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Protein

Mothers against decapentaplegic homolog 6

Gene

SMAD6

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

Functioni

Acts as a mediator of TGF-beta and BMP antiflammatory activity. Suppresses IL1R-TLR signaling through its direct interaction with PEL1, preventing NF-kappa-B activation, nuclear transport and NF-kappa-B-mediated expression of proinflammatory genes. May block the BMP-SMAD1 signaling pathway by competing with SMAD4 for receptor-activated SMAD1-binding. Binds to regulatory elements in target promoter regions.3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi205ZincBy similarity1
Metal bindingi247ZincBy similarity1
Metal bindingi260ZincBy similarity1
Metal bindingi265ZincBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-201451 Signaling by BMP
R-HSA-8941326 RUNX2 regulates bone development
SignaLinkiO43541
SIGNORiO43541

Names & Taxonomyi

Protein namesi
Recommended name:
Mothers against decapentaplegic homolog 6
Short name:
MAD homolog 6
Short name:
Mothers against DPP homolog 6
Alternative name(s):
SMAD family member 6
Short name:
SMAD 6
Short name:
Smad6
Short name:
hSMAD6
Gene namesi
Name:SMAD6
Synonyms:MADH6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000137834.14
HGNCiHGNC:6772 SMAD6
MIMi602931 gene
neXtProtiNX_O43541

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

Aortic valve disease 2 (AOVD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. SMAD6 variants may contribute to increased risk of congenital cardiovascular malformations (CVM). CVM is a major cause of mortality and morbidity in childhood. In most sporadic cases that cannot be attributed to particular malformation syndromes or teratogenic exposures, there remains a substantial excess familial risk, indicating a significant genetic contribution to disease susceptibility (PubMed:22275001).1 Publication
Disease descriptionA common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome.
See also OMIM:614823
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068075415P → L in AOVD2; results in significantly lower activity than wild-type in inhibiting BMP signaling in a transcriptional reporter assay. 1 PublicationCorresponds to variant dbSNP:rs387907284EnsemblClinVar.1
Natural variantiVAR_068076484C → F in AOVD2; results in significantly lower activity than wild-type in inhibiting BMP signaling in a transcriptional reporter assay. 1 PublicationCorresponds to variant dbSNP:rs387907283EnsemblClinVar.1
Craniosynostosis 7 (CRS7)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry. Rare heterozygous SMAD6 variants are strongly associated with non-syndromic midline craniosynostosis and confer a very high risk for disease development, in the presence of a common risk allele (rs1884302) near the BMP2 locus.1 Publication
Disease descriptionA form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
See also OMIM:617439
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078924223 – 496Missing in CRS7; associated with disease susceptibility. 1 PublicationAdd BLAST274
Natural variantiVAR_078925287E → K in CRS7; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs570279865Ensembl.1
Natural variantiVAR_077592306T → A in CRS7; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_077593323P → L in CRS7; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_078926374 – 496Missing in CRS7; associated with disease susceptibility. 1 PublicationAdd BLAST123
Natural variantiVAR_077594390G → C in CRS7; associated with disease susceptibility; de novo mutation. 1 Publication1
Natural variantiVAR_078927407 – 496Missing in CRS7; associated with disease susceptibility. 1 PublicationAdd BLAST90
Natural variantiVAR_077595465R → C in CRS7; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs761888345EnsemblClinVar.1
Natural variantiVAR_078928490I → T in CRS7; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs1338294058Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi173K → R: Abolishes monoubiquitination by UBE2O. 1 Publication1
Mutagenesisi435S → A: Loss of in vitro phosphorylation by PRKX. 1 Publication1
Mutagenesisi471G → S: Loss of SMAD1-binding and of inhibition of BMP-SMAD1 signaling. No effect on interaction with BMPR1B and TGFBR1. 1 Publication1
Mutagenesisi478 – 496Missing : Loss of interaction with BMPR1B, TGFBR1 and SMAD1. 1 PublicationAdd BLAST19

Keywords - Diseasei

Craniosynostosis, Disease mutation

Organism-specific databases

DisGeNETi4091
MalaCardsiSMAD6
MIMi614823 phenotype
617439 phenotype
OpenTargetsiENSG00000137834
Orphaneti402075 Familial bicuspid aortic valve
PharmGKBiPA30529

Polymorphism and mutation databases

BioMutaiSMAD6

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000908691 – 496Mothers against decapentaplegic homolog 6Add BLAST496

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei75Dimethylated arginine; alternateBy similarity1
Modified residuei75Omega-N-methylarginine; alternateBy similarity1
Modified residuei82Dimethylated arginine; alternateBy similarity1
Modified residuei82Omega-N-methylarginine; alternateBy similarity1
Cross-linki173Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Modified residuei435Phosphoserine; by PRKX; in vitroPROSITE-ProRule annotation1 Publication1

