Q08289 (CACB2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Voltage-dependent L-type calcium channel subunit beta-2
Short name=CAB2

Alternative name(s):
Calcium channel voltage-dependent subunit beta 2
Lambert-Eaton myasthenic syndrome antigen B
Short name=MYSB

Gene names

Name:	CACNB2
Synonyms:	CACNLB2, MYSB

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	660 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.
Subunit structure	The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with CAMK2D By similarity. Interacts with RRAD. Interaction with RRAD regulates the trafficking of CACNA1C to the cell membrane. Ref.10
Subcellular location	Cell membrane › sarcolemma; Peripheral membrane protein; Cytoplasmic side By similarity.
Tissue specificity	Expressed in all tissues.
Post-translational modification	Regulated through phosphorylation at Thr-554 by CaMK2D By similarity.
Involvement in disease	Defects in CACNB2 are the cause of Brugada syndrome type 4 (BRGDA4) [MIM:611876]. A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs (called ventricular fibrillation), the individual will faint and may die in a few minutes if the heart is not reset. Ref.12
Sequence similarities	Belongs to the calcium channel beta subunit family. Contains 1 SH3 domain.
Sequence caution	The sequence AAB51370.1 differs from that shown. Reason: Frameshift at position 515.

Ontologies

Keywords
Biological process	Calcium transport Ion transport Transport
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Brugada syndrome Disease mutation
Domain	SH3 domain
Ligand	Calcium
Molecular function	Calcium channel Ionic channel Voltage-gated channel
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	axon guidance Traceable author statement. Source: Reactome neuromuscular junction development Traceable author statement Ref.1. Source: ProtInc
Cellular component	integral to plasma membrane Non-traceable author statement PubMed 9594024. Source: UniProtKB sarcolemma Inferred from electronic annotation. Source: UniProtKB-SubCell voltage-gated calcium channel complex Traceable author statement Ref.2. Source: ProtInc
Molecular function	protein binding Inferred from physical interaction Ref.10. Source: UniProtKB voltage-gated calcium channel activity Traceable author statement Ref.2. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 8 isoforms produced by alternative splicing. [Align] [Select]

Isoform 2d (identifier: Q08289-1)

Also known as: CACNB2d;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2a (identifier: Q08289-2)

Also known as: CACNB2a;

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: MVQRDMSKSP...DTTSNSFVRQ → MQCCGLVHRRRVRVSY

Isoform 2b (identifier: Q08289-3)

Also known as: CACNB2b;

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: MVQRDMSKSP...DTTSNSFVRQ → MLDRRLIAPQTKYIIPG

Isoform 2c (identifier: Q08289-4)

Also known as: CACNB2c;

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MVQRDMSKSPPTAAAAVAQEIQMELLENVAPAGALGAAAQ → MNQGSGLDLLKI

Isoform 2e (identifier: Q08289-5)

Also known as: CACNB2e;

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: MVQRDMSKSP...DTTSNSFVRQ → MKATWIRLLKRAKGGRLKNSDIC

Isoform 2f (identifier: Q08289-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: MVQRDMSKSP...DTTSNSFVRQ → MQCCGLVHRRRVRVSY
     224-268: AIDIDATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKK → AKQKQKS

Isoform 2g (identifier: Q08289-7)

The sequence of this isoform differs from the canonical sequence as follows:
     224-268: AIDIDATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKK → AKQKQKS

Isoform 2h (identifier: Q08289-8)

The sequence of this isoform differs from the canonical sequence as follows:
     224-268: AIDIDATGLDAEENDIPANHRSPKPSANSVTSPHSKEKRMPFFKK → GAKSADEQDQWKTAGLFWRFT

