Human Gene CHRNB4 (ENST00000261751.8) from GENCODE V49
Description: cholinergic receptor nicotinic beta 4 subunit, transcript variant 1 (from RefSeq NM_000750.5)
Gencode Transcript: ENST00000261751.8
Gencode Gene: ENSG00000117971.13
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
Data last updated at UCSC: 2025-09-17 13:57:07
Sequence and Links to Tools and Databases
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
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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
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.
Gene Ontology (GO) Annotations with Structured Vocabulary
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: A4FTX5, ACHB4_HUMAN, E9PHE8, 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.3UCSC ID: ENST00000261751.8RefSeq Accession: NM_000750.5
Protein: P30926
(aka ACHB4_HUMAN or ACHP_HUMAN)
CCDS: CCDS10306.1
Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.