Post-translational modificationi

Phosphorylated by BMP type 1 receptor kinase and by PRKX.1 Publication
Monoubiquitinated at Lys-173 by the E2/E3 hybrid ubiquitin-protein ligase UBE2O, leading to reduced binding affinity for the activated BMP type I receptor ACVR1/ALK2, thereby enhancing BMP7 and regulating adipocyte differentiation (PubMed:23455153). Ubiquitinated by WWP1 (By similarity). Ubiquitinated by RNF165, promoting proteasomal degradation, leading to enhance the BMP-Smad signaling (By similarity).By similarity1 Publication
Arginine methylation by PRMT1, which is recruited by BMPR2, initiates BMP-Induced signaling and induces dissociation from the BMPR1B receptor at the cell surface leading to derepress downstream Smad1/Smad5 signaling.By similarity

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiO43541
PaxDbiO43541
PeptideAtlasiO43541
PRIDEiO43541
ProteomicsDBi49038
49039 [O43541-2]
49040 [O43541-4]

PTM databases

iPTMnetiO43541
PhosphoSitePlusiO43541

Expressioni

Tissue specificityi

Ubiquitous in various organs, with higher levels in lung. Isoform B is up-regulated in diseased heart tissue.

Gene expression databases

BgeeiENSG00000137834 Expressed in 213 organ(s), highest expression level in upper lobe of lung
CleanExiHS_SMAD6
ExpressionAtlasiO43541 baseline and differential
GenevisibleiO43541 HS

Organism-specific databases

HPAiHPA061917

Interactioni

Subunit structurei

Interacts with NEDD4L (By similarity). Interacts with WWP1 (By similarity). Interacts with STAMBP and PRKX. Interacts with RNF111 and AXIN1. Interacts with TGF-beta type I receptor superfamily members, including ACVR1B, BMPR1B and TGFBR1. In response to BMP2, but not to TGFB treatment, interacts with SMAD1, but not with SMAD2, nor with SMAD4; this interaction may inhibit SMAD1 binding to SMAD4. Interacts with HOXC8 and HOXC9. Interacts with PELI1; this interaction interferes with PELI1 complex formation with TRAF6, IRAK1, IRAK4 and MYD88 in response to IL1B and hence negatively regulates IL1R-TLR signaling.By similarity7 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110266, 47 interactors
CORUMiO43541
DIPiDIP-36708N
IntActiO43541, 12 interactors
MINTiO43541
STRINGi9606.ENSP00000288840

Structurei

3D structure databases

ProteinModelPortaliO43541
SMRiO43541
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini148 – 275MH1PROSITE-ProRule annotationAdd BLAST128
Domaini331 – 496MH2PROSITE-ProRule annotationAdd BLAST166

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi25 – 33Poly-Gly9
Compositional biasi82 – 85Poly-Arg4
Compositional biasi165 – 168Poly-Leu4
Compositional biasi251 – 254Poly-Ala4
Compositional biasi275 – 278Poly-Pro4

Sequence similaritiesi

Belongs to the dwarfin/SMAD family.Curated

Phylogenomic databases

eggNOGiKOG3701 Eukaryota
ENOG410XQKU LUCA
GeneTreeiENSGT00760000119091
HOVERGENiHBG053021
InParanoidiO43541
KOiK04677
OMAiCRTVTCC
OrthoDBiEOG091G0XBN
PhylomeDBiO43541
TreeFamiTF314923

Family and domain databases

Gene3Di2.60.200.10, 1 hit
3.90.520.10, 1 hit
InterProiView protein in InterPro
IPR013790 Dwarfin
IPR003619 MAD_homology1_Dwarfin-type
IPR013019 MAD_homology_MH1
IPR017855 SMAD-like_dom_sf
IPR001132 SMAD_dom_Dwarfin-type
IPR008984 SMAD_FHA_dom_sf
IPR036578 SMAD_MH1_sf
PANTHERiPTHR13703 PTHR13703, 1 hit
PfamiView protein in Pfam
PF03165 MH1, 1 hit
PF03166 MH2, 1 hit
SMARTiView protein in SMART
SM00523 DWA, 1 hit
SM00524 DWB, 1 hit
SUPFAMiSSF49879 SSF49879, 1 hit
SSF56366 SSF56366, 1 hit
PROSITEiView protein in PROSITE
PS51075 MH1, 1 hit
PS51076 MH2, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: O43541-1) [UniParc]FASTAAdd to basket

