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UniProtKB - P23942 (PRPH2_HUMAN)

Protein

Peripherin-2

Gene

PRPH2

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

Functioni

May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis.

GO - Biological processi

  • cell adhesion Source: UniProtKB-KW
  • cell surface receptor signaling pathway Source: GO_Central
  • retina development in camera-type eye Source: Ensembl
  • visual perception Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCell adhesion

Protein family/group databases

TCDBi8.A.40.1.3 the tetraspanin (tetraspanin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Peripherin-2
Alternative name(s):
Retinal degeneration slow protein
Tetraspanin-22
Short name:
Tspan-22
Gene namesi
Name:PRPH2
Synonyms:PRPH, RDS, TSPAN22
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112619.7
HGNCiHGNC:9942 PRPH2
MIMi179605 gene
neXtProtiNX_P23942

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 24CytoplasmicSequence analysisAdd BLAST24
Transmembranei25 – 43HelicalSequence analysisAdd BLAST19
Topological domaini44 – 61LumenalSequence analysisAdd BLAST18
Transmembranei62 – 80HelicalSequence analysisAdd BLAST19
Topological domaini81 – 99CytoplasmicSequence analysisAdd BLAST19
Transmembranei100 – 123HelicalSequence analysisAdd BLAST24
Topological domaini124 – 264LumenalSequence analysisAdd BLAST141
Transmembranei265 – 290HelicalSequence analysisAdd BLAST26
Topological domaini291 – 346CytoplasmicSequence analysisAdd BLAST56

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 7 (RP7)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:608133
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00685313R → W in RP7; in combination with a null mutation of ROM1. 1
Natural variantiVAR_006858118Missing in RP7. 1 Publication1
Natural variantiVAR_075759126L → P in RP7. 1 Publication1
Natural variantiVAR_006859126L → R in RP7. 1
Natural variantiVAR_006860142R → W in RP7; also found in a patient with central areolar choroidal dystrophy. 1 Publication1
Natural variantiVAR_006861153K → R in RP7. 1
Natural variantiVAR_006862153Missing in RP7. 1
Natural variantiVAR_006864165C → Y in RP7. 1
Natural variantiVAR_006869173D → V in RP7. 1
Natural variantiVAR_006871185L → P in RP7; digenic inheritance; results in disease in combination with a null mutation of ROM1. 1 Publication1
Natural variantiVAR_075762198S → R in RP7; decreased protein expression. 2 Publications1
Natural variantiVAR_006873208G → D in RP7. 1 Publication1
Natural variantiVAR_075764210P → L in RP7; decreased protein expression. 2 Publications1
Natural variantiVAR_006875210P → S in RP7. 1
Natural variantiVAR_006876211F → L in RP7. 1
Natural variantiVAR_006877212S → G in RP7. 1 Publication1
Natural variantiVAR_006880214C → S in RP7; decreased protein expression. 1 Publication1
Natural variantiVAR_075765216P → A in RP7. 1 Publication1
Natural variantiVAR_006881216P → L in RP7. 1 Publication1
Natural variantiVAR_075766216P → R in RP7. 1 Publication1
Natural variantiVAR_006882216P → S in RP7. 1
Natural variantiVAR_006884219Missing in RP7. 1 Publication1
Natural variantiVAR_006887244N → K in RP7; with bulls-eye maculopathy. 1 Publication1
Natural variantiVAR_075768249G → S in RP7; decreased protein expression. 2 Publications1
Natural variantiVAR_006889266G → D in RP7. 1
Retinitis punctata albescens (RPA)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina.
See also OMIM:136880
Macular dystrophy, vitelliform, 3 (VMD3)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of vitelliform macular dystrophy, a retinal disease characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity.
See also OMIM:608161
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075763209V → I in VMD3; increased protein expression. 2 Publications1
Natural variantiVAR_006878212S → T in VMD3. 1 Publication1
Natural variantiVAR_071974213C → F in VMD3. 1 Publication1
Natural variantiVAR_071975237 – 240Missing in VMD3. 1 Publication4
Natural variantiVAR_006890268V → I in VMD3. 1 Publication1
Natural variantiVAR_006892305G → D in VMD3. 1 Publication1
Macular dystrophy, patterned, 1 (MDPT1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of retinal patterned dystrophy, a heterogeneous group of macular disorders that includes reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy.
See also OMIM:169150
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00685667Missing in MDPT1; also in cone-rod dystrophy. 1
Natural variantiVAR_00685768G → R in MDPT1; also in cone-rod dystrophy. 1
Natural variantiVAR_006863157D → N in MDPT1. 1
Natural variantiVAR_006865167G → D in MDPT1; butterfly-shaped. 1 Publication1
Natural variantiVAR_032052167G → S in MDPT1; butterfly-shaped. 1 Publication1
Natural variantiVAR_006866172R → G in MDPT1; butterfly-shaped. 1
Natural variantiVAR_006872193Missing in MDPT1; also in cone-rod dystrophy. 1
Natural variantiVAR_006879213C → R in MDPT1. 1 Publication1
Natural variantiVAR_006885220R → Q in MDPT1; increased protein expression. 1 Publication1
Natural variantiVAR_006886220R → W in MDPT1. 1 Publication1
Choroidal dystrophy, central areolar 2 (CACD2)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris.
See also OMIM:613105
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075758123R → W in CACD2. 1 Publication1
Natural variantiVAR_032054195R → L in CACD2; increased protein expression. 3 PublicationsCorresponds to variant dbSNP:rs121918567EnsemblClinVar.1
Natural variantiVAR_075767221P → L in CACD2. 1 Publication1
Defects in PRPH2 are found in different retinal diseases including cone-rod dystrophy, retinitis pigmentosa, macular degeneration. The mutations underlying autosomal dominant retinitis pigmentosa and severe macular degeneration are largely missense or small in-frame deletions in a large intradiscal loop between the third and fourth transmembrane domains. In contrast, those associated with the milder pattern phenotypes or with digenic RP are scattered more evenly through the gene and are often nonsense mutations. This observation correlates with the hypothesis that the large loop is an important site of interaction between PRPH2 molecules and other protein components in the disk.

