RAB12: A Small GTPase Involved in Vesicle Trafficking and Autophagy
Comprehensive genomic and functional overview of RAB12, a member of the RAS oncogene family with emerging roles in cancer and neurodegenerative disorders.
Gene Information Card
| Symbol | RAB12 |
|---|---|
| Full Name | RAB12, member RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | 201475 ncbi.nlm.nih.gov/gene/201475 |
| Ensembl ID | ENSG00000141480 |
| UniProt ID | Q6IQ22 |
| OMIM ID | 618870 |
| HGNC ID | 30237 |
| Aliases | RAB12, RAB12L1 |
Description
RAB12 is a small GTPase belonging to the RAS superfamily of proteins. It regulates intracellular vesicle trafficking, particularly the recycling of transferrin receptors and the maturation of autophagosomes. RAB12 is involved in the endocytic pathway and autophagy, and its dysregulation has been implicated in cancer and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered RAB12 expression may disrupt vesicle trafficking and autophagy, promoting tumor growth and metastasis. | COSMIC; PubMed: 28473536 |
| Neurodegenerative disorders | RAB12 dysfunction impairs autophagic flux, leading to accumulation of protein aggregates. | PubMed: 28473536; OMIM: 618870 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Lung | 3.8 | Low |
| Liver | 2.1 | Low |
| Kidney | 4.5 | Medium |
| Testis | 6.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 4.8 | Cervical cancer cell line |
| A549 | 3.5 | Lung cancer cell line |
| HEK293 | 5.1 | Embryonic kidney cell line |
| MCF7 | 4.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.454G>A (p.Glu152Lys) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • autophagy |
| • endosome to lysosome transport | • regulation of autophagosome assembly |
Pathways
• Endocytosis
• Autophagy
• RAB regulation of trafficking
Protein Summary
RAB12 is a 244-amino-acid small GTPase that cycles between an active GTP-bound and inactive GDP-bound state. It localizes to recycling endosomes and autophagic vesicles, where it facilitates the transport of cargo such as transferrin receptor and promotes autophagosome maturation. Its activity is regulated by guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB12 Knockout HEK293 Cell Line | EDJ-KQ4878 | Human | 201475 | Details Get a Quote |
| RAB12 Knockout HCT 116 Cell Line | EDJ-KQ26459 | Human | 201475 | Details Get a Quote |
| RAB12 Knockout A-549 Cell Line | EDJ-KQ27671 | Human | 201475 | Details Get a Quote |
| RAB12 Knockout HeLa Cell Line | EDJ-KQ27673 | Human | 201475 | Details Get a Quote |
| RAB12 Knockout HAP1 Cell Line | EDC07853 | Human | 201475 | Details Get a Quote |
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