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 660	660	Voltage-dependent L-type calcium channel subunit beta-2		PRO_0000144051
Regions
	Domain	114 – 183	70	SH3
Sites
	Site	549	1	Required for CaMK2D-binding By similarity
Amino acid modifications
	Modified residue	554	1	Phosphothreonine; by CaMK2D By similarity
Natural variations
	Alternative sequence	1 – 71	71	MVQRD…SFVRQ → MQCCGLVHRRRVRVSY in isoform 2a and isoform 2f.		VSP_000627
	Alternative sequence	1 – 71	71	MVQRD…SFVRQ → MLDRRLIAPQTKYIIPG in isoform 2b.		VSP_000628
	Alternative sequence	1 – 71	71	MVQRD…SFVRQ → MKATWIRLLKRAKGGRLKNS DIC in isoform 2e.		VSP_000629
	Alternative sequence	1 – 40	40	MVQRD…GAAAQ → MNQGSGLDLLKI in isoform 2c.		VSP_000626
	Alternative sequence	224 – 268	45	AIDID…PFFKK → AKQKQKS in isoform 2f and isoform 2g.		VSP_000630
	Alternative sequence	224 – 268	45	AIDID…PFFKK → GAKSADEQDQWKTAGLFWRF T in isoform 2h.		VSP_000631
	Natural variant	99	1	A → G in a colorectal cancer sample; somatic mutation. Ref.11		VAR_036350
	Natural variant	535	1	S → L in BRGDA4; loss of function. Ref.12		VAR_044041
Experimental info
	Sequence conflict	69	1	V → L in AAD33729. Ref.3
	Sequence conflict	100 – 101	2	ER → Q in AAD33729. Ref.3
	Sequence conflict	122	1	N → D in AAD33729. Ref.3
	Sequence conflict	364	1	L → V in AAD33729. Ref.3
	Sequence conflict	364	1	L → V in AAD33730. Ref.3
	Sequence conflict	406	1	R → T in AAD33729. Ref.3
	Sequence conflict	406	1	R → T in AAD33730. Ref.3
	Sequence conflict	501	1	D → H in AAD33729. Ref.3
	Sequence conflict	501	1	D → H in AAD33730. Ref.3
	Sequence conflict	524	1	P → G in AAD33729. Ref.3
	Sequence conflict	524	1	P → G in AAD33730. Ref.3
	Sequence conflict	624	1	Q → QQ in AAD33729. Ref.3
	Sequence conflict	624	1	Q → QQ in AAD33730. Ref.3
	Sequence conflict	659	1	R → P in AAB53332. Ref.2
	Sequence conflict	659	1	R → P in AAG01473. Ref.5
	Sequence conflict	659	1	R → P in AAL16948. Ref.5
	Sequence conflict	659	1	R → P in AAL16951. Ref.5
	Sequence conflict	659	1	R → P in AAL16950. Ref.5
	Sequence conflict	659	1	R → P in AAL73495. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 2d (CACNB2d) [UniParc]. Last modified April 17, 2007. Version 3. Checksum: 4A08B141EE66404E	FASTA	660	73,581
