BEND2: BEN Domain Containing 2
A gene encoding a BEN domain-containing protein with potential roles in chromatin organization and transcriptional regulation.
Gene Information Card
| Symbol | BEND2 |
|---|---|
| Full Name | BEN domain containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.13 |
| NCBI Gene ID | 139105 ncbi.nlm.nih.gov/gene/139105 |
| Ensembl ID | ENSG00000147180 |
| UniProt ID | Q8N7W1 |
| OMIM ID | 300922 |
| HGNC ID | 26623 |
| Aliases | C6orf37, dJ1181N3.1, FLJ32709 |
Description
BEND2 (BEN domain containing 2) is a protein-coding gene located on the X chromosome. The encoded protein contains a BEN domain, which is implicated in chromatin-mediated transcriptional regulation and DNA binding. BEND2 is expressed in various tissues and may play a role in development and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential role in tumorigenesis via chromatin remodeling | COSMIC database reports somatic mutations in multiple cancer types |
| Intellectual disability (candidate) | X-linked gene; variants may affect neurodevelopment | OMIM #300922 (gene-disease association not fully established) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 3.2 | Low |
| Lung | 1.8 | Low |
| Breast | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 2.1 | Cervical cancer cell line |
| K562 | 1.5 | Leukemia cell line |
| A549 | 0.8 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Glu123Lys | Missense | 0.02% (COSMIC) | Unknown functional impact |
| p.Arg45* | Nonsense | 0.01% (COSMIC) | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg45*) likely result in truncated protein and loss of BEN domain function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in BEND2.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • nucleus (GO:0005634) |
| • regulation of transcription (GO:0006355) |
Pathways
• No specific pathways curated in Reactome or KEGG for BEND2.
Protein Summary
BEND2 encodes a 389-amino acid protein with a single BEN domain (residues 100-180). The BEN domain is a conserved DNA-binding module found in chromatin-associated proteins. BEND2 localizes to the nucleus and is predicted to regulate transcription through chromatin interactions. Its exact biological function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BEND2 Knockout HEK293 Cell Line | EDJ-KQ9506 | Human | 139105 | Details Get a Quote |
| BEND2 Knockout HeLa Cell Line | EDJ-KQ58405 | Human | 139105 | Details Get a Quote |
| BEND2 Knockout A-549 Cell Line | EDJ-KQ66894 | Human | 139105 | Details Get a Quote |
| BEND2 Knockout HCT 116 Cell Line | EDJ-KQ75296 | Human | 139105 | Details Get a Quote |
