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    CACNB2 calcium channel, voltage-dependent, beta 2 subunit [ Homo sapiens ]

    Gene ID: 783, updated on 19-May-2012
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    Summary

    Official Symbol
    CACNB2provided by HGNC
    Official Full Name
    calcium channel, voltage-dependent, beta 2 subunitprovided by HGNC
    Primary source
    HGNC:1402
    Locus tag
    RP11-383B4.2
    See related
    Ensembl:ENSG00000165995; HPRD:02473; MIM:600003; Vega:OTTHUMG00000017764
    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
    MYSB; CAVB2; CACNLB2; FLJ23743
    Summary
    This gene encodes a subunit of a voltage-dependent calcium channel protein which 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 which is an autoimmune disorder. Mutations in this gene are associated with Brugada symdrome. Alternatively spliced variants have been identified for this gene. [provided by RefSeq, Nov 2009]
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    Genomic context

    Location :
    10p12
    Sequence :
    Chromosome: 10; NC_000010.10 (18429606..18830688)
    See CACNB2 in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene microRNA 511-2 Neighboring gene mannose receptor, C type 1 Neighboring gene solute carrier family 39 (zinc transporter), member 12 Neighboring gene uncharacterized LOC100129213 Neighboring gene NOP2/Sun domain family, member 6 Neighboring gene ADP-ribosylation factor-like 5B

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay. Kanter RJ, et al. Circulation, 2012 Jan 3. PMID 22090166.
    2. Genetic variations in CYP17A1, CACNB2 and PLEKHA7 are associated with blood pressure and/or hypertension in She ethnic minority of China. Lin Y, et al. Atherosclerosis, 2011 Dec. PMID 21963141.
    3. Genetic variation in the beta2 subunit of the voltage-gated calcium channel and pharmacogenetic association with adverse cardiovascular outcomes in the INternational VErapamil SR-Trandolapril STudy GENEtic Substudy (INVEST-GENES). Niu Y, et al. Circ Cardiovasc Genet, 2010 Dec. PMID 21156931.
    4. Discovery and replication of novel blood pressure genetic loci in the Women's Genome Health Study. Ho JE, et al. J Hypertens, 2011 Jan. PMID 21045733.
    5. Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Burashnikov E, et al. Heart Rhythm, 2010 Dec. PMID 20817017.

    See all (46) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Genetic variations in CYP17A1, CACNB2 and PLEKHA7 were related to blood pressure traits and/or hypertension in Chinese She population.
      Title: Genetic variations in CYP17A1, CACNB2 and PLEKHA7 are associated with blood pressure and/or hypertension in She ethnic minority of China.
    2. Genetic testing reveals disease-causing mutations in depolarizing sodium (SCN5A) or calcium (CaCNB2b) channels in 5 infants with rapid ventricular tachycardia, conduction abnormalities, and Brugada-like syndrome.
      Title: Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay.
    3. This study provided that cacnb2 are associated with Bipolar I in the Han Chinese population.
      Title: Genome-wide association study of bipolar I disorder in the Han Chinese population.
    4. that genetic variation within CACNB2 may influence treatment-related outcomes in high-risk patients with hypertension.
      Title: Genetic variation in the beta2 subunit of the voltage-gated calcium channel and pharmacogenetic association with adverse cardiovascular outcomes in the INternational VErapamil SR-Trandolapril STudy GENEtic Substudy (INVEST-GENES).
    5. CACNB2 is a possible novel early repolarization syndrome susceptibility gene.
      Title: Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.
    6. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Discovery and replication of novel blood pressure genetic loci in the Women's Genome Health Study.
    7. We also identified a novel polymorphism (D601E) in CACNB2b that slowed inactivation of L-type calcium current (I(Ca,L)), significantly increased total charge. Slowed conduction was present.
      Title: Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    9. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study of bipolar I disorder in the Han Chinese population.
    10. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
    Submit: New GeneRIF Correction See all (17)
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    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    A genome-wide association study identifies protein quantitative trait loci (pQTLs).

