O00305 (CACB4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Voltage-dependent L-type calcium channel subunit beta-4
Short name=CAB4

Alternative name(s):
Calcium channel voltage-dependent subunit beta 4

Gene names

Name:	CACNB4
Synonyms:	CACNLB4

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	520 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 FASLG. Ref.10
Tissue specificity	Expressed predominantly in the cerebellum and kidney.
Involvement in disease	Epilepsy, idiopathic generalized 9 (EIG9) [MIM:607682]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.9 Juvenile myoclonic epilepsy 6 (EJM6) [MIM:607682]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.9 Episodic ataxia 5 (EA5) [MIM:613855]: A disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9
Sequence similarities	Belongs to the calcium channel beta subunit family. Contains 1 SH3 domain.

Ontologies

Keywords
Biological process	Calcium transport Ion transport Transport
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Epilepsy
Domain	SH3 domain
Ligand	Calcium
Molecular function	Calcium channel Ion channel Voltage-gated channel
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Peyer's patch development Inferred from electronic annotation. Source: Compara T cell receptor signaling pathway Inferred from electronic annotation. Source: Compara adult walking behavior Inferred from electronic annotation. Source: Compara axon guidance Traceable author statement. Source: Reactome cAMP metabolic process Inferred from electronic annotation. Source: Compara cellular calcium ion homeostasis Inferred from electronic annotation. Source: Compara detection of light stimulus involved in visual perception Inferred from electronic annotation. Source: Compara gamma-aminobutyric acid secretion Inferred from electronic annotation. Source: Compara gamma-aminobutyric acid signaling pathway Inferred from electronic annotation. Source: Compara membrane depolarization Traceable author statement. Source: Reactome neuromuscular junction development Inferred from electronic annotation. Source: Compara neuronal action potential propagation Inferred from electronic annotation. Source: Compara spleen development Inferred from electronic annotation. Source: Compara synaptic transmission Traceable author statement. Source: Reactome synaptic transmission, glutamatergic Inferred from electronic annotation. Source: Compara thymus development Inferred from electronic annotation. Source: Compara transport Traceable author statement Ref.8. Source: ProtInc
Cellular_component	cytosol Traceable author statement. Source: Reactome internal side of plasma membrane Traceable author statement PubMed 16385006. Source: UniProtKB plasma membrane Inferred from direct assay PubMed 16525042PubMed 16525042. Source: UniProtKB synapse Inferred from direct assay PubMed 16525042. Source: UniProtKB voltage-gated calcium channel complex Inferred from direct assay PubMed 16525042. Source: UniProtKB
Molecular_function	voltage-gated calcium channel activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
SYT1	P21579	2	EBI-714855,EBI-524909

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O00305-1)

Also known as: 4b;

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 2 (identifier: O00305-2)

Also known as: 4a;

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQ → MYDNLYLHGIEDSEA

Isoform 3 (identifier: O00305-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MSSSSYAKNGTADGPHSPTSQ → MDV

Note: No experimental confirmation available.

Isoform 4 (identifier: O00305-4)

Also known as: 4d;

The sequence of this isoform differs from the canonical sequence as follows:
     373-434: Missing.

Note: Unable to interact with the alpha-1 subunit.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 520

520

Voltage-dependent L-type calcium channel subunit beta-4

PRO_0000144060

Regions

Domain

118 – 153

36

SH3

Amino acid modifications

Modified residue

39

1

Phosphoserine By similarity

Modified residue

406

1

Phosphoserine By similarity

Modified residue

411

1

Phosphothreonine By similarity

Modified residue

508

1

Phosphoserine By similarity

Natural variations

Alternative sequence

1 – 49

49

MSSSS…FILRQ → MYDNLYLHGIEDSEA in isoform 2.

VSP_000635

Alternative sequence

1 – 21

21

MSSSS…SPTSQ → MDV in isoform 3.

VSP_043192

Alternative sequence

373 – 434

62

Missing in isoform 4.

VSP_043193

Natural variant

104

1

C → F in EA5; associated with susceptibility to EIG9. Ref.9
Corresponds to variant rs1805031 [ dbSNP | Ensembl ].

