RBM42: RNA Binding Motif Protein 42

A gene encoding an RNA-binding protein involved in transcriptional regulation and RNA processing, with potential roles in cancer and cellular stress responses.

Gene Information Card

Symbol RBM42
Full Name RNA Binding Motif Protein 42
Gene Type Protein coding
Chromosomal Location 19q13.12
NCBI Gene ID 79177 ncbi.nlm.nih.gov/gene/79177
Ensembl ID ENSG00000105639
UniProt ID Q9BTT4
OMIM ID 617260
HGNC ID 26199
Aliases FLJ10986, MGC13170

Description

RBM42 (RNA Binding Motif Protein 42) is a protein-coding gene located on chromosome 19q13.12. It encodes a member of the RNA-binding protein family, characterized by an RNA recognition motif (RRM). RBM42 is involved in RNA processing, transcriptional regulation, and may play a role in cellular stress responses. The protein interacts with transcription factors and splicing factors, influencing gene expression. RBM42 has been implicated in various cancers, including breast and colorectal cancer, where its expression is dysregulated.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast Cancer Dysregulated expression of RBM42 may alter RNA splicing and gene expression, promoting tumorigenesis. PubMed: 25691885
Colorectal Cancer RBM42 overexpression correlates with poor prognosis; may regulate cell proliferation and migration. PubMed: 28723891
Hepatocellular Carcinoma RBM42 is upregulated and associated with tumor progression; potential role in RNA metabolism. PubMed: 31019238

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Bone Marrow 8.3 Low
Lymph Node 7.1 Low
Brain 4.2 Not detected
Heart 3.8 Not detected
Cell Line Expression
Cell Line nTPM Notes
HeLa 15.2 Cervical cancer cell line
MCF7 11.8 Breast cancer cell line
HCT116 9.5 Colorectal cancer cell line
HEK293 7.3 Embryonic kidney cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.347G>A (p.Arg116Gln) Missense <0.01% Unknown functional impact; reported in COSMIC
c.523C>T (p.Arg175Trp) Missense <0.01% Potential loss of RNA binding; ClinVar uncertain significance
c.789_790insA (p.Glu264Argfs*12) Frameshift <0.01% Predicted loss of function; COSMIC
Mutation functional classification

Loss of Function (LOF)

Frameshift mutations (e.g., p.Glu264Argfs*12) likely result in truncated protein and loss of RNA-binding activity.

Gain of Function (GOF)

No evidence of gain-of-function mutations currently reported.

Dominant Negative (DN)

No known dominant-negative mutations described.

Pathways

• RNA splicing (Reactome: R-HSA-72163)
• Gene expression (Reactome: R-HSA-74160)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)

Protein Summary

RBM42 encodes a 364-amino acid protein with a single N-terminal RNA recognition motif (RRM). The protein localizes to the nucleus and cytoplasm, and is involved in RNA binding and processing. It interacts with splicing factors and transcription regulators, modulating alternative splicing and gene expression. RBM42 is expressed in multiple tissues, with highest levels in testis and bone marrow. Dysregulation of RBM42 is associated with cancer progression, particularly in breast and colorectal cancers.

Related Products

Product name Cat.No. Species Gene ID
RBM42 Knockout HEK293 Cell Line EDJ-KQ51669 Human 79171 Details Get a Quote
RBM42 Knockout HeLa Cell Line EDJ-KQ57153 Human 79171 Details Get a Quote
RBM42 Knockout A-549 Cell Line EDJ-KQ65666 Human 79171 Details Get a Quote
RBM42 Knockout HCT 116 Cell Line EDJ-KQ74090 Human 79171 Details Get a Quote
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