HNRNPCL2 Gene - Heterogeneous Nuclear Ribonucleoprotein C Like 2

Complete gene guide for HNRNPCL2: location, function, expression, and clinical significance.

Gene Information Card

Symbol HNRNPCL2
Full Name heterogeneous nuclear ribonucleoprotein C like 2
Gene Type gene with protein product
Chromosomal Location 1p36.21
NCBI Gene ID 440563 ncbi.nlm.nih.gov/gene/440563
Ensembl ID ENSG00000275774
UniProt ID B2RXH8
OMIM ID Not available
HGNC ID HGNC:48813
Aliases HNRNPCP5

Description

HNRNPCL2 (heterogeneous nuclear ribonucleoprotein C like 2) is a gene located on chromosome 1p36.21. It encodes a protein that shares similarity with heterogeneous nuclear ribonucleoprotein C (HNRNPC), which is involved in pre-mRNA processing. The gene is considered a member of the HNRNPC-like family, though its specific functions are not fully characterized. It is expressed in various tissues, with notable expression in the testis and certain brain regions. The protein is predicted to localize to the nucleus and may participate in RNA binding and processing. Further research is needed to elucidate its precise biological roles and potential implications in disease.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Not established No direct disease association has been reported for HNRNPCL2. No evidence from ClinVar or OMIM.

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.3 Medium
Brain 8.7 Low
Lung 5.2 Low
Kidney 4.1 Low
Liver 3.0 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 15.2 High expression
K562 8.9 Moderate expression
A549 6.3 Low expression
MCF7 4.5 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
No known pathogenic variants Not applicable Not reported Not applicable
Mutation functional classification

Loss of Function (LOF)

No loss-of-function mutations have been characterized for HNRNPCL2.

Gain of Function (GOF)

No gain-of-function mutations have been characterized for HNRNPCL2.

Dominant Negative (DN)

No dominant-negative mutations have been characterized for HNRNPCL2.

Gene Ontology (GO)

• RNA binding • nucleic acid binding
• nucleus • ribonucleoprotein complex

Pathways

• mRNA processing
• RNA splicing

Protein Summary

The HNRNPCL2 protein is predicted to be a heterogeneous nuclear ribonucleoprotein C-like protein. It contains RNA recognition motifs and is likely involved in RNA binding and processing. The protein is localized to the nucleus and may participate in pre-mRNA splicing and other aspects of RNA metabolism. Its exact function remains to be determined, but it may play a role in gene expression regulation.

Related Products

Product name Cat.No. Species Gene ID
HNRNPCL2 Knockout HEK293 Cell Line EDJ-KQ13767 Human 440563 Details Get a Quote
HNRNPCL2 Knockout HeLa Cell Line EDJ-KQ60396 Human 440563 Details Get a Quote
HNRNPCL2 Knockout A-549 Cell Line EDJ-KQ68864 Human 440563 Details Get a Quote
HNRNPCL2 Knockout HCT 116 Cell Line EDJ-KQ77226 Human 440563 Details Get a Quote
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