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Protein

Plakophilin-2

Gene

PKP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May play a role in junctional plaques.1 Publication

GO - Molecular functioni

  • alpha-catenin binding Source: BHF-UCL
  • cadherin binding Source: BHF-UCL
  • cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication Source: BHF-UCL
  • intermediate filament binding Source: BHF-UCL
  • ion channel binding Source: BHF-UCL
  • protein-containing complex scaffold activity Source: BHF-UCL
  • protein kinase C binding Source: BHF-UCL
  • sodium channel regulator activity Source: BHF-UCL

GO - Biological processi

Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

ReactomeiR-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope
SignaLinkiQ99959

Names & Taxonomyi

Protein namesi
Recommended name:
Plakophilin-2
Gene namesi
Name:PKP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000057294.13
HGNCiHGNC:9024 PKP2
MIMi602861 gene
neXtProtiNX_Q99959

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Nucleus

Pathology & Biotechi

Involvement in diseasei

Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
See also OMIM:609040
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08039759Q → L in ARVD9; unknown pathological significance; decreased interaction with DSP. 1 PublicationCorresponds to variant dbSNP:rs730880179EnsemblClinVar.1
Natural variantiVAR_06570362Q → K in ARVD9; unknown pathological significance; decreased protein stability; decreased interaction with DSP; does not affect subcellular location to the desmosomes. 2 PublicationsCorresponds to variant dbSNP:rs199601548EnsemblClinVar.1
Natural variantiVAR_08039879 – 881Missing in ARVD9. 1 PublicationAdd BLAST803
Natural variantiVAR_065705137E → K in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs781739949EnsemblClinVar.1
Natural variantiVAR_065706169S → G in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs139139859EnsemblClinVar.1
Natural variantiVAR_065711424F → S in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs397516990EnsemblClinVar.1
Natural variantiVAR_065712489G → R in ARVD9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111450489EnsemblClinVar.1
Natural variantiVAR_021149615S → F in ARVD9; impairs protein stability. 2 PublicationsCorresponds to variant dbSNP:rs1060501186Ensembl.1
Natural variantiVAR_065716631Y → C in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs1060501183Ensembl.1
Natural variantiVAR_021150654K → Q in ARVD9; impairs protein stability. 2 PublicationsCorresponds to variant dbSNP:rs1319690519Ensembl.1
Natural variantiVAR_065717673G → V in ARVD9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1426480515Ensembl.1
Natural variantiVAR_065718787L → F in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs1462688980Ensembl.1
Natural variantiVAR_021151796C → R in ARVD9; impairs protein stability. 2 PublicationsCorresponds to variant dbSNP:rs794729098EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi5318
GeneReviewsiPKP2
MalaCardsiPKP2
MIMi609040 phenotype
OpenTargetsiENSG00000057294
Orphaneti130 Brugada syndrome
293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
54260 Left ventricular noncompaction
PharmGKBiPA33357

Polymorphism and mutation databases

BioMutaiPKP2
DMDMi296452867

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000642861 – 881Plakophilin-2Add BLAST881

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei44PhosphoserineCombined sources1
Modified residuei46Omega-N-methylarginineCombined sources1
Modified residuei132PhosphoserineCombined sources1
Modified residuei135PhosphoserineCombined sources1
Modified residuei151PhosphoserineCombined sources1
Modified residuei154PhosphoserineCombined sources1
Modified residuei155PhosphoserineCombined sources1
Modified residuei169PhosphoserineCombined sources1
Modified residuei172PhosphoserineCombined sources1
Modified residuei177PhosphothreonineCombined sources1
Modified residuei183PhosphoserineCombined sources1
Modified residuei197PhosphoserineCombined sources1
Modified residuei251PhosphoserineCombined sources1
Modified residuei294PhosphoserineCombined sources1
Modified residuei329PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ99959
MaxQBiQ99959
PaxDbiQ99959
PeptideAtlasiQ99959
PRIDEiQ99959
ProteomicsDBi78543
78544 [Q99959-2]

PTM databases

iPTMnetiQ99959
PhosphoSitePlusiQ99959
SwissPalmiQ99959

Expressioni

Tissue specificityi

Detected in heart right ventricle (at protein level). Widely expressed. Found at desmosomal plaques in simple and stratified epithelia and in non-epithelial tissues such as myocardium and lymph node follicles. In most stratified epithelia found in the desmosomes of the basal cell layer and seems to be absent from suprabasal strata.2 Publications

Gene expression databases

BgeeiENSG00000057294 Expressed in 177 organ(s), highest expression level in heart
CleanExiHS_PKP2
ExpressionAtlasiQ99959 baseline and differential
GenevisibleiQ99959 HS

