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Q7Z3S7

- CA2D4_HUMAN

UniProt

Q7Z3S7 - CA2D4_HUMAN

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Protein
Voltage-dependent calcium channel subunit alpha-2/delta-4
Gene
CACNA2D4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi297 – 2971Divalent metal cation By similarity
Metal bindingi299 – 2991Divalent metal cation By similarity
Metal bindingi301 – 3011Divalent metal cation By similarity

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. voltage-gated calcium channel activity Source: UniProt

GO - Biological processi

  1. calcium ion transmembrane transport Source: UniProt
  2. detection of light stimulus involved in visual perception Source: UniProt
Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Ion channel, Voltage-gated channel

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium, Metal-binding

Protein family/group databases

TCDBi8.A.18.4.1. the ca(2+) channel auxiliary subunit 2 types 1-4 (cca-2) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Voltage-dependent calcium channel subunit alpha-2/delta-4
Alternative name(s):
Voltage-gated calcium channel subunit alpha-2/delta-4
Cleaved into the following 2 chains:
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:20202. CACNA2D4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini20 – 11151096Extracellular Reviewed prediction
Add
BLAST
Transmembranei1116 – 113621Helical; Reviewed prediction
Add
BLAST
Topological domaini1137 – 11371Cytoplasmic Reviewed prediction

GO - Cellular componenti

  1. voltage-gated calcium channel complex Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Retinal cone dystrophy 4 (RCD4) [MIM:610478]: Characterized by minimal symptoms except for slowly progressive reduction in visual acuity.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Organism-specific databases

MIMi610478. phenotype.
Orphaneti1872. Cone rod dystrophy.
215. Congenital stationary night blindness.
PharmGKBiPA130546913.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1919 Reviewed prediction
Add
BLAST
Chaini20 – 11371118Voltage-dependent calcium channel subunit alpha-2/delta-4
PRO_0000304655Add
BLAST
Chaini20 – 991972Voltage-dependent calcium channel subunit alpha-2-4 Reviewed prediction
PRO_0000304656Add
BLAST
Chaini992 – 1137146Voltage-dependent calcium channel subunit delta-4 Reviewed prediction
PRO_0000304657Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi201 – 2011N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi447 ↔ 1097Interchain (between alpha-2-4 and delta-4 chains) By similarity
Glycosylationi664 – 6641N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

May be proteolytically processed into subunits alpha-2-4 and delta-4 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role By similarity.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ7Z3S7.
PRIDEiQ7Z3S7.

PTM databases

PhosphoSiteiQ7Z3S7.

Expressioni

Tissue specificityi

Predominantly expressed in certain types of endocrine cells. Present in the Paneth cells of the small intestine. Also present in the erythroblasts in the fetal liver, in the cells of the zona reticularis of the adrenal gland and in the basophils of the pituitary. Present at low level in some brain regions such as the cerebellum (at protein level).1 Publication

Gene expression databases

ArrayExpressiQ7Z3S7.
BgeeiQ7Z3S7.
CleanExiHS_CACNA2D4.
GenevestigatoriQ7Z3S7.

Organism-specific databases

HPAiHPA031952.

Interactioni

Subunit structurei

Dimer formed of alpha-2-2 and delta-2 chains; disulfide-linked. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1 (CACNA1), alpha-2 (CACNA2D), beta (CACNB) and delta (CACNA2D) subunits in a 1:1:1:1 ratio Inferred. Interacts with CACNA1C and CACNB3.1 Publication

Protein-protein interaction databases

STRINGi9606.ENSP00000372169.

Structurei

3D structure databases

ProteinModelPortaliQ7Z3S7.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini291 – 473183VWFA
Add
BLAST
Domaini487 – 58094Cache
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi297 – 3015MIDAS-like motif

Domaini

The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha-1 (CACNA1) subunit to the plasma membrane by an integrin-like switch By similarity.

Sequence similaritiesi

Contains 1 cache domain.
Contains 1 VWFA domain.

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG307080.
HOGENOMiHOG000010247.
HOVERGENiHBG107124.
InParanoidiQ7Z3S7.
KOiK04861.
OMAiFTMDHFP.
PhylomeDBiQ7Z3S7.
TreeFamiTF315824.

