UniProtKB - Q9NY47 (CA2D2_HUMAN)
Voltage-dependent calcium channel subunit alpha-2/delta-2
CACNA2D2
Functioni
Miscellaneous
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 297 | Divalent metal cationBy similarity | 1 | |
Metal bindingi | 299 | Divalent metal cationBy similarity | 1 | |
Metal bindingi | 301 | Divalent metal cationBy similarity | 1 |
GO - Molecular functioni
- metal ion binding Source: UniProtKB-KW
- voltage-gated calcium channel activity Source: GO_Central
GO - Biological processi
- cardiac conduction Source: Reactome
- muscle fiber development Source: Ensembl
- neuromuscular junction development Source: Ensembl
- positive regulation of organ growth Source: Ensembl
- regulation of insulin secretion Source: Reactome
- regulation of ion transmembrane transport Source: UniProtKB-KW
- regulation of multicellular organism growth Source: Ensembl
- rhythmic synaptic transmission Source: Ensembl
Keywordsi
Molecular function | Calcium channel, Ion channel, Voltage-gated channel |
Biological process | Calcium transport, Ion transport, Transport |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9NY47 |
Reactomei | R-HSA-112308, Presynaptic depolarization and calcium channel opening R-HSA-400042, Adrenaline,noradrenaline inhibits insulin secretion R-HSA-422356, Regulation of insulin secretion R-HSA-5576892, Phase 0 - rapid depolarisation R-HSA-5576893, Phase 2 - plateau phase |
Protein family/group databases
TCDBi | 8.A.18.2.1, the ca(2+) channel auxiliary subunit Alpha2Delta types 1-4 (cca-Alpha2Delta) family |
Names & Taxonomyi
Protein namesi | Recommended name: Voltage-dependent calcium channel subunit alpha-2/delta-2Alternative name(s): Voltage-gated calcium channel subunit alpha-2/delta-2 Cleaved into the following 2 chains: |
Gene namesi | Name:CACNA2D2 Synonyms:KIAA0558 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000007402.11 |
HGNCi | HGNC:1400, CACNA2D2 |
MIMi | 607082, gene |
neXtProti | NX_Q9NY47 |
Subcellular locationi
Other locations
- Membrane Curated; Single-pass type I membrane protein Curated
Note: Colocalizes with CACNA1A in lipid raft fractions.By similarity
Plasma Membrane
- plasma membrane Source: Reactome
- voltage-gated calcium channel complex Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 19 – 1113 | ExtracellularSequence analysisAdd BLAST | 1095 | |
Transmembranei | 1114 – 1134 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 1135 – 1150 | CytoplasmicSequence analysisAdd BLAST | 16 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Cerebellar atrophy with seizures and variable developmental delay (CASVDD)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083105 | 261 | P → L in CASVDD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1211603072EnsemblClinVar. | 1 | |
Natural variantiVAR_083106 | 1047 | L → P in CASVDD; impaired regulation of current density and inactivation kinetics of N- and L-type calcium channels. 1 PublicationCorresponds to variant dbSNP:rs587776948EnsemblClinVar. | 1 | |
