Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q96JG9 (ZN469_HUMAN)

Protein

Zinc finger protein 469

Gene

ZNF469

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

Functioni

May be involved in transcriptional regulation.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri2444 – 2470C2H2-type 1PROSITE-ProRule annotationAdd BLAST27
Zinc fingeri3087 – 3109C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri3309 – 3331C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri3337 – 3360C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri3390 – 3414C2H2-type 5; degeneratePROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 469
Gene namesi
Name:ZNF469
Synonyms:KIAA1858
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 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000225614.2
HGNCiHGNC:23216 ZNF469
MIMi612078 gene
neXtProtiNX_Q96JG9

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

Nucleus

Pathology & Biotechi

Involvement in diseasei

Brittle cornea syndrome 1 (BCS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints. It shares some features with, but is much less severe than, the ocular form of Ehlers-Danlos syndrome (EDS6).
See also OMIM:229200

Organism-specific databases

DisGeNETi84627
MalaCardsiZNF469
MIMi229200 phenotype
Orphaneti90354 Brittle cornea syndrome
PharmGKBiPA134861470

Polymorphism and mutation databases

BioMutaiZNF469
DMDMi158518658

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000476021 – 3925Zinc finger protein 469Add BLAST3925

Proteomic databases

MaxQBiQ96JG9
PaxDbiQ96JG9
PeptideAtlasiQ96JG9
PRIDEiQ96JG9
ProteomicsDBi76962

PTM databases

iPTMnetiQ96JG9
PhosphoSitePlusiQ96JG9

Expressioni

Tissue specificityi

Detected in cornea, sclera, skin fibroblasts and striated muscle.1 Publication

Gene expression databases

BgeeiENSG00000225614 Expressed in 175 organ(s), highest expression level in testis
CleanExiHS_ZNF469
ExpressionAtlasiQ96JG9 baseline and differential
GenevisibleiQ96JG9 HS

Organism-specific databases

HPAiHPA069784

Interactioni

Protein-protein interaction databases

BioGridi124156, 1 interactor
IntActiQ96JG9, 1 interactor
STRINGi9606.ENSP00000402343

Structurei

3D structure databases

ProteinModelPortaliQ96JG9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi2 – 713Pro-richAdd BLAST712
Compositional biasi974 – 1042Arg-richAdd BLAST69
Compositional biasi1232 – 1515Pro-richAdd BLAST284

Sequence similaritiesi

Belongs to the krueppel C2H2-type zinc-finger protein family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri2444 – 2470C2H2-type 1PROSITE-ProRule annotationAdd BLAST27
Zinc fingeri3087 – 3109C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri3309 – 3331C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri3337 – 3360C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri3390 – 3414C2H2-type 5; degeneratePROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
HOGENOMiHOG000155797
InParanoidiQ96JG9
PhylomeDBiQ96JG9

Family and domain databases

InterProiView protein in InterPro
IPR039270 ZNF469
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PANTHERiPTHR21465 PTHR21465, 1 hit
PfamiView protein in Pfam
PF00096 zf-C2H2, 1 hit
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 8 hits
SUPFAMiSSF57667 SSF57667, 1 hit
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 6 hits
PS50157 ZINC_FINGER_C2H2_2, 3 hits

Sequence (1+)i

Sequence statusi: Complete.