Family and domain databases

Gene3Di3.40.50.410. 1 hit.
InterProiIPR004010. Cache_domain.
IPR013608. VWA_N.
IPR002035. VWF_A.
[Graphical view]
PfamiPF02743. Cache_1. 1 hit.
PF08399. VWA_N. 1 hit.
[Graphical view]
SMARTiSM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 1 hit.
PROSITEiPS50234. VWFA. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q7Z3S7-1) [UniParc]FASTAAdd to Basket

Also known as: Alpha2delta-4a

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.

« Hide

MVCGCSALLP LPNPRPTMPA TPNFLANPSS SSRWIPLQPM PVAWAFVQKT     50
SALLWLLLLG TSLSPAWGQA KIPLETVKLW ADTFGGDLYN TVTKYSGSLL 100
LQKKYKDVES SLKIEEVDGL ELVRKFSEDM ENMLRRKVEA VQNLVEAAEE 150
ADLNHEFNES LVFDYYNSVL INERDEKGNF VELGAEFLLE SNAHFSNLPV 200
NTSISSVQLP TNVYNKDPDI LNGVYMSEAL NAVFVENFQR DPTLTWQYFG 250
SATGFFRIYP GIKWTPDENG VITFDCRNRG WYIQAATSPK DIVILVDVSG 300
SMKGLRMTIA KHTITTILDT LGENDFINII AYNDYVHYIE PCFKGILVQA 350
DRDNREHFKL LVEELMVKGV GVVDQALREA FQILKQFQEA KQGSLCNQAI 400
MLISDGAVED YEPVFEKYNW PDCKVRVFTY LIGREVSFAD RMKWIACNNK 450
GYYTQISTLA DTQENVMEYL HVLSRPMVIN HDHDIIWTEA YMDSKLLSSQ 500
AQSLTLLTTV AMPVFSKKNE TRSHGILLGV VGSDVALREL MKLAPRYKLG 550
VHGYAFLNTN NGYILSHPDL RPLYREGKKL KPKPNYNSVD LSEVEWEDQA 600
ESLRTAMINR ETGTLSMDVK VPMDKGKRVL FLTNDYFFTD ISDTPFSLGV 650
VLSRGHGEYI LLGNTSVEEG LHDLLHPDLA LAGDWIYCIT DIDPDHRKLS 700
QLEAMIRFLT RKDPDLECDE ELVREVLFDA VVTAPMEAYW TALALNMSEE 750
SEHVVDMAFL GTRAGLLRSS LFVGSEKVSD RKFLTPEDEA SVFTLDRFPL 800
WYRQASEHPA GSFVFNLRWA EGPESAGEPM VVTASTAVAV TVDKRTAIAA 850
AAGVQMKLEF LQRKFWAATR QCSTVDGPCT QSCEDSDLDC FVIDNNGFIL 900
ISKRSRETGR FLGEVDGAVL TQLLSMGVFS QVTMYDYQAM CKPSSHHHSA 950
AQPLVSPISA FLTATRWLLQ ELVLFLLEWS VWGSWYDRGA EAKSVFHHSH 1000
KHKKQDPLQP CDTEYPVFVY QPAIREANGI VECGPCQKVF VVQQIPNSNL 1050
LLLVTDPTCD CSIFPPVLQE ATEVKYNASV KCDRMRSQKL RRRPDSCHAF 1100
HPEENAQDCG GASDTSASPP LLLLPVCAWG LLPQLLR 1137
Length:1,137
Mass (Da):127,938
Last modified:May 18, 2010 - v2
Checksum:iBF7FD169E1AF34F7
GO
Isoform 2 (identifier: Q7Z3S7-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     975-1137: Missing.

Note: No experimental confirmation available. May be due to an intron retention.

Show »
Length:974
Mass (Da):109,597
Checksum:i4C32DE661B46D266
GO
Isoform 4 (identifier: Q7Z3S7-4) [UniParc]FASTAAdd to Basket

Also known as: Alpha2delta-4b

The sequence of this isoform differs from the canonical sequence as follows:
     1-76: MVCGCSALLP...WGQAKIPLET → MAVALGTRRRDR

Show »
Length:1,073
Mass (Da):121,156
Checksum:iB7D8BA5A62F9D13D
GO
Isoform 5 (identifier: Q7Z3S7-5) [UniParc]FASTAAdd to Basket

