Q7Z3S7 (CA2D4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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:

1. Voltage-dependent calcium channel subunit alpha-2-4
2. Voltage-dependent calcium channel subunit delta-4

Gene names

Name:

CACNA2D4

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	1137 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Ref.1
Subunit structure	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. Ref.1
Subcellular location	Membrane; Single-pass type I membrane protein Potential.
Tissue specificity	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). Ref.1
Domain	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.
Post-translational modification	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.
Involvement in disease	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.
Miscellaneous	In contrast to CACNA2D1 and CACNA2D2, it does not bind gabapentin, an antiepileptic drug.
Sequence similarities	Belongs to the calcium channel subunit alpha-2/delta family. Contains 1 cache domain. Contains 1 VWFA domain.
Sequence caution	The sequence AAH48288.1 differs from that shown. Reason: Erroneous translation. Wrong choice of frame. The sequence AAN06672.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Biological process	Calcium transport Ion transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal Transmembrane Transmembrane helix
Ligand	Calcium Metal-binding
Molecular function	Calcium channel Ion channel Voltage-gated channel
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	calcium channel activity Inferred from electronic annotation. Source: UniProtKB-KW metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW voltage-gated ion channel activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q7Z3S7-1)

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.

Isoform 2 (identifier: Q7Z3S7-2)

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.

Isoform 4 (identifier: Q7Z3S7-4)

Also known as: Alpha2delta-4b;

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

Isoform 5 (identifier: Q7Z3S7-5)

Also known as: Alpha2delta-4c;

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

Isoform 6 (identifier: Q7Z3S7-6)

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

Isoform 7 (identifier: Q7Z3S7-7)

