NEMP2 (Nuclear Envelope Integral Membrane Protein 2)
A component of the nuclear envelope with roles in nuclear morphology and potential links to developmental disorders.
Gene Information Card
| Symbol | NEMP2 |
|---|---|
| Full Name | Nuclear Envelope Integral Membrane Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 123720 ncbi.nlm.nih.gov/gene/123720 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q5T1M5 |
| OMIM ID | 619511 |
| HGNC ID | 26426 |
| Aliases | C2orf60, NET51, TMEM194B |
Description
NEMP2 encodes a nuclear envelope integral membrane protein that is part of the NEMP (nuclear envelope integral membrane protein) complex. This complex is involved in maintaining nuclear envelope morphology and spacing. NEMP2 is widely expressed and has been implicated in early embryonic development and cell differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and structural brain anomalies | Loss-of-function variants in NEMP2 disrupt nuclear envelope integrity, leading to impaired neuronal development and microcephaly. | OMIM #619511; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.9 | Medium |
| Adrenal gland | 7.2 | Medium |
| Brain | 5.1 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.3 | Embryonic kidney cells |
| HeLa | 8.1 | Cervical cancer cells |
| K562 | 6.7 | Leukemia cells |
| HepG2 | 5.9 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.226C>T (p.Arg76*) | Nonsense | Rare | Premature stop, loss of function |
| c.487_488del (p.Leu163fs) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss variants are predicted to cause loss of function, leading to nuclear envelope defects.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • nuclear envelope (GO:0005635) | • integral component of membrane (GO:0016021) |
| • nuclear membrane organization (GO:0006997) |
Pathways
• Nuclear envelope organization
Protein Summary
NEMP2 is a 251-amino acid transmembrane protein localized to the inner nuclear membrane. It forms a complex with NEMP1 to regulate nuclear envelope spacing and morphology. The protein contains a conserved NEMP domain and is essential for proper nuclear architecture.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEMP2 Knockout HEK293 Cell Line | EDJ-KQ14411 | Human | 100131211 | Details Get a Quote |
| NEMP2 Knockout A-549 Cell Line | EDJ-KQ44608 | Human | 100131211 | Details Get a Quote |
| NEMP2 Knockout HCT 116 Cell Line | EDJ-KQ44609 | Human | 100131211 | Details Get a Quote |
| NEMP2 Knockout HeLa Cell Line | EDJ-KQ44610 | Human | 100131211 | Details Get a Quote |
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