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

Summary

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: mouse all
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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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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	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S2356 (e-PCR)
- UniSTS:8708

L18506 (e-PCR)
- UniSTS:54024

RH17936 (e-PCR)
- UniSTS:29466

D10S548 (e-PCR), detects polymorphism
- UniSTS:26941

D10S548 (e-PCR), detects polymorphism
- UniSTS:57926

G15938 (e-PCR)
- UniSTS:79201

D1S1425 (e-PCR)
- UniSTS:149621

G35510 (e-PCR)
- UniSTS:44150

D10S548 (e-PCR), detects polymorphism
- UniSTS:63610

D10S2318 (e-PCR)
- UniSTS:154749

A008O21 (e-PCR)
- UniSTS:62847

RH103864 (e-PCR)
- UniSTS:98189

RH44603 (e-PCR)
- UniSTS:57763

SHGC-30313 (e-PCR)
- UniSTS:4273

SHGC-35043 (e-PCR)
- UniSTS:50630

STS-S60415 (e-PCR)
- UniSTS:71371

RH120624 (e-PCR)
- UniSTS:132565

RH80031 (e-PCR)
- UniSTS:91103

SHGC-149805 (e-PCR)
- UniSTS:182239

SHGC-84814 (e-PCR)
- UniSTS:104173

SHGC-154459 (e-PCR)
- UniSTS:182271

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 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

NG_016195.1 RefSeqGene

Range

4748..407881

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_381

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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 ...
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 ...
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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

18140424..18543557

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Related

ENSP00000495509.1, ENST00000644004.1
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 ...
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 ...
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

NC_060934.1 Alternate T2T-CHM13v2.0

Range

18159755..18562802

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054366706.1 → XP_054222681.1 voltage-dependent L-type calcium channel subunit beta-2 isoform X4
XM_054366704.1 → XP_054222679.1 voltage-dependent L-type calcium channel subunit beta-2 isoform X2
XM_054366703.1 → XP_054222678.1 voltage-dependent L-type calcium channel subunit beta-2 isoform X1

UniProtKB/TrEMBL

A0A494C184
XM_054366705.1 → XP_054222680.1 voltage-dependent L-type calcium channel subunit beta-2 isoform X3