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

Q96JG9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPGERPRGAP PPTMTGDLQP RQVASSPGHP SQPPLEDNTP ATRTTKGARE 
        60         70         80         90        100
AGGQAQAMEL PEAQPRQARD GELKPPSLRG QAPSSTPGKR GSPQTPPGRS 
       110        120        130        140        150
PLQAPSRLAG RAEGSPPQRY ILGIASSRTK PTLDETPENP QLEAAQLPEV 
       160        170        180        190        200
DTPQGPGTGA PLRPGLPRTE AQPAAEELGF HRCFQEPPSS FTSTNYTSPS 
       210        220        230        240        250
ATPRPPAPGP PQSRGTSPLQ PGSYPEYQAS GADSWPPAAE NSFPGANFGV 
       260        270        280        290        300
PPAEPEPIPK GSRPGGSPRG VSFQFPFPAL HGASTKPFPA DVAGHAFTNG 
       310        320        330        340        350
PLVFAFHQPQ GAWPEEAVGT GPAYPLPTQP APSPLPCYQG QPGGLNRHSD 
       360        370        380        390        400
LSGALSSPGA AHSAPRPFSD SLHKSLTKIL PERPPSAQDG LGSTRGPPSS 
       410        420        430        440        450
LPQRHFPGQA YRASGVDTSP GPPDTELAAP GPPPARLPQL WDPTAAPYPT 
       460        470        480        490        500
PPGGPLAATR SMFFNGQPSP GQRLCLPQSA PLPWPQVLPT ARPSPHGMEM 
       510        520        530        540        550
LSRLPFPAGG PEWQGGSQGA LGTAGKTPGP REKLPAVRSS QGGSPALFTY 
       560        570        580        590        600
NGMTDPGAQP LFFGVAQPQV SPHGTPSLPP PRVVGASPSE SPLPSPATNT 
       610        620        630        640        650
AGSTCSSLSP MSSSPANPSS EESQLPGPLG PSAFFHPPTH PQETGSPFPS 
       660        670        680        690        700
PEPPHSLPTH YQPEPAKAFP FPADGLGAEG AFQCLEETPF PHEGPEVGRG 
       710        720        730        740        750
GLQGFPRAPP PYPTHHFSLS SASLDQLDVL LTCRQCDRNY SSLAAFLAHR 
       760        770        780        790        800
QFCGLLLARA KDGHQRSPGP PGLPSPPAAP RVPADAHAGL LSHAKTFLLA 
       810        820        830        840        850
GDAQAEGKDD PLRTGFLPSL AATPFPLPAS DLDMEDDAKL DSLITEALNG 
       860        870        880        890        900
MEYQSDNPEI DSSFIDVFAD EEPSGPRGPS SGHPLKSKAG VTPESKAPPP 
       910        920        930        940        950
LPAATPDPQT PRPGDRGCPA RGRPKTRSLG LAPTEADAPS QGRQQRRGKQ 
       960        970        980        990       1000
LKLFRKDLDS GGAAEGSGSG GGGRASGLRP RRNDGLGERP PPRPRRPRTQ 
      1010       1020       1030       1040       1050
APGSRADPAP RVPRAAALPE ETRSSRRRRL PPRKDPRKRK ARGGAWGKEL 
      1060       1070       1080       1090       1100
ILKIVQQKNR LREYDFASES EEDEQPPPRG PGFRGRRGRG EKRKEVELTQ 
      1110       1120       1130       1140       1150
GPREDEPQKP RKAARQEAGG DGAPANPEEP GGSRPGPGRS PQARGPSRSL 
      1160       1170       1180       1190       1200
ETGAAAREGG PKCADRPSVA PKDPLQVPTN TETSEETRPS LDFPQEAKEP 
      1210       1220       1230       1240       1250
ETAEESAPDS TEFTEALRSP PAACAGEMGA SPGLLIPEQP PPSRHDTGTP 
      1260       1270       1280       1290       1300
KPSGSLANTA PHGSSPTPGV GSLLGGPGGT QAPVSHNSKD PPARQPGEFL 
      1310       1320       1330       1340       1350
APVANPSSTA CPKPSVLSSK ISSFGCDPAG FNRDPLGVPV AKKGPQPYSS 
      1360       1370       1380       1390       1400
PHSELFLGPK DLAGCFLEEL HPKPSARDAP PASSSCLCQD GEDAGSLEPQ 
      1410       1420       1430       1440       1450
LPRSPPGTAE TEPGRAASPP TLESSSLFPD LPVDRFDPPL YGSLSANRDS 
      1460       1470       1480       1490       1500
GLPFACADPP QKTVPSDPPY PSFLLLEEVS PMLPSHFPDL SGGKVLSKTC 
      1510       1520       1530       1540       1550