	10 20 30 40 50 60 MVQRDMSKSP PTAAAAVAQE IQMELLENVA PAGALGAAAQ SYGKGARRKN RFKGSDGSTS 70 80 90 100 110 120 SDTTSNSFVR QGSADSYTSR PSDSDVSLEE DREAVRREAE RQAQAQLEKA KTKPVAFAVR 130 140 150 160 170 180 TNVSYSAAHE DDVPVPGMAI SFEAKDFLHV KEKFNNDWWI GRLVKEGCEI GFIPSPVKLE 190 200 210 220 230 240 NMRLQHEQRA KQGKFYSSKS GGNSSSSLGD IVPSSRKSTP PSSAIDIDAT GLDAEENDIP 250 260 270 280 290 300 ANHRSPKPSA NSVTSPHSKE KRMPFFKKTE HTPPYDVVPS MRPVVLVGPS LKGYEVTDMM 310 320 330 340 350 360 QKALFDFLKH RFEGRISITR VTADISLAKR SVLNNPSKHA IIERSNTRSS LAEVQSEIER 370 380 390 400 410 420 IFELARTLQL VVLDADTINH PAQLSKTSLA PIIVYVKISS PKVLQRLIKS RGKSQAKHLN 430 440 450 460 470 480 VQMVAADKLA QCPPELFDVI LDENQLEDAC EHLADYLEAY WKATHPPSSS LPNPLLSRTL 490 500 510 520 530 540 ATSSLPLSPT LASNSQGSQG DQRTDRSAPI RSASQAEEEP SVEPVKKSQH RSSSSAPHHN 550 560 570 580 590 600 HRSGTSRGLS RQETFDSETQ ESRDSAYVEP KEDYSHDHVD HYASHRDHNH RDETHGSSDH 610 620 630 640 650 660 RHRESRHRSR DVDREQDHNE CNKQRSRHKS KDRYCEKDGE VISKKRNEAG EWNRDVYIRQ
	Isoform 2a (CACNB2a) [UniParc]. Checksum: 710A5E734B7442DD	FASTA	605	68,142
	10 20 30 40 50 60 MQCCGLVHRR RVRVSYGSAD SYTSRPSDSD VSLEEDREAV RREAERQAQA QLEKAKTKPV 70 80 90 100 110 120 AFAVRTNVSY SAAHEDDVPV PGMAISFEAK DFLHVKEKFN NDWWIGRLVK EGCEIGFIPS 130 140 150 160 170 180 PVKLENMRLQ HEQRAKQGKF YSSKSGGNSS SSLGDIVPSS RKSTPPSSAI DIDATGLDAE 190 200 210 220 230 240 ENDIPANHRS PKPSANSVTS PHSKEKRMPF FKKTEHTPPY DVVPSMRPVV LVGPSLKGYE 250 260 270 280 290 300 VTDMMQKALF DFLKHRFEGR ISITRVTADI SLAKRSVLNN PSKHAIIERS NTRSSLAEVQ 310 320 330 340 350 360 SEIERIFELA RTLQLVVLDA DTINHPAQLS KTSLAPIIVY VKISSPKVLQ RLIKSRGKSQ 370 380 390 400 410 420 AKHLNVQMVA ADKLAQCPPE LFDVILDENQ LEDACEHLAD YLEAYWKATH PPSSSLPNPL 430 440 450 460 470 480 LSRTLATSSL PLSPTLASNS QGSQGDQRTD RSAPIRSASQ AEEEPSVEPV KKSQHRSSSS 490 500 510 520 530 540 APHHNHRSGT SRGLSRQETF DSETQESRDS AYVEPKEDYS HDHVDHYASH RDHNHRDETH 550 560 570 580 590 600 GSSDHRHRES RHRSRDVDRE QDHNECNKQR SRHKSKDRYC EKDGEVISKK RNEAGEWNRD VYIRQ
	Isoform 2b (CACNB2b) [UniParc]. Checksum: F4A4A1BAE6A105F0	FASTA	606	68,164
	10 20 30 40 50 60 MLDRRLIAPQ TKYIIPGGSA DSYTSRPSDS DVSLEEDREA VRREAERQAQ AQLEKAKTKP 70 80 90 100 110 120 VAFAVRTNVS YSAAHEDDVP VPGMAISFEA KDFLHVKEKF NNDWWIGRLV KEGCEIGFIP 130 140 150 160 170 180 SPVKLENMRL QHEQRAKQGK FYSSKSGGNS SSSLGDIVPS SRKSTPPSSA IDIDATGLDA 190 200 210 220 230 240 EENDIPANHR SPKPSANSVT SPHSKEKRMP FFKKTEHTPP YDVVPSMRPV VLVGPSLKGY 250 260 270 280 290 300 EVTDMMQKAL FDFLKHRFEG RISITRVTAD ISLAKRSVLN NPSKHAIIER SNTRSSLAEV 310 320 330 340 350 360 QSEIERIFEL ARTLQLVVLD ADTINHPAQL SKTSLAPIIV YVKISSPKVL QRLIKSRGKS 370 380 390 400 410 420 QAKHLNVQMV AADKLAQCPP ELFDVILDEN QLEDACEHLA DYLEAYWKAT HPPSSSLPNP 430 440 450 460 470 480 LLSRTLATSS LPLSPTLASN SQGSQGDQRT DRSAPIRSAS QAEEEPSVEP VKKSQHRSSS 490 500 510 520 530 540 SAPHHNHRSG TSRGLSRQET FDSETQESRD SAYVEPKEDY SHDHVDHYAS HRDHNHRDET 550 560 570 580 590 600 HGSSDHRHRE SRHRSRDVDR EQDHNECNKQ RSRHKSKDRY CEKDGEVISK KRNEAGEWNR DVYIRQ