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
MFRSKRSGLV RRLWRSRVVP DREEGGSGGG GGGDEDGSLG SRAEPAPRAR
60 70 80 90 100
EGGGCGRSEV RPVAPRRPRD AVGQRGAQGA GRRRRAGGPP RPMSEPGAGA
110 120 130 140 150
GSSLLDVAEP GGPGWLPESD CETVTCCLFS ERDAAGAPRD ASDPLAGAAL
160 170 180 190 200
EPAGGGRSRE ARSRLLLLEQ ELKTVTYSLL KRLKERSLDT LLEAVESRGG
210 220 230 240 250
VPGGCVLVPR ADLRLGGQPA PPQLLLGRLF RWPDLQHAVE LKPLCGCHSF
260 270 280 290 300
AAAADGPTVC CNPYHFSRLC GPESPPPPYS RLSPRDEYKP LDLSDSTLSY
310 320 330 340 350
TETEATNSLI TAPGEFSDAS MSPDATKPSH WCSVAYWEHR TRVGRLYAVY
360 370 380 390 400
DQAVSIFYDL PQGSGFCLGQ LNLEQRSESV RRTRSKIGFG ILLSKEPDGV
410 420 430 440 450
WAYNRGEHPI FVNSPTLDAP GGRALVVRKV PPGYSIKVFD FERSGLQHAP
460 470 480 490
EPDAADGPYD PNSVRISFAK GWGPCYSRQF ITSCPCWLEI LLNNPR
Length:496
Mass (Da):53,497
Last modified:October 3, 2006 - v2
Checksum:iA4B928AE2D34EBC2
GO
Isoform B (identifier: O43541-2) [UniParc]FASTAAdd to basket
Also known as: Smad 6S

The sequence of this isoform differs from the canonical sequence as follows:
     1-261: Missing.
     262-273: NPYHFSRLCGPE → MSRMGKPIETQK

Show »
Length:235
Mass (Da):26,236
Checksum:i0847C2C84DC0B2A2
GO
Isoform D (identifier: O43541-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     318-338: DASMSPDATKPSHWCSVAYWE → AADAGIGSRGNRGLESSVPCS
     339-496: Missing.

Show »
Length:338
Mass (Da):35,467
Checksum:iC4D02353D7FD76CE
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YM33H0YM33_HUMAN
Mothers against decapentaplegic hom...
SMAD6
62Annotation score:
H0YK80H0YK80_HUMAN
Mothers against decapentaplegic hom...
SMAD6
55Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti21D → N in AAB94137 (PubMed:9436979).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078924223 – 496Missing in CRS7; associated with disease susceptibility. 1 PublicationAdd BLAST274
Natural variantiVAR_078925287E → K in CRS7; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs570279865Ensembl.1
Natural variantiVAR_077592306T → A in CRS7; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_077593323P → L in CRS7; associated with disease susceptibility. 1 Publication1
Natural variantiVAR_068074325A → T Found in a patient with congenital mitral valve prolapse. 1 PublicationCorresponds to variant dbSNP:rs199822239EnsemblClinVar.1
Natural variantiVAR_078926374 – 496Missing in CRS7; associated with disease susceptibility. 1 PublicationAdd BLAST123
Natural variantiVAR_077594390G → C in CRS7; associated with disease susceptibility; de novo mutation. 1 Publication1
Natural variantiVAR_078927407 – 496Missing in CRS7; associated with disease susceptibility. 1 PublicationAdd BLAST90
Natural variantiVAR_068075415P → L in AOVD2; results in significantly lower activity than wild-type in inhibiting BMP signaling in a transcriptional reporter assay. 1 PublicationCorresponds to variant dbSNP:rs387907284EnsemblClinVar.1
Natural variantiVAR_077595465R → C in CRS7; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs761888345EnsemblClinVar.1
Natural variantiVAR_068076484C → F in AOVD2; results in significantly lower activity than wild-type in inhibiting BMP signaling in a transcriptional reporter assay. 1 PublicationCorresponds to variant dbSNP:rs387907283EnsemblClinVar.1
Natural variantiVAR_078928490I → T in CRS7; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs1338294058Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0061791 – 261Missing in isoform B. 1 PublicationAdd BLAST261
Alternative sequenceiVSP_006180262 – 273NPYHF…LCGPE → MSRMGKPIETQK in isoform B. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_035489318 – 338DASMS…VAYWE → AADAGIGSRGNRGLESSVPC S in isoform D. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_035490339 – 496Missing in isoform D. 1 PublicationAdd BLAST158

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U59914 mRNA Translation: AAC50792.1
AF035528 mRNA Translation: AAB94137.1
AF043640 mRNA Translation: AAC00497.1
AF037469 mRNA Translation: AAC82331.1
AF041065
, AF041062, AF041063, AF041064 Genomic DNA Translation: AAF14343.1
AM909653 mRNA Translation: CAP20377.1
BC012986 mRNA Translation: AAH12986.1
AF101474 Genomic DNA Translation: AAF06841.1
CCDSiCCDS10221.1 [O43541-1]
RefSeqiNP_005576.3, NM_005585.4 [O43541-1]
XP_011519863.1, XM_011521561.2 [O43541-2]
UniGeneiHs.153863

