Entity Details

Primary name LIMS2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ7Z4I7
EntryNameLIMS2_HUMAN
FullNameLIM and senescent cell antigen-like-containing domain protein 2
TaxID9606
Evidenceevidence at protein level
Length341
SequenceStatuscomplete
DateCreated2006-12-12
DateModified2021-06-02

Ontological Relatives

GenesLIMS2

GO terms

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GOName
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0005925 focal adhesion
GO:0034329 cell junction assembly
GO:0043066 negative regulation of apoptotic process
GO:0045216 cell-cell junction organization
GO:0046872 metal ion binding
GO:0098609 cell-cell adhesion
GO:1900026 positive regulation of substrate adhesion-dependent cell spreading
GO:2000178 negative regulation of neural precursor cell proliferation
GO:2000346 negative regulation of hepatocyte proliferation
GO:2001046 positive regulation of integrin-mediated signaling pathway

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Nucleus

Domains

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DomainNameCategoryType
IPR001781 Zinc finger, LIM-typeDomainDomain
IPR017351 LIM and senescent cell antigen-like-containing domain protein 1-likeFamilyFamily

Diseases

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Disease IDSourceNameDescription
616827 OMIMMuscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue (MDRCMTT)An autosomal recessive muscular dystrophy characterized by childhood-onset of muscle weakness progressing to a severe quadriparesis. Additionally, patients have biventricular cardiac dysfunction due to dilated cardiomyopathy, and macroglossia with a small tip resulting in a triangular tongue. The disease may be caused by variants affecting the gene represented in this entry.