MB21D2
Mab-21 Domain Containing 2
Gene Information Card
| Symbol | MB21D2 |
|---|---|
| Full Name | Mab-21 domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 151963 ncbi.nlm.nih.gov/gene/151963 |
| Ensembl ID | ENSG00000163877 |
| UniProt ID | Q8N9N2 |
| OMIM ID | 617413 |
| HGNC ID | 26408 |
| Aliases | FLJ22184, MAB21L2 |
Description
MB21D2 (Mab-21 domain containing 2) is a protein-coding gene located on chromosome 3q29. The encoded protein contains a Mab-21 domain, which is conserved across species and implicated in developmental processes. MB21D2 is involved in cellular signaling and may play a role in cell proliferation and differentiation. Expression data indicate broad tissue distribution with highest levels in testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression; potential oncogenic role | NCBI Gene |
| Breast cancer | Upregulation observed in tumor samples | NCBI Gene |
| Developmental disorders | Mutations in MB21D2 associated with microcephaly and intellectual disability | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 5.1 | Low |
| Liver | 3.4 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.8 | Embryonic kidney |
| HeLa | 5.2 | Cervical carcinoma |
| K562 | 4.1 | Leukemia |
| HepG2 | 3.9 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Loss of function; associated with developmental delay |
| c.1012G>A (p.Gly338Arg) | Missense | <0.01% | Unknown; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Arg163Trp reduce protein stability and disrupt Mab-21 domain function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • metal ion binding (GO:0046872) |
Pathways
• Not assigned to any canonical pathway
Protein Summary
The MB21D2 protein (UniProt Q8N9N2) contains a conserved Mab-21 domain of unknown function. It is predicted to localize to the nucleus and cytoplasm and may participate in protein-protein interactions. Structural studies suggest it binds metal ions. The protein is expressed in multiple tissues, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MB21D2 Knockout HEK293 Cell Line | EDJ-KQ10679 | Human | 151963 | Details Get a Quote |
| MB21D2 Knockout A-549 Cell Line | EDJ-KQ39538 | Human | 151963 | Details Get a Quote |
| MB21D2 Knockout HCT 116 Cell Line | EDJ-KQ39539 | Human | 151963 | Details Get a Quote |
| MB21D2 Knockout HeLa Cell Line | EDJ-KQ39540 | Human | 151963 | Details Get a Quote |
