UniProtKB - Q13467 (FZD5_HUMAN)
Protein
Frizzled-5
Gene
FZD5
Organism
Homo sapiens (Human)
Status
Functioni
Receptor for Wnt proteins (PubMed:9054360, PubMed:10097073, PubMed:20530549). Can activate WNT2, WNT10B, WNT5A, but not WNT2B or WNT4 (in vitro); the in vivo situation may be different since not all of these are known to be coexpressed (By similarity). In neurons, activation of WNT7A promotes formation of synapses (PubMed:20530549). Functions in the canonical Wnt/beta-catenin signaling pathway. The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (By similarity). A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable). Plays a role in yolk sac angiogenesis and in placental vascularization (By similarity).By similarityCurated3 Publications
GO - Molecular functioni
- amyloid-beta binding Source: ARUK-UCL
- G protein-coupled receptor activity Source: UniProtKB-KW
- lipid binding Source: UniProtKB-KW
- protein-containing complex binding Source: ARUK-UCL
- protein kinase binding Source: BHF-UCL
- ubiquitin protein ligase binding Source: UniProtKB
- Wnt-activated receptor activity Source: FlyBase
- Wnt-protein binding Source: UniProtKB
GO - Biological processi
- angiogenesis Source: Ensembl
- anterior/posterior axis specification, embryo Source: BHF-UCL
- apoptotic process involved in morphogenesis Source: Ensembl
- beta-catenin destruction complex disassembly Source: Reactome
- branching involved in labyrinthine layer morphogenesis Source: Ensembl
- canonical Wnt signaling pathway Source: BHF-UCL
- cell maturation Source: Ensembl
- cellular response to molecule of bacterial origin Source: BHF-UCL
- chorionic trophoblast cell differentiation Source: Ensembl
- embryonic axis specification Source: BHF-UCL
- embryonic camera-type eye morphogenesis Source: Ensembl
- labyrinthine layer blood vessel development Source: Ensembl
- negative regulation of cell population proliferation Source: Ensembl
- neuron differentiation Source: UniProtKB
- positive regulation of interferon-gamma production Source: BHF-UCL
- positive regulation of interleukin-1 beta production Source: ARUK-UCL
- positive regulation of JUN kinase activity Source: Ensembl
- positive regulation of protein targeting to mitochondrion Source: ParkinsonsUK-UCL
- positive regulation of T cell cytokine production Source: CACAO
- positive regulation of transcription by RNA polymerase II Source: BHF-UCL
- positive regulation of tumor necrosis factor secretion Source: ARUK-UCL
- post-embryonic camera-type eye development Source: Ensembl
- regulation of autophagy of mitochondrion Source: ParkinsonsUK-UCL
- regulation of bicellular tight junction assembly Source: Ensembl
- regulation of chorionic trophoblast cell proliferation Source: Ensembl
- Spemann organizer formation Source: BHF-UCL
- synapse assembly Source: ParkinsonsUK-UCL
- syncytiotrophoblast cell differentiation involved in labyrinthine layer development Source: Ensembl
- T cell differentiation in thymus Source: Ensembl
- Wnt signaling pathway, calcium modulating pathway Source: Reactome
- Wnt signaling pathway, planar cell polarity pathway Source: Reactome
Keywordsi
Molecular function | Developmental protein, G-protein coupled receptor, Receptor, Transducer |
Biological process | Wnt signaling pathway |
Ligand | Lipid-binding |
Enzyme and pathway databases
PathwayCommonsi | Q13467 |
