ABR Gene - Active BCR-Related Gene
ABR: A GTPase-Activating Protein Involved in Cell Signaling and Disease
Gene Information Card
| Symbol | ABR |
|---|---|
| Full Name | Active BCR-Related Gene |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 29 ncbi.nlm.nih.gov/gene/29 |
| Ensembl ID | ENSG00000159840 |
| UniProt ID | Q12979 |
| OMIM ID | 600365 |
| HGNC ID | 83 |
| Aliases | MGC129621, MGC129622 |
Description
The ABR gene (Active BCR-Related) encodes a protein that functions as a GTPase-activating protein (GAP) for Rac and Cdc42, regulating cytoskeletal organization and cell signaling. It is involved in neuronal development, immune response, and tumor suppression. Mutations and altered expression of ABR have been implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | ABR loss-of-function mutations may contribute to tumor progression via dysregulated Rac/Cdc42 signaling | COSMIC, ClinVar |
| Prostate Cancer | Reduced ABR expression associated with aggressive disease and poor prognosis | COSMIC, NCBI |
| Neurodevelopmental Disorders | ABR variants linked to intellectual disability and autism spectrum disorders | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.1 | Low |
| Prostate | 5.4 | Low |
| Testis | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney |
| SH-SY5Y | 15.8 | Neuroblastoma |
| MCF7 | 7.5 | Breast cancer |
| PC3 | 4.9 | Prostate cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function |
| c.890A>G (p.Asn297Ser) | Missense | 0.2% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein and loss of GAP activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Rac GTPase binding |
| • Cdc42 GTPase binding | • cytoskeleton organization |
| • signal transduction | • cell migration |
Pathways
• Rac signaling pathway
• Cdc42 signaling pathway
• Regulation of actin cytoskeleton
Protein Summary
The ABR protein (Q12979) is a 856-amino acid GTPase-activating protein that contains a PH domain, a C2 domain, and a RhoGAP domain. It specifically inactivates Rac1 and Cdc42 by stimulating their GTP hydrolysis, thereby regulating actin dynamics, cell adhesion, and migration. ABR is widely expressed, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GABRD Knockout HEK293 Cell Line | EDJ-KQ2098 | Human | 2563 | Details Get a Quote |
| GABRP Knockout HEK293 Cell Line | EDJ-KQ2644 | Human | 2568 | Details Get a Quote |
| GABRE Knockout HEK293 Cell Line | EDJ-KQ2844 | Human | 2564 | Details Get a Quote |
| GABRG2 Knockout HEK293 Cell Line | EDJ-KQ3192 | Human | 2566 | Details Get a Quote |
| GABRA1 Knockout HEK293 Cell Line | EDJ-KQ3507 | Human | 2554 | Details Get a Quote |
| GABRA6 Knockout HEK293 Cell Line | EDJ-KQ3888 | Human | 2559 | Details Get a Quote |
| GABRA2 Knockout HEK293 Cell Line | EDJ-KQ3900 | Human | 2555 | Details Get a Quote |
| GABRB3 Knockout HEK293 Cell Line | EDJ-KQ3911 | Human | 2562 | Details Get a Quote |
| ABR Knockout HEK293 Cell Line | EDJ-KQ3989 | Human | 29 | Details Get a Quote |
| GABRR3 Knockout HEK293 Cell Line | EDJ-KQ4640 | Human | 200959 | Details Get a Quote |
| GABRA3 Knockout HEK293 Cell Line | EDJ-KQ4653 | Human | 2556 | Details Get a Quote |
| GABRA5 Knockout HEK293 Cell Line | EDJ-KQ4654 | Human | 2558 | Details Get a Quote |
| GABRB1 Knockout HEK293 Cell Line | EDJ-KQ4656 | Human | 2560 | Details Get a Quote |
| GABRB2 Knockout HEK293 Cell Line | EDJ-KQ4657 | Human | 2561 | Details Get a Quote |
| GABRG1 Knockout HEK293 Cell Line | EDJ-KQ4658 | Human | 2565 | Details Get a Quote |
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