PPERTVVPGA APSLPGKGSG CSVALMSHLS EDELEIQKLV TELESQLQRS 
      1560       1570       1580       1590       1600
KDTRGAPREL AEAESVGRVE LGTGTEPPSQ RRTCQATVPH EDTFSAADLT 
      1610       1620       1630       1640       1650
RVGESTAHRE GAESAVATVE AVQGRPGGTW PCPASFHPGH AALLPCAQED 
      1660       1670       1680       1690       1700
LVSGAPFSPR GANFHFQPVQ KAGASKTGLC QAEGDSRPPQ DVCLPEPSKQ 
      1710       1720       1730       1740       1750
PGPQLDAGSL AKCSPDQELS FPKNKEAASS QESEDSLRLL PCEQRGGFLP 
      1760       1770       1780       1790       1800
EPGTADQPHR GAPAPEAFGS PAVHLAPDLA FQGDGAPPLD ATWPFGASPS 
      1810       1820       1830       1840       1850
HAAQGHSAGR AGGHLHPTAG RPGFEGNEFA PAGASSLTAP RGREAWLVPV 
      1860       1870       1880       1890       1900
PSPACVSNTH PSRRSQDPAL SPPIRQLQLP GPGVAKSKDG ILGLQELTPA 
      1910       1920       1930       1940       1950
AQSPPRVNPS GLEGGTVEGG KVACGPAQGS PGGVQVTTLP AVAGHQLGLE 
      1960       1970       1980       1990       2000
ADGHWGLLGQ AEKTQGQGTA NQLQPENGVS PGGTDNHASV NASPKTALTG 
      2010       2020       2030       2040       2050
PTEGAVLLEK CKGSRAAMSL QEEAEPTPSP PSPNRESLAL ALTAAHSRSG 
      2060       2070       2080       2090       2100
SEGRTPERAS SPGLNKPLLA TGDSPAPSVG DLAACAPSPT SAAHMPCSLG 
      2110       2120       2130       2140       2150
PLPREDPLTS PSRAQGGLGG QLPASPSCRD PPGPQQLLAC SPAWAPLEEA 
      2160       2170       2180       2190       2200
DGVQATTDTG AEDSPVAPPS LTTSPCDPKE ALAGCLLQGE GSPLEDPSSW 
      2210       2220       2230       2240       2250
PPGSVSAVTC THSGDTPKDS TLRIPEDSRK EKLWESPGRA TSPPLAGAVS 
      2260       2270       2280       2290       2300
PSVAVRATGL SSTPTGDEAQ AGRGLPGPDP QSRGAPPHTN PDRMPRGHSS 
      2310       2320       2330       2340       2350
YSPSNTARLG HREGQAVTAV PTEPPTLQGA GPDSPACLEG EMGTSSKEPE 
      2360       2370       2380       2390       2400
DPGTPETGRS GATKMPRVTC PSTGLGLGRT TAPSSTASDF QSDSPQSHRN 
      2410       2420       2430       2440       2450
ASHQTPQGDP LGPQDLKQRS RGYKKKPAST ENGQWKGQAP HGPVTCEVCA 
      2460       2470       2480       2490       2500
ASFRSGPGLS RHKARKHRPH PGAPAEPSPA ALPAQQPLEP LAQKCQPPRK 
      2510       2520       2530       2540       2550
KSHRVSGKER PNHSRGDPSH VTQPPPAQGS KEVLRAPGSP HSQQLHPPSP 
      2560       2570       2580       2590       2600
TEHEVDVKTP ASKPRPDQAR EDELHPKQAE KREGRRWRRE PTVDSPSHSE 
      2610       2620       2630       2640       2650
GKSNKKRGKL RGRRLREESI LPVSADVISD GRGSRPSPAM ASYAASPSHC 
      2660       2670       2680       2690       2700
LSVEGGPEAD GEQPPRLATL GPGVMEGAAE TDQEALCAGE TGAQKPPGDR 
      2710       2720       2730       2740       2750
MLCPGRMDGA ALGEQPTGQK GASARGFWGP RETKALGVCK ESGSEPAEDS 
      2760       2770       2780       2790       2800
SRAHSRSEEG VWEENTPPLG PLGFPETSSS PADSTTSSCL QGLPDNPDTQ 
      2810       2820       2830       2840       2850
GGVQGPEGPT PDASGSSAKD PPSLFDDEVS FSQLFPPGGR LTRKRNPHVY 
      2860       2870       2880       2890       2900
GKRCEKPVLP LPTQPSFEEG GDPTLGPARL PTDLSDSSSL CLCHEDPWED 
      2910       2920       2930       2940       2950
EDPAGLPESF LLDGFLNSRV PGIDPWAPGL SLWALEPSRE AGAEKLPSHC 
      2960       2970       2980       2990       3000
PEDDRPEAIP ELHMVPAAWR GLEMPAPADD SSSSLGDVSP EPPSLERERC 
      3010       3020       3030       3040       3050
DGGLPGNTHL LPLRATDFEV LSTKFEMQDL CFLGPFEDPV GLPGPSFLDF 
      3060       3070       3080       3090       3100