Organism-specific databases

HPAiCAB037336
HPA014314
HPA056908

Interactioni

Subunit structurei

Interacts with DSC2. Interacts with JUP and desmoplakin/DSP.2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111335, 61 interactors
IntActiQ99959, 49 interactors
MINTiQ99959
STRINGi9606.ENSP00000070846

Structurei

Secondary structure

1881
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ99959
SMRiQ99959
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati341 – 383ARM 1Add BLAST43
Repeati385 – 424ARM 2Add BLAST40
Repeati427 – 467ARM 3Add BLAST41
Repeati571 – 616ARM 4Add BLAST46
Repeati671 – 711ARM 5Add BLAST41
Repeati719 – 758ARM 6Add BLAST40
Repeati763 – 804ARM 7Add BLAST42
Repeati807 – 849ARM 8Add BLAST43

Sequence similaritiesi

Belongs to the beta-catenin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1048 Eukaryota
ENOG410Y21Q LUCA
GeneTreeiENSGT00760000119167
HOGENOMiHOG000092312
HOVERGENiHBG009157
InParanoidiQ99959
KOiK12642
OMAiELHNAYK
OrthoDBiEOG091G01YT
PhylomeDBiQ99959
TreeFamiTF321877

Family and domain databases

InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR000225 Armadillo
IPR028435 Plakophilin/d_Catenin
PANTHERiPTHR10372 PTHR10372, 1 hit
PfamiView protein in Pfam
PF00514 Arm, 1 hit
SMARTiView protein in SMART
SM00185 ARM, 5 hits
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS50176 ARM_REPEAT, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 2 (identifier: Q99959-1) [UniParc]FASTAAdd to basket
Also known as: B

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
        10         20         30         40         50
MAAPGAPAEY GYIRTVLGQQ ILGQLDSSSL ALPSEAKLKL AGSSGRGGQT
60 70 80 90 100
VKSLRIQEQV QQTLARKGRS SVGNGNLHRT SSVPEYVYNL HLVENDFVGG
110 120 130 140 150
RSPVPKTYDM LKAGTTATYE GRWGRGTAQY SSQKSVEERS LRHPLRRLEI
160 170 180 190 200
SPDSSPERAH YTHSDYQYSQ RSQAGHTLHH QESRRAALLV PPRYARSEIV
210 220 230 240 250
GVSRAGTTSR QRHFDTYHRQ YQHGSVSDTV FDSIPANPAL LTYPRPGTSR
260 270 280 290 300
SMGNLLEKEN YLTAGLTVGQ VRPLVPLQPV TQNRASRSSW HQSSFHSTRT
310 320 330 340 350
LREAGPSVAV DSSGRRAHLT VGQAAAGGSG NLLTERSTFT DSQLGNADME
360 370 380 390 400
MTLERAVSML EADHMLPSRI SAAATFIQHE CFQKSEARKR VNQLRGILKL
410 420 430 440 450
LQLLKVQNED VQRAVCGALR NLVFEDNDNK LEVAELNGVP RLLQVLKQTR
460 470 480 490 500
DLETKKQITD HTVNLRSRNG WPGAVAHACN PSTLGGQGGR ITRSGVRDQP
510 520 530 540 550
DQHGLLWNLS SNDKLKNLMI TEALLTLTEN IIIPFSGWPE GDYPKANGLL
560 570 580 590 600
DFDIFYNVTG CLRNMSSAGA DGRKAMRRCD GLIDSLVHYV RGTIADYQPD
610 620 630 640 650
DKATENCVCI LHNLSYQLEA ELPEKYSQNI YIQNRNIQTD NNKSIGCFGS
660 670 680 690 700
RSRKVKEQYQ DVPMPEEKSN PKGVEWLWHS IVIRMYLSLI AKSVRNYTQE
710 720 730 740 750
ASLGALQNLT AGSGPMPTSV AQTVVQKESG LQHTRKMLHV GDPSVKKTAI
760 770 780 790 800
SLLRNLSRNL SLQNEIAKET LPDLVSIIPD TVPSTDLLIE TTASACYTLN
810 820 830 840 850
NIIQNSYQNA RDLLNTGGIQ KIMAISAGDA YASNKASKAA SVLLYSLWAH
860 870 880
TELHHAYKKA QFKKTDFVNS RTAKAYHSLK D
Note: Undetected in heart.
Length:881
Mass (Da):97,415
Last modified:May 18, 2010 - v2
Checksum:i947838B0C8275D5D
GO
Isoform 1 (identifier: Q99959-2) [UniParc]FASTAAdd to basket
Also known as: A

The sequence of this isoform differs from the canonical sequence as follows:
     460-503: Missing.

