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CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 [ Homo sapiens (human) ]

Gene ID: 783, updated on 14-Nov-2024

Summary

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Official Symbol
CACNB2provided by HGNC
Official Full Name
calcium voltage-gated channel auxiliary subunit beta 2provided by HGNC
Primary source
HGNC:HGNC:1402
See related
Ensembl:ENSG00000165995 MIM:600003; AllianceGenome:HGNC:1402
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAB2; MYSB; CAVB2; CACNLB2
Summary
This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]
Expression
Ubiquitous expression in brain (RPKM 4.0), adrenal (RPKM 2.4) and 25 other tissues See more
Orthologs
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Genomic context

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See CACNB2 in Genome Data Viewer
Location:
10p12.33-p12.31
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (18140424..18543557)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (18159755..18562802)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (18429353..18832486)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902600 Neighboring gene mannose receptor C-type 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:18270087-18271286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3111 Neighboring gene solute carrier family 39 member 12 Neighboring gene SLC39A12 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:18324740-18325329 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:18325330-18325918 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:18355421-18356620 Neighboring gene MPRA-validated peak890 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr10:18424852-18425818 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_11486 Neighboring gene uncharacterized LOC107984213 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:18629448-18629653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3112 Neighboring gene uncharacterized LOC124902386 Neighboring gene uncharacterized LOC124902387 Neighboring gene NANOG hESC enhancer GRCh37_chr10:18841481-18841982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3113 Neighboring gene NOP2/Sun RNA methyltransferase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3116 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2184 Neighboring gene ARF like GTPase 5B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Epigenetic mechanism of L-type calcium channel beta-subunit downregulation in short QT human induced pluripotent stem cell-derived cardiomyocytes with CACNB2 mutation.
    Title: Epigenetic mechanism of L-type calcium channel β-subunit downregulation in short QT human induced pluripotent stem cell-derived cardiomyocytes with CACNB2 mutation.
  2. Association study of hypertension susceptibility genes ITGA9, MOV10, and CACNB2 with preeclampsia in Chinese Han population.
    Title: Association study of hypertension susceptibility genes ITGA9, MOV10, and CACNB2 with preeclampsia in Chinese Han population.
  3. Bipolar-associated miR-499-5p controls neuroplasticity by downregulating the Cav1.2 subunit CACNB2.
    Title: Bipolar-associated miR-499-5p controls neuroplasticity by downregulating the Cav1.2 subunit CACNB2.
  4. A Preclinical Study on Brugada Syndrome with a CACNB2 Variant Using Human Cardiomyocytes from Induced Pluripotent Stem Cells.
    Title: A Preclinical Study on Brugada Syndrome with a CACNB2 Variant Using Human Cardiomyocytes from Induced Pluripotent Stem Cells.
  5. CACNB2 rs11013860 polymorphism correlates of prefrontal cortex thickness in bipolar patients with first-episode mania.
    Title: CACNB2 rs11013860 polymorphism correlates of prefrontal cortex thickness in bipolar patients with first-episode mania.
  6. Autism-associated mutations in the CaVbeta2 calcium-channel subunit increase Ba(2+)-currents and lead to differential modulation by the RGK-protein Gem.
    Title: Autism-associated mutations in the Ca(V)β(2) calcium-channel subunit increase Ba(2+)-currents and lead to differential modulation by the RGK-protein Gem.
  7. Our data show that L-type calcium channels regulate VEGF expression and secretion from retinal pigment epithelial cells (ARPE19) and support the role of CACNB2 via regulation of VEGF in the pathogenesis of proliferative diabetic retinopathy.
    Title: CACNB2 Is a Novel Susceptibility Gene for Diabetic Retinopathy in Type 1 Diabetes.
  8. Our study demonstrates that bipolar disorder patients with the CACNB2 rs11013860 AA/CA genotype may exhibit altered hippocampal-cortical connectivity.
    Title: Variation in the CACNB2 gene is associated with functional connectivity of the Hippocampus in bipolar disorder.
  9. The results indicate that CACNB2 gene polymorphism was significantly associated with higher odds of high blood pressure in Lithuanian adolescents aged 12-15 years.
    Title: Association between ATP2B1 and CACNB2 polymorphisms and high blood pressure in a population of Lithuanian children and adolescents: a cross-sectional study.
  10. This genotype/phenotype association study uncovered a variant in CACNB2 that may be associated with both KD susceptibility and bifid T waves, a novel signature of altered myocardial repolarization.
    Title: Bifid T waves on the ECG and genetic variation in calcium channel voltage-dependent beta 2 subunit gene (CACNB2) in acute Kawasaki disease.
Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Brugada syndrome 4
MedGen: C2678477 OMIM: 611876 GeneReviews: Brugada Syndrome
Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
EBI GWAS Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
EBI GWAS Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
EBI GWAS Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
EBI GWAS Catalog
Genome-wide association study of blood pressure and hypertension.
EBI GWAS Catalog
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
EBI GWAS Catalog
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
EBI GWAS Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23743