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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 19	19	Potential
	Chain	20 – 1137	1118	Voltage-dependent calcium channel subunit alpha-2/delta-4		PRO_0000304655
	Chain	20 – 991	972	Voltage-dependent calcium channel subunit alpha-2-4 Potential		PRO_0000304656
	Chain	992 – 1137	146	Voltage-dependent calcium channel subunit delta-4 Potential		PRO_0000304657
Regions
	Topological domain	20 – 1115	1096	Extracellular Potential
	Transmembrane	1116 – 1136	21	Helical; Potential
	Topological domain	1137	1	Cytoplasmic Potential
	Domain	291 – 473	183	VWFA
	Domain	487 – 580	94	Cache
	Motif	297 – 301	5	MIDAS-like motif
Sites
	Metal binding	297	1	Divalent metal cation By similarity
	Metal binding	299	1	Divalent metal cation By similarity
	Metal binding	301	1	Divalent metal cation By similarity
Amino acid modifications
	Glycosylation	201	1	N-linked (GlcNAc...) Potential
	Glycosylation	664	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 855	855	Missing in isoform 7.		VSP_044107
	Alternative sequence	1 – 76	76	MVCGC…IPLET → MAVALGTRRRDR in isoform 4 and isoform 6.		VSP_028069
	Alternative sequence	872 – 886	15	Missing in isoform 7.		VSP_044108
	Alternative sequence	908 – 911	4	TGRF → SDYV in isoform 7.		VSP_044109
	Alternative sequence	912 – 1137	226	Missing in isoform 7.		VSP_044110
	Alternative sequence	975 – 1137	163	Missing in isoform 2.		VSP_028070
	Alternative sequence	1104 – 1137	34	ENAQD…PQLLR → VRVEADRGWAGFSSPNPLCL GLCPCRQEHIGMPMNTPVPV LLGGNIRVYAL in isoform 5 and isoform 6.		VSP_028071
	Natural variant	327	1	I → V. Ref.1 Ref.2 Corresponds to variant rs10735005 [ dbSNP | Ensembl ].		VAR_035049
	Natural variant	863	1	R → H. Corresponds to variant rs36077411 [ dbSNP | Ensembl ].		VAR_035050
	Natural variant	869	1	T → M. Corresponds to variant rs35331095 [ dbSNP | Ensembl ].		VAR_035051
Experimental info
	Sequence conflict	368	1	K → N in CAD97678. Ref.2
	Sequence conflict	650	1	V → A in AAN06672. Ref.1
	Sequence conflict	710	1	T → A in CAD97679. Ref.2
	Sequence conflict	879	1	C → Y in AAN06672. Ref.1
	Sequence conflict	1034	1	G → E in CAD97679. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Alpha2delta-4a) [UniParc]. Last modified May 18, 2010. Version 2. Checksum: BF7FD169E1AF34F7	FASTA	1,137	127,938
	10 20 30 40 50 60 MVCGCSALLP LPNPRPTMPA TPNFLANPSS SSRWIPLQPM PVAWAFVQKT SALLWLLLLG 70 80 90 100 110 120 TSLSPAWGQA KIPLETVKLW ADTFGGDLYN TVTKYSGSLL LQKKYKDVES SLKIEEVDGL 130 140 150 160 170 180 ELVRKFSEDM ENMLRRKVEA VQNLVEAAEE ADLNHEFNES LVFDYYNSVL INERDEKGNF 190 200 210 220 230 240 VELGAEFLLE SNAHFSNLPV NTSISSVQLP TNVYNKDPDI LNGVYMSEAL NAVFVENFQR 250 260 270 280 290 300 DPTLTWQYFG SATGFFRIYP GIKWTPDENG VITFDCRNRG WYIQAATSPK