Natural variantiVAR_083107 | 1053 | L → P in CASVDD; unknown pathological significance. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, EpilepsyOrganism-specific databases
DisGeNETi | 9254 |
MalaCardsi | CACNA2D2 |
MIMi | 618501, phenotype |
OpenTargetsi | ENSG00000007402 |
PharmGKBi | PA26012 |
Miscellaneous databases
Pharosi | Q9NY47, Tclin |
Chemistry databases
ChEMBLi | CHEMBL3896 |
DrugBanki | DB01244, Bepridil DB13746, Bioallethrin DB11148, Butamben DB00228, Enflurane DB00153, Ergocalciferol DB01023, Felodipine DB00996, Gabapentin DB08872, Gabapentin enacarbil DB00270, Isradipine DB01054, Nitrendipine DB00421, Spironolactone |
DrugCentrali | Q9NY47 |
Polymorphism and mutation databases
BioMutai | CACNA2D2 |
DMDMi | 387912827 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 18 | Sequence analysisAdd BLAST | 18 | |
ChainiPRO_0000304637 | 19 – 1150 | Voltage-dependent calcium channel subunit alpha-2/delta-2Add BLAST | 1132 | |
ChainiPRO_0000304638 | 19 – 1001 | Voltage-dependent calcium channel subunit alpha-2-2Sequence analysisAdd BLAST | 983 | |
ChainiPRO_0000304639 | 1002 – 1150 | Voltage-dependent calcium channel subunit delta-2Sequence analysisAdd BLAST | 149 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 386 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 418 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 443 ↔ 1098 | Interchain (between alpha-2-2 and delta-2 chains)By similarity | ||
Glycosylationi | 507 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 540 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 624 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 861 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
jPOSTi | Q9NY47 |
MassIVEi | Q9NY47 |
MaxQBi | Q9NY47 |
PaxDbi | Q9NY47 |
PeptideAtlasi | Q9NY47 |
PRIDEi | Q9NY47 |
ProteomicsDBi | 83169 [Q9NY47-1] 83170 [Q9NY47-2] 83171 [Q9NY47-3] 83172 [Q9NY47-4] 83173 [Q9NY47-5] |
PTM databases
CarbonylDBi | Q9NY47 |
GlyGeni | Q9NY47, 6 sites |
iPTMneti | Q9NY47 |
PhosphoSitePlusi | Q9NY47 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000007402, Expressed in visceral pleura and 201 other tissues |
ExpressionAtlasi | Q9NY47, baseline and differential |
Genevisiblei | Q9NY47, HS |
Organism-specific databases
HPAi | ENSG00000007402, Tissue enriched (lung) |
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 (By similarity).
By similarityProtein-protein interaction databases
BioGRIDi | 114678, 32 interactors |
IntActi | Q9NY47, 16 interactors |
STRINGi | 9606.ENSP00000418081 |
Chemistry databases
BindingDBi | Q9NY47 |
Miscellaneous databases
RNActi | Q9NY47, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 291 – 469 | VWFAPROSITE-ProRule annotationAdd BLAST | 179 | |
Domaini | 485 – 574 | CacheAdd BLAST | 90 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 297 – 301 | MIDAS-like motif | 5 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2353, Eukaryota |
GeneTreei | ENSGT00940000156238 |
HOGENOMi | CLU_004660_0_0_1 |
InParanoidi | Q9NY47 |
OrthoDBi | 510149at2759 |
TreeFami | TF315824 |
Family and domain databases
Gene3Di | 3.40.50.410, 1 hit |
