TNFAIP8L2-SCNM1: A Readthrough Gene Fusion at the TNFAIP8L2/SCNM1 Locus
Comprehensive genomic, expression, and disease association profile of the TNFAIP8L2-SCNM1 readthrough transcript, integrating data from NCBI, Ensembl, UniProt, OMIM, HGNC, COSMIC, and ClinVar.
Gene Information Card
| Symbol | TNFAIP8L2-SCNM1 |
|---|---|
| Full Name | TNFAIP8L2-SCNM1 readthrough (NMD candidate) |
| Gene Type | Readthrough (fusion of TNFAIP8L2 and SCNM1) |
| Chromosomal Location | 1q21.3 (based on TNFAIP8L2 and SCNM1 locations) |
| NCBI Gene ID | 0 ncbi.nlm.nih.gov/gene/0 |
| Ensembl ID | ENSG00000259001 (TNFAIP8L2-SCNM1) |
| UniProt ID | Not applicable (no protein product; NMD candidate) |
| OMIM ID | Not assigned (readthrough locus) |
| HGNC ID | HGNC:48677 (TNFAIP8L2-SCNM1) |
| Aliases | TNFAIP8L2-SCNM1 readthrough; TNFAIP8L2/SCNM1 fusion |
Description
TNFAIP8L2-SCNM1 is a readthrough gene located on chromosome 1q21.3, formed by the natural fusion of the TNFAIP8L2 (TNF alpha induced protein 8 like 2) and SCNM1 (sodium channel modifier 1) genes. This readthrough transcript is classified as a nonsense-mediated decay (NMD) candidate, meaning it is likely degraded and does not produce a functional protein. The locus is part of a complex genomic region with multiple overlapping transcripts. TNFAIP8L2 is involved in immune regulation and apoptosis, while SCNM1 is implicated in RNA splicing. The readthrough may serve regulatory roles, potentially affecting the expression of its parent genes. Data from NCBI and Ensembl confirm the existence of this readthrough transcript, but no protein product is annotated in UniProt.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential dysregulation of TNFAIP8L2 and SCNM1 expression; readthrough may affect their regulatory networks. TNFAIP8L2 is known to be involved in apoptosis and immune response, and its altered expression has been linked to tumorigenesis. | COSMIC: TNFAIP8L2 and SCNM1 are listed as genes with mutations in various cancers, but no specific disease association for the readthrough is documented. |
| Immunological disorders | TNFAIP8L2 is involved in immune signaling; readthrough may modulate its expression, potentially impacting inflammatory responses. | ClinVar: No direct clinical significance for the readthrough; TNFAIP8L2 variants are not curated for disease. |
| Neurological conditions | SCNM1 is involved in RNA splicing and has been studied in neuronal contexts; readthrough may influence splicing regulation. | OMIM: No entry for the readthrough; SCNM1 is not associated with a specific disease in OMIM. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available (readthrough not quantified separately) | Not determined |
| Lymph node | Not available | Not determined |
| Bone marrow | Not available | Not determined |
| Other tissues | Not available | Readthrough transcripts are typically lowly expressed and often tissue-specific; no data from Human Protein Atlas for this readthrough. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | No specific data for readthrough; parent genes may be expressed. |
| K562 | Not available | No specific data. |
| MCF7 | Not available | No specific data. |
| Other cell lines | Not available | Readthrough expression is not typically quantified in standard cell line datasets. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No specific variants curated for the readthrough | Not applicable | Not applicable | No mutations are documented in ClinVar or COSMIC for the TNFAIP8L2-SCNM1 readthrough locus. |
Mutation functional classification
Loss of Function (LOF)
Not applicable: no protein product; readthrough is NMD candidate, so loss-of-function is not defined.
Gain of Function (GOF)
Not applicable: no protein product; readthrough is NMD candidate, so gain-of-function is not defined.
Dominant Negative (DN)
Not applicable: no protein product; readthrough is NMD candidate, so dominant-negative effects are not defined.
View complete mutation data：
Gene Ontology (GO)
| • No GO terms are assigned to the readthrough gene; parent genes have GO terms: TNFAIP8L2 (e.g., negative regulation of apoptotic process, immune response) and SCNM1 (RNA splicing). |
Pathways
• No specific pathways are associated with the readthrough; parent genes are involved in: TNFAIP8L2 - TNF signaling
• apoptosis regulation; SCNM1 - mRNA splicing (spliceosome pathway).
Protein Summary
The TNFAIP8L2-SCNM1 readthrough transcript is predicted to undergo nonsense-mediated decay and therefore does not produce a stable protein product. UniProt does not list a protein for this locus. The readthrough may function as a regulatory RNA, potentially influencing the expression of its parent genes TNFAIP8L2 and SCNM1. TNFAIP8L2 encodes a protein involved in immune regulation and apoptosis, while SCNM1 encodes a protein involved in RNA splicing. The readthrough is part of a complex genomic region with multiple overlapping transcripts, and its biological significance remains to be fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TNFAIP8L2-SCNM1 Knockout HEK293 Cell Line | EDJ-KQ52510 | Human | 100534012 | Details Get a Quote |
| TNFAIP8L2-SCNM1 Knockout HeLa Cell Line | EDJ-KQ60975 | Human | 100534012 | Details Get a Quote |
| TNFAIP8L2-SCNM1 Knockout A-549 Cell Line | EDJ-KQ69450 | Human | 100534012 | Details Get a Quote |
| TNFAIP8L2-SCNM1 Knockout HCT 116 Cell Line | EDJ-KQ77801 | Human | 100534012 | Details Get a Quote |
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