	Isoform 2c (CACNB2c) [UniParc]. Checksum: FBD00FB30E47E5FB	FASTA	632	70,832
	10 20 30 40 50 60 MNQGSGLDLL KISYGKGARR KNRFKGSDGS TSSDTTSNSF VRQGSADSYT SRPSDSDVSL 70 80 90 100 110 120 EEDREAVRRE AERQAQAQLE KAKTKPVAFA VRTNVSYSAA HEDDVPVPGM AISFEAKDFL 130 140 150 160 170 180 HVKEKFNNDW WIGRLVKEGC EIGFIPSPVK LENMRLQHEQ RAKQGKFYSS KSGGNSSSSL 190 200 210 220 230 240 GDIVPSSRKS TPPSSAIDID ATGLDAEEND IPANHRSPKP SANSVTSPHS KEKRMPFFKK 250 260 270 280 290 300 TEHTPPYDVV PSMRPVVLVG PSLKGYEVTD MMQKALFDFL KHRFEGRISI TRVTADISLA 310 320 330 340 350 360 KRSVLNNPSK HAIIERSNTR SSLAEVQSEI ERIFELARTL QLVVLDADTI NHPAQLSKTS 370 380 390 400 410 420 LAPIIVYVKI SSPKVLQRLI KSRGKSQAKH LNVQMVAADK LAQCPPELFD VILDENQLED 430 440 450 460 470 480 ACEHLADYLE AYWKATHPPS SSLPNPLLSR TLATSSLPLS PTLASNSQGS QGDQRTDRSA 490 500 510 520 530 540 PIRSASQAEE EPSVEPVKKS QHRSSSSAPH HNHRSGTSRG LSRQETFDSE TQESRDSAYV 550 560 570 580 590 600 EPKEDYSHDH VDHYASHRDH NHRDETHGSS DHRHRESRHR SRDVDREQDH NECNKQRSRH 610 620 630 KSKDRYCEKD GEVISKKRNE AGEWNRDVYI RQ
	Isoform 2e (CACNB2e) [UniParc]. Checksum: 1D60077179676927	FASTA	612	68,838
	10 20 30 40 50 60 MKATWIRLLK RAKGGRLKNS DICGSADSYT SRPSDSDVSL EEDREAVRRE AERQAQAQLE 70 80 90 100 110 120 KAKTKPVAFA VRTNVSYSAA HEDDVPVPGM AISFEAKDFL HVKEKFNNDW WIGRLVKEGC 130 140 150 160 170 180 EIGFIPSPVK LENMRLQHEQ RAKQGKFYSS KSGGNSSSSL GDIVPSSRKS TPPSSAIDID 190 200 210 220 230 240 ATGLDAEEND IPANHRSPKP SANSVTSPHS KEKRMPFFKK TEHTPPYDVV PSMRPVVLVG 250 260 270 280 290 300 PSLKGYEVTD MMQKALFDFL KHRFEGRISI TRVTADISLA KRSVLNNPSK HAIIERSNTR 310 320 330 340 350 360 SSLAEVQSEI ERIFELARTL QLVVLDADTI NHPAQLSKTS LAPIIVYVKI SSPKVLQRLI 370 380 390 400 410 420 KSRGKSQAKH LNVQMVAADK LAQCPPELFD VILDENQLED ACEHLADYLE AYWKATHPPS 430 440 450 460 470 480 SSLPNPLLSR TLATSSLPLS PTLASNSQGS QGDQRTDRSA PIRSASQAEE EPSVEPVKKS 490 500 510 520 530 540 QHRSSSSAPH HNHRSGTSRG LSRQETFDSE TQESRDSAYV EPKEDYSHDH VDHYASHRDH 550 560 570 580 590 600 NHRDETHGSS DHRHRESRHR SRDVDREQDH NECNKQRSRH KSKDRYCEKD GEVISKKRNE 610 AGEWNRDVYI RQ
	Isoform 2f [UniParc]. Checksum: CBCD97B7822B92E6	FASTA	567	64,010
	10 20 30 40 50 60 MQCCGLVHRR RVRVSYGSAD SYTSRPSDSD VSLEEDREAV RREAERQAQA QLEKAKTKPV 70 80 90 100 110 120 AFAVRTNVSY SAAHEDDVPV PGMAISFEAK DFLHVKEKFN NDWWIGRLVK EGCEIGFIPS 130 140 150 160 170 180 PVKLENMRLQ HEQRAKQGKF YSSKSGGNSS SSLGDIVPSS RKSTPPSSAK QKQKSTEHTP 190 200 210 220 230 240 PYDVVPSMRP VVLVGPSLKG YEVTDMMQKA LFDFLKHRFE GRISITRVTA DISLAKRSVL 250 260 270 280 290 300 NNPSKHAIIE