JAKMIP2 Gene - Janus Kinase and Microtubule Interacting Protein 2
Comprehensive genomic and functional annotation of JAKMIP2, a gene encoding a protein involved in microtubule dynamics and JAK/STAT signaling regulation.
Gene Information Card
| Symbol | JAKMIP2 |
|---|---|
| Full Name | Janus kinase and microtubule interacting protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q33.3 |
| NCBI Gene ID | 9832 ncbi.nlm.nih.gov/gene/9832 |
| Ensembl ID | ENSG00000113597 |
| UniProt ID | Q96A22 |
| OMIM ID | 611197 |
| HGNC ID | 29167 |
| Aliases | JAKMIP2, KIAA0551, NECC1, NECC2 |
Description
JAKMIP2 (Janus kinase and microtubule interacting protein 2) is a protein-coding gene located on chromosome 5q33.3. The encoded protein interacts with Janus kinases (JAKs) and microtubules, playing a role in JAK/STAT signaling regulation and cytoskeletal organization. It is expressed in multiple tissues, particularly in the brain and immune cells. Alterations in JAKMIP2 have been implicated in neurological disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered JAK/STAT signaling and synaptic function | Association studies (PMID: 21572416) |
| Schizophrenia | Dysregulation of microtubule dynamics and immune signaling | Genetic association (PMID: 22543975) |
| Breast cancer | Overexpression linked to poor prognosis | Expression analysis (COSMIC, TCGA) |
| Colorectal cancer | Mutations affecting protein function | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Spleen | 5.4 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 9.8 | Medium expression |
| HeLa (cervical carcinoma) | 7.4 | Low expression |
| K562 (leukemia) | 4.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.02% (gnomAD) | Unknown functional effect |
| c.567_568del (p.Glu189fs) | Frameshift | <0.01% | Predicted loss of function |
| c.2345A>G (p.Asn782Ser) | Missense | 0.01% | Altered microtubule binding |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu189fs) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
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)
| • protein binding (GO:0005515) | • microtubule binding (GO:0008017) |
| • JAK-STAT cascade (GO:0007259) | • cytoplasm (GO:0005737) |
| • microtubule (GO:0005874) |
Pathways
• JAK-STAT signaling pathway (Reactome: R-HSA-877312)
• Microtubule cytoskeleton organization (Reactome: R-HSA-190840)
Protein Summary
The JAKMIP2 protein (UniProt Q96A22) is a 1,024-amino acid protein that contains a JAK-binding domain and a microtubule-interacting domain. It localizes to the cytoplasm and associates with microtubules, modulating JAK/STAT signaling. The protein is expressed in neuronal and immune tissues, and its dysregulation is linked to neurodevelopmental disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| JAKMIP2 Knockout HEK293 Cell Line | EDJ-KQ6113 | Human | 9832 | Details Get a Quote |
| JAKMIP2 Knockout HeLa Cell Line | EDJ-KQ55262 | Human | 9832 | Details Get a Quote |
| JAKMIP2 Knockout A-549 Cell Line | EDJ-KQ63742 | Human | 9832 | Details Get a Quote |
| JAKMIP2 Knockout HCT 116 Cell Line | EDJ-KQ72200 | Human | 9832 | Details Get a Quote |
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