VAR_013669

Experimental info

Sequence conflict

245

1

F → S in AAB53333. Ref.1

Sequence conflict

245

1

F → S in AAL14351. Ref.2

Sequence conflict

311

1

L → V in AAL14351. Ref.2

Sequence conflict

441

1

S → T in AAL14351. Ref.2

Isoform 2:

Sequence conflict

12

1

D → N in AAL14351. Ref.2

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

520

Helix Strand Turn

Details...

Beta strand

51 – 54

4

Beta strand

57 – 59

3

Helix

66 – 68

3

Turn

71 – 73

3

Helix

74 – 88

15

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (4b) [UniParc]. Last modified February 6, 2007. Version 2. Checksum: 21025FA9782347FA	FASTA	520	58,169
	10 20 30 40 50 60 MSSSSYAKNG TADGPHSPTS QVARGTTTRR SRLKRSDGST TSTSFILRQG SADSYTSRPS 70 80 90 100 110 120 DSDVSLEEDR EAIRQEREQQ AAIQLERAKS KPVAFAVKTN VSYCGALDED VPVPSTAISF 130 140 150 160 170 180 DAKDFLHIKE KYNNDWWIGR LVKEGCEIGF IPSPLRLENI RIQQEQKRGR FHGGKSSGNS 190 200 210 220 230 240 SSSLGEMVSG TFRATPTSTA KQKQKVTEHI PPYDVVPSMR PVVLVGPSLK GYEVTDMMQK 250 260 270 280 290 300 ALFDFLKHRF DGRISITRVT ADISLAKRSV LNNPSKRAII ERSNTRSSLA EVQSEIERIF 310 320 330 340 350 360 ELARSLQLVV LDADTINHPA QLIKTSLAPI IVHVKVSSPK VLQRLIKSRG KSQSKHLNVQ 370 380 390 400 410 420 LVAADKLAQC PPEMFDVILD ENQLEDACEH LGEYLEAYWR ATHTTSSTPM TPLLGRNLGS 430 440 450 460 470 480 TALSPYPTAI SGLQSQRMRH SNHSTENSPI ERRSLMTSDE NYHNERARKS RNRLSSSSQH 490 500 510 520 SRDHYPLVEE DYPDSYQDTY KPHRNRGSPG GYSHDSRHRL
	Isoform 2 (4a) [UniParc]. Checksum: 5E8F03EA98A88597	FASTA	486	54,707
	10 20 30 40 50 60 MYDNLYLHGI EDSEAGSADS YTSRPSDSDV SLEEDREAIR QEREQQAAIQ LERAKSKPVA 70 80 90 100 110 120 FAVKTNVSYC GALDEDVPVP STAISFDAKD FLHIKEKYNN DWWIGRLVKE GCEIGFIPSP 130 140 150 160 170 180 LRLENIRIQQ EQKRGRFHGG KSSGNSSSSL GEMVSGTFRA TPTSTAKQKQ KVTEHIPPYD 190 200 210 220 230 240 VVPSMRPVVL VGPSLKGYEV TDMMQKALFD FLKHRFDGRI SITRVTADIS LAKRSVLNNP 250 260 270 280 290 300 SKRAIIERSN TRSSLAEVQS EIERIFELAR SLQLVVLDAD TINHPAQLIK TSLAPIIVHV 310 320 330 340 350 360 KVSSPKVLQR LIKSRGKSQS KHLNVQLVAA DKLAQCPPEM FDVILDENQL EDACEHLGEY 370 380 390 400 410 420 LEAYWRATHT TSSTPMTPLL GRNLGSTALS PYPTAISGLQ SQRMRHSNHS TENSPIERRS 430 440 450 460 470 480 LMTSDENYHN ERARKSRNRL SSSSQHSRDH YPLVEEDYPD SYQDTYKPHR NRGSPGGYSH DSRHRL
	Isoform 3 [UniParc]. Checksum: 24BA6BA3A89A46BB	FASTA	502	56,422
	10 20 30 40 50 60 MDVVARGTTT RRSRLKRSDG STTSTSFILR QGSADSYTSR PSDSDVSLEE DREAIRQERE 70 80 90 100 110 120 QQAAIQLERA KSKPVAFAVK TNVSYCGALD EDVPVPSTAI SFDAKDFLHI KEKYNNDWWI 130 140 150 160 170 180 GRLVKEGCEI GFIPSPLRLE NIRIQQEQKR GRFHGGKSSG NSSSSLGEMV SGTFRATPTS 190 200 210 220 230 240 TAKQKQKVTE HIPPYDVVPS MRPVVLVGPS LKGYEVTDMM QKALFDFLKH RFDGRISITR 250 260 270 280 290 300 VTADISLAKR SVLNNPSKRA IIERSNTRSS LAEVQSEIER IFELARSLQL VVLDADTINH 310 320 330 340 350 360 PAQLIKTSLA PIIVHVKVSS PKVLQRLIKS RGKSQSKHLN VQLVAADKLA QCPPEMFDVI 370 380 390 400 410 420 LDENQLEDAC EHLGEYLEAY WRATHTTSST PMTPLLGRNL GSTALSPYPT AISGLQSQRM 430 440 450 460 470 480 RHSNHSTENS PIERRSLMTS DENYHNERAR KSRNRLSSSS QHSRDHYPLV EEDYPDSYQD 490 500 TYKPHRNRGS PGGYSHDSRH RL