RSNTRSSLAE VQSEIERIFE LARTLQLVVL DADTINHPAQ LSKTSLAPII 310 320 330 340 350 360 VYVKISSPKV LQRLIKSRGK SQAKHLNVQM VAADKLAQCP PELFDVILDE NQLEDACEHL 370 380 390 400 410 420 ADYLEAYWKA THPPSSSLPN PLLSRTLATS SLPLSPTLAS NSQGSQGDQR TDRSAPIRSA 430 440 450 460 470 480 SQAEEEPSVE PVKKSQHRSS SSAPHHNHRS GTSRGLSRQE TFDSETQESR DSAYVEPKED 490 500 510 520 530 540 YSHDHVDHYA SHRDHNHRDE THGSSDHRHR ESRHRSRDVD REQDHNECNK QRSRHKSKDR 550 560 YCEKDGEVIS KKRNEAGEWN RDVYIRQ
	Isoform 2g [UniParc]. Checksum: 9FBABEC5BE5DD074	FASTA	622	69,449
	10 20 30 40 50 60 MVQRDMSKSP PTAAAAVAQE IQMELLENVA PAGALGAAAQ SYGKGARRKN RFKGSDGSTS 70 80 90 100 110 120 SDTTSNSFVR QGSADSYTSR PSDSDVSLEE DREAVRREAE RQAQAQLEKA KTKPVAFAVR 130 140 150 160 170 180 TNVSYSAAHE DDVPVPGMAI SFEAKDFLHV KEKFNNDWWI GRLVKEGCEI GFIPSPVKLE 190 200 210 220 230 240 NMRLQHEQRA KQGKFYSSKS GGNSSSSLGD IVPSSRKSTP PSSAKQKQKS TEHTPPYDVV 250 260 270 280 290 300 PSMRPVVLVG PSLKGYEVTD MMQKALFDFL KHRFEGRISI TRVTADISLA KRSVLNNPSK 310 320 330 340 350 360 HAIIERSNTR SSLAEVQSEI ERIFELARTL QLVVLDADTI NHPAQLSKTS LAPIIVYVKI 370 380 390 400 410 420 SSPKVLQRLI KSRGKSQAKH LNVQMVAADK LAQCPPELFD VILDENQLED ACEHLADYLE 430 440 450 460 470 480 AYWKATHPPS SSLPNPLLSR TLATSSLPLS PTLASNSQGS QGDQRTDRSA PIRSASQAEE 490 500 510 520 530 540 EPSVEPVKKS QHRSSSSAPH HNHRSGTSRG LSRQETFDSE TQESRDSAYV EPKEDYSHDH 550 560 570 580 590 600 VDHYASHRDH NHRDETHGSS DHRHRESRHR SRDVDREQDH NECNKQRSRH KSKDRYCEKD 610 620 GEVISKKRNE AGEWNRDVYI RQ
	Isoform 2h [UniParc]. Checksum: 71521EDDD736A9CF	FASTA	636	71,075
	10 20 30 40 50 60 MVQRDMSKSP PTAAAAVAQE IQMELLENVA PAGALGAAAQ SYGKGARRKN RFKGSDGSTS 70 80 90 100 110 120 SDTTSNSFVR QGSADSYTSR PSDSDVSLEE DREAVRREAE RQAQAQLEKA KTKPVAFAVR 130 140 150 160 170 180 TNVSYSAAHE DDVPVPGMAI SFEAKDFLHV KEKFNNDWWI GRLVKEGCEI GFIPSPVKLE 190 200 210 220 230 240 NMRLQHEQRA KQGKFYSSKS GGNSSSSLGD IVPSSRKSTP PSSGAKSADE QDQWKTAGLF 250 260 270 280 290 300 WRFTTEHTPP YDVVPSMRPV VLVGPSLKGY EVTDMMQKAL FDFLKHRFEG RISITRVTAD 310 320 330 340 350 360 ISLAKRSVLN NPSKHAIIER SNTRSSLAEV QSEIERIFEL ARTLQLVVLD ADTINHPAQL 370 380 390 400 410 420 SKTSLAPIIV YVKISSPKVL QRLIKSRGKS QAKHLNVQMV AADKLAQCPP ELFDVILDEN 430 440 450 460 470 480 QLEDACEHLA DYLEAYWKAT HPPSSSLPNP LLSRTLATSS LPLSPTLASN SQGSQGDQRT 490 500 510 520 530 540 DRSAPIRSAS QAEEEPSVEP VKKSQHRSSS SAPHHNHRSG TSRGLSRQET FDSETQESRD 550 560 570 580 590 600 SAYVEPKEDY SHDHVDHYAS HRDHNHRDET HGSSDHRHRE SRHRSRDVDR EQDHNECNKQ 610 620 630 RSRHKSKDRY CEKDGEVISK KRNEAGEWNR DVYIRQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen." Rosenfeld M.R., Wong E., Dalmau J., Manley G., Posner J.B., Sher E., Furneaux H.M. Ann. Neurol. 33:113-120(1993) [PubMed: 8494331] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2A; 2G AND 2H). Tissue: Fetal brain.