EGTASSQGPQ SRRTEEAAGA GRAQGRGRPA KGRRASYKCK VCFQRFRSLG 
      3110       3120       3130       3140       3150
ELDLHKLAHT PAPPPTCYMC VERRFGSREL LRGHLQERHA QSKAGPWACG 
      3160       3170       3180       3190       3200
MCLKEVADVW MYNEHLREHA VRFARRGQAR RSLGDLPGGL EGSSAVAHLL 
      3210       3220       3230       3240       3250
NSITEPAPKH HRGKRSAGKA AGSPGDPWGQ EGEAKKDSPG ERAKPRARST 
      3260       3270       3280       3290       3300
PSNPDGAATP DSASATALAD AGSPGPPRTT PSPSPDPWAG GEPLLQATPV 
      3310       3320       3330       3340       3350
HEACKDPSRD CHHCGKRFPK PFKLQRHLAV HSPQRVYLCP RCPRVYPEHG 
      3360       3370       3380       3390       3400
ELLAHLGGAH GLLERPELQH TPLYACELCA TVMRIIKKSF ACSSCNYTFA 
      3410       3420       3430       3440       3450
KKEQFDRHMN KHLRGGRQPF AFRGVRRPGA PGQKARALEG TLPSKRRRVA 
      3460       3470       3480       3490       3500
MPGSAPGPGE DRPPPRGSSP ILSEGSLPAL LHLCSEVAPS TTKGWPETLE 
      3510       3520       3530       3540       3550
RPVDPVTHPI RGCELPSNHQ ECPPPSLSPF PAALADGRGD CALDGALERP 
      3560       3570       3580       3590       3600
ENEASPGSPG PLLQQALPLG ASLPRPGARG QDAEGKRAPL VFSGKRRAPG 
      3610       3620       3630       3640       3650
ARGRCAPDHF QEDHLLQKEK EVSSSHMVSE GGPRGTFHKG SATKPAGCQS 
      3660       3670       3680       3690       3700
SSKDRSAAST PSKALKFPVH PRKAVGSLAP GELARGTENG MKPATPKAKP 
      3710       3720       3730       3740       3750
GPSSQGSGSP RPGTKTGGGS QPQPASGQLQ SETATTPAKP SFPSRSPAPE 
      3760       3770       3780       3790       3800
RLPARAQAKS CTKGPREAGE QGPHGSLGPK EKGESSTKRK KGQVPGPARS 
      3810       3820       3830       3840       3850
ESVGSFGRAP SAPDKPPRTP RKQATPSRVL PTKPKPNSQN KPRPPPSEQR 
      3860       3870       3880       3890       3900
KAEPGHTQRK DRLGKAFPQG RPLLRPPKRG TAVHGAEPAE PHTHRTAEAQ 
      3910       3920 
SDLLSQLFGQ RLTGFKIPLK KDASE
Length:3,925
Mass (Da):410,202
Last modified:July 24, 2007 - v3
Checksum:i7F4DDFA690574319
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BS19H3BS19_HUMAN
Zinc finger protein 469
ZNF469
3,953Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061949357S → P. Corresponds to variant dbSNP:rs11648572EnsemblClinVar.1
Natural variantiVAR_033285366R → S. Corresponds to variant dbSNP:rs11640794EnsemblClinVar.1
Natural variantiVAR_0332861162K → E. Corresponds to variant dbSNP:rs7197071EnsemblClinVar.1
Natural variantiVAR_0332871420P → L. Corresponds to variant dbSNP:rs4782300EnsemblClinVar.1
Natural variantiVAR_0332882129R → K. Corresponds to variant dbSNP:rs13334190EnsemblClinVar.1
Natural variantiVAR_0332892358G → R1 PublicationCorresponds to variant dbSNP:rs12598474EnsemblClinVar.1
Natural variantiVAR_0332902670L → Q1 PublicationCorresponds to variant dbSNP:rs3812956EnsemblClinVar.1
Natural variantiVAR_0332912710A → T. Corresponds to variant dbSNP:rs3812955EnsemblClinVar.1
Natural variantiVAR_0332922749D → V. Corresponds to variant dbSNP:rs3812954EnsemblClinVar.1
Natural variantiVAR_0332932848H → R1 PublicationCorresponds to variant dbSNP:rs1983014EnsemblClinVar.1
Natural variantiVAR_0332943630E → Q1 PublicationCorresponds to variant dbSNP:rs1105066EnsemblClinVar.1
Natural variantiVAR_0332953636T → A1 PublicationCorresponds to variant dbSNP:rs904783Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC135049 Genomic DNA No translation available.
AB058761 mRNA Translation: BAB47487.2
CCDSiCCDS45544.1
UniGeneiHs.54925

