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Q7Z3S7

- CA2D4_HUMAN

UniProt

Q7Z3S7 - CA2D4_HUMAN

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
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    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 cationBy similarity
    Metal bindingi299 – 2991Divalent metal cationBy similarity
    Metal bindingi301 – 3011Divalent metal cationBy 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

    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

    GO - Cellular componenti

    1. voltage-gated calcium channel complex Source: UniProt

    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 – 1919Sequence AnalysisAdd
    BLAST
    Chaini20 – 11371118Voltage-dependent calcium channel subunit alpha-2/delta-4PRO_0000304655Add
    BLAST
    Chaini20 – 991972Voltage-dependent calcium channel subunit alpha-2-4Sequence AnalysisPRO_0000304656Add
    BLAST
    Chaini992 – 1137146Voltage-dependent calcium channel subunit delta-4Sequence AnalysisPRO_0000304657Add
    BLAST

    Amino acid modifications

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

    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.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 Probable. Interacts with CACNA1C and CACNB3.1 PublicationCurated

    Protein-protein interaction databases

    STRINGi9606.ENSP00000372169.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7Z3S7.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini20 – 11151096ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1137 – 11371CytoplasmicSequence Analysis

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei1116 – 113621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini291 – 473183VWFAPROSITE-ProRule annotationAdd
    BLAST
    Domaini487 – 58094CacheAdd
    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.Curated
    Contains 1 VWFA domain.PROSITE-ProRule annotation

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti368 – 3681K → N in CAD97678. (PubMed:17974005)Curated
    Sequence conflicti650 – 6501V → A in AAN06672. (PubMed:12181424)Curated
    Sequence conflicti710 – 7101T → A in CAD97679. (PubMed:17974005)Curated
    Sequence conflicti879 – 8791C → Y in AAN06672. (PubMed:12181424)Curated
    Sequence conflicti1034 – 10341G → E in CAD97679. (PubMed:17974005)Curated

    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. 1 PublicationVSP_044107Add
    BLAST
    Alternative sequencei1 – 7676MVCGC…IPLET → MAVALGTRRRDR in isoform 4 and isoform 6. 1 PublicationVSP_028069Add
    BLAST
    Alternative sequencei872 – 88615Missing in isoform 7. 1 PublicationVSP_044108Add
    BLAST
    Alternative sequencei908 – 9114TGRF → SDYV in isoform 7. 1 PublicationVSP_044109
    Alternative sequencei912 – 1137226Missing in isoform 7. 1 PublicationVSP_044110Add
    BLAST
    Alternative sequencei975 – 1137163Missing in isoform 2. 1 PublicationVSP_028070Add
    BLAST
    Alternative sequencei1104 – 113734ENAQD…PQLLR → VRVEADRGWAGFSSPNPLCL GLCPCRQEHIGMPMNTPVPV LLGGNIRVYAL in isoform 5 and isoform 6. 1 PublicationVSP_028071Add
    BLAST

    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

    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: October 1, 2014
    This is version 87 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