HEXIM2: Hexamethylene Bisacetamide Inducible 2
A regulator of transcription elongation and cardiac development
Gene Information Card
| Symbol | HEXIM2 |
|---|---|
| Full Name | Hexamethylene Bisacetamide Inducible 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 124790 ncbi.nlm.nih.gov/gene/124790 |
| Ensembl ID | ENSG00000108848 |
| UniProt ID | Q96MH2 |
| OMIM ID | 615523 |
| HGNC ID | 28456 |
| Aliases | HIS-2, MGC10744 |
Description
HEXIM2 encodes a protein that inhibits positive transcription elongation factor b (P-TEFb) by sequestering it into an inactive complex. This regulation of RNA polymerase II elongation is critical for controlling gene expression programs, including those involved in cardiac development and cellular differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiac septal defects | HEXIM2 mutations impair P-TEFb regulation, disrupting cardiac gene expression programs | OMIM 615523, ClinVar |
| Neurodevelopmental disorders | Altered HEXIM2 expression may affect neuronal gene elongation | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 15.2 | Medium |
| Brain | 8.7 | Low |
| Lung | 6.3 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 12.4 | Leukemia cell line |
| HeLa | 9.8 | Cervical carcinoma |
| HepG2 | 7.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Alters start codon, potential loss of function |
| c.214C>T | Nonsense | <0.01% | Premature stop, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in HEXIM2 are predicted to cause loss of P-TEFb inhibition, leading to dysregulated transcription elongation.
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)
| • nucleus (GO:0005634) | • protein binding (GO:0005515) |
| • snRNA transcription by RNA polymerase II (GO:0042795) | • regulation of transcription by RNA polymerase II (GO:0006357) |
Pathways
• P-TEFb regulation of transcription elongation (Reactome: R-HSA-112382)
• RNA polymerase II transcription (KEGG: hsa03020)
Protein Summary
HEXIM2 is a 359-amino acid nuclear protein that contains a coiled-coil domain and a C-terminal region essential for binding to P-TEFb. It forms a complex with 7SK snRNA and HEXIM1 to inhibit CDK9 kinase activity, thereby repressing transcription elongation. HEXIM2 is expressed in multiple tissues, with highest levels in heart, and plays a role in cardiac development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HEXIM2 Knockout HEK293 Cell Line | EDJ-KQ8620 | Human | 124790 | Details Get a Quote |
| HEXIM2 Knockout A-549 Cell Line | EDJ-KQ34770 | Human | 124790 | Details Get a Quote |
| HEXIM2 Knockout HCT 116 Cell Line | EDJ-KQ34771 | Human | 124790 | Details Get a Quote |
| HEXIM2 Knockout HeLa Cell Line | EDJ-KQ34772 | Human | 124790 | Details Get a Quote |
