HNRNPDL
Heterogeneous Nuclear Ribonucleoprotein D Like
Gene Information Card
| Symbol | HNRNPDL |
|---|---|
| Full Name | Heterogeneous Nuclear Ribonucleoprotein D Like |
| Gene Type | Protein coding |
| Chromosomal Location | 4q21.22 |
| NCBI Gene ID | 9982 ncbi.nlm.nih.gov/gene/9982 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | O14979 |
| OMIM ID | 607137 |
| HGNC ID | 5037 |
| Aliases | HNRPDL, JKTBP, hnRNPDL, LAUF1 |
Description
The HNRNPDL gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) family, specifically the D-like subfamily. This RNA-binding protein is involved in pre-mRNA processing, mRNA metabolism, and transport. It contains two RNA recognition motifs (RRMs) and a glycine-rich C-terminal domain. Mutations in HNRNPDL are associated with autosomal dominant limb-girdle muscular dystrophy type D3 (LGMD D3).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Limb-girdle muscular dystrophy D3 (LGMD D3) | Missense mutations in HNRNPDL (e.g., p.Asp378Asn, p.Pro390Leu) disrupt RNA binding and nuclear localization, leading to myofiber degeneration. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Brain | 8.7 | Medium |
| Liver | 6.3 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical adenocarcinoma |
| HEK293 | 14.8 | Embryonic kidney |
| K562 | 11.2 | Leukemia |
| HepG2 | 9.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1132G>A (p.Asp378Asn) | Missense | Rare | Dominant negative; impairs RNA binding and nuclear localization |
| c.1169C>T (p.Pro390Leu) | Missense | Rare | Dominant negative; disrupts protein stability and function |
Mutation functional classification
Loss of Function (LOF)
Not established; heterozygous loss-of-function variants are not clearly pathogenic.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations (e.g., p.Asp378Asn, p.Pro390Leu) act via dominant-negative mechanism, impairing wild-type HNRNPDL function.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA processing |
| • nucleic acid binding | • nuclear speck |
| • cytoplasm |
Pathways
• mRNA Splicing - Major Pathway
• Transport of Mature mRNA
Protein Summary
HNRNPDL is a 420-amino acid RNA-binding protein with two N-terminal RRM domains and a C-terminal glycine-rich region. It shuttles between nucleus and cytoplasm, participating in pre-mRNA splicing, mRNA stability, and transport. The protein is ubiquitously expressed, with highest levels in skeletal muscle and heart. Pathogenic missense mutations in the C-terminal domain cause LGMD D3 by disrupting RNA binding and nuclear localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HNRNPDL Knockout HEK293 Cell Line | EDJ-KQ6856 | Human | 9987 | Details Get a Quote |
| HNRNPDL Knockout HeLa Cell Line | EDJ-KQ30059 | Human | 9987 | Details Get a Quote |
| HNRNPDL Knockout A-549 Cell Line | EDJ-KQ31430 | Human | 9987 | Details Get a Quote |
| HNRNPDL Knockout HCT 116 Cell Line | EDJ-KQ31431 | Human | 9987 | Details Get a Quote |