Also known as: Alpha2delta-4c

The sequence of this isoform differs from the canonical sequence as follows:
     1104-1137: ENAQDCGGASDTSASPPLLLLPVCAWGLLPQLLR → VRVEADRGWA...LGGNIRVYAL

Show »
Length:1,154
Mass (Da):129,938
Checksum:iAEE808DF16BAE995
GO
Isoform 6 (identifier: Q7Z3S7-6) [UniParc]FASTAAdd to Basket

Also known as: Alpha2delta-4d

The sequence of this isoform differs from the canonical sequence as follows:
     1-76: MVCGCSALLP...WGQAKIPLET → MAVALGTRRRDR
     1104-1137: ENAQDCGGASDTSASPPLLLLPVCAWGLLPQLLR → VRVEADRGWA...LGGNIRVYAL

Show »
Length:1,090
Mass (Da):123,155
Checksum:i145BCC542E24E4C4
GO
Isoform 7 (identifier: Q7Z3S7-7) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-855: Missing.
     872-886: Missing.
     908-911: TGRF → SDYV
     912-1137: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:41
Mass (Da):4,955
Checksum:i6189BCF6FD9B7870
GO

Sequence cautioni

The sequence AAN06672.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti327 – 3271I → V.2 Publications
Corresponds to variant rs10735005 [ dbSNP | Ensembl ].
VAR_035049
Natural varianti863 – 8631R → H.
Corresponds to variant rs36077411 [ dbSNP | Ensembl ].
VAR_035050
Natural varianti869 – 8691T → M.
Corresponds to variant rs35331095 [ dbSNP | Ensembl ].
VAR_035051

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 855855Missing in isoform 7.
VSP_044107Add
BLAST
Alternative sequencei1 – 7676MVCGC…IPLET → MAVALGTRRRDR in isoform 4 and isoform 6.
VSP_028069Add
BLAST
Alternative sequencei872 – 88615Missing in isoform 7.
VSP_044108Add
BLAST
Alternative sequencei908 – 9114TGRF → SDYV in isoform 7.
VSP_044109
Alternative sequencei912 – 1137226Missing in isoform 7.
VSP_044110Add
BLAST
Alternative sequencei975 – 1137163Missing in isoform 2.
VSP_028070Add
BLAST
Alternative sequencei1104 – 113734ENAQD…PQLLR → VRVEADRGWAGFSSPNPLCL GLCPCRQEHIGMPMNTPVPV LLGGNIRVYAL in isoform 5 and isoform 6.
VSP_028071Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti368 – 3681K → N in CAD97678. 1 Publication
Sequence conflicti650 – 6501V → A in AAN06672. 1 Publication
Sequence conflicti710 – 7101T → A in CAD97679. 1 Publication
Sequence conflicti879 – 8791C → Y in AAN06672. 1 Publication
Sequence conflicti1034 – 10341G → E in CAD97679. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF516695 mRNA. Translation: AAN06672.1. Different initiation.
BX537436 mRNA. Translation: CAD97678.1.
BX537437 mRNA. Translation: CAD97679.1.
AC005342 Genomic DNA. No translation available.
AC005343 Genomic DNA. No translation available.
BC048288 mRNA. Translation: AAH48288.1. Sequence problems.
CCDSiCCDS44785.1. [Q7Z3S7-1]
RefSeqiNP_758952.4. NM_172364.4. [Q7Z3S7-1]
UniGeneiHs.13768.

Genome annotation databases

EnsembliENST00000382722; ENSP00000372169; ENSG00000151062. [Q7Z3S7-1]
ENST00000545595; ENSP00000442329; ENSG00000151062. [Q7Z3S7-7]
ENST00000585708; ENSP00000467697; ENSG00000151062. [Q7Z3S7-6]
ENST00000586184; ENSP00000465060; ENSG00000151062. [Q7Z3S7-5]
ENST00000588077; ENSP00000468530; ENSG00000151062. [Q7Z3S7-4]
GeneIDi93589.
KEGGihsa:93589.
UCSCiuc009zdt.1. human. [Q7Z3S7-1]

Polymorphism databases

DMDMi296434419.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF516695 mRNA. Translation: AAN06672.1 . Different initiation.
BX537436 mRNA. Translation: CAD97678.1 .
BX537437 mRNA. Translation: CAD97679.1 .
AC005342 Genomic DNA. No translation available.
AC005343 Genomic DNA. No translation available.
BC048288 mRNA. Translation: AAH48288.1 . Sequence problems.
CCDSi CCDS44785.1. [Q7Z3S7-1 ]
RefSeqi NP_758952.4. NM_172364.4. [Q7Z3S7-1 ]
UniGenei Hs.13768.