[2]	"Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23." Taviaux S., Williams M.E., Harpold M.M., Nargeot J., Lory P. Hum. Genet. 100:151-154(1997) [PubMed: 9254841] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2A). Tissue: Brain.
[3]	"Cooperative effects of alpha2delta and beta2a subunits on surface expression of calcium channel alpha1c subunits." Mikala G., Yamaguchi H., Schwartz A. Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2A AND 2D).
[4]	"The beta 2 subunit of the voltage-dependent calcium channel (CACNB2): genomic structure and mutational analysis as a candidate gene for ARVD6." Li D., Roberts R. Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2A).
[5]	"Novel functional properties of Ca2+ channel beta subunits revealed by their expression in adult heart cells." Colecraft H.M., Mittman S., Takahashi S., Yue D.T. Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2A; 2B; 2C; 2D AND 2E).
[6]	"Human jejunum voltage-gated calcium channel subunits." Lyford G.L., Strege P., Shepard A., Miller S., Rae J., Gibbons S., Szurszewski J., Farrugia G. Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2F). Tissue: Jejunum.
[7]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[10]	"Dominant negative suppression of Rad leads to QT prolongation and causes ventricular arrhythmias via modulation of L-type Ca2+ channels in the heart." Yada H., Murata M., Shimoda K., Yuasa S., Kawaguchi H., Ieda M., Adachi T., Murata M., Ogawa S., Fukuda K. Circ. Res. 101:69-77(2007) [PubMed: 17525370] [Abstract] Cited for: INTERACTION WITH RRAD.
[11]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] GLY-99.
[12]	"Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death." Antzelevitch C., Pollevick G.D., Cordeiro J.M., Casis O., Sanguinetti M.C., Aizawa Y., Guerchicoff A., Pfeiffer R., Oliva A., Wollnik B., Gelber P., Bonaros E.P. Jr., Burashnikov E., Wu Y., Sargent J.D., Schickel S., Oberheiden R., Bhatia A. , Hsu L.F., Haissaguerre M., Schimpf R., Borggrefe M., Wolpert C. Circulation 115:442-449(2007) [PubMed: 17224476] [Abstract] Cited for: VARIANT BRGDA4 LEU-535, CHARACTERIZATION OF VARIANT BRGDA4 LEU-535.