CMIP Gene (C-Maf Inducing Protein)
Genetic and Functional Insights into CMIP
Gene Information Card
| Symbol | CMIP |
|---|---|
| Full Name | C-Maf inducing protein |
| Gene Type | protein-coding |
| Chromosomal Location | 16q23.2 |
| NCBI Gene ID | 80790 ncbi.nlm.nih.gov/gene/80790 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q8IY22 |
| OMIM ID | 610112 |
| HGNC ID | 24312 |
| Aliases | KIAA1693, MGC138290, MGC138291 |
Description
The CMIP gene encodes the C-Maf inducing protein, which is involved in transcriptional regulation and T-cell signaling. It is implicated in the pathogenesis of minimal change nephrotic syndrome and other immune-related disorders. The protein interacts with the transcription factor c-Maf and modulates cytokine expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Minimal change nephrotic syndrome (MCNS) | Altered T-cell signaling and podocyte dysfunction | Association studies and functional analyses (OMIM #610112) |
| Focal segmental glomerulosclerosis (FSGS) | Potential role in podocyte injury | Genetic association studies (ClinVar) |
| Autoimmune diseases | Modulation of IL-2 and other cytokines | Experimental evidence (UniProt) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 2.1 | Low |
| Lymph node | 4.5 | Medium |
| Spleen | 3.8 | Medium |
| Whole blood | 1.2 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.0 | Moderate expression |
| Jurkat | 5.2 | High expression in T-cells |
| HepG2 | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42Cys) | Missense | <0.01% | Unknown functional effect (ClinVar) |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Possibly damaging (COSMIC) |
| c.789_790del (p.Glu264fs) | Frameshift | <0.01% | Loss of function (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu264fs) likely lead to truncated protein and loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established for CMIP.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • positive regulation of transcription by RNA polymerase II (GO:0045944) |
Pathways
• T-cell receptor signaling pathway (Reactome)
• Cytokine-cytokine receptor interaction (KEGG)
Protein Summary
The C-Maf inducing protein (CMIP) is a 726-amino acid nuclear protein that modulates transcription factor activity, particularly c-Maf. It is expressed in lymphoid tissues and kidney, and its dysregulation is linked to nephrotic syndrome and immune dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CMIP Knockout HEK293 Cell Line | EDJ-KQ9577 | Human | 80790 | Details Get a Quote |
| CMIP Knockout A-549 Cell Line | EDJ-KQ35132 | Human | 80790 | Details Get a Quote |
| CMIP Knockout HCT 116 Cell Line | EDJ-KQ36393 | Human | 80790 | Details Get a Quote |
| CMIP Knockout HeLa Cell Line | EDJ-KQ36394 | Human | 80790 | Details Get a Quote |
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