WAC Gene (WW Domain Containing Adapter with Coiled-Coil)
A comprehensive biomedical resource on the WAC gene, including genomic annotation, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | WAC |
|---|---|
| Full Name | WW domain containing adapter with coiled-coil |
| Gene Type | protein-coding |
| Chromosomal Location | 10p12.1 |
| NCBI Gene ID | 51322 ncbi.nlm.nih.gov/gene/51322 |
| Ensembl ID | ENSG00000107968 |
| UniProt ID | Q9BTA9 |
| OMIM ID | 615049 |
| HGNC ID | 17327 |
| Aliases | BM-016, PRO1741, WAC-AS1 |
Description
The WAC gene encodes a protein containing a WW domain and a coiled-coil region, functioning as an adapter in cellular signaling and transcriptional regulation. It is involved in processes such as autophagy, DNA damage response, and RNA splicing. Mutations in WAC are associated with neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL) | Loss-of-function mutations in WAC disrupt transcriptional regulation and neuronal development | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants in WAC implicated in synaptic dysfunction | ClinVar |
| Breast cancer | WAC overexpression or mutation may alter autophagy and cell proliferation | COSMIC |
| Colorectal cancer | Somatic mutations in WAC identified in tumor samples | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Lung | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 8.5 | Cervical cancer cells |
| K562 | 6.3 | Leukemia cells |
| SH-SY5Y | 12.8 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.157C>T (p.Arg53*) | Nonsense | Rare | Loss of function; associated with NDHSAL |
| c.1180G>A (p.Glu394Lys) | Missense | Rare | Unknown; reported in autism |
| c.1645_1646del (p.Glu549fs) | Frameshift | Rare | Loss of function; associated with NDHSAL |
| c.2023A>G (p.Thr675Ala) | Missense | Somatic | Found in colorectal cancer (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in WAC lead to truncated or absent protein, causing haploinsufficiency linked to neurodevelopmental disorders.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression in some cancers may contribute to tumorigenesis.
Dominant Negative (DN)
Not established for WAC; most pathogenic mutations are loss-of-function.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • autophagy (GO:0006914) |
| • DNA damage response (GO:0006974) | • RNA splicing (GO:0008380) |
Pathways
• Autophagy pathway
• DNA damage response pathway
• mRNA splicing pathway
Protein Summary
The WAC protein (UniProt Q9BTA9) is a 675-amino-acid adapter with a WW domain and coiled-coil region. It localizes to the nucleus and cytoplasm, regulating autophagy by interacting with GABARAP and ATG proteins, and participates in DNA repair and RNA processing. Its expression is moderate in brain and testis, with lower levels in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WAC Knockout HEK293 Cell Line | EDJ-KQ11048 | Human | 51322 | Details Get a Quote |
| WAC Knockout HCT 116 Cell Line | EDJ-KQ38962 | Human | 51322 | Details Get a Quote |
| WAC Knockout HeLa Cell Line | EDJ-KQ38963 | Human | 51322 | Details Get a Quote |
| WAC Knockout A-549 Cell Line | EDJ-KQ37653 | Human | 51322 | Details Get a Quote |
