HMGXB3
HMG-box containing 3
Gene Information Card
| Symbol | HMGXB3 |
|---|---|
| Full Name | HMG-box containing 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 22993 ncbi.nlm.nih.gov/gene/22993 |
| Ensembl ID | ENSG00000113580 |
| UniProt ID | Q12767 |
| OMIM ID | 617169 |
| HGNC ID | 24919 |
| Aliases | HMGXB3, HMG2L1, HMGXB3 |
Description
HMGXB3 (HMG-box containing 3) is a protein-coding gene located on chromosome 5q35.3. It encodes a member of the high-mobility group (HMG) protein family, characterized by HMG-box domains that mediate DNA binding and bending. The protein is involved in chromatin remodeling, transcriptional regulation, and may play a role in cell proliferation and differentiation. HMGXB3 is ubiquitously expressed with higher levels in testis, brain, and lymphoid tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lymph node | 7.9 | Low |
| Spleen | 6.4 | Low |
| Liver | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 9.8 | Leukemia cell line |
| HeLa | 7.5 | Cervical carcinoma |
| HEK293 | 6.2 | Embryonic kidney |
| A549 | 5.1 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare (gnomAD <0.01%) | Predicted loss-of-function |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
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)
| • DNA binding | • chromatin binding |
| • transcription regulator activity | • nucleus |
| • regulation of transcription by RNA polymerase II |
Pathways
• Chromatin organization
• Transcriptional regulation by HMG-box proteins
Protein Summary
HMGXB3 is a 789-amino acid protein containing two HMG-box domains. It binds DNA in a sequence-independent manner and induces DNA bending, facilitating the assembly of transcription factor complexes. The protein is localized to the nucleus and is involved in chromatin structure modulation. Its expression is widespread, with highest levels in testis and brain. No direct disease associations have been established, but its role in transcriptional regulation suggests potential involvement in developmental or neoplastic processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HMGXB3 Knockout HEK293 Cell Line | EDJ-KQ7767 | Human | 22993 | Details Get a Quote |
| HMGXB3 Knockout A-549 Cell Line | EDJ-KQ33235 | Human | 22993 | Details Get a Quote |
| HMGXB3 Knockout HCT 116 Cell Line | EDJ-KQ33236 | Human | 22993 | Details Get a Quote |
| HMGXB3 Knockout HeLa Cell Line | EDJ-KQ33237 | Human | 22993 | Details Get a Quote |
