AKNA
AT-hook transcription factor involved in immune regulation and cancer
Gene Information Card
| Symbol | AKNA |
|---|---|
| Full Name | AT-hook transcription factor |
| Gene Type | protein-coding |
| Chromosomal Location | 9q32 |
| NCBI Gene ID | 80709 ncbi.nlm.nih.gov/gene/80709 |
| Ensembl ID | ENSG00000106948 |
| UniProt ID | Q7Z591 |
| OMIM ID | 609479 |
| HGNC ID | 24086 |
| Aliases | FLJ10718, MGC138290, MGC138292 |
Description
AKNA (AT-hook transcription factor) is a protein-coding gene located on chromosome 9q32. It encodes a nuclear protein containing AT-hook motifs that bind to AT-rich DNA sequences, functioning as a transcription factor involved in regulating immune response, cell cycle, and differentiation. AKNA is implicated in various cancers and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cervical cancer | AKNA downregulation is associated with increased susceptibility to HPV infection and cervical carcinogenesis | PMID: 15601843 |
| Breast cancer | AKNA expression is reduced in breast tumors, correlating with poor prognosis | PMID: 23431147 |
| Colorectal cancer | AKNA loss promotes tumor growth and metastasis via Wnt/β-catenin pathway | PMID: 27562872 |
| Systemic lupus erythematosus | AKNA polymorphisms are associated with autoimmune susceptibility | PMID: 21706003 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Lung | 6.1 | Low |
| Breast | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HCT116 | 7.5 | Colorectal cancer cell line |
| K562 | 5.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T | Missense | 0.02% | p.Arg375Trp; potential loss of DNA binding |
| c.1456_1457del | Frameshift | <0.01% | p.Glu486fs; truncation |
| c.789G>A | Synonymous | 0.05% | No amino acid change |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein with impaired transcriptional activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003677 (DNA binding) | • GO:0003700 (DNA-binding transcription factor activity) |
| • GO:0005634 (nucleus) | • GO:0045944 (positive regulation of transcription by RNA polymerase II) |
| • GO:0006955 (immune response) |
Pathways
• Wnt signaling pathway
• p53 signaling pathway
• HPV infection pathway
Protein Summary
The AKNA protein is a 1,318-amino acid nuclear transcription factor containing AT-hook motifs that mediate binding to AT-rich DNA regions. It regulates expression of genes involved in immune response, cell cycle control, and differentiation. AKNA is frequently downregulated in cancers, contributing to tumor progression and immune evasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKNA Knockout HEK293 Cell Line | EDJ-KQ9549 | Human | 80709 | Details Get a Quote |
| AKNAD1 Knockout HEK293 Cell Line | EDJ-KQ11763 | Human | 254268 | Details Get a Quote |
| AKNA Knockout HCT 116 Cell Line | EDJ-KQ35083 | Human | 80709 | Details Get a Quote |
| AKNAD1 Knockout A-549 Cell Line | EDJ-KQ40154 | Human | 254268 | Details Get a Quote |
| AKNA Knockout A-549 Cell Line | EDJ-KQ36338 | Human | 80709 | Details Get a Quote |
| AKNA Knockout HeLa Cell Line | EDJ-KQ36340 | Human | 80709 | Details Get a Quote |
| AKNAD1 Knockout HCT 116 Cell Line | EDJ-KQ38894 | Human | 254268 | Details Get a Quote |
| AKNAD1 Knockout HeLa Cell Line | EDJ-KQ59255 | Human | 254268 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