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	S60415 mRNA. Translation: AAB51370.1. Frameshift. U95019 mRNA. Translation: AAB53332.1. AF137376 mRNA. Translation: AAD33729.1. AF137377 mRNA. Translation: AAD33730.1. AY027898 , AY027893, AY027894, AY027895, AY027896, AY027897 Genomic DNA. Translation: AAK16994.1. AF423189 mRNA. Translation: AAL16948.1. AF423190 mRNA. Translation: AAL16949.1. AF423191 mRNA. Translation: AAL16950.1. AF423192 mRNA. Translation: AAL16951.1. AF285239 mRNA. Translation: AAG01473.2. AF465485 mRNA. Translation: AAL73495.1. AL360231 , AL139814, AL450364, AL450384 Genomic DNA. Translation: CAH70125.1. AL139814 , AL360231, AL450364, AL450384 Genomic DNA. Translation: CAH71352.1. AL450384 , AL139814, AL360231, AL450364 Genomic DNA. Translation: CAH73209.1. AL450364 , AL139814, AL360231, AL450384 Genomic DNA. Translation: CAI14734.1. AL390783 , AL139814, AL450364, AL450384 Genomic DNA. Translation: CAH70065.1. AL390783 , AL139814, AL450364, AL450384 Genomic DNA. Translation: CAH70066.1. AL360231 , AL139814, AL450364, AL450384 Genomic DNA. Translation: CAH70126.1. AL139814 , AL390783, AL450364, AL450384 Genomic DNA. Translation: CAH71350.1. AL139814 , AL390783, AL450364, AL450384 Genomic DNA. Translation: CAH71351.1. AL139814 , AL360231, AL450364, AL450384 Genomic DNA. Translation: CAH71353.1. AL450384 , AL139814, AL390783, AL450364 Genomic DNA. Translation: CAH73207.1. AL450384 , AL139814, AL390783, AL450364 Genomic DNA. Translation: CAH73208.1. AL450384 , AL139814, AL360231, AL450364 Genomic DNA. Translation: CAH73210.1. AL450364 , AL139814, AL390783, AL450384 Genomic DNA. Translation: CAI14732.1. AL450364 , AL139814, AL390783, AL450384 Genomic DNA. Translation: CAI14733.1. AL450364 , AL139814, AL360231, AL450384 Genomic DNA. Translation: CAI14735.1. AL390783 , AL139814, AL450364, AL450384 Genomic DNA. Translation: CAO03475.1. AL450384 , AL139814, AL360231, AL450364 Genomic DNA. Translation: CAO03513.1. AL450384 , AL139814, AL390783, AL450364 Genomic DNA. Translation: CAO03516.1. AL139814 , AL360231, AL450364, AL450384 Genomic DNA. Translation: CAO03603.1. AL139814 , AL390783, AL450364, AL450384 Genomic DNA. Translation: CAO03606.1. AL450364 , AL139814, AL360231, AL450384 Genomic DNA. Translation: CAO03634.1. AL450364 , AL139814, AL390783, AL450384 Genomic DNA. Translation: CAO03637.1. AL360231 , AL139814, AL450364, AL450384 Genomic DNA. Translation: CAO03672.1. CH471072 Genomic DNA. Translation: EAW86196.1. CH471072 Genomic DNA. Translation: EAW86197.1. BC136409 mRNA. Translation: AAI36410.1.
IPI	IPI00000867. IPI00218399. IPI00218400. IPI00218401. IPI00218402. IPI00218404. IPI00218405. IPI00409678.
PIR	A48895.