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi5961
GeneReviewsiPRPH2
MalaCardsiPRPH2
MIMi136880 phenotype
169150 phenotype
268000 phenotype
608133 phenotype
608161 phenotype
613105 phenotype
Orphaneti99000 Adult-onset foveomacular vitelliform dystrophy
99001 Butterfly-shaped pigment dystrophy
75377 Central areolar choroidal dystrophy
1872 Cone rod dystrophy
227796 Fundus albipunctatus
99003 Multifocal pattern dystrophy simulating fundus flavimaculatus
791 Retinitis pigmentosa
52427 Retinitis punctata albescens
827 Stargardt disease
PharmGKBiPA34310

Polymorphism and mutation databases

BioMutaiPRPH2
DMDMi132212

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001681051 – 346Peripherin-2Add BLAST346

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi53N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi229N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP23942
PeptideAtlasiP23942
PRIDEiP23942
ProteomicsDBi54167

PTM databases

iPTMnetiP23942
PhosphoSitePlusiP23942

Expressioni

Tissue specificityi

Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.

Gene expression databases

BgeeiENSG00000112619 Expressed in 120 organ(s), highest expression level in biceps brachii
CleanExiHS_PRPH
HS_PRPH2
GenevisibleiP23942 HS

Organism-specific databases

HPAiHPA029458

Interactioni

Subunit structurei

Homodimer; disulfide-linked. Probably forms a complex with a ROM1 homodimer. Other proteins could associate with this complex in rods. Interacts with MREG.

