ABLIM2 Gene - Actin Binding LIM Protein Family Member 2
Comprehensive genomic and proteomic overview of ABLIM2, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | ABLIM2 |
|---|---|
| Full Name | Actin Binding LIM Protein Family Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 84448 ncbi.nlm.nih.gov/gene/84448 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q6H8Q1 |
| OMIM ID | 616891 |
| HGNC ID | 19195 |
| Aliases | KIAA1808, LIMAB2, ABLIM-2 |
Description
ABLIM2 (Actin Binding LIM Protein Family Member 2) is a protein-coding gene located on chromosome 4p16.1. It encodes a member of the actin-binding LIM protein family, characterized by N-terminal LIM domains and a C-terminal villin headpiece domain. The protein is involved in actin cytoskeleton organization, cell adhesion, and migration. ABLIM2 is expressed in various tissues, with notable levels in the brain, heart, and skeletal muscle. Mutations and altered expression have been implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered ABLIM2 expression may affect actin dynamics and cell migration, contributing to tumor progression. | COSMIC; PMID: 23535731 |
| Breast Cancer | ABLIM2 downregulation is associated with poor prognosis and metastasis. | NCBI Gene; PMID: 25691885 |
| Autism Spectrum Disorder | Rare variants in ABLIM2 have been identified in ASD cohorts, suggesting a role in neurodevelopment. | ClinVar; PMID: 27569545 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 15.3 | Medium |
| Skeletal Muscle | 18.7 | High |
| Lung | 6.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.4 | Cervical cancer cell line |
| HEK293 | 10.1 | Embryonic kidney cell line |
| SH-SY5Y | 14.2 | Neuroblastoma cell line |
| MCF7 | 5.6 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; predicted to cause nonsense-mediated decay |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function; truncation of LIM domains |
| c.890A>G (p.Asn297Ser) | Missense | 0.2% | Unknown; located in LIM domain, may affect protein binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to premature stop codons and loss of full-length protein, impairing actin binding and cytoskeletal regulation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ABLIM2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ABLIM2.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003779 - actin binding | • GO:0005515 - protein binding |
| • GO:0005737 - cytoplasm | • GO:0005856 - cytoskeleton |
| • GO:0030036 - actin cytoskeleton organization | • GO:0042802 - identical protein binding |
Pathways
• Actin cytoskeleton regulation (Reactome: R-HSA-5663205)
• Cell adhesion and migration (KEGG: hsa04510)
Protein Summary
ABLIM2 encodes a 731-amino acid protein with three N-terminal LIM domains (zinc-binding motifs involved in protein-protein interactions) and a C-terminal villin headpiece domain that binds actin. The protein localizes to the cytoplasm and cytoskeleton, where it regulates actin filament bundling and cell shape. ABLIM2 is expressed in brain, heart, and skeletal muscle, and its dysregulation is linked to cancer and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABLIM2 Knockout HEK293 Cell Line | EDJ-KQ10088 | Human | 84448 | Details Get a Quote |
| ABLIM2 Knockout HCT 116 Cell Line | EDJ-KQ35930 | Human | 84448 | Details Get a Quote |
| ABLIM2 Knockout HeLa Cell Line | EDJ-KQ37160 | Human | 84448 | Details Get a Quote |
| ABLIM2 Knockout A-549 Cell Line | EDJ-KQ66093 | Human | 84448 | Details Get a Quote |
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