DIVILVDVSG 310 320 330 340 350 360 SMKGLRMTIA KHTITTILDT LGENDFINII AYNDYVHYIE PCFKGILVQA DRDNREHFKL 370 380 390 400 410 420 LVEELMVKGV GVVDQALREA FQILKQFQEA KQGSLCNQAI MLISDGAVED YEPVFEKYNW 430 440 450 460 470 480 PDCKVRVFTY LIGREVSFAD RMKWIACNNK GYYTQISTLA DTQENVMEYL HVLSRPMVIN 490 500 510 520 530 540 HDHDIIWTEA YMDSKLLSSQ AQSLTLLTTV AMPVFSKKNE TRSHGILLGV VGSDVALREL 550 560 570 580 590 600 MKLAPRYKLG VHGYAFLNTN NGYILSHPDL RPLYREGKKL KPKPNYNSVD LSEVEWEDQA 610 620 630 640 650 660 ESLRTAMINR ETGTLSMDVK VPMDKGKRVL FLTNDYFFTD ISDTPFSLGV VLSRGHGEYI 670 680 690 700 710 720 LLGNTSVEEG LHDLLHPDLA LAGDWIYCIT DIDPDHRKLS QLEAMIRFLT RKDPDLECDE 730 740 750 760 770 780 ELVREVLFDA VVTAPMEAYW TALALNMSEE SEHVVDMAFL GTRAGLLRSS LFVGSEKVSD 790 800 810 820 830 840 RKFLTPEDEA SVFTLDRFPL WYRQASEHPA GSFVFNLRWA EGPESAGEPM VVTASTAVAV 850 860 870 880 890 900 TVDKRTAIAA AAGVQMKLEF LQRKFWAATR QCSTVDGPCT QSCEDSDLDC FVIDNNGFIL 910 920 930 940 950 960 ISKRSRETGR FLGEVDGAVL TQLLSMGVFS QVTMYDYQAM CKPSSHHHSA AQPLVSPISA 970 980 990 1000 1010 1020 FLTATRWLLQ ELVLFLLEWS VWGSWYDRGA EAKSVFHHSH KHKKQDPLQP CDTEYPVFVY 1030 1040 1050 1060 1070 1080 QPAIREANGI VECGPCQKVF VVQQIPNSNL LLLVTDPTCD CSIFPPVLQE ATEVKYNASV 1090 1100 1110 1120 1130 KCDRMRSQKL RRRPDSCHAF HPEENAQDCG GASDTSASPP LLLLPVCAWG LLPQLLR
	Isoform 2 [UniParc]. Checksum: 4C32DE661B46D266	FASTA	974	109,597
	10 20 30 40 50 60 MVCGCSALLP LPNPRPTMPA TPNFLANPSS SSRWIPLQPM PVAWAFVQKT SALLWLLLLG 70 80 90 100 110 120 TSLSPAWGQA KIPLETVKLW ADTFGGDLYN TVTKYSGSLL LQKKYKDVES SLKIEEVDGL 130 140 150 160 170 180 ELVRKFSEDM ENMLRRKVEA VQNLVEAAEE ADLNHEFNES LVFDYYNSVL INERDEKGNF 190 200 210 220 230 240 VELGAEFLLE SNAHFSNLPV NTSISSVQLP TNVYNKDPDI LNGVYMSEAL NAVFVENFQR 250 260 270 280 290 300 DPTLTWQYFG SATGFFRIYP GIKWTPDENG VITFDCRNRG WYIQAATSPK DIVILVDVSG 310 320 330 340 350 360 SMKGLRMTIA KHTITTILDT LGENDFINII AYNDYVHYIE PCFKGILVQA DRDNREHFKL 370 380 390 400 410 420 LVEELMVKGV GVVDQALREA FQILKQFQEA KQGSLCNQAI MLISDGAVED YEPVFEKYNW 430 440 450 460 470 480 PDCKVRVFTY LIGREVSFAD RMKWIACNNK GYYTQISTLA DTQENVMEYL HVLSRPMVIN 490 500 510 520 530 540 HDHDIIWTEA YMDSKLLSSQ AQSLTLLTTV AMPVFSKKNE TRSHGILLGV VGSDVALREL 550 560 570 580 590 600 MKLAPRYKLG VHGYAFLNTN NGYILSHPDL RPLYREGKKL KPKPNYNSVD LSEVEWEDQA 610 620 630 640 650 660 ESLRTAMINR ETGTLSMDVK VPMDKGKRVL FLTNDYFFTD ISDTPFSLGV VLSRGHGEYI 670 680 690 700 710 720 LLGNTSVEEG LHDLLHPDLA LAGDWIYCIT DIDPDHRKLS QLEAMIRFLT RKDPDLECDE 730 740 750 760 770 780 ELVREVLFDA VVTAPMEAYW TALALNMSEE SEHVVDMAFL GTRAGLLRSS LFVGSEKVSD 790 800 810 820 830 840 RKFLTPEDEA SVFTLDRFPL WYRQASEHPA GSFVFNLRWA EGPESAGEPM VVTASTAVAV 850 860 870 880 890 900 TVDKRTAIAA AAGVQMKLEF LQRKFWAATR QCSTVDGPCT QSCEDSDLDC FVIDNNGFIL 910 920 930 940 950 960 ISKRSRETGR FLGEVDGAVL TQLLSMGVFS QVTMYDYQAM CKPSSHHHSA AQPLVSPISA 970 FLTATRWLLQ ELVL