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables calcium channel activity NAS
Non-traceable Author Statement
more info
 PubMed 
contributes_to high voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to voltage-gated calcium channel activity involved in AV node cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
contributes_to voltage-gated calcium channel activity involved in cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in calcium ion import IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in calcium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in calcium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in membrane depolarization during AV node cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in membrane depolarization during atrial cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neuromuscular junction development TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in positive regulation of calcium ion transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of high voltage-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in positive regulation of muscle contraction NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein localization to plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of presynaptic cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
  
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of L-type voltage-gated calcium channel complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of L-type voltage-gated calcium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in photoreceptor ribbon synapse IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in presynapse IEA
Inferred from Electronic Annotation
more info
  
part_of voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of voltage-gated calcium channel complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
voltage-dependent L-type calcium channel subunit beta-2
Names
calcium channel voltage-dependent subunit beta 2
calcium channel, voltage-dependent, beta 2 subunit
lambert-Eaton myasthenic syndrome antigen B
myasthenic (Lambert-Eaton) syndrome antigen B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016195.1 RefSeqGene

    Range
    4748..407881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_381

mRNA and Protein(s)

  1. NM_000724.4 → NP_000715.2  voltage-dependent L-type calcium channel subunit beta-2 isoform 1

    See identical proteins and their annotated locations for NP_000715.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 2. These differences cause translation initiation at an alternate start codon, and result in an isoform (1) with a shorter and distinct N-terminus, compared to isoform 2.
    Source sequence(s)
    AB208917, AL390783, AL450384
    Consensus CDS
    CCDS7128.1
    UniProtKB/TrEMBL
    Q59H42
    Related
    ENSP00000379821.2, ENST00000396576.6
    Conserved Domains (4) summary
    cd12040
    Location:57 → 125
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam12052
    Location:17 → 58
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    pfam12782
    Location:483 → 576
    Innate_immun; Invertebrate innate immunity transcript family
    cl27059
    Location:225 → 405
    Guanylate_kin; Guanylate kinase

  2. NM_001167945.2 → NP_001161417.1  voltage-dependent L-type calcium channel subunit beta-2 isoform 9

    See identical proteins and their annotated locations for NP_001161417.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses an alternate 5' terminal exon, lacks an alternate in-frame exon and contains an alternate in-frame exon in the 5' coding region, compared to variant 2. These differences cause translation initiation at an alternate start codon, and result in an isoform (9) with a shorter and distinct N-terminus, compared to isoform 2.
    Source sequence(s)
    AK307526, AL360231, AL450384
    UniProtKB/TrEMBL
    A0A2R8Y555
    Related
    ENSP00000494209.2, ENST00000643096.2
    Conserved Domains (3) summary
    cd12040
    Location:84 → 152
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:214 → 394
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:44 → 85
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal

  3. NM_001330060.2 → NP_001316989.1  voltage-dependent L-type calcium channel subunit beta-2 isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) represents use of an alternate promoter, differs in the 5' UTR and 5' coding region, and uses an alternate internal in-frame exon compared to variant 2. These differences cause translation initiation at an alternate start codon and result in an isoform (10) that is shorter and has a distinct N-terminus compared to isoform 2.
    Source sequence(s)
    AF465485, AL390783, AL450384, BP311576
    Consensus CDS
    CCDS81442.1
    UniProtKB/TrEMBL
    A0A087WVX5
    Related
    ENSP00000366536.3, ENST00000377319.9
    Conserved Domains (4) summary
    cd12040
    Location:57 → 125
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam12052
    Location:17 → 58
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    pfam12782
    Location:445 → 538
    Innate_immun; Invertebrate innate immunity transcript family
    cl27059
    Location:187 → 367
    Guanylate_kin; Guanylate kinase