InterProi | View protein in InterPro IPR013680, VDCC_a2/dsu IPR013608, VWA_N IPR002035, VWF_A IPR036465, vWFA_dom_sf |
Pfami | View protein in Pfam PF08473, VGCC_alpha2, 1 hit PF00092, VWA, 1 hit PF08399, VWA_N, 1 hit |
SMARTi | View protein in SMART SM00327, VWA, 1 hit |
SUPFAMi | SSF53300, SSF53300, 1 hit |
PROSITEi | View protein in PROSITE PS50234, VWFA, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAVPARTCGA SRPGPARTAR PWPGCGPHPG PGTRRPTSGP PRPLWLLLPL
60 70 80 90 100
LPLLAAPGAS AYSFPQQHTM QHWARRLEQE VDGVMRIFGG VQQLREIYKD
110 120 130 140 150
NRNLFEVQEN EPQKLVEKVA GDIESLLDRK VQALKRLADA AENFQKAHRW
160 170 180 190 200
QDNIKEEDIV YYDAKADAEL DDPESEDVER GSKASTLRLD FIEDPNFKNK
210 220 230 240 250
VNYSYAAVQI PTDIYKGSTV ILNELNWTEA LENVFMENRR QDPTLLWQVF
260 270 280 290 300
GSATGVTRYY PATPWRAPKK IDLYDVRRRP WYIQGASSPK DMVIIVDVSG
310 320 330 340 350
SVSGLTLKLM KTSVCEMLDT LSDDDYVNVA SFNEKAQPVS CFTHLVQANV
360 370 380 390 400
RNKKVFKEAV QGMVAKGTTG YKAGFEYAFD QLQNSNITRA NCNKMIMMFT
410 420 430 440 450
DGGEDRVQDV FEKYNWPNRT VRVFTFSVGQ HNYDVTPLQW MACANKGYYF
460 470 480 490 500
EIPSIGAIRI NTQEYLDVLG RPMVLAGKEA KQVQWTNVYE DALGLGLVVT
510 520 530 540 550
GTLPVFNLTQ DGPGEKKNQL ILGVMGIDVA LNDIKRLTPN YTLGANGYVF
560 570 580 590 600
AIDLNGYVLL HPNLKPQTTN FREPVTLDFL DAELEDENKE EIRRSMIDGN
610 620 630 640 650
KGHKQIRTLV KSLDERYIDE VTRNYTWVPI RSTNYSLGLV LPPYSTFYLQ
660 670 680 690 700
ANLSDQILQV KLPISKLKDF EFLLPSSFES EGHVFIAPRE YCKDLNASDN
710 720 730 740 750
NTEFLKNFIE LMEKVTPDSK QCNNFLLHNL ILDTGITQQL VERVWRDQDL
760 770 780 790 800
NTYSLLAVFA ATDGGITRVF PNKAAEDWTE NPEPFNASFY RRSLDNHGYV
810 820 830 840 850
FKPPHQDALL RPLELENDTV GILVSTAVEL SLGRRTLRPA VVGVKLDLEA
860 870 880 890 900
WAEKFKVLAS NRTHQDQPQK CGPNSHCEMD CEVNNEDLLC VLIDDGGFLV
910 920 930 940 950
LSNQNHQWDQ VGRFFSEVDA NLMLALYNNS FYTRKESYDY QAACAPQPPG
960 970 980 990 1000
NLGAAPRGVF VPTVADFLNL AWWTSAAAWS LFQQLLYGLI YHSWFQADPA
1010 1020 1030 1040 1050
EAEGSPETRE SSCVMKQTQY YFGSVNASYN AIIDCGNCSR LFHAQRLTNT
1060 1070 1080 1090 1100
NLLFVVAEKP LCSQCEAGRL LQKETHSDGP EQCELVQRPR YRRGPHICFD
1110 1120 1130 1140 1150
YNATEDTSDC GRGASFPPSL GVLVSLQLLL LLGLPPRPQP QVLVHASRRL
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JE82 | C9JE82_HUMAN | Voltage-dependent calcium channel s... | CACNA2D2 | 1,144 | Annotation score: | ||
C9JVC9 | C9JVC9_HUMAN | Voltage-dependent calcium channel s... | CACNA2D2 | 1,153 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 663 | P → R in CAB86193 (PubMed:10762351).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035048 | 138 | A → V. Corresponds to variant dbSNP:rs35497591Ensembl. | 1 | |
Natural variantiVAR_083105 | 261 | P → L in CASVDD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1211603072EnsemblClinVar. | 1 | |
Natural variantiVAR_057782 | 334 | E → K. Corresponds to variant dbSNP:rs743855Ensembl. | 1 | |
Natural variantiVAR_083106 | 1047 | L → P in CASVDD; impaired regulation of current density and inactivation kinetics of N- and L-type calcium channels. 1 PublicationCorresponds to variant dbSNP:rs587776948EnsemblClinVar. | 1 | |