RefSeq	NP_000715.2. NM_000724.3. NP_963864.1. NM_201570.2. NP_963865.2. NM_201571.3. NP_963884.2. NM_201590.2. NP_963887.2. NM_201593.2. NP_963890.2. NM_201596.2. NP_963891.1. NM_201597.2.
UniGene	Hs.59093.
3D structure databases
ProteinModelPortal	Q08289.
SMR	Q08289. Positions 88-470.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q08289. 1 interaction.
STRING	Q08289.
Protein family/group databases
TCDB	8.A.22.2.1. Ca2+ channel auxiliary subunit beta types 1-4 (CCA-beta) family.
PTM databases
PhosphoSite	Q08289.
Polymorphism databases
DMDM	145559447.
Proteomic databases
PRIDE	Q08289.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000324631; ENSP00000320025; ENSG00000165995.
GeneID	783.
KEGG	hsa:783.
UCSC	uc001ipr.2. human. uc001ips.2. human. uc001ipt.2. human. uc001ipu.3. human. uc001ipw.2. human. uc001ipx.2. human. uc001ipy.2. human.
Organism-specific databases
CTD	783.
GeneCards	GC10P018469.
HGNC	HGNC:1402. CACNB2.
HPA	HPA035326.
MIM	600003. gene. 611876. phenotype.
neXtProt	NX_Q08289.
Orphanet	130. Brugada syndrome.
PharmGKB	PA88.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG326500.
GeneTree	ENSGT00390000002740.
HOVERGEN	HBG050765.
InParanoid	Q08289.
KO	K04863.
OMA	RHKSKDR.
OrthoDB	EOG4WQ12J.
PhylomeDB	Q08289.
Enzyme and pathway databases
Reactome	REACT_111045. Developmental Biology. REACT_111217. Metabolism. REACT_13685. Neuronal System.
Gene expression databases
ArrayExpress	Q08289.
Bgee	Q08289.
Genevestigator	Q08289.
GermOnline	ENSG00000165995. Homo sapiens.
Family and domain databases
InterPro	IPR008144. Guanylate_kin. IPR008145. Guanylate_kin/L-typ_Ca_channel. IPR001452. SH3_domain. IPR005444. VDCC_L_b2su. IPR000584. VDCC_L_bsu. [Graphical view]
PANTHER	PTHR11824. Ca_channel_B. 1 hit.
Pfam	PF00625. Guanylate_kin. 1 hit. PF12052. VGCC_beta4Aa_N. 1 hit. [Graphical view]
PRINTS	PR01626. LCACHANNELB. PR01628. LCACHANNELB2.
SMART	SM00072. GuKc. 1 hit. SM00326. SH3. 1 hit. [Graphical view]
SUPFAM	SSF50044. SH3. 1 hit.
PROSITE	PS50002. SH3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
DrugBank	DB00653. Magnesium Sulfate. DB00661. Verapamil.
NextBio	3172.
SOURCE	Search...

Entry information

Entry name

CACB2_HUMAN

Accession

Primary (citable) accession number: Q08289
Secondary accession number(s): A6PVM5 , A6PVM8, O00304, Q5VVG9, Q5VVH0, Q5VWV6, Q8WX81, Q96NZ3, Q96NZ4, Q96NZ5, Q9BWU2, Q9HD32, Q9Y340, Q9Y341

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1994
Last sequence update:	April 17, 2007
Last modified:	April 18, 2012
This is version 124 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.