SANBR Gene
SANT and BRD4 Interacting Protein
Gene Information Card
| Symbol | SANBR |
|---|---|
| Full Name | SANT and BRD4 Interacting Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 2p22.3 |
| NCBI Gene ID | 100131731 ncbi.nlm.nih.gov/gene/100131731 |
| Ensembl ID | ENSG00000188739 |
| UniProt ID | Q5T200 |
| OMIM ID | 618829 |
| HGNC ID | 37238 |
| Aliases | C2orf49, MGC16384, BRD4 interacting protein |
Description
SANBR (SANT and BRD4 Interacting Protein) is a protein-coding gene located on chromosome 2p22.3. It encodes a protein that interacts with BRD4 and contains a SANT domain, involved in chromatin regulation and transcriptional control. The gene is associated with developmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental delay with intellectual disability | Disruption of BRD4-mediated chromatin regulation | OMIM #618829 |
| Autism spectrum disorder | Altered transcriptional regulation | ClinVar |
| Neurodevelopmental disorder | Loss-of-function variants | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Heart | 5.4 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| HeLa | 10.2 | Moderate expression |
| K562 | 7.8 | Low expression |
| HepG2 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown significance |
| c.250delG (p.Glu84Lysfs*12) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants lead to truncated protein and loss of BRD4 interaction.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • protein binding |
| • nucleus | • regulation of transcription by RNA polymerase II |
Pathways
• BRD4 signaling pathway
• Chromatin remodeling
Protein Summary
The SANBR protein contains a SANT domain and interacts with BRD4, a key regulator of chromatin structure and transcription. It is localized to the nucleus and involved in transcriptional regulation. Loss-of-function mutations are associated with neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SANBR Knockout HEK293 Cell Line | EDJ-KQ15164 | Human | 84542 | Details Get a Quote |
| SANBR Knockout A-549 Cell Line | EDJ-KQ47940 | Human | 84542 | Details Get a Quote |
| SANBR Knockout HCT 116 Cell Line | EDJ-KQ47941 | Human | 84542 | Details Get a Quote |
| SANBR Knockout HeLa Cell Line | EDJ-KQ47942 | Human | 84542 | Details Get a Quote |