Reactomei | R-HSA-373080, Class B/2 (Secretin family receptors) R-HSA-4086398, Ca2+ pathway R-HSA-4608870, Asymmetric localization of PCP proteins R-HSA-4641262, Disassembly of the destruction complex and recruitment of AXIN to the membrane R-HSA-4641263, Regulation of FZD by ubiquitination R-HSA-5140745, WNT5A-dependent internalization of FZD2, FZD5 and ROR2 R-HSA-5340588, RNF mutants show enhanced WNT signaling and proliferation |
SignaLinki | Q13467 |
SIGNORi | Q13467 |
Names & Taxonomyi
Protein namesi | Recommended name: Frizzled-5Short name: Fz-5 Short name: hFz5 Alternative name(s): FzE5 |
Gene namesi | Name:FZD5 Synonyms:C2orf31 |
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:ENSG00000163251.3 |
HGNCi | HGNC:4043, FZD5 |
MIMi | 601723, gene |
neXtProti | NX_Q13467 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; Multi-pass membrane protein By similarity
Golgi apparatus
- Golgi apparatus membrane By similarity; Multi-pass membrane protein By similarity
Other locations
- synapse By similarity
- Perikaryon By similarity
- dendrite By similarity
- axon By similarity
Note: Localized at the plasma membrane and also found at the Golgi.By similarity
Endosome
- early endosome membrane Source: Reactome
Golgi apparatus
- Golgi membrane Source: UniProtKB-SubCell
Plasma Membrane
- integral component of plasma membrane Source: FlyBase
- plasma membrane Source: GO_Central
Other locations
- axon Source: UniProtKB-SubCell
- bicellular tight junction Source: Ensembl
- cell surface Source: BHF-UCL
- clathrin-coated endocytic vesicle membrane Source: Reactome
- dendrite Source: UniProtKB-SubCell
- integral component of membrane Source: GO_Central
- perikaryon Source: UniProtKB-SubCell
- perinuclear region of cytoplasm Source: Ensembl
- synapse Source: UniProtKB-SubCell
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 27 – 238 | ExtracellularSequence analysisAdd BLAST | 212 | |
Transmembranei | 239 – 259 | Helical; Name=1Sequence analysisAdd BLAST | 21 | |
Topological domaini | 260 – 270 | CytoplasmicSequence analysisAdd BLAST | 11 | |
Transmembranei | 271 – 291 | Helical; Name=2Sequence analysisAdd BLAST | 21 | |
Topological domaini | 292 – 315 | ExtracellularSequence analysisAdd BLAST | 24 | |
Transmembranei | 316 – 336 | Helical; Name=3Sequence analysisAdd BLAST | 21 | |
Topological domaini | 337 – 358 | CytoplasmicSequence analysisAdd BLAST | 22 | |
Transmembranei | 359 – 379 | Helical; Name=4Sequence analysisAdd BLAST | 21 | |
Topological domaini | 380 – 402 | ExtracellularSequence analysisAdd BLAST | 23 | |
Transmembranei | 403 – 423 | Helical; Name=5Sequence analysisAdd BLAST | 21 | |
Topological domaini | 424 – 449 | CytoplasmicSequence analysisAdd BLAST | 26 | |
Transmembranei | 450 – 470 | Helical; Name=6Sequence analysisAdd BLAST | 21 | |
Topological domaini | 471 – 500 | ExtracellularSequence analysisAdd BLAST | 30 | |
Transmembranei | 501 – 521 | Helical; Name=7Sequence analysisAdd BLAST | 21 | |
Topological domaini | 522 – 585 | CytoplasmicSequence analysisAdd BLAST | 64 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Cell projection, Golgi apparatus, Membrane, SynapsePathology & Biotechi
Organism-specific databases
DisGeNETi | 7855 |
MalaCardsi | FZD5 |
OpenTargetsi | ENSG00000163251 |
Orphaneti | 98942, Coloboma of choroid and retina 98943, Coloboma of eye lens 98946, Coloboma of eyelid 98944, Coloboma of iris 98945, Coloboma of macula 98947, Coloboma of optic disc |
PharmGKBi | PA28460 |
Miscellaneous databases
Pharosi | Q13467, Tbio |
Chemistry databases
ChEMBLi | CHEMBL3559687 |