Protein-protein interaction databases

STRINGi9606.ENSP00000230381

Structurei

3D structure databases

ProteinModelPortaliP23942
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni341 – 346Interaction with MREGBy similarity6

Sequence similaritiesi

Belongs to the PRPH2/ROM1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3882 Eukaryota
ENOG4111IRY LUCA
HOGENOMiHOG000026780
HOVERGENiHBG004964
InParanoidiP23942
KOiK17343
OrthoDBiEOG091G0956
PhylomeDBiP23942
TreeFamiTF331684

Family and domain databases

Gene3Di1.10.1450.10, 1 hit
InterProiView protein in InterPro
IPR000830 Peripherin/rom-1
IPR018498 Peripherin/rom-1_CS
IPR018499 Tetraspanin/Peripherin
IPR008952 Tetraspanin_EC2_sf
PfamiView protein in Pfam
PF00335 Tetraspannin, 1 hit
PRINTSiPR00218 PERIPHERNRDS
SUPFAMiSSF48652 SSF48652, 1 hit
PROSITEiView protein in PROSITE
PS00930 RDS_ROM1, 1 hit

Sequencei

Sequence statusi: Complete.

P23942-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MALLKVKFDQ KKRVKLAQGL WLMNWFSVLA GIIIFSLGLF LKIELRKRSD 
        60         70         80         90        100
VMNNSESHFV PNSLIGMGVL SCVFNSLAGK ICYDALDPAK YARWKPWLKP 
       110        120        130        140        150
YLAICVLFNI ILFLVALCCF LLRGSLENTL GQGLKNGMKY YRDTDTPGRC 
       160        170        180        190        200
FMKKTIDMLQ IEFKCCGNNG FRDWFEIQWI SNRYLDFSSK EVKDRIKSNV 
       210        220        230        240        250
DGRYLVDGVP FSCCNPSSPR PCIQYQITNN SAHYSYDHQT EELNLWVRGC 
       260        270        280        290        300
RAALLSYYSS LMNSMGVVTL LIWLFEVTIT IGLRYLQTSL DGVSNPEESE 
       310        320        330        340 
SESEGWLLEK SVPETWKAFL ESVKKLGKGN QVEAEGAGAG QAPEAG
Length:346
Mass (Da):39,186
Last modified:March 1, 1992 - v1
Checksum:i2BB3C5415E194D2A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti44E → G in AAH74720 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00685313R → W in RP7; in combination with a null mutation of ROM1. 1
Natural variantiVAR_00685432I → V in some patients with macular dystrophy. 1
Natural variantiVAR_00685545L → F in RP7 and VMD3; results in retinitis pigmentosa in combination with a null mutation of ROM1. 1 PublicationCorresponds to variant dbSNP:rs61755770EnsemblClinVar.1
Natural variantiVAR_00685667Missing in MDPT1; also in cone-rod dystrophy. 1
Natural variantiVAR_00685768G → R in MDPT1; also in cone-rod dystrophy. 1
Natural variantiVAR_006858118Missing in RP7. 1 Publication1
Natural variantiVAR_075758123R → W in CACD2. 1 Publication1
Natural variantiVAR_075759126L → P in RP7. 1 Publication1
Natural variantiVAR_006859126L → R in RP7. 1
Natural variantiVAR_075760137G → S1 Publication1
Natural variantiVAR_075761141Y → C in RP7 and VMD3. 2 Publications1
Natural variantiVAR_006860142R → W in RP7; also found in a patient with central areolar choroidal dystrophy. 1 Publication1
Natural variantiVAR_006861153K → R in RP7. 1
Natural variantiVAR_006862153Missing in RP7. 1
Natural variantiVAR_006863157D → N in MDPT1. 1
Natural variantiVAR_006864165C → Y in RP7. 1
Natural variantiVAR_006865167G → D in MDPT1; butterfly-shaped. 1 Publication1
Natural variantiVAR_032052167G → S in MDPT1; butterfly-shaped. 1 Publication1
Natural variantiVAR_032053169Missing in some patients with macular dystrophy. 1 Publication1
Natural variantiVAR_006866172R → G in MDPT1; butterfly-shaped. 1
Natural variantiVAR_006867172R → Q in some patients with macular dystrophy. 1 Publication1