  4. NM_001410882.1 → NP_001397811.1  voltage-dependent L-type calcium channel subunit beta-2 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL139814, AL450364, AL450384
    Consensus CDS
    CCDS91220.1
    UniProtKB/TrEMBL
    A0A494C0B2
    Related
    ENSP00000498460.1, ENST00000650685.1

  5. NM_201570.3 → NP_963864.1  voltage-dependent L-type calcium channel subunit beta-2 isoform 7

    See identical proteins and their annotated locations for NP_963864.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 2. These differences cause translation initiation at an alternate start codon, and result in an isoform (7) with a shorter and distinct N-terminus, compared to isoform 2.
    Source sequence(s)
    AF423192, AL139814, AL450384
    Consensus CDS
    CCDS7129.1
    UniProtKB/TrEMBL
    B7Z1U5, Q5VVH1
    Related
    ENSP00000366532.4, ENST00000377315.6
    Conserved Domains (4) summary
    cd12040
    Location:64 → 132
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:232 → 412
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:24 → 65
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    pfam12782
    Location:490 → 583
    Innate_immun; Invertebrate innate immunity transcript family

  6. NM_201571.4 → NP_963865.2  voltage-dependent L-type calcium channel subunit beta-2 isoform 6

    See identical proteins and their annotated locations for NP_963865.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate 5' terminal exon and therefore differs in the 5' UTR and 5' coding region, compared to variant 2. These differences cause translation initiation at an alternate start codon, and result in an isoform (6) with a shorter and distinct N-terminus, compared to isoform 2.
    Source sequence(s)
    AF423190, AL360231, AL450384, DC307859, DC352526
    Consensus CDS
    CCDS7127.1
    UniProtKB/TrEMBL
    B7Z3Y0
    Related
    ENSP00000282343.8, ENST00000282343.13
    Conserved Domains (3) summary
    cd12040
    Location:84 → 152
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:252 → 432
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:44 → 85
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal

  7. NM_201572.4 → NP_963866.2  voltage-dependent L-type calcium channel subunit beta-2 isoform 8

    See identical proteins and their annotated locations for NP_963866.2

    Status: REVIEWED

    Description
    Transcript Variant:This variant (8) uses an alternate 5' terminal exon, lacks an alternate in-frame exon and contains an alternate in-frame exon in the 5' coding region, compared to variant 2. These differences cause translation initiation at an alternate start codon, and result in an isoform (8) with a shorter and distinct N-terminus, compared to isoform 2.
    Source sequence(s)
    AL360231, AL450384, AY393861, DC307859, DC352526
    Consensus CDS
    CCDS41493.1
    UniProtKB/TrEMBL
    A0A2R8Y555
    Related
    ENSP00000496203.1, ENST00000645287.2
    Conserved Domains (4) summary
    cd12040
    Location:84 → 152
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam12052
    Location:44 → 85
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    pfam12782
    Location:486 → 579
    Innate_immun; Invertebrate innate immunity transcript family
    cl27059
    Location:228 → 408
    Guanylate_kin; Guanylate kinase

  8. NM_201590.3 → NP_963884.2  voltage-dependent L-type calcium channel subunit beta-2 isoform 3

    See identical proteins and their annotated locations for NP_963884.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 2. These differences cause translation initiation at an alternate start codon, and result in an isoform (3) with a shorter and distinct N-terminus, compared to isoform 2.
    Source sequence(s)
    AL450384, AY393859, DB235418
    Consensus CDS
    CCDS41494.1
    UniProtKB/TrEMBL
    Q59H42
    Related
    ENSP00000366546.4, ENST00000377329.10
    Conserved Domains (4) summary
    cd12040
    Location:58 → 126
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam12052
    Location:18 → 59
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    pfam12782
    Location:484 → 577
    Innate_immun; Invertebrate innate immunity transcript family
    cl27059
    Location:226 → 406
    Guanylate_kin; Guanylate kinase