	Isoform 4 (Alpha2delta-4b) [UniParc]. Checksum: B7D8BA5A62F9D13D	FASTA	1,073	121,156
	10 20 30 40 50 60 MAVALGTRRR DRVKLWADTF GGDLYNTVTK YSGSLLLQKK YKDVESSLKI EEVDGLELVR 70 80 90 100 110 120 KFSEDMENML RRKVEAVQNL VEAAEEADLN HEFNESLVFD YYNSVLINER DEKGNFVELG 130 140 150 160 170 180 AEFLLESNAH FSNLPVNTSI SSVQLPTNVY NKDPDILNGV YMSEALNAVF VENFQRDPTL 190 200 210 220 230 240 TWQYFGSATG FFRIYPGIKW TPDENGVITF DCRNRGWYIQ AATSPKDIVI LVDVSGSMKG 250 260 270 280 290 300 LRMTIAKHTI TTILDTLGEN DFINIIAYND YVHYIEPCFK GILVQADRDN REHFKLLVEE 310 320 330 340 350 360 LMVKGVGVVD QALREAFQIL KQFQEAKQGS LCNQAIMLIS DGAVEDYEPV FEKYNWPDCK 370 380 390 400 410 420 VRVFTYLIGR EVSFADRMKW IACNNKGYYT QISTLADTQE NVMEYLHVLS RPMVINHDHD 430 440 450 460 470 480 IIWTEAYMDS KLLSSQAQSL TLLTTVAMPV FSKKNETRSH GILLGVVGSD VALRELMKLA 490 500 510 520 530 540 PRYKLGVHGY AFLNTNNGYI LSHPDLRPLY REGKKLKPKP NYNSVDLSEV EWEDQAESLR 550 560 570 580 590 600 TAMINRETGT LSMDVKVPMD KGKRVLFLTN DYFFTDISDT PFSLGVVLSR GHGEYILLGN 610 620 630 640 650 660 TSVEEGLHDL LHPDLALAGD WIYCITDIDP DHRKLSQLEA MIRFLTRKDP DLECDEELVR 670 680 690 700 710 720 EVLFDAVVTA PMEAYWTALA LNMSEESEHV VDMAFLGTRA GLLRSSLFVG SEKVSDRKFL 730 740 750 760 770 780 TPEDEASVFT LDRFPLWYRQ ASEHPAGSFV FNLRWAEGPE SAGEPMVVTA STAVAVTVDK 790 800 810 820 830 840 RTAIAAAAGV QMKLEFLQRK FWAATRQCST VDGPCTQSCE DSDLDCFVID NNGFILISKR 850 860 870 880 890 900 SRETGRFLGE VDGAVLTQLL SMGVFSQVTM YDYQAMCKPS SHHHSAAQPL VSPISAFLTA 910 920 930 940 950 960 TRWLLQELVL FLLEWSVWGS WYDRGAEAKS VFHHSHKHKK QDPLQPCDTE YPVFVYQPAI 970 980 990 1000 1010 1020 REANGIVECG PCQKVFVVQQ IPNSNLLLLV TDPTCDCSIF PPVLQEATEV KYNASVKCDR 1030 1040 1050 1060 1070 MRSQKLRRRP DSCHAFHPEE NAQDCGGASD TSASPPLLLL PVCAWGLLPQ LLR
	Isoform 5 (Alpha2delta-4c) [UniParc]. Checksum: AEE808DF16BAE995	FASTA	1,154	129,938
	10 20 30 40 50 60 MVCGCSALLP LPNPRPTMPA TPNFLANPSS SSRWIPLQPM PVAWAFVQKT SALLWLLLLG 70 80 90 100 110 120 TSLSPAWGQA KIPLETVKLW ADTFGGDLYN TVTKYSGSLL LQKKYKDVES SLKIEEVDGL 130 140 150 160 170 180 ELVRKFSEDM ENMLRRKVEA VQNLVEAAEE ADLNHEFNES LVFDYYNSVL INERDEKGNF 190 200 210 220 230 240 VELGAEFLLE SNAHFSNLPV NTSISSVQLP TNVYNKDPDI LNGVYMSEAL NAVFVENFQR 250 260 270 280 290 300 DPTLTWQYFG SATGFFRIYP GIKWTPDENG VITFDCRNRG WYIQAATSPK DIVILVDVSG 310 320 330 340 350 360 SMKGLRMTIA KHTITTILDT LGENDFINII AYNDYVHYIE PCFKGILVQA DRDNREHFKL 370 380 390 400 410 420 LVEELMVKGV GVVDQALREA FQILKQFQEA KQGSLCNQAI MLISDGAVED YEPVFEKYNW 430 440 450 460 470 480 PDCKVRVFTY LIGREVSFAD RMKWIACNNK GYYTQISTLA DTQENVMEYL HVLSRPMVIN 490 500 510 520 530 540 HDHDIIWTEA YMDSKLLSSQ AQSLTLLTTV AMPVFSKKNE TRSHGILLGV VGSDVALREL 550 560 570 580 590 600 MKLAPRYKLG VHGYAFLNTN NGYILSHPDL