GuidetoPHARMACOLOGYi | 233 |
Polymorphism and mutation databases
BioMutai | FZD5 |
DMDMi | 116242481 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 26 | Sequence analysisAdd BLAST | 26 | |
ChainiPRO_0000012990 | 27 – 585 | Frizzled-5Add BLAST | 559 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 33 ↔ 94 | PROSITE-ProRule annotationCombined sources1 Publication | ||
Disulfide bondi | 41 ↔ 87 | PROSITE-ProRule annotationCombined sources1 Publication | ||
Glycosylationi | 47 | N-linked (GlcNAc...) asparagineCombined sources1 Publication | 1 | |
Disulfide bondi | 78 ↔ 116 | PROSITE-ProRule annotationCombined sources1 Publication | ||
Disulfide bondi | 105 ↔ 147 | PROSITE-ProRule annotationCombined sources1 Publication | ||
Disulfide bondi | 109 ↔ 133 | PROSITE-ProRule annotationCombined sources1 Publication | ||
Glycosylationi | 151 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Ubiquitinated by RNF43 and ZNRF3, leading to its degradation by the proteasome.2 Publications
Keywords - PTMi
Disulfide bond, Glycoprotein, Ubl conjugationProteomic databases
EPDi | Q13467 |
jPOSTi | Q13467 |
MassIVEi | Q13467 |
MaxQBi | Q13467 |
PaxDbi | Q13467 |
PeptideAtlasi | Q13467 |
PRIDEi | Q13467 |
ProteomicsDBi | 59463 |
TopDownProteomicsi | Q13467 |
PTM databases
GlyGeni | Q13467, 3 sites, 1 O-linked glycan (1 site) |
iPTMneti | Q13467 |
PhosphoSitePlusi | Q13467 |
Expressioni
Gene expression databases
Bgeei | ENSG00000163251, Expressed in colonic mucosa and 205 other tissues |
Genevisiblei | Q13467, HS |
Organism-specific databases
HPAi | ENSG00000163251, Tissue enhanced (intestine, liver) |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsQ13467
With | #Exp. | IntAct |
---|---|---|
SCYL2 [Q6P3W7] | 4 | EBI-3913027,EBI-1046810 |
SLC35B1 [P78383] | 3 | EBI-3913027,EBI-12147661 |
GO - Molecular functioni
- protein kinase binding Source: BHF-UCL
- ubiquitin protein ligase binding Source: UniProtKB
- Wnt-protein binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 113609, 15 interactors |
CORUMi | Q13467 |
IntActi | Q13467, 14 interactors |
MINTi | Q13467 |
STRINGi | 9606.ENSP00000354607 |
Miscellaneous databases
RNActi | Q13467, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q13467 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 28 – 150 | FZPROSITE-ProRule annotationAdd BLAST | 123 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 525 – 530 | Lys-Thr-X-X-X-Trp motif, mediates interaction with the PDZ domain of Dvl family membersBy similarity | 6 | |
Motifi | 583 – 585 | PDZ-binding | 3 |
Domaini
The PDZ-binding motif mediates interaction with GOPC.By similarity
Lys-Thr-X-X-X-Trp motif interacts with the PDZ domain of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway.By similarity
The FZ domain is involved in binding with Wnt ligands.By similarity
Sequence similaritiesi
Belongs to the G-protein coupled receptor Fz/Smo family.Curated
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3577, Eukaryota |
GeneTreei | ENSGT00940000162639 |
HOGENOMi | CLU_007873_2_0_1 |
InParanoidi | Q13467 |
OMAi | CRADGPQ |
OrthoDBi | 509772at2759 |
PhylomeDBi | Q13467 |
TreeFami | TF317907 |
Family and domain databases
CDDi | cd07460, CRD_FZ5, 1 hit |
Gene3Di | 1.10.2000.10, 1 hit |
InterProi | View protein in InterPro IPR015526, Frizzled/SFRP IPR000539, Frizzled/Smoothened_TM IPR020067, Frizzled_dom IPR036790, Frizzled_dom_sf IPR037441, FZ5_CRD IPR017981, GPCR_2-like |
PANTHERi | PTHR11309, PTHR11309, 1 hit |