Note: Major isoform in heart.
Show »
Length:837
Mass (Da):92,756
Checksum:i8E9553F9B820E8DF
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WXY2A0A087WXY2_HUMAN
Plakophilin-2
PKP2
36Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06570126D → N May be associated with increased susceptibility to arrhythmogenic right ventricular cardiomyopathy. 2 PublicationsCorresponds to variant dbSNP:rs143004808EnsemblClinVar.1
Natural variantiVAR_06570258E → D1 PublicationCorresponds to variant dbSNP:rs146708884EnsemblClinVar.1
Natural variantiVAR_08039759Q → L in ARVD9; unknown pathological significance; decreased interaction with DSP. 1 PublicationCorresponds to variant dbSNP:rs730880179EnsemblClinVar.1
Natural variantiVAR_06570362Q → K in ARVD9; unknown pathological significance; decreased protein stability; decreased interaction with DSP; does not affect subcellular location to the desmosomes. 2 PublicationsCorresponds to variant dbSNP:rs199601548EnsemblClinVar.1
Natural variantiVAR_06570470S → I3 PublicationsCorresponds to variant dbSNP:rs75909145EnsemblClinVar.1
Natural variantiVAR_07027676N → S1 PublicationCorresponds to variant dbSNP:rs1201224837Ensembl.1
Natural variantiVAR_08039879 – 881Missing in ARVD9. 1 PublicationAdd BLAST803
Natural variantiVAR_070277112K → N1 Publication1
Natural variantiVAR_065705137E → K in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs781739949EnsemblClinVar.1
Natural variantiVAR_021148140S → F3 PublicationsCorresponds to variant dbSNP:rs150821281EnsemblClinVar.1
Natural variantiVAR_065706169S → G in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs139139859EnsemblClinVar.1
Natural variantiVAR_065707195A → V1 PublicationCorresponds to variant dbSNP:rs1041783952Ensembl.1
Natural variantiVAR_065708276P → S1 PublicationCorresponds to variant dbSNP:rs201944276EnsemblClinVar.1
Natural variantiVAR_065709338T → A1 PublicationCorresponds to variant dbSNP:rs139851304EnsemblClinVar.1
Natural variantiVAR_063108366L → P5 PublicationsCorresponds to variant dbSNP:rs1046116EnsemblClinVar.1
Natural variantiVAR_065710372A → P2 PublicationsCorresponds to variant dbSNP:rs200586695EnsemblClinVar.1
Natural variantiVAR_065711424F → S in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs397516990EnsemblClinVar.1
Natural variantiVAR_065712489G → R in ARVD9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111450489EnsemblClinVar.1
Natural variantiVAR_070037490R → W1 PublicationCorresponds to variant dbSNP:rs149930872EnsemblClinVar.1
Natural variantiVAR_065713526T → M1 PublicationCorresponds to variant dbSNP:rs146882581EnsemblClinVar.1
Natural variantiVAR_065714531I → S2 PublicationsCorresponds to variant dbSNP:rs147240502EnsemblClinVar.1
Natural variantiVAR_065715587V → I May be associated with increased susceptibility to arrhythmogenic right ventricular cardiomyopathy. 4 PublicationsCorresponds to variant dbSNP:rs146102241EnsemblClinVar.1
Natural variantiVAR_021149615S → F in ARVD9; impairs protein stability. 2 PublicationsCorresponds to variant dbSNP:rs1060501186Ensembl.1
Natural variantiVAR_065716631Y → C in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs1060501183Ensembl.1
Natural variantiVAR_021150654K → Q in ARVD9; impairs protein stability. 2 PublicationsCorresponds to variant dbSNP:rs1319690519Ensembl.1
Natural variantiVAR_065717673G → V in ARVD9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1426480515Ensembl.1
Natural variantiVAR_065718787L → F in ARVD9. 1 PublicationCorresponds to variant dbSNP:rs1462688980Ensembl.1
Natural variantiVAR_021151796C → R in ARVD9; impairs protein stability. 2 PublicationsCorresponds to variant dbSNP:rs794729098EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_006736460 – 503Missing in isoform 1. 2 PublicationsAdd BLAST44

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X97675 mRNA Translation: CAA66264.1
X97675 mRNA Translation: CAA66265.1
EU492903 Genomic DNA Translation: ACD03459.1
EU520483 mRNA Translation: ACD13292.1
EU520484 mRNA Translation: ACD13293.1
AC087311 Genomic DNA No translation available.
AC087588 Genomic DNA No translation available.
CH471116 Genomic DNA Translation: EAW88511.1
CH471116 Genomic DNA Translation: EAW88514.1
CH471116 Genomic DNA Translation: EAW88515.1
BC094762 mRNA Translation: AAH94762.1
BC126199 mRNA Translation: AAI26200.1
BC143966 mRNA Translation: AAI43967.1
CCDSiCCDS31771.1 [Q99959-2]
CCDS8731.1 [Q99959-1]
RefSeqiNP_001005242.2, NM_001005242.2 [Q99959-2]
NP_004563.2, NM_004572.3 [Q99959-1]
UniGeneiHs.164384