RPLYREGKKL KPKPNYNSVD LSEVEWEDQA 610 620 630 640 650 660 ESLRTAMINR ETGTLSMDVK VPMDKGKRVL FLTNDYFFTD ISDTPFSLGV VLSRGHGEYI 670 680 690 700 710 720 LLGNTSVEEG LHDLLHPDLA LAGDWIYCIT DIDPDHRKLS QLEAMIRFLT RKDPDLECDE 730 740 750 760 770 780 ELVREVLFDA VVTAPMEAYW TALALNMSEE SEHVVDMAFL GTRAGLLRSS LFVGSEKVSD 790 800 810 820 830 840 RKFLTPEDEA SVFTLDRFPL WYRQASEHPA GSFVFNLRWA EGPESAGEPM VVTASTAVAV 850 860 870 880 890 900 TVDKRTAIAA AAGVQMKLEF LQRKFWAATR QCSTVDGPCT QSCEDSDLDC FVIDNNGFIL 910 920 930 940 950 960 ISKRSRETGR FLGEVDGAVL TQLLSMGVFS QVTMYDYQAM CKPSSHHHSA AQPLVSPISA 970 980 990 1000 1010 1020 FLTATRWLLQ ELVLFLLEWS VWGSWYDRGA EAKSVFHHSH KHKKQDPLQP CDTEYPVFVY 1030 1040 1050 1060 1070 1080 QPAIREANGI VECGPCQKVF VVQQIPNSNL LLLVTDPTCD CSIFPPVLQE ATEVKYNASV 1090 1100 1110 1120 1130 1140 KCDRMRSQKL RRRPDSCHAF HPEVRVEADR GWAGFSSPNP LCLGLCPCRQ EHIGMPMNTP 1150 VPVLLGGNIR VYAL
	Isoform 6 (Alpha2delta-4d) [UniParc]. Checksum: 145BCC542E24E4C4	FASTA	1,090	123,155
	10 20 30 40 50 60 MAVALGTRRR DRVKLWADTF GGDLYNTVTK YSGSLLLQKK YKDVESSLKI EEVDGLELVR 70 80 90 100 110 120 KFSEDMENML RRKVEAVQNL VEAAEEADLN HEFNESLVFD YYNSVLINER DEKGNFVELG 130 140 150 160 170 180 AEFLLESNAH FSNLPVNTSI SSVQLPTNVY NKDPDILNGV YMSEALNAVF VENFQRDPTL 190 200 210 220 230 240 TWQYFGSATG FFRIYPGIKW TPDENGVITF DCRNRGWYIQ AATSPKDIVI LVDVSGSMKG 250 260 270 280 290 300 LRMTIAKHTI TTILDTLGEN DFINIIAYND YVHYIEPCFK GILVQADRDN REHFKLLVEE 310 320 330 340 350 360 LMVKGVGVVD QALREAFQIL KQFQEAKQGS LCNQAIMLIS DGAVEDYEPV FEKYNWPDCK 370 380 390 400 410 420 VRVFTYLIGR EVSFADRMKW IACNNKGYYT QISTLADTQE NVMEYLHVLS RPMVINHDHD 430 440 450 460 470 480 IIWTEAYMDS KLLSSQAQSL TLLTTVAMPV FSKKNETRSH GILLGVVGSD VALRELMKLA 490 500 510 520 530 540 PRYKLGVHGY AFLNTNNGYI LSHPDLRPLY REGKKLKPKP NYNSVDLSEV EWEDQAESLR 550 560 570 580 590 600 TAMINRETGT LSMDVKVPMD KGKRVLFLTN DYFFTDISDT PFSLGVVLSR GHGEYILLGN 610 620 630 640 650 660 TSVEEGLHDL LHPDLALAGD WIYCITDIDP DHRKLSQLEA MIRFLTRKDP DLECDEELVR 670 680 690 700 710 720 EVLFDAVVTA PMEAYWTALA LNMSEESEHV VDMAFLGTRA GLLRSSLFVG SEKVSDRKFL 730 740 750 760 770 780 TPEDEASVFT LDRFPLWYRQ ASEHPAGSFV FNLRWAEGPE SAGEPMVVTA STAVAVTVDK 790 800 810 820 830 840 RTAIAAAAGV QMKLEFLQRK FWAATRQCST VDGPCTQSCE DSDLDCFVID NNGFILISKR 850 860 870 880 890 900 SRETGRFLGE VDGAVLTQLL SMGVFSQVTM YDYQAMCKPS SHHHSAAQPL VSPISAFLTA 910 920 930 940 950 960 TRWLLQELVL FLLEWSVWGS WYDRGAEAKS VFHHSHKHKK QDPLQPCDTE YPVFVYQPAI 970 980 990 1000 1010 1020 REANGIVECG PCQKVFVVQQ IPNSNLLLLV TDPTCDCSIF PPVLQEATEV KYNASVKCDR 1030 1040 1050 1060 1070 1080 MRSQKLRRRP DSCHAFHPEV RVEADRGWAG FSSPNPLCLG LCPCRQEHIG MPMNTPVPVL 1090 LGGNIRVYAL
	Isoform 7 [UniParc]. Checksum: 6189BCF6FD9B7870	FASTA	41	4,955
	10 20 30 40 MKLEFLQRKF WAATRQDLDC FVIDNNGFIL ISKRSRESDY V