	Isoform 4 (4d) [UniParc]. Checksum: 4AC560044A3BA110	FASTA	458	51,331
	10 20 30 40 50 60 MSSSSYAKNG TADGPHSPTS QVARGTTTRR SRLKRSDGST TSTSFILRQG SADSYTSRPS 70 80 90 100 110 120 DSDVSLEEDR EAIRQEREQQ AAIQLERAKS KPVAFAVKTN VSYCGALDED VPVPSTAISF 130 140 150 160 170 180 DAKDFLHIKE KYNNDWWIGR LVKEGCEIGF IPSPLRLENI RIQQEQKRGR FHGGKSSGNS 190 200 210 220 230 240 SSSLGEMVSG TFRATPTSTA KQKQKVTEHI PPYDVVPSMR PVVLVGPSLK GYEVTDMMQK 250 260 270 280 290 300 ALFDFLKHRF DGRISITRVT ADISLAKRSV LNNPSKRAII ERSNTRSSLA EVQSEIERIF 310 320 330 340 350 360 ELARSLQLVV LDADTINHPA QLIKTSLAPI IVHVKVSSPK VLQRLIKSRG KSQSKHLNVQ 370 380 390 400 410 420 LVAADKLAQC PPSQRMRHSN HSTENSPIER RSLMTSDENY HNERARKSRN RLSSSSQHSR 430 440 450 DHYPLVEEDY PDSYQDTYKP HRNRGSPGGY SHDSRHRL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"Alternative splicing of the beta 4 subunit has alpha 1 subunit subtype-specific effects on Ca2+ channel gating." Helton T.D., Horne W.A. J. Neurosci. 22:1573-1582(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING. Tissue: Spinal cord.
[3]	"The GK domain of the voltage-dependent calcium channel beta subunit is essential for binding to the alpha subunit." Kobayashi T., Yamada Y., Fukao M., Shiratori K., Tsutsuura M., Tanimoto K., Tohse N. Biochem. Biophys. Res. Commun. 360:679-683(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4). Tissue: Brain.
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3). Tissue: Amygdala and Hippocampus.
[5]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	Mural R.J., Istrail S., Sutton 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].
[7]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[8]	"Calcium channel beta4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic." Escayg A., Jones J.M., Kearney J.A., Hitchcock P.F., Meisler M.H. Genomics 50:14-22(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 9-520 (ISOFORM 1).
[9]	"Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia." Escayg A., De Waard M., Lee D.D., Bichet D., Wolf P., Mayer T., Johnston J., Baloh R., Sander T., Meisler M.H. Am. J. Hum. Genet. 66:1531-1539(2000) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EJM6 AND EIG9, VARIANT EA5 PHE-104.
[10]	"Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening." Voss M., Lettau M., Janssen O. BMC Immunol. 10:53-53(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH FASLG.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