Pfami | View protein in Pfam PF01534, Frizzled, 1 hit PF01392, Fz, 1 hit |
PRINTSi | PR00489, FRIZZLED |
SMARTi | View protein in SMART SM00063, FRI, 1 hit SM01330, Frizzled, 1 hit |
SUPFAMi | SSF63501, SSF63501, 1 hit |
PROSITEi | View protein in PROSITE PS50038, FZ, 1 hit PS50261, G_PROTEIN_RECEP_F2_4, 1 hit |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
Q13467-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MARPDPSAPP SLLLLLLAQL VGRAAAASKA PVCQEITVPM CRGIGYNLTH
60 70 80 90 100
MPNQFNHDTQ DEAGLEVHQF WPLVEIQCSP DLRFFLCSMY TPICLPDYHK
110 120 130 140 150
PLPPCRSVCE RAKAGCSPLM RQYGFAWPER MSCDRLPVLG RDAEVLCMDY
160 170 180 190 200
NRSEATTAPP RPFPAKPTLP GPPGAPASGG ECPAGGPFVC KCREPFVPIL
210 220 230 240 250
KESHPLYNKV RTGQVPNCAV PCYQPSFSAD ERTFATFWIG LWSVLCFIST
260 270 280 290 300
STTVATFLID MERFRYPERP IIFLSACYLC VSLGFLVRLV VGHASVACSR
310 320 330 340 350
EHNHIHYETT GPALCTIVFL LVYFFGMASS IWWVILSLTW FLAAGMKWGN
360 370 380 390 400
EAIAGYAQYF HLAAWLIPSV KSITALALSS VDGDPVAGIC YVGNQNLNSL
410 420 430 440 450
RGFVLGPLVL YLLVGTLFLL AGFVSLFRIR SVIKQGGTKT DKLEKLMIRI
460 470 480 490 500
GIFTLLYTVP ASIVVACYLY EQHYRESWEA ALTCACPGHD TGQPRAKPEY
510 520 530 540 550
WVLMLKYFMC LVVGITSGVW IWSGKTVESW RRFTSRCCCR PRRGHKSGGA
560 570 580
MAAGDYPEAS AALTGRTGPP GPAATYHKQV SLSHV
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 88 | S → T in AAC50385 (PubMed:8626800).Curated | 1 | |
Sequence conflicti | 262 – 263 | ER → DT in AAC50385 (PubMed:8626800).Curated | 2 | |
Sequence conflicti | 345 | G → A in AAC50385 (PubMed:8626800).Curated | 1 | |
Sequence conflicti | 357 | A → G in AAC50385 (PubMed:8626800).Curated | 1 | |
Sequence conflicti | 384 | D → G in BAF83075 (PubMed:15815621).Curated | 1 | |
Sequence conflicti | 402 | G → R in AAC50385 (PubMed:8626800).Curated | 1 | |
Sequence conflicti | 504 | M → V in BAG37738 (PubMed:15815621).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_049291 | 216 | P → L. Corresponds to variant dbSNP:rs35994626Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U43318 mRNA Translation: AAC50385.1 AB043702 mRNA Translation: BAB60959.1 AK290386 mRNA Translation: BAF83075.1 AK315338 mRNA Translation: BAG37738.1 AC096772 Genomic DNA Translation: AAY24058.1 |
CCDSi | CCDS33366.1 |
RefSeqi | NP_003459.2, NM_003468.3 |
Genome annotation databases
Ensembli | ENST00000295417; ENSP00000354607; ENSG00000163251 |
GeneIDi | 7855 |
KEGGi | hsa:7855 |
UCSCi | uc002vcj.4, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U43318 mRNA Translation: AAC50385.1 AB043702 mRNA Translation: BAB60959.1 AK290386 mRNA Translation: BAF83075.1 AK315338 mRNA Translation: BAG37738.1 AC096772 Genomic DNA Translation: AAY24058.1 |
CCDSi | CCDS33366.1 |
RefSeqi | NP_003459.2, NM_003468.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5URY | X-ray | 2.10 | A/B | 28-155 | [»] | |
5URZ | X-ray | 2.20 | A/B | 28-155 | [»] | |
6O39 | X-ray | 1.80 | C | 28-150 | [»] | |
6WW2 | electron microscopy | 3.70 | R | 27-428 | [»] | |
R | 441-546 | [»] | ||||
SMRi | Q13467 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 113609, 15 interactors |
CORUMi | Q13467 |
IntActi | Q13467, 14 interactors |
MINTi | Q13467 |
STRINGi | 9606.ENSP00000354607 |
Chemistry databases
ChEMBLi | CHEMBL3559687 |
GuidetoPHARMACOLOGYi | 233 |
Protein family/group databases
GPCRDBi | Search... |
PTM databases
GlyGeni | Q13467, 3 sites, 1 O-linked glycan (1 site) |
iPTMneti | Q13467 |
PhosphoSitePlusi | Q13467 |