Natural variantiVAR_083107 | 1053 | L → P in CASVDD; unknown pathological significance. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_028058 | 1 – 69 | Missing in isoform 4. 1 PublicationAdd BLAST | 69 | |
Alternative sequenceiVSP_028059 | 662 – 669 | LPISKLKD → Y in isoform 2, isoform 3 and isoform 4. 5 Publications | 8 | |
Alternative sequenceiVSP_028060 | 1076 – 1077 | HS → HCPA in isoform 3, isoform 4 and isoform 5. 4 Publications | 2 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF042792 mRNA Translation: AAB96913.1 AF042793 mRNA Translation: AAB96914.1 AF040709 mRNA Translation: AAC70914.1 AJ251367 mRNA Translation: CAB86192.1 AJ251368 mRNA Translation: CAB86193.1 AB011130 mRNA Translation: BAA25484.1 AL450422 Genomic DNA No translation available. Z75742 Genomic DNA No translation available. Z75743 Genomic DNA No translation available. Z84492 Genomic DNA No translation available. Z84494 Genomic DNA No translation available. Z84495 Genomic DNA No translation available. CH471055 Genomic DNA Translation: EAW65121.1 BC152438 mRNA Translation: AAI52439.1 |
CCDSi | CCDS33763.1 [Q9NY47-2] CCDS54588.1 [Q9NY47-1] CCDS63647.1 [Q9NY47-3] CCDS77748.1 [Q9NY47-4] |
RefSeqi | NP_001005505.1, NM_001005505.2 [Q9NY47-3] NP_001167522.1, NM_001174051.2 [Q9NY47-1] NP_001278030.1, NM_001291101.1 [Q9NY47-4] NP_006021.2, NM_006030.3 [Q9NY47-2] |
Genome annotation databases
Ensembli | ENST00000266039; ENSP00000266039; ENSG00000007402 [Q9NY47-3] ENST00000360963; ENSP00000354228; ENSG00000007402 [Q9NY47-4] ENST00000424201; ENSP00000390329; ENSG00000007402 [Q9NY47-2] ENST00000479441; ENSP00000418081; ENSG00000007402 [Q9NY47-1] |
GeneIDi | 9254 |
KEGGi | hsa:9254 |
UCSCi | uc003dap.4, human [Q9NY47-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF042792 mRNA Translation: AAB96913.1 AF042793 mRNA Translation: AAB96914.1 AF040709 mRNA Translation: AAC70914.1 AJ251367 mRNA Translation: CAB86192.1 AJ251368 mRNA Translation: CAB86193.1 AB011130 mRNA Translation: BAA25484.1 AL450422 Genomic DNA No translation available. Z75742 Genomic DNA No translation available. Z75743 Genomic DNA No translation available. Z84492 Genomic DNA No translation available. Z84494 Genomic DNA No translation available. Z84495 Genomic DNA No translation available. CH471055 Genomic DNA Translation: EAW65121.1 BC152438 mRNA Translation: AAI52439.1 |
CCDSi | CCDS33763.1 [Q9NY47-2] CCDS54588.1 [Q9NY47-1] CCDS63647.1 [Q9NY47-3] CCDS77748.1 [Q9NY47-4] |
RefSeqi | NP_001005505.1, NM_001005505.2 [Q9NY47-3] NP_001167522.1, NM_001174051.2 [Q9NY47-1] NP_001278030.1, NM_001291101.1 [Q9NY47-4] NP_006021.2, NM_006030.3 [Q9NY47-2] |
3D structure databases
SMRi | Q9NY47 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 114678, 32 interactors |
IntActi | Q9NY47, 16 interactors |
STRINGi | 9606.ENSP00000418081 |
Chemistry databases
BindingDBi | Q9NY47 |
ChEMBLi | CHEMBL3896 |
DrugBanki | DB01244, Bepridil DB13746, Bioallethrin DB11148, Butamben DB00228, Enflurane DB00153, Ergocalciferol DB01023, Felodipine DB00996, Gabapentin DB08872, Gabapentin enacarbil DB00270, Isradipine DB01054, Nitrendipine DB00421, Spironolactone |
DrugCentrali | Q9NY47 |
Protein family/group databases