    Brugada syndrome 4

    Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.

    Genome-wide association study of blood pressure and hypertension.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q08289 P17612 PRKACA    HPRD  PubMed  
    Q08289 O75628 REM1    HPRD  PubMed  
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
      Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Cardiac muscle contraction, conserved biosystem (from KEGG)
      Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
    • Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels, organism-specific biosystem (from REACTOME)
      Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels, organism-specific biosystemThe action potential travels down the axon and reaches the pre-synaptic terminal depolarizing the membrane in the pre-synaptic terminal. The depolarization causes the voltage-gated Ca2+ channels to ...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Inhibition of Insulin Secretion by Adrenaline/Noradrenaline, organism-specific biosystem (from REACTOME)
      Inhibition of Insulin Secretion by Adrenaline/Noradrenaline, organism-specific biosystemThe catecholamines adrenaline (epinephrine) and noradrenaline (norepinephrine) inhibit insulin secretion from pancreatic beta cells. Four effects are seen in the cells:1. Inhibition of exocytosis of ...
    • Integration of energy metabolism, organism-specific biosystem (from REACTOME)
      Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
      NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
    • NCAM1 interactions, organism-specific biosystem (from REACTOME)
      NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Regulation of Insulin Secretion, organism-specific biosystem (from REACTOME)
      Regulation of Insulin Secretion, organism-specific biosystemPancreatic beta cells integrate signals from several metabolites and hormones to control the secretion of insulin. In general, glucose triggers insulin secretion while other factors can amplify or in...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium channel activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    calcium channel regulator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    voltage-gated calcium channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    voltage-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    axon guidance TAS
    Traceable Author Statement
    more info
    		  
    calcium ion transmembrane transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    calcium ion transport NAS
    Non-traceable Author Statement
    more info
    		  
    ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    neuromuscular junction development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    regulation of calcium ion transport via voltage-gated calcium channel activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    integral to plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
    		  
    voltage-gated calcium channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    voltage-dependent L-type calcium channel subunit beta-2
    Names
    voltage-dependent L-type calcium channel subunit beta-2
    CAB2
    lambert-Eaton myasthenic syndrome antigen B
    myasthenic (Lambert-Eaton) syndrome antigen B
    calcium channel voltage-dependent subunit beta 2
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    NCBI Reference Sequences (RefSeq)

    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
      5001..406083
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000724.3 → NP_000715.2  voltage-dependent L-type calcium channel subunit beta-2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB208917, AL390783, AL450384
      Consensus CDS
      CCDS7128.1
      UniProtKB/Swiss-Prot
      Q08289
      UniProtKB/TrEMBL
      Q59H42
      Related
      ENSP00000379821, OTTHUMP00000019256, ENST00000396576, OTTHUMT00000047074
      Conserved Domains (3) summary
      cd00174
      Location:64 – 120
      Blast Score: 106
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      pfam00625
      Location:225 – 405
      Blast Score: 467
      Guanylate_kin; Guanylate kinase
      cl09099
      Location:235 – 406
      Blast Score: 283
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, and has multiple coding region differences compared to variant 1. The encoded isoform (9) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK307526, AL450384
      Conserved Domains (3) summary
      cd00174
      Location:91 – 147
      Blast Score: 105
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      pfam00625
      Location:214 – 394
      Blast Score: 466
      Guanylate_kin; Guanylate kinase
      cl09099
      Location:224 – 395
      Blast Score: 282
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (7) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AF423192, AL139814, AL450384
      Consensus CDS
      CCDS7129.1
      UniProtKB/Swiss-Prot
      Q08289
      UniProtKB/TrEMBL
      Q5VVH1
      Related
      ENSP00000366532, OTTHUMP00000019257, ENST00000377315, OTTHUMT00000047075
      Conserved Domains (3) summary
      cd00174
      Location:71 – 127
      Blast Score: 105
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      pfam00625
      Location:232 – 412
      Blast Score: 467
      Guanylate_kin; Guanylate kinase
      cl09099
      Location:242 – 413
      Blast Score: 284
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. NM_201571.3 → NP_963865.2  voltage-dependent L-type calcium channel subunit beta-2 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon, and has multiple coding region differences compared to variant 1. The encoded isoform (6) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AF423190, AL450384, DC307859, DC352526
      Consensus CDS
      CCDS7127.1
      UniProtKB/Swiss-Prot
      Q08289
      Related
      ENSP00000282343, OTTHUMP00000019255, ENST00000282343, OTTHUMT00000047073
      Conserved Domains (3) summary
      cd00174
      Location:91 – 147
      Blast Score: 105
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      pfam00625
      Location:252 – 432
      Blast Score: 466
      Guanylate_kin; Guanylate kinase
      cl09099
      Location:262 – 433
      Blast Score: 283
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    5. NM_201572.3 → NP_963866.2  voltage-dependent L-type calcium channel subunit beta-2 isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (8) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL450384, AY393861, DC307859, DC352526
      Consensus CDS
      CCDS41493.1
      UniProtKB/TrEMBL
      A6PVM7
      UniProtKB/TrEMBL
      Q6TME2
      Related
      ENSP00000366548, OTTHUMP00000196786, ENST00000377331, OTTHUMT00000317115
      Conserved Domains (3) summary
      cd00174
      Location:91 – 147
      Blast Score: 104
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      pfam00625
      Location:228 – 408
      Blast Score: 470
      Guanylate_kin; Guanylate kinase
      cl09099
      Location:238 – 409
      Blast Score: 284
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL450384, AY393859, DB235418
      Consensus CDS
      CCDS41494.1
      UniProtKB/Swiss-Prot
      Q08289
      UniProtKB/TrEMBL
      Q5QJ99
      Related
      ENSP00000366546, OTTHUMP00000196783, ENST00000377329, OTTHUMT00000317112
      Conserved Domains (3) summary
      cd00174
      Location:65 – 121
      Blast Score: 105
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      pfam00625
      Location:226 – 406
      Blast Score: 465
      Guanylate_kin; Guanylate kinase
      cl09099
      Location:236 – 407
      Blast Score: 282
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (5) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AF465485, AL119895, AL450384, S60415
      UniProtKB/Swiss-Prot
      Q08289
      Conserved Domains (3) summary
      cd00174
      Location:119 – 175
      Blast Score: 106
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      pfam00625
      Location:242 – 422
      Blast Score: 464
      Guanylate_kin; Guanylate kinase
      cl09099
      Location:252 – 423
      Blast Score: 281
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon and includes an alternate in-frame exon compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL450384, S60415
      Consensus CDS
      CCDS7125.1
      UniProtKB/Swiss-Prot
      Q08289
      Related
      ENSP00000320025, OTTHUMP00000019254, ENST00000324631, OTTHUMT00000047072
      Conserved Domains (3) summary
      cd00174
      Location:119 – 175
      Blast Score: 106
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      pfam00625
      Location:280 – 460
      Blast Score: 465
      Guanylate_kin; Guanylate kinase
      cl09099
      Location:290 – 461
      Blast Score: 282
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon and includes an alternate in-frame exon compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AL450384, AY393860, S60415
      Consensus CDS
      CCDS7126.1
      UniProtKB/Swiss-Prot
      Q08289
      UniProtKB/TrEMBL
      Q6TME3
      Related
      ENSP00000344474, OTTHUMP00000196784, ENST00000352115, OTTHUMT00000317113
      Conserved Domains (3) summary
      cd00174
      Location:119 – 175
      Blast Score: 104
      SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...
      pfam00625
      Location:256 – 436
      Blast Score: 468
      Guanylate_kin; Guanylate kinase
      cl09099
      Location:266 – 437
      Blast Score: 283
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p5 Primary Assembly