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] 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.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00218065. IPI00480038. IPI00855801. IPI00855890. IPI00856031. IPI00856054.
RefSeq	NP_758952.4. NM_172364.4.
UniGene	Hs.13768.
3D structure databases
ProteinModelPortal	Q7Z3S7.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000372169.
Protein family/group databases
TCDB	8.A.18.4.1. Ca2+ channel auxiliary subunit alpha2delta types 1-4 (CCA-alpha2delta) family.
PTM databases
PhosphoSite	Q7Z3S7.
Polymorphism databases
DMDM	296434419.
Proteomic databases
PaxDb	Q7Z3S7.
PRIDE	Q7Z3S7.
Protocols and materials databases
DNASU	93589.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000382722; ENSP00000372169; ENSG00000151062. ENST00000545595; ENSP00000442329; ENSG00000151062. ENST00000585708; ENSP00000467697; ENSG00000151062. ENST00000586184; ENSP00000465060; ENSG00000151062. ENST00000588077; ENSP00000468530; ENSG00000151062.
GeneID	93589.
KEGG	hsa:93589.
UCSC	uc009zdt.1. human. uc021qsy.1. human.
Organism-specific databases
CTD	93589.
GeneCards	GC12M001901.
H-InvDB	HIX0010321. HIX0171624.
HGNC	HGNC:20202. CACNA2D4.
HPA	HPA031952.
MIM	608171. gene. 610478. phenotype.
neXtProt	NX_Q7Z3S7.
Orphanet	1872. Cone rod dystrophy.
PharmGKB	PA130546913.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG307080.
HOGENOM	HOG000010247.
HOVERGEN	HBG107124.
InParanoid	Q7Z3S7.
KO	K04861.
OMA	FTMDHFP.
OrthoDB	EOG4640B5.
Gene expression databases
ArrayExpress	Q7Z3S7.
Bgee	Q7Z3S7.
CleanEx	HS_CACNA2D4.
Genevestigator	Q7Z3S7.
Family and domain databases
Gene3D	3.40.50.410. 1 hit.
InterPro	IPR004010. Cache_domain. IPR013608. VWA_N. IPR002035. VWF_A. [Graphical view]
Pfam	PF02743. Cache_1. 1 hit. PF08399. VWA_N. 1 hit. [Graphical view]
SMART	SM00327. VWA. 1 hit. [Graphical view]
PROSITE	PS50234. VWFA. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChEMBL	CHEMBL5376.
GenomeRNAi	93589.
NextBio	78139.
SOURCE	Search...

Entry information

Entry name

CA2D4_HUMAN

Accession

Primary (citable) accession number: Q7Z3S7
Secondary accession number(s): Q7Z3S8, Q86XZ5, Q8IZS9

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 11, 2007
Last sequence update:	May 18, 2010
Last modified:	May 29, 2013
This is version 73 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.