TCDBi | 8.A.18.2.1, the ca(2+) channel auxiliary subunit Alpha2Delta types 1-4 (cca-Alpha2Delta) family |
PTM databases
CarbonylDBi | Q9NY47 |
GlyGeni | Q9NY47, 6 sites |
iPTMneti | Q9NY47 |
PhosphoSitePlusi | Q9NY47 |
Polymorphism and mutation databases
BioMutai | CACNA2D2 |
DMDMi | 387912827 |
Proteomic databases
jPOSTi | Q9NY47 |
MassIVEi | Q9NY47 |
MaxQBi | Q9NY47 |
PaxDbi | Q9NY47 |
PeptideAtlasi | Q9NY47 |
PRIDEi | Q9NY47 |
ProteomicsDBi | 83169 [Q9NY47-1] 83170 [Q9NY47-2] 83171 [Q9NY47-3] 83172 [Q9NY47-4] 83173 [Q9NY47-5] |
Protocols and materials databases
Antibodypediai | 30959, 149 antibodies |
Genome annotation databases
Ensembli | ENST00000266039; ENSP00000266039; ENSG00000007402 [Q9NY47-3] ENST00000360963; ENSP00000354228; ENSG00000007402 [Q9NY47-4] ENST00000424201; ENSP00000390329; ENSG00000007402 [Q9NY47-2] ENST00000479441; ENSP00000418081; ENSG00000007402 [Q9NY47-1] |
GeneIDi | 9254 |
KEGGi | hsa:9254 |
UCSCi | uc003dap.4, human [Q9NY47-1] |
Organism-specific databases
CTDi | 9254 |
DisGeNETi | 9254 |
EuPathDBi | HostDB:ENSG00000007402.11 |
GeneCardsi | CACNA2D2 |
HGNCi | HGNC:1400, CACNA2D2 |
HPAi | ENSG00000007402, Tissue enriched (lung) |
MalaCardsi | CACNA2D2 |
MIMi | 607082, gene 618501, phenotype |
neXtProti | NX_Q9NY47 |
OpenTargetsi | ENSG00000007402 |
PharmGKBi | PA26012 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2353, Eukaryota |
GeneTreei | ENSGT00940000156238 |
HOGENOMi | CLU_004660_0_0_1 |
InParanoidi | Q9NY47 |
OrthoDBi | 510149at2759 |
TreeFami | TF315824 |
Enzyme and pathway databases
PathwayCommonsi | Q9NY47 |
Reactomei | R-HSA-112308, Presynaptic depolarization and calcium channel opening R-HSA-400042, Adrenaline,noradrenaline inhibits insulin secretion R-HSA-422356, Regulation of insulin secretion R-HSA-5576892, Phase 0 - rapid depolarisation R-HSA-5576893, Phase 2 - plateau phase |
Miscellaneous databases
BioGRID-ORCSi | 9254, 4 hits in 843 CRISPR screens |
ChiTaRSi | CACNA2D2, human |
GeneWikii | CACNA2D2 |
GenomeRNAii | 9254 |
Pharosi | Q9NY47, Tclin |
PROi | PR:Q9NY47 |
RNActi | Q9NY47, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000007402, Expressed in visceral pleura and 201 other tissues |
ExpressionAtlasi | Q9NY47, baseline and differential |
Genevisiblei | Q9NY47, HS |
Family and domain databases
Gene3Di | 3.40.50.410, 1 hit |
InterProi | View protein in InterPro IPR013680, VDCC_a2/dsu IPR013608, VWA_N IPR002035, VWF_A IPR036465, vWFA_dom_sf |
Pfami | View protein in Pfam PF08473, VGCC_alpha2, 1 hit PF00092, VWA, 1 hit PF08399, VWA_N, 1 hit |
SMARTi | View protein in SMART SM00327, VWA, 1 hit |
SUPFAMi | SSF53300, SSF53300, 1 hit |
PROSITEi | View protein in PROSITE PS50234, VWFA, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CA2D2_HUMAN | |
Accessioni | Q9NY47Primary (citable) accession number: Q9NY47 Secondary accession number(s): A7MD15 Q9Y268 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 11, 2007 |
Last sequence update: | May 16, 2012 | |
Last modified: | December 2, 2020 | |
This is version 143 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations