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

Summary

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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
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]

Genomic context

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Location :: 10p12

Sequence :: Chromosome: 10; NC_000010.10 (18429606..18830688)

See CACNB2 in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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

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.
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.
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.
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).
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.
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.
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.
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.
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.
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)

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

Brugada syndrome is characterized by cardiac conduction abnormalities (ST-segment abnormalities in leads V1-V3 on ECG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood; however, age at diagnosis ranges from two days to 85 years. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS) (death of a child during the first year of life without an identifiable cause) and the sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.

Diagnosis Testing

Diagnosis is based on clinical findings. Mutations in eight genes (SCN5A, GPD1L, CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, and HCN4) are known to cause Brugada syndrome. Molecular genetic testing for all eight genes is available clinically.

Genetic Counseling

Brugada syndrome is inherited in an autosomal dominant manner. Most individuals diagnosed with Brugada syndrome have an affected parent. The proportion of cases caused by a de novo mutation is estimated at 1%. Each child of an individual with Brugada syndrome has a 50% chance of inheriting the mutation. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation in the family is known.

References

PMID: 20301690

NHGRI GWAS Catalog

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

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

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

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

Genome-wide association study of blood pressure and hypertension.

Interactions

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

Pathways from BioSystems

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Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
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,...

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

Genotypes

See CACNB2 SNP Geneview Report
See CACNB2 SNP Genotype Report
See CACNB2 SNP Variation Viewer Report

Homology

Homologs of the CACNB2 gene: The CACNB2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and fruit fly.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Clone Names

FLJ23743

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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
protein binding	IPI Inferred from Physical Interaction more info	PubMed
voltage-gated calcium channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
axon guidance	TAS Traceable Author Statement more info
calcium ion import	IDA Inferred from Direct Assay more info	PubMed
calcium ion transport	NAS Non-traceable Author Statement more info
neuromuscular junction development	TAS Traceable Author Statement more info	PubMed
positive regulation of calcium ion transport	IDA Inferred from Direct Assay 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	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: 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

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

5001..406083

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

smart00072
Location:235 – 406
Blast Score: 283

GuKc; Guanylate kinase homologues.

pfam00625
Location:225 – 405
Blast Score: 467

Guanylate_kin; Guanylate kinase

cd12040
Location:57 – 125
Blast Score: 362

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
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

smart00072
Location:224 – 395
Blast Score: 282

GuKc; Guanylate kinase homologues.

pfam00625
Location:214 – 394
Blast Score: 466

Guanylate_kin; Guanylate kinase

cd12040
Location:84 – 152
Blast Score: 364

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
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

smart00072
Location:242 – 413
Blast Score: 284

GuKc; Guanylate kinase homologues.

pfam00625
Location:232 – 412
Blast Score: 467

Guanylate_kin; Guanylate kinase

cd12040
Location:64 – 132
Blast Score: 361

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
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

smart00072
Location:262 – 433
Blast Score: 283

GuKc; Guanylate kinase homologues.

pfam00625
Location:252 – 432
Blast Score: 466

Guanylate_kin; Guanylate kinase

cd12040
Location:84 – 152
Blast Score: 361

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
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/Swiss-Prot

Q08289

Conserved Domains (3) summary

smart00072
Location:238 – 409
Blast Score: 284

GuKc; Guanylate kinase homologues.

pfam00625
Location:228 – 408
Blast Score: 470

Guanylate_kin; Guanylate kinase

cd12040
Location:84 – 152
Blast Score: 363

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
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

smart00072
Location:236 – 407
Blast Score: 282

GuKc; Guanylate kinase homologues.

pfam00625
Location:226 – 406
Blast Score: 465

Guanylate_kin; Guanylate kinase

cd12040
Location:58 – 126
Blast Score: 360

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
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

smart00072
Location:252 – 423
Blast Score: 281

GuKc; Guanylate kinase homologues.

pfam00625
Location:242 – 422
Blast Score: 464

Guanylate_kin; Guanylate kinase

cd12040
Location:112 – 180
Blast Score: 364

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
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

smart00072
Location:290 – 461
Blast Score: 282

GuKc; Guanylate kinase homologues.

pfam00625
Location:280 – 460
Blast Score: 465

Guanylate_kin; Guanylate kinase

cd12040
Location:112 – 180
Blast Score: 361

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2
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

Conserved Domains (3) summary

smart00072
Location:266 – 437
Blast Score: 283

GuKc; Guanylate kinase homologues.

pfam00625
Location:256 – 436
Blast Score: 468

Guanylate_kin; Guanylate kinase

cd12040
Location:112 – 180
Blast Score: 363

SH3_CACNB2; Src Homology 3 domain of Voltage-dependent L-type calcium channel subunit beta2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p10 Primary Assembly

Range

18429606..18830688

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

18094960..18495622

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018921.1 Alternate CHM1_1.0

Range

18339688..18740200

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01034537.1 (21437..116821)	None
genomic	ABBA01034538.1	None
genomic	ABBA01034539.1	None
genomic	ABBA01034540.1	None
genomic	ABBA01034541.1	None
genomic	ABBA01034542.1	None
genomic	AL139814.13 (100..119883)	None
genomic	AL162054.1	None
genomic	AL353603.8 (2001..30525)	None
genomic	AL360231.16 (139604..154243)	None
genomic	AL390783.12 (1998..177655)	None
genomic	AL450364.12 (2000..38088)	None
genomic	AL450384.34 (2000..28387)	None
genomic	AMYH01002154.1 (233521..634033)	None
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