EP1572962.
JD284082 - Sequence 265106 from Patent EP1572962.
JD521225 - Sequence 502249 from Patent EP1572962.
JD353269 - Sequence 334293 from Patent EP1572962.
JD193263 - Sequence 174287 from Patent EP1572962.
U62439 - Human nicotinic acetylcholine receptor beta4 subunit precursor, mRNA, complete cds.
JD530932 - Sequence 511956 from Patent EP1572962.
JD327663 - Sequence 308687 from Patent EP1572962.
BC096080 - Homo sapiens cholinergic receptor, nicotinic, beta 4, mRNA (cDNA clone MGC:116718 IMAGE:40000733), complete cds.
BC096081 - Homo sapiens cholinergic receptor, nicotinic, beta 4, mRNA (cDNA clone IMAGE:40000736), partial cds.
BC096082 - Homo sapiens cholinergic receptor, nicotinic, beta 4, mRNA (cDNA clone MGC:116720 IMAGE:40000737), complete cds.
BC096083 - Homo sapiens cholinergic receptor, nicotinic, beta 4, mRNA (cDNA clone IMAGE:40000738), partial cds.
JD490055 - Sequence 471079 from Patent EP1572962.
JD221136 - Sequence 202160 from Patent EP1572962.
X68275 - H.sapiens mRNA for nicotinic receptor beta 4 subunit.
Y08416 - H.sapiens mRNA for nicotinic acetylcholine receptor beta4 subunit precursor.
KJ890916 - Synthetic construct Homo sapiens clone ccsbBroadEn_00310 CHRNB4 gene, encodes complete protein.
KR711747 - Synthetic construct Homo sapiens clone CCSBHm_00030749 CHRNB4 (CHRNB4) mRNA, encodes complete protein.
KR711748 - Synthetic construct Homo sapiens clone CCSBHm_00030750 CHRNB4 (CHRNB4) mRNA, encodes complete protein.
KR711749 - Synthetic construct Homo sapiens clone CCSBHm_00030751 CHRNB4 (CHRNB4) mRNA, encodes complete protein.
DQ588795 - Homo sapiens piRNA piR-55907, complete sequence.
DQ583701 - Homo sapiens piRNA piR-50813, complete sequence.
JD247153 - Sequence 228177 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction

Reactome (by CSHL, EBI, and GO)

Protein P30926 (Reactome details) participates in the following event(s):

R-HSA-6799350 Exocytosis of specific granule membrane proteins
R-HSA-6798747 Exocytosis of tertiary granule membrane proteins
R-HSA-622325 Activation of highly sodium permeable nicotinic acetylcholine receptors
R-HSA-629588 Binding of acetylcholine to highly sodium permeable acetylcholine receptors
R-HSA-622326 Activation of highly calcium permeable nicotinic acetylcholine receptors
R-HSA-629599 Binding of acetylcholine to highly calcium permeable acetylcholine receptors
R-HSA-629595 Activation of highly calcium permeable postsynaptic nicotinic acetylcholine receptors
R-HSA-629596 Binding of acetylcholine to highly calcium permeable postsynaptic nicotinic acetylcholine receptors
R-HSA-6798695 Neutrophil degranulation
R-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors
R-HSA-629597 Highly calcium permeable nicotinic acetylcholine receptors
R-HSA-168249 Innate Immune System
R-HSA-622323 Presynaptic nicotinic acetylcholine receptors
R-HSA-622327 Postsynaptic nicotinic acetylcholine receptors
R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
R-HSA-168256 Immune System
R-HSA-629602 Activation of Nicotinic Acetylcholine Receptors
R-HSA-181431 Acetylcholine binding and downstream events
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: ACHB4_HUMAN, ENST00000261751.1, ENST00000261751.2, ENST00000261751.3, ENST00000261751.4, ENST00000261751.5, ENST00000261751.6, ENST00000261751.7, NM_000750, P30926, Q16607, Q4VBA5, Q8WXC8, Q9BQR4, uc002bed.1, uc002bed.2, uc002bed.3
UCSC ID: ENST00000261751.8
RefSeq Accession: NM_000750
Protein: P30926 (aka ACHB4_HUMAN or ACHP_HUMAN)
CCDS: CCDS10306.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.