U95020 mRNA. Translation: AAB53333.1.
AY054985 mRNA. Translation: AAL14351.1.
AB302276 mRNA. Translation: BAF73808.1.
AK290049 mRNA. Translation: BAF82738.1.
AK294398 mRNA. Translation: BAG57651.1.
AK316045 mRNA. Translation: BAH14416.1.
AC068547 Genomic DNA. No translation available.
AC079790 Genomic DNA. No translation available.
AC097448 Genomic DNA. No translation available.
CH471058 Genomic DNA. Translation: EAX11494.1.
BC075049 mRNA. Translation: AAH75049.1.
AF038852 mRNA. Translation: AAC24206.1.

IPI

IPI00011258.
IPI00332347.
IPI00924684.
IPI00927467.

RefSeq

NP_000717.2. NM_000726.3.
NP_001005746.1. NM_001005746.2.
NP_001005747.1. NM_001005747.2.
NP_001139270.1. NM_001145798.1.

UniGene

Hs.120725.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1VYV	X-ray	3.00	A/B	254-408	[»]
2D46	NMR	-	A	50-92	[»]

ProteinModelPortal

O00305.

ModBase

Search...

Protein-protein interaction databases

IntAct

O00305. 7 interactions.

MINT

MINT-1418672.

STRING

9606.ENSP00000343563.

Protein family/group databases

TCDB

8.A.22.4.1. Ca2+ channel auxiliary subunit beta types 1-4 (CCA-beta) family.

PTM databases

PhosphoSite

O00305.

Proteomic databases

PaxDb

O00305.

PRIDE

O00305.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000201943; ENSP00000201943; ENSG00000182389.
ENST00000427385; ENSP00000410978; ENSG00000182389.
ENST00000534999; ENSP00000443893; ENSG00000182389.
ENST00000539935; ENSP00000438949; ENSG00000182389.

GeneID

785.

KEGG

hsa:785.

UCSC

uc002txy.3. human.
uc002tya.3. human.

Organism-specific databases

CTD

785.

GeneCards

GC02M152659.

HGNC

HGNC:1404. CACNB4.

HPA

HPA015601.

MIM

601949. gene.
607682. phenotype.
613855. phenotype.

neXtProt

NX_O00305.

Orphanet

211067. Episodic ataxia type 5.
307. Juvenile myoclonic epilepsy.

PharmGKB

PA26014.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG326500.

HOGENOM

HOG000230979.

HOVERGEN

HBG050765.

InParanoid

O00305.

KO

K04865.

OrthoDB

EOG4GQQ4X.

Enzyme and pathway databases

Reactome

REACT_111045. Developmental Biology.
REACT_13685. Neuronal System.

Gene expression databases

ArrayExpress

O00305.

Bgee

O00305.

CleanEx

HS_CACNB4.

Genevestigator

O00305.

GermOnline

ENSG00000182389. Homo sapiens.

Family and domain databases

InterPro

IPR008144. Guanylate_kin.
IPR008145. Guanylate_kin/L-typ_Ca_channel.
IPR001452. SH3_domain.
IPR000584. VDCC_L_bsu.
[Graphical view]

PANTHER

PTHR11824. PTHR11824. 1 hit.

Pfam

PF00625. Guanylate_kin. 1 hit.
PF12052. VGCC_beta4Aa_N. 1 hit.
[Graphical view]

PRINTS

PR01626. LCACHANNELB.

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

ChiTaRS

CACNB4. human.

DrugBank

DB00661. Verapamil.

EvolutionaryTrace

O00305.

GenomeRNAi

785.

NextBio

3194.

SOURCE

Search...

Entry information

Entry name

CACB4_HUMAN

Accession

Primary (citable) accession number: O00305
Secondary accession number(s): A7BJ74 , A8K1Y4, B4DG40, O60515, Q6B000, Q96L40

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	February 6, 2007
Last modified:	May 1, 2013
This is version 139 of the entry and version 2 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.