      Range
      18429606..18830688
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      18094960..18495622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL139814.13 CAH71349.1
      CAH71350.1
      CAH71351.1
      CAH71352.1
      CAH71353.1
      CAO03603.1
      CAO03604.1
      CAO03605.1
      CAO03606.1
    genomic AL162054.1 None
    genomic AL353603.8 (2000..30524) None
    genomic AL360231.16 CAH70125.1
      CAH70126.1
    genomic AL390783.12 CAH70065.1
      CAH70066.1
      CAO03475.1
    genomic AL450364.12 CAI14731.1
      CAI14732.1
      CAI14733.1
      CAI14734.1
      CAI14735.1
      CAO03634.1
      CAO03635.1
      CAO03636.1
      CAO03637.1
    genomic AL450384.34 CAH73206.1
      CAH73207.1
      CAH73208.1
      CAH73209.1
      CAH73210.1
      CAO03513.1
      CAO03514.1
      CAO03515.1
      CAO03516.1
    genomic AY027898.1 AAK16994.1
    genomic CH471072.2 EAW86193.1
      EAW86194.1
      EAW86195.1
      EAW86196.1
      EAW86197.1
    mRNA AB208917.1 BAD92154.1
    mRNA AF137376.1 AAD33729.1
    mRNA AF137377.1 AAD33730.1
    mRNA AF285239.2 AAG01473.2
    mRNA AF423189.1 AAL16948.1
    mRNA AF423190.1 AAL16949.1
    mRNA AF423191.1 AAL16950.1
    mRNA AF423192.1 AAL16951.1
    mRNA AF465485.1 AAL73495.1
    mRNA AK021994.1 None
    mRNA AK022426.1 None
    mRNA AK128769.1 None
    mRNA AK293837.1 BAH11608.1
    mRNA AK293937.1 BAH11631.1
    mRNA AK295113.1 BAH11979.1
    mRNA AK296471.1 BAH12366.1
    mRNA AK299873.1 BAH13158.1
    mRNA AK307526.1 None
    mRNA AK307800.1 None
    mRNA AK310943.1 None
    mRNA AK311694.1 None
    mRNA AL119895.1 None
    mRNA AL599294.1 None
    mRNA AL600557.1 None
    mRNA AY393858.1 AAQ97606.1
    mRNA AY393859.1 AAQ97607.1
    mRNA AY393860.1 AAQ97608.1
    mRNA AY393861.1 AAQ97609.1
    mRNA AY393862.1 AAQ97610.1
    mRNA AY393863.1 AAQ97611.1
    mRNA AY675091.1 AAV49501.1
    mRNA AY675092.1 AAV49502.1
    mRNA BC136409.1 AAI36410.1
    mRNA BM312516.1 None
    mRNA DB235418.1 None
    mRNA DC307859.1 None
    mRNA DC352526.1 None
    mRNA S60415.1 AAB51370.1
    mRNA U95019.1 AAB53332.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    AAB27916.1 GenPept
    Q08289.3 GenPept UniProtKB/Swiss-Prot:Q08289
    Q59H42 GenPept UniProtKB/TrEMBL:Q59H42
    Q5QJ99 GenPept UniProtKB/TrEMBL:Q5QJ99
    Q5QJA0 GenPept UniProtKB/TrEMBL:Q5QJA0
    Q5UM67 GenPept UniProtKB/TrEMBL:Q5UM67
    Q5UM68 GenPept UniProtKB/TrEMBL:Q5UM68
    Q5VVH1 GenPept UniProtKB/TrEMBL:Q5VVH1
    Q6TME0 GenPept UniProtKB/TrEMBL:Q6TME0
    Q6TME1 GenPept UniProtKB/TrEMBL:Q6TME1
    Q6TME2 GenPept UniProtKB/TrEMBL:Q6TME2
    Q6TME3 GenPept UniProtKB/TrEMBL:Q6TME3
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