Polymorphism and mutation databases
BioMutai | FZD5 |
DMDMi | 116242481 |
Proteomic databases
EPDi | Q13467 |
jPOSTi | Q13467 |
MassIVEi | Q13467 |
MaxQBi | Q13467 |
PaxDbi | Q13467 |
PeptideAtlasi | Q13467 |
PRIDEi | Q13467 |
ProteomicsDBi | 59463 |
TopDownProteomicsi | Q13467 |
Protocols and materials databases
ABCDi | Q13467, 61 sequenced antibodies |
Antibodypediai | 19996, 414 antibodies |
DNASUi | 7855 |
Genome annotation databases
Ensembli | ENST00000295417; ENSP00000354607; ENSG00000163251 |
GeneIDi | 7855 |
KEGGi | hsa:7855 |
UCSCi | uc002vcj.4, human |
Organism-specific databases
CTDi | 7855 |
DisGeNETi | 7855 |
EuPathDBi | HostDB:ENSG00000163251.3 |
GeneCardsi | FZD5 |
HGNCi | HGNC:4043, FZD5 |
HPAi | ENSG00000163251, Tissue enhanced (intestine, liver) |
MalaCardsi | FZD5 |
MIMi | 601723, gene |
neXtProti | NX_Q13467 |
OpenTargetsi | ENSG00000163251 |
Orphaneti | 98942, Coloboma of choroid and retina 98943, Coloboma of eye lens 98946, Coloboma of eyelid 98944, Coloboma of iris 98945, Coloboma of macula 98947, Coloboma of optic disc |
PharmGKBi | PA28460 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3577, Eukaryota |
GeneTreei | ENSGT00940000162639 |
HOGENOMi | CLU_007873_2_0_1 |
InParanoidi | Q13467 |
OMAi | CRADGPQ |
OrthoDBi | 509772at2759 |
PhylomeDBi | Q13467 |
TreeFami | TF317907 |
Enzyme and pathway databases
PathwayCommonsi | Q13467 |
Reactomei | R-HSA-373080, Class B/2 (Secretin family receptors) R-HSA-4086398, Ca2+ pathway R-HSA-4608870, Asymmetric localization of PCP proteins R-HSA-4641262, Disassembly of the destruction complex and recruitment of AXIN to the membrane R-HSA-4641263, Regulation of FZD by ubiquitination R-HSA-5140745, WNT5A-dependent internalization of FZD2, FZD5 and ROR2 R-HSA-5340588, RNF mutants show enhanced WNT signaling and proliferation |
SignaLinki | Q13467 |
SIGNORi | Q13467 |
Miscellaneous databases
BioGRID-ORCSi | 7855, 17 hits in 843 CRISPR screens |
ChiTaRSi | FZD5, human |
GeneWikii | FZD5 |
GenomeRNAii | 7855 |
Pharosi | Q13467, Tbio |
PROi | PR:Q13467 |
RNActi | Q13467, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163251, Expressed in colonic mucosa and 205 other tissues |
Genevisiblei | Q13467, HS |
Family and domain databases
CDDi | cd07460, CRD_FZ5, 1 hit |
Gene3Di | 1.10.2000.10, 1 hit |
InterProi | View protein in InterPro IPR015526, Frizzled/SFRP IPR000539, Frizzled/Smoothened_TM IPR020067, Frizzled_dom IPR036790, Frizzled_dom_sf IPR037441, FZ5_CRD IPR017981, GPCR_2-like |
PANTHERi | PTHR11309, PTHR11309, 1 hit |
Pfami | View protein in Pfam PF01534, Frizzled, 1 hit PF01392, Fz, 1 hit |
PRINTSi | PR00489, FRIZZLED |
SMARTi | View protein in SMART SM00063, FRI, 1 hit SM01330, Frizzled, 1 hit |
SUPFAMi | SSF63501, SSF63501, 1 hit |
PROSITEi | View protein in PROSITE PS50038, FZ, 1 hit PS50261, G_PROTEIN_RECEP_F2_4, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | FZD5_HUMAN | |
Accessioni | Q13467Primary (citable) accession number: Q13467 Secondary accession number(s): A8K2X1, B2RCZ1, Q53R22 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 5, 2001 |
Last sequence update: | October 17, 2006 | |
Last modified: | December 2, 2020 | |
This is version 196 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
3D-structure, Reference proteomeDocuments
- 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 - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - 7-transmembrane G-linked receptors
List of 7-transmembrane G-linked receptor entries