Genome annotation databases

EnsembliENST00000288840; ENSP00000288840; ENSG00000137834 [O43541-1]
ENST00000557916; ENSP00000452955; ENSG00000137834 [O43541-4]
GeneIDi4091
KEGGihsa:4091
UCSCiuc002aqf.4 human [O43541-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U59914 mRNA Translation: AAC50792.1
AF035528 mRNA Translation: AAB94137.1
AF043640 mRNA Translation: AAC00497.1
AF037469 mRNA Translation: AAC82331.1
AF041065
, AF041062, AF041063, AF041064 Genomic DNA Translation: AAF14343.1
AM909653 mRNA Translation: CAP20377.1
BC012986 mRNA Translation: AAH12986.1
AF101474 Genomic DNA Translation: AAF06841.1
CCDSiCCDS10221.1 [O43541-1]
RefSeqiNP_005576.3, NM_005585.4 [O43541-1]
XP_011519863.1, XM_011521561.2 [O43541-2]
UniGeneiHs.153863

3D structure databases

ProteinModelPortaliO43541
SMRiO43541
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110266, 47 interactors
CORUMiO43541
DIPiDIP-36708N
IntActiO43541, 12 interactors
MINTiO43541
STRINGi9606.ENSP00000288840

PTM databases

iPTMnetiO43541
PhosphoSitePlusiO43541

Polymorphism and mutation databases

BioMutaiSMAD6

Proteomic databases

MaxQBiO43541
PaxDbiO43541
PeptideAtlasiO43541
PRIDEiO43541
ProteomicsDBi49038
49039 [O43541-2]
49040 [O43541-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000288840; ENSP00000288840; ENSG00000137834 [O43541-1]
ENST00000557916; ENSP00000452955; ENSG00000137834 [O43541-4]
GeneIDi4091
KEGGihsa:4091
UCSCiuc002aqf.4 human [O43541-1]

Organism-specific databases

CTDi4091
DisGeNETi4091
EuPathDBiHostDB:ENSG00000137834.14
GeneCardsiSMAD6
H-InvDBiHIX0132566
HGNCiHGNC:6772 SMAD6
HPAiHPA061917
MalaCardsiSMAD6
MIMi602931 gene
614823 phenotype
617439 phenotype
neXtProtiNX_O43541
OpenTargetsiENSG00000137834
Orphaneti402075 Familial bicuspid aortic valve
PharmGKBiPA30529
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3701 Eukaryota
ENOG410XQKU LUCA
GeneTreeiENSGT00760000119091
HOVERGENiHBG053021
InParanoidiO43541
KOiK04677
OMAiCRTVTCC
OrthoDBiEOG091G0XBN
PhylomeDBiO43541
TreeFamiTF314923

Enzyme and pathway databases

ReactomeiR-HSA-201451 Signaling by BMP
R-HSA-8941326 RUNX2 regulates bone development
SignaLinkiO43541
SIGNORiO43541

Miscellaneous databases

ChiTaRSiSMAD6 human
GeneWikiiMothers_against_decapentaplegic_homolog_6
GenomeRNAii4091
PROiPR:O43541
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000137834 Expressed in 213 organ(s), highest expression level in upper lobe of lung
CleanExiHS_SMAD6
ExpressionAtlasiO43541 baseline and differential
GenevisibleiO43541 HS

Family and domain databases

Gene3Di2.60.200.10, 1 hit
3.90.520.10, 1 hit
InterProiView protein in InterPro
IPR013790 Dwarfin
IPR003619 MAD_homology1_Dwarfin-type
IPR013019 MAD_homology_MH1
IPR017855 SMAD-like_dom_sf
IPR001132 SMAD_dom_Dwarfin-type
IPR008984 SMAD_FHA_dom_sf
IPR036578 SMAD_MH1_sf
PANTHERiPTHR13703 PTHR13703, 1 hit
PfamiView protein in Pfam
PF03165 MH1, 1 hit
PF03166 MH2, 1 hit
SMARTiView protein in SMART
SM00523 DWA, 1 hit
SM00524 DWB, 1 hit
SUPFAMiSSF49879 SSF49879, 1 hit
SSF56366 SSF56366, 1 hit
PROSITEiView protein in PROSITE
PS51075 MH1, 1 hit
PS51076 MH2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSMAD6_HUMAN
AccessioniPrimary (citable) accession number: O43541
Secondary accession number(s): A9J6M5
, O43654, Q15799, Q7Z7L4, Q96E31, Q9UKZ3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 4, 2001
Last sequence update: October 3, 2006
Last modified: November 7, 2018
This is version 179 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

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 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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