HASPIN (Germ Cell Associated 2) Gene
A serine/threonine kinase essential for histone H3 phosphorylation and mitotic regulation
Gene Information Card
| Symbol | HASPIN |
|---|---|
| Full Name | Germ cell associated 2 (haspin) |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 83903 ncbi.nlm.nih.gov/gene/83903 |
| Ensembl ID | ENSG00000108469 |
| UniProt ID | Q8TF76 |
| OMIM ID | 609240 |
| HGNC ID | HGNC:24920 |
| Aliases | GSG2, HASPIN, FLJ21908 |
Description
HASPIN (GSG2) encodes a serine/threonine kinase that phosphorylates histone H3 at threonine 3 (H3T3ph) during mitosis. This phosphorylation is essential for proper chromosome alignment and segregation by recruiting the chromosomal passenger complex (CPC) to centromeres. HASPIN is predominantly expressed in testis and in proliferating cells, and its dysregulation is implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Overexpression of HASPIN promotes mitotic errors and genomic instability | COSMIC, ClinVar |
| Breast cancer | Elevated HASPIN expression correlates with poor prognosis and increased proliferation | COSMIC, NCBI PubMed |
| Colorectal cancer | HASPIN knockdown reduces tumor growth in vitro and in vivo | COSMIC, NCBI PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Bone marrow | 12.8 | Medium |
| Lymph node | 8.5 | Medium |
| Brain | 1.2 | Low |
| Liver | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.1 | Cervical cancer cell line |
| MCF7 | 28.4 | Breast cancer cell line |
| HCT116 | 25.6 | Colorectal cancer cell line |
| HEK293 | 15.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.1% | Unknown functional impact |
| c.452G>A (p.Arg151Gln) | Missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity (GO:0004674) | • ATP binding (GO:0005524) |
| • kinase activity (GO:0016301) | • histone H3T3 kinase activity (GO:0035174) |
| • cell cycle (GO:0007049) | • cell division (GO:0051301) |
| • mitotic cell cycle (GO:0000278) | • nucleus (GO:0005634) |
Pathways
• Histone H3 threonine 3 phosphorylation
• Chromosomal passenger complex recruitment
• Mitotic spindle assembly checkpoint
Protein Summary
HASPIN is a 798-amino acid serine/threonine kinase with a catalytic domain in the C-terminal region. It specifically phosphorylates histone H3 at threonine 3 (H3T3ph) during mitosis, creating a docking site for the chromosomal passenger complex (CPC) via Survivin. This interaction is critical for proper chromosome alignment, spindle checkpoint activation, and cytokinesis. HASPIN activity is regulated by autophosphorylation and by CDK1-mediated phosphorylation. Overexpression in cancer cells contributes to mitotic defects and aneuploidy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HASPIN Knockout HEK293 Cell Line | EDJ-KQ9934 | Human | 83903 | Details Get a Quote |
| HASPIN Knockout A-549 Cell Line | EDJ-KQ36831 | Human | 83903 | Details Get a Quote |
| HASPIN Knockout HCT 116 Cell Line | EDJ-KQ36832 | Human | 83903 | Details Get a Quote |
| HASPIN Knockout HeLa Cell Line | EDJ-KQ36833 | Human | 83903 | Details Get a Quote |
