SP140L: SP140 Nuclear Body Protein Like
A gene encoding a nuclear body protein with potential roles in transcriptional regulation and immune function.
Gene Information Card
| Symbol | SP140L |
|---|---|
| Full Name | SP140 Nuclear Body Protein Like |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 93349 ncbi.nlm.nih.gov/gene/93349 |
| Ensembl ID | ENSG00000162931 |
| UniProt ID | Q9H930 |
| OMIM ID | 618188 |
| HGNC ID | 30649 |
| Aliases | SP140-like, dJ473J16.2 |
Description
SP140L (SP140 Nuclear Body Protein Like) is a protein-coding gene located on chromosome 2q37.1. It encodes a protein that belongs to the SP100/SP140 family of nuclear body components, which are involved in transcriptional regulation and immune responses. The protein contains a SAND domain and a plant homeodomain (PHD) finger, suggesting a role in chromatin binding and gene expression. SP140L is expressed in various tissues, particularly in immune cells, and may be associated with autoimmune and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Crohn's disease | Potential involvement in immune regulation; variants may alter nuclear body function | GWAS association (PMID: 26192919) |
| Ulcerative colitis | Similar to Crohn's; SP140L variants linked to inflammatory bowel disease risk | GWAS (PMID: 26192919) |
| Systemic lupus erythematosus | Possible role in autoimmunity via nuclear body dysfunction | Candidate gene studies (PMID: 23143596) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Whole blood | 8.2 | Low |
| Lung | 6.1 | Low |
| Small intestine | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.2 | Leukemia cell line |
| HEK 293 | 3.4 | Embryonic kidney |
| HeLa | 2.1 | Cervical carcinoma |
| HepG2 | 1.8 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11536889 | SNP (intronic) | 0.15 (global) | Associated with inflammatory bowel disease risk |
| rs11168293 | SNP (intronic) | 0.12 (European) | Potential regulatory effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005634 (GO:0005634) | • GO:0003677 (GO:0003677) |
| • GO:0046982 (GO:0046982) | • GO:0005515 (GO:0005515) |
Pathways
• Nuclear body signaling
• Transcriptional regulation by SP100/SP140 family
Protein Summary
The SP140L protein is a nuclear body component containing a SAND domain and a PHD finger, suggesting roles in chromatin binding and transcriptional regulation. It is expressed predominantly in immune tissues and may modulate gene expression in response to inflammatory signals. Structural similarity to SP100 and SP140 proteins indicates involvement in nuclear body assembly and immune-related pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SP140L Knockout HEK293 Cell Line | EDJ-KQ10541 | Human | 93349 | Details Get a Quote |
| SP140L Knockout A-549 Cell Line | EDJ-KQ39301 | Human | 93349 | Details Get a Quote |
| SP140L Knockout HCT 116 Cell Line | EDJ-KQ39302 | Human | 93349 | Details Get a Quote |
| SP140L Knockout HeLa Cell Line | EDJ-KQ39303 | Human | 93349 | Details Get a Quote |