Genome annotation databases

EnsembliENST00000437464; ENSP00000402343; ENSG00000225614
UCSCiuc002fku.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC135049 Genomic DNA No translation available.
AB058761 mRNA Translation: BAB47487.2
CCDSiCCDS45544.1
UniGeneiHs.54925

3D structure databases

ProteinModelPortaliQ96JG9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124156, 1 interactor
IntActiQ96JG9, 1 interactor
STRINGi9606.ENSP00000402343

PTM databases

iPTMnetiQ96JG9
PhosphoSitePlusiQ96JG9

Polymorphism and mutation databases

BioMutaiZNF469
DMDMi158518658

Proteomic databases

MaxQBiQ96JG9
PaxDbiQ96JG9
PeptideAtlasiQ96JG9
PRIDEiQ96JG9
ProteomicsDBi76962

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000437464; ENSP00000402343; ENSG00000225614
UCSCiuc002fku.2 human

Organism-specific databases

DisGeNETi84627
EuPathDBiHostDB:ENSG00000225614.2
GeneCardsiZNF469
HGNCiHGNC:23216 ZNF469
HPAiHPA069784
MalaCardsiZNF469
MIMi229200 phenotype
612078 gene
neXtProtiNX_Q96JG9
Orphaneti90354 Brittle cornea syndrome
PharmGKBiPA134861470
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
HOGENOMiHOG000155797
InParanoidiQ96JG9
PhylomeDBiQ96JG9

Miscellaneous databases

ChiTaRSiZNF469 human
PROiPR:Q96JG9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000225614 Expressed in 175 organ(s), highest expression level in testis
CleanExiHS_ZNF469
ExpressionAtlasiQ96JG9 baseline and differential
GenevisibleiQ96JG9 HS

Family and domain databases

InterProiView protein in InterPro
IPR039270 ZNF469
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PANTHERiPTHR21465 PTHR21465, 1 hit
PfamiView protein in Pfam
PF00096 zf-C2H2, 1 hit
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 8 hits
SUPFAMiSSF57667 SSF57667, 1 hit
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 6 hits
PS50157 ZINC_FINGER_C2H2_2, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiZN469_HUMAN
AccessioniPrimary (citable) accession number: Q96JG9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 24, 2003
Last sequence update: July 24, 2007
Last modified: November 7, 2018
This is version 134 of the entry and version 3 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 chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again