Genome annotation databases

EnsembliENST00000070846; ENSP00000070846; ENSG00000057294 [Q99959-1]
ENST00000340811; ENSP00000342800; ENSG00000057294 [Q99959-2]
GeneIDi5318
KEGGihsa:5318
UCSCiuc001rlj.5 human [Q99959-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X97675 mRNA Translation: CAA66264.1
X97675 mRNA Translation: CAA66265.1
EU492903 Genomic DNA Translation: ACD03459.1
EU520483 mRNA Translation: ACD13292.1
EU520484 mRNA Translation: ACD13293.1
AC087311 Genomic DNA No translation available.
AC087588 Genomic DNA No translation available.
CH471116 Genomic DNA Translation: EAW88511.1
CH471116 Genomic DNA Translation: EAW88514.1
CH471116 Genomic DNA Translation: EAW88515.1
BC094762 mRNA Translation: AAH94762.1
BC126199 mRNA Translation: AAI26200.1
BC143966 mRNA Translation: AAI43967.1
CCDSiCCDS31771.1 [Q99959-2]
CCDS8731.1 [Q99959-1]
RefSeqiNP_001005242.2, NM_001005242.2 [Q99959-2]
NP_004563.2, NM_004572.3 [Q99959-1]
UniGeneiHs.164384

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3TT9X-ray1.55A346-620[»]
ProteinModelPortaliQ99959
SMRiQ99959
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111335, 61 interactors
IntActiQ99959, 49 interactors
MINTiQ99959
STRINGi9606.ENSP00000070846

PTM databases

iPTMnetiQ99959
PhosphoSitePlusiQ99959
SwissPalmiQ99959

Polymorphism and mutation databases

BioMutaiPKP2
DMDMi296452867

Proteomic databases

EPDiQ99959
MaxQBiQ99959
PaxDbiQ99959
PeptideAtlasiQ99959
PRIDEiQ99959
ProteomicsDBi78543
78544 [Q99959-2]

Protocols and materials databases

DNASUi5318
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000070846; ENSP00000070846; ENSG00000057294 [Q99959-1]
ENST00000340811; ENSP00000342800; ENSG00000057294 [Q99959-2]
GeneIDi5318
KEGGihsa:5318
UCSCiuc001rlj.5 human [Q99959-1]

Organism-specific databases

CTDi5318
DisGeNETi5318
EuPathDBiHostDB:ENSG00000057294.13
GeneCardsiPKP2
GeneReviewsiPKP2
HGNCiHGNC:9024 PKP2
HPAiCAB037336
HPA014314
HPA056908
MalaCardsiPKP2
MIMi602861 gene
609040 phenotype
neXtProtiNX_Q99959
OpenTargetsiENSG00000057294
Orphaneti130 Brugada syndrome
293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
54260 Left ventricular noncompaction
PharmGKBiPA33357
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1048 Eukaryota
ENOG410Y21Q LUCA
GeneTreeiENSGT00760000119167
HOGENOMiHOG000092312
HOVERGENiHBG009157
InParanoidiQ99959
KOiK12642
OMAiELHNAYK
OrthoDBiEOG091G01YT
PhylomeDBiQ99959
TreeFamiTF321877

Enzyme and pathway databases

ReactomeiR-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope
SignaLinkiQ99959

Miscellaneous databases

ChiTaRSiPKP2 human
GeneWikiiPKP2
GenomeRNAii5318
PROiPR:Q99959
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000057294 Expressed in 177 organ(s), highest expression level in heart
CleanExiHS_PKP2
ExpressionAtlasiQ99959 baseline and differential
GenevisibleiQ99959 HS

Family and domain databases

InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR000225 Armadillo
IPR028435 Plakophilin/d_Catenin
PANTHERiPTHR10372 PTHR10372, 1 hit
PfamiView protein in Pfam
PF00514 Arm, 1 hit
SMARTiView protein in SMART
SM00185 ARM, 5 hits
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS50176 ARM_REPEAT, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPKP2_HUMAN
AccessioniPrimary (citable) accession number: Q99959
Secondary accession number(s): A0AV37
, B8QFA1, B8QGS6, B8QGS7, D3DUW9, Q4VC01, Q99960
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 184 of the entry and version 2 of the sequence. See 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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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