SLFN5 Gene - Schlafen Family Member 5

A comprehensive resource on SLFN5, including genomic data, expression, mutations, and disease associations.

Gene Information Card

Symbol SLFN5
Full Name Schlafen family member 5
Gene Type Protein coding
Chromosomal Location 17q12
NCBI Gene ID 162394 ncbi.nlm.nih.gov/gene/162394
Ensembl ID ENSG00000187608
UniProt ID Q08AF3
OMIM ID 614538
HGNC ID 26287
Aliases SLFN5, Schlafen5, FLJ30656

Description

SLFN5 (Schlafen family member 5) is a protein-coding gene belonging to the Schlafen family, which is involved in cell growth regulation, immune response, and antiviral activity. The gene is located on chromosome 17q12 and encodes a protein that may play a role in inhibiting cell proliferation and modulating interferon signaling. SLFN5 has been implicated in various cancers and inflammatory conditions.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) SLFN5 expression is altered in multiple cancers, potentially affecting cell cycle and immune evasion. COSMIC, NCBI
Inflammatory bowel disease SLFN5 polymorphisms may influence susceptibility to Crohn's disease. OMIM, NCBI
Viral infections SLFN5 may restrict viral replication through interferon-related pathways. UniProt, NCBI

Expression Profile

Tissue Expression
Tissue nTPM level
Lung 12.5 Medium
Spleen 8.3 Medium
Kidney 6.1 Low
Liver 4.2 Low
Brain 2.8 Low
Cell Line Expression
Cell Line nTPM Notes
A549 (lung cancer) 15.0 High expression
HEK293 (embryonic kidney) 9.5 Moderate expression
HepG2 (liver cancer) 5.0 Low expression
K562 (leukemia) 3.2 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1000C>T (p.Arg334Trp) Missense <0.1% Unknown functional impact
c.1456G>A (p.Glu486Lys) Missense <0.1% Reported in COSMIC
c.789_790insA Frameshift <0.1% Likely loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift mutations (e.g., c.789_790insA) are predicted to cause loss of function.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No evidence of dominant-negative effects.

Gene Ontology (GO)

• DNA binding • ATP binding
• regulation of cell cycle • negative regulation of cell proliferation
• response to interferon-gamma

Pathways

• Interferon signaling
• Cell cycle regulation

Protein Summary

The SLFN5 protein is a member of the Schlafen family, characterized by an AAA domain and a nuclear localization signal. It is involved in DNA binding and ATP hydrolysis, and it negatively regulates cell proliferation. SLFN5 is induced by interferons and may contribute to antiviral responses and tumor suppression.

Related Products

Product name Cat.No. Species Gene ID
SLFN5 Knockout HEK293 Cell Line EDJ-KQ12149 Human 162394 Details Get a Quote
SLFN5 Knockout A-549 Cell Line EDJ-KQ40844 Human 162394 Details Get a Quote
SLFN5 Knockout HCT 116 Cell Line EDJ-KQ40845 Human 162394 Details Get a Quote
SLFN5 Knockout HeLa Cell Line EDJ-KQ40846 Human 162394 Details Get a Quote
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