HHIPL2 Gene (HHIP Like 2)
Gene, Function, and Disease Associations
Gene Information Card
| Symbol | HHIPL2 |
|---|---|
| Full Name | HHIP like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 79823 ncbi.nlm.nih.gov/gene/79823 |
| Ensembl ID | ENSG00000143127 |
| UniProt ID | Q8IY17 |
| OMIM ID | 616864 |
| HGNC ID | 26763 |
| Aliases | HHIPL, MGC131914 |
Description
HHIPL2 (HHIP like 2) is a protein-coding gene located on chromosome 1q41. It encodes a protein that is similar to hedgehog-interacting protein (HHIP) and may be involved in hedgehog signaling modulation. The gene is expressed in various tissues, with highest levels in the testis and brain. Mutations in HHIPL2 have been associated with primary ciliary dyskinesia and other ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Loss-of-function mutations impair ciliary function | ClinVar, OMIM |
| Ciliopathy | Disruption of hedgehog signaling pathway | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 5.1 | Low |
| Kidney | 4.7 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 6.8 | Low expression |
| A549 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of function, associated with primary ciliary dyskinesia.
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)
| • hedgehog receptor activity | • ciliary membrane |
| • signal transduction | • cell projection |
Pathways
• Hedgehog signaling pathway
Protein Summary
The HHIPL2 protein is a membrane-associated protein localized to cilia. It is involved in hedgehog signaling, which is critical for embryonic development and tissue homeostasis. The protein contains a hedgehog-interacting domain and is thought to modulate hedgehog ligand binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HHIPL2 Knockout HEK293 Cell Line | EDJ-KQ13748 | Human | 79802 | Details Get a Quote |
| HHIPL2 Knockout A-549 Cell Line | EDJ-KQ43517 | Human | 79802 | Details Get a Quote |
| HHIPL2 Knockout HeLa Cell Line | EDJ-KQ57233 | Human | 79802 | Details Get a Quote |
| HHIPL2 Knockout HCT 116 Cell Line | EDJ-KQ74162 | Human | 79802 | Details Get a Quote |
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