Natural variantiVAR_006868172R → W in some patients with macular dystrophy; also in a family affected by central areolar choroidal dystrophy. 3 Publications1
Natural variantiVAR_006869173D → V in RP7. 1
Natural variantiVAR_006870184Y → S in cone-rod dystrophy. 1
Natural variantiVAR_006871185L → P in RP7; digenic inheritance; results in disease in combination with a null mutation of ROM1. 1 Publication1
Natural variantiVAR_006872193Missing in MDPT1; also in cone-rod dystrophy. 1
Natural variantiVAR_032054195R → L in CACD2; increased protein expression. 3 PublicationsCorresponds to variant dbSNP:rs121918567EnsemblClinVar.1
Natural variantiVAR_075762198S → R in RP7; decreased protein expression. 2 Publications1
Natural variantiVAR_006873208G → D in RP7. 1 Publication1
Natural variantiVAR_075763209V → I in VMD3; increased protein expression. 2 Publications1
Natural variantiVAR_075764210P → L in RP7; decreased protein expression. 2 Publications1
Natural variantiVAR_006874210P → R in MDPT1 and RP7; also in adult-onset foveomacular dystrophy with choroidal neovascularization. 3 Publications1
Natural variantiVAR_006875210P → S in RP7. 1
Natural variantiVAR_006876211F → L in RP7. 1
Natural variantiVAR_006877212S → G in RP7. 1 Publication1
Natural variantiVAR_006878212S → T in VMD3. 1 Publication1
Natural variantiVAR_071974213C → F in VMD3. 1 Publication1
Natural variantiVAR_006879213C → R in MDPT1. 1 Publication1
Natural variantiVAR_006880214C → S in RP7; decreased protein expression. 1 Publication1
Natural variantiVAR_075765216P → A in RP7. 1 Publication1
Natural variantiVAR_006881216P → L in RP7. 1 Publication1
Natural variantiVAR_075766216P → R in RP7. 1 Publication1
Natural variantiVAR_006882216P → S in RP7. 1
Natural variantiVAR_006883219P → R in some patients with macular dystrophy. 1 Publication1
Natural variantiVAR_006884219Missing in RP7. 1 Publication1
Natural variantiVAR_006885220R → Q in MDPT1; increased protein expression. 1 Publication1
Natural variantiVAR_006886220R → W in MDPT1. 1 Publication1
Natural variantiVAR_075767221P → L in CACD2. 1 Publication1
Natural variantiVAR_071975237 – 240Missing in VMD3. 1 Publication4
Natural variantiVAR_006888244N → H in cone-rod dystrophy. 1
Natural variantiVAR_006887244N → K in RP7; with bulls-eye maculopathy. 1 Publication1
Natural variantiVAR_075768249G → S in RP7; decreased protein expression. 2 Publications1
Natural variantiVAR_006889266G → D in RP7. 1
Natural variantiVAR_006890268V → I in VMD3. 1 Publication1
Natural variantiVAR_006891304E → Q Polymorphism; associated with D-338 on the same haplotype. 2 PublicationsCorresponds to variant dbSNP:rs390659Ensembl.1
Natural variantiVAR_006892305G → D in VMD3. 1 Publication1
Natural variantiVAR_006893310K → R1 PublicationCorresponds to variant dbSNP:rs425876Ensembl.1
Natural variantiVAR_006894313P → L1 PublicationCorresponds to variant dbSNP:rs61748434EnsemblClinVar.1
Natural variantiVAR_006895338G → D Polymorphism; associated with Q-304 on the same haplotype. 2 PublicationsCorresponds to variant dbSNP:rs434102Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M73531 mRNA Translation: AAA60260.1
U07149, U07147, U07148 Genomic DNA Translation: AAA16958.1
AL049843 Genomic DNA No translation available.
BC074720 mRNA Translation: AAH74720.1
CCDSiCCDS4871.1
PIRiA40308
RefSeqiNP_000313.2, NM_000322.4
UniGeneiHs.654489

