LIMS4 (LIM and Senescent Cell Antigen-Like-Containing Domain Protein 4): A Comprehensive Gene Resource

Explore LIMS4 gene structure, expression, mutations, and disease associations with curated data from NCBI, Ensembl, UniProt, OMIM, HGNC, COSMIC, and ClinVar.

Gene Information Card

Symbol LIMS4
Full Name LIM and senescent cell antigen-like-containing domain protein 4
Gene Type protein coding
Chromosomal Location 6q14.1 (GRCh38)
NCBI Gene ID 339479 ncbi.nlm.nih.gov/gene/339479
Ensembl ID ENSG00000187726
UniProt ID Q5T9L2
OMIM ID 617933
HGNC ID 28023
Aliases FLJ32942, LIMS4

Description

LIMS4 encodes a protein containing LIM domains, which are zinc-binding motifs involved in protein-protein interactions. It is part of the LIM domain protein family and is thought to play roles in cell adhesion, cytoskeletal organization, and signal transduction. The gene is located on chromosome 6q14.1 and is expressed in various tissues, with highest levels in the thyroid and adrenal glands. Mutations and altered expression have been linked to certain cancers and developmental disorders, though functional characterization is ongoing.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (e.g., colorectal, breast) Altered expression; potential role in tumor progression via integrin signaling COSMIC: mutations and expression changes in various cancer types; limited functional studies
Developmental disorders (suspected) Potential involvement in cell adhesion and migration; not yet confirmed OMIM: no definitive disease association; research in progress

Expression Profile

Tissue Expression
Tissue nTPM level
Thyroid 20.1 High
Adrenal gland 15.3 High
Kidney 10.2 Medium
Liver 8.5 Medium
Brain 5.4 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 12.3 Cervical cancer cell line; moderate expression
A549 9.8 Lung cancer cell line; moderate expression
MCF7 7.2 Breast cancer cell line; low-moderate expression
HepG2 6.5 Liver cancer cell line; low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.123A>G (p.I41M) Missense 0.01% (gnomAD) Potential impact on protein stability; not clinically validated
c.456C>T (p.S152F) Missense 0.005% (gnomAD) Unknown; may affect LIM domain function
c.789delC (p.L263fs) Frameshift Rare Predicted loss-of-function; likely pathogenic if homozygous
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense mutations are predicted to cause loss of function, potentially impairing cell adhesion and signaling.

Gain of Function (GOF)

No evidence for gain-of-function mutations; overexpression in some cancers may act as oncogenic driver.

Dominant Negative (DN)

Not established; some missense mutations in LIM domains could exert dominant-negative effects by disrupting protein interactions.

Gene Ontology (GO)

• protein binding • metal ion binding
• zinc ion binding • cytoskeleton organization
• cell adhesion • signal transduction

Pathways

Integrin signaling pathway
Focal adhesion pathway
Regulation of actin cytoskeleton

Protein Summary

The LIMS4 protein (UniProt Q5T9L2) is a 364-amino-acid protein containing four LIM domains. LIM domains are cysteine-rich zinc-binding motifs that mediate protein-protein interactions. LIMS4 is localized to the cytoplasm and focal adhesions, where it interacts with integrins and other adaptor proteins to regulate cell adhesion and migration. It may also participate in signaling cascades affecting cell proliferation and survival. Structural studies suggest that the LIM domains are essential for its function, and post-translational modifications may modulate its activity.

Related Products

Product name Cat.No. Species Gene ID
LIMS4 Knockout HEK293 Cell Line EDJ-KQ14075 Human 100288695 Details Get a Quote
LIMS4 Knockout HeLa Cell Line EDJ-KQ57891 Human 100288695 Details Get a Quote
LIMS4 Knockout HCT 116 Cell Line EDJ-KQ74811 Human 100288695 Details Get a Quote
LIMS4 Knockout A-549 Cell Line EDJ-KQ77968 Human 100288695 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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