ANKRD27
Ankyrin Repeat Domain 27
Gene Information Card
| Symbol | ANKRD27 |
|---|---|
| Full Name | Ankyrin Repeat Domain 27 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.11 |
| NCBI Gene ID | 84079 ncbi.nlm.nih.gov/gene/84079 |
| Ensembl ID | ENSG00000104866 |
| UniProt ID | Q96NW4 |
| OMIM ID | 615493 |
| HGNC ID | 25419 |
| Aliases | VARP, FLJ10707, MGC131831 |
Description
ANKRD27 (ankyrin repeat domain 27), also known as VARP (VPS9 domain and ankyrin repeats-containing protein), encodes a protein involved in endosomal trafficking and membrane dynamics. The protein contains an N-terminal VPS9 domain that acts as a guanine nucleotide exchange factor (GEF) for Rab21 and Rab5, and C-terminal ankyrin repeats that mediate interactions with other trafficking proteins. ANKRD27 is essential for endosome-to-lysosome transport and melanosome biogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | Potential role in melanosome trafficking; altered expression may affect pigmentation and metastasis | COSMIC; literature |
| Neurodevelopmental disorder with microcephaly and seizures | Loss-of-function mutations impair endosomal trafficking leading to neuronal dysfunction | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Skin | 8.3 | Low |
| Lung | 6.1 | Low |
| Testis | 15.2 | Medium |
| Kidney | 9.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 11.5 | Moderate expression |
| SH-SY5Y | 18.0 | High expression (neuronal) |
| A375 | 7.8 | Low expression (melanoma) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function; premature stop |
| c.890A>G (p.Tyr297Cys) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated protein and loss of VPS9 GEF activity, impairing endosomal trafficking.
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)
| • GTPase activator activity | • Rab guanyl-nucleotide exchange factor activity |
| • endosome to lysosome transport | • early endosome |
| • melanosome | • protein transport |
Pathways
• Endosomal trafficking (RAB5/RAB21 pathway)
• Melanosome biogenesis
Protein Summary
The ANKRD27 protein (VARP) is a 1139-amino acid multi-domain protein that functions as a Rab21/Rab5 GEF via its VPS9 domain. It localizes to early endosomes and melanosomes, regulating endosome-to-lysosome transport and melanosome maturation. The C-terminal ankyrin repeats mediate interactions with VAMP7 and other SNARE proteins, facilitating membrane fusion events. Mutations in ANKRD27 are associated with neurodevelopmental disorders and may contribute to melanoma progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD27 Knockout HEK293 Cell Line | EDJ-KQ9974 | Human | 84079 | Details Get a Quote |
| ANKRD27 Knockout A-549 Cell Line | EDJ-KQ36911 | Human | 84079 | Details Get a Quote |
| ANKRD27 Knockout HCT 116 Cell Line | EDJ-KQ36912 | Human | 84079 | Details Get a Quote |
| ANKRD27 Knockout HeLa Cell Line | EDJ-KQ36913 | Human | 84079 | Details Get a Quote |
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