Genome annotation databases

EnsembliENST00000230381; ENSP00000230381; ENSG00000112619
GeneIDi5961
KEGGihsa:5961
UCSCiuc003osk.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Mutations of the RDS gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M73531 mRNA Translation: AAA60260.1
U07149, U07147, U07148 Genomic DNA Translation: AAA16958.1
AL049843 Genomic DNA No translation available.
BC074720 mRNA Translation: AAH74720.1
CCDSiCCDS4871.1
PIRiA40308
RefSeqiNP_000313.2, NM_000322.4
UniGeneiHs.654489

3D structure databases

ProteinModelPortaliP23942
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000230381

Protein family/group databases

TCDBi8.A.40.1.3 the tetraspanin (tetraspanin) family

PTM databases

iPTMnetiP23942
PhosphoSitePlusiP23942

Polymorphism and mutation databases

BioMutaiPRPH2
DMDMi132212

Proteomic databases

PaxDbiP23942
PeptideAtlasiP23942
PRIDEiP23942
ProteomicsDBi54167

Protocols and materials databases

DNASUi5961
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000230381; ENSP00000230381; ENSG00000112619
GeneIDi5961
KEGGihsa:5961
UCSCiuc003osk.4 human

Organism-specific databases

CTDi5961
DisGeNETi5961
EuPathDBiHostDB:ENSG00000112619.7
GeneCardsiPRPH2
GeneReviewsiPRPH2
H-InvDBiHIX0025091
HGNCiHGNC:9942 PRPH2
HPAiHPA029458
MalaCardsiPRPH2
MIMi136880 phenotype
169150 phenotype
179605 gene
268000 phenotype
608133 phenotype
608161 phenotype
613105 phenotype
neXtProtiNX_P23942
Orphaneti99000 Adult-onset foveomacular vitelliform dystrophy
99001 Butterfly-shaped pigment dystrophy
75377 Central areolar choroidal dystrophy
1872 Cone rod dystrophy
227796 Fundus albipunctatus
99003 Multifocal pattern dystrophy simulating fundus flavimaculatus
791 Retinitis pigmentosa
52427 Retinitis punctata albescens
827 Stargardt disease
PharmGKBiPA34310
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3882 Eukaryota
ENOG4111IRY LUCA
HOGENOMiHOG000026780
HOVERGENiHBG004964
InParanoidiP23942
KOiK17343
OrthoDBiEOG091G0956
PhylomeDBiP23942
TreeFamiTF331684

Miscellaneous databases

ChiTaRSiPRPH2 human
GeneWikiiPeripherin_2
GenomeRNAii5961
PROiPR:P23942
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112619 Expressed in 120 organ(s), highest expression level in biceps brachii
CleanExiHS_PRPH
HS_PRPH2
GenevisibleiP23942 HS

Family and domain databases

Gene3Di1.10.1450.10, 1 hit
InterProiView protein in InterPro
IPR000830 Peripherin/rom-1
IPR018498 Peripherin/rom-1_CS
IPR018499 Tetraspanin/Peripherin
IPR008952 Tetraspanin_EC2_sf
PfamiView protein in Pfam
PF00335 Tetraspannin, 1 hit
PRINTSiPR00218 PERIPHERNRDS
SUPFAMiSSF48652 SSF48652, 1 hit
PROSITEiView protein in PROSITE
PS00930 RDS_ROM1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPRPH2_HUMAN
AccessioniPrimary (citable) accession number: P23942
Secondary accession number(s): Q5TFH5, Q6DK65
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: March 1, 1992
Last modified: November 7, 2018
This is version 175 of the entry and version 1 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

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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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