  9. NM_201593.3 → NP_963887.2  voltage-dependent L-type calcium channel subunit beta-2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon and contains an alternate in-frame exon, in the 5' coding region, compared to variant 2. The encoded isoform (5) is shorter than isoform 2.
    Source sequence(s)
    AF465485, AL119895, AL360231, AL450384, S60415
    UniProtKB/TrEMBL
    A0A2R8Y555
    Conserved Domains (4) summary
    cd12040
    Location:112 → 180
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:242 → 422
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:72 → 113
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:252 → 423
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

  10. NM_201596.3 → NP_963890.2  voltage-dependent L-type calcium channel subunit beta-2 isoform 2

    See identical proteins and their annotated locations for NP_963890.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (2).
    Source sequence(s)
    AL360231, AL450384, S60415
    Consensus CDS
    CCDS7125.1
    UniProtKB/Swiss-Prot
    A6PVM5, A6PVM7, A6PVM8, O00304, Q08289, Q5QJ99, Q5QJA0, Q5VVG9, Q5VVH0, Q5VWV6, Q6TME1, Q6TME2, Q6TME3, Q8WX81, Q96NZ3, Q96NZ4, Q96NZ5, Q9BWU2, Q9HD32, Q9Y340, Q9Y341
    UniProtKB/TrEMBL
    B7Z3Y0
    Related
    ENSP00000320025.8, ENST00000324631.13
    Conserved Domains (4) summary
    cd12040
    Location:112 → 180
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:280 → 460
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:72 → 113
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:290 → 461
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

  11. NM_201597.3 → NP_963891.1  voltage-dependent L-type calcium channel subunit beta-2 isoform 4

    See identical proteins and their annotated locations for NP_963891.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon and contains an alternate in-frame exon, in the 5' coding region, compared to variant 2. The encoded isoform (4) is shorter than isoform 2.
    Source sequence(s)
    AL360231, AL450384, AY393860, S60415
    Consensus CDS
    CCDS7126.1
    UniProtKB/TrEMBL
    B7Z3Y0
    Related
    ENSP00000344474.6, ENST00000352115.10
    Conserved Domains (4) summary
    cd12040
    Location:112 → 180
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:256 → 436
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:72 → 113
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:266 → 437
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    18140424..18543557
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047425725.1 → XP_047281681.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X4

    Related
    ENSP00000495509.1, ENST00000644004.1

  2. XM_011519659.3 → XP_011517961.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X2

    See identical proteins and their annotated locations for XP_011517961.1

    UniProtKB/TrEMBL
    A0A087WVX5
    Conserved Domains (4) summary
    cd12040
    Location:58 → 126
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:202 → 382
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:18 → 59
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:212 → 383
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

  3. XM_006717502.4 → XP_006717565.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X1

    See identical proteins and their annotated locations for XP_006717565.1

    UniProtKB/TrEMBL
    A0A494C184, Q59H42
    Related
    ENSP00000498938.1, ENST00000652391.1
    Conserved Domains (4) summary
    cd12040
    Location:52 → 120
    SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
    pfam00625
    Location:220 → 400
    Guanylate_kin; Guanylate kinase
    pfam12052
    Location:12 → 53
    VGCC_beta4Aa_N; Voltage gated calcium channel subunit beta domain 4Aa N terminal
    cl17190
    Location:230 → 401
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

  4. XM_005252591.4 → XP_005252648.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X3

    See identical proteins and their annotated locations for XP_005252648.1

    Conserved Domains (2) summary
    pfam00625
    Location:1 → 180
    Guanylate_kin; Guanylate kinase
    cl17190
    Location:10 → 181
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    18159755..18562802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054366706.1 → XP_054222681.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X4

  2. XM_054366704.1 → XP_054222679.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X2

  3. XM_054366703.1 → XP_054222678.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X1

    UniProtKB/TrEMBL
    A0A494C184

  4. XM_054366705.1 → XP_054222680.1  voltage-dependent L-type calcium channel subunit beta-2 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q08289.3 GenPept UniProtKB/Swiss-Prot:Q08289

Gene LinkOut

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