3D structure databases

ProteinModelPortali Q7Z3S7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000372169.

Chemistry

ChEMBLi CHEMBL2363032.

Protein family/group databases

TCDBi 8.A.18.4.1. the ca(2+) channel auxiliary subunit 2 types 1-4 (cca-2) family.

PTM databases

PhosphoSitei Q7Z3S7.

Polymorphism databases

DMDMi 296434419.

Proteomic databases

PaxDbi Q7Z3S7.
PRIDEi Q7Z3S7.

Protocols and materials databases

DNASUi 93589.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000382722 ; ENSP00000372169 ; ENSG00000151062 . [Q7Z3S7-1 ]
ENST00000545595 ; ENSP00000442329 ; ENSG00000151062 . [Q7Z3S7-7 ]
ENST00000585708 ; ENSP00000467697 ; ENSG00000151062 . [Q7Z3S7-6 ]
ENST00000586184 ; ENSP00000465060 ; ENSG00000151062 . [Q7Z3S7-5 ]
ENST00000588077 ; ENSP00000468530 ; ENSG00000151062 . [Q7Z3S7-4 ]
GeneIDi 93589.
KEGGi hsa:93589.
UCSCi uc009zdt.1. human. [Q7Z3S7-1 ]

Organism-specific databases

CTDi 93589.
GeneCardsi GC12M001901.
H-InvDB HIX0010321.
HIX0171624.
HGNCi HGNC:20202. CACNA2D4.
HPAi HPA031952.
MIMi 608171. gene.
610478. phenotype.
neXtProti NX_Q7Z3S7.
Orphaneti 1872. Cone rod dystrophy.
215. Congenital stationary night blindness.
PharmGKBi PA130546913.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG307080.
HOGENOMi HOG000010247.
HOVERGENi HBG107124.
InParanoidi Q7Z3S7.
KOi K04861.
OMAi FTMDHFP.
PhylomeDBi Q7Z3S7.
TreeFami TF315824.

Miscellaneous databases

GenomeRNAii 93589.
NextBioi 78139.
PROi Q7Z3S7.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q7Z3S7.
Bgeei Q7Z3S7.
CleanExi HS_CACNA2D4.
Genevestigatori Q7Z3S7.

Family and domain databases

Gene3Di 3.40.50.410. 1 hit.
InterProi IPR004010. Cache_domain.
IPR013608. VWA_N.
IPR002035. VWF_A.
[Graphical view ]
Pfami PF02743. Cache_1. 1 hit.
PF08399. VWA_N. 1 hit.
[Graphical view ]
SMARTi SM00327. VWA. 1 hit.
[Graphical view ]
SUPFAMi SSF53300. SSF53300. 1 hit.
PROSITEi PS50234. VWFA. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and characterization of the human voltage-gated calcium channel alpha(2)delta-4 subunit."
    Qin N., Yagel S., Momplaisir M.-L., Codd E.E., D'Andrea M.R.
    Mol. Pharmacol. 62:485-496(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 4; 5 AND 6), FUNCTION, TISSUE SPECIFICITY, LACK OF GABAPENTIN-BINDING, INTERACTION WITH CACNA1C AND CACNB3, VARIANT VAL-327.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT VAL-327.
    Tissue: Retina.
  3. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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 7).
    Tissue: Blood.
  5. "Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy."
    Wycisk K.A., Zeitz C., Feil S., Wittmer M., Forster U., Neidhardt J., Wissinger B., Zrenner E., Wilke R., Kohl S., Berger W.
    Am. J. Hum. Genet. 79:973-977(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN RDC4.

Entry informationi

Entry nameiCA2D4_HUMAN
AccessioniPrimary (citable) accession number: Q7Z3S7
Secondary accession number(s): Q7Z3S8, Q86XZ5, Q8IZS9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 86 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Miscellaneous

In contrast to CACNA2D1 and CACNA2D2, it does not bind gabapentin, an antiepileptic drug.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi