SGF29: SAGA Complex Associated Factor, Transcriptional Regulator
A component of the SAGA (Spt-Ada-Gcn5 acetyltransferase) complex involved in chromatin remodeling and transcription activation.
Gene Information Card
| Symbol | SGF29 |
|---|---|
| Full Name | SAGA complex associated factor 29 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 22984 ncbi.nlm.nih.gov/gene/22984 |
| Ensembl ID | ENSG00000103174 |
| UniProt ID | Q96ES7 |
| OMIM ID | 617572 |
| HGNC ID | 29020 |
| Aliases | C2orf29, SGF29, SAGA-associated factor 29 |
Description
SGF29 encodes a component of the SAGA (Spt-Ada-Gcn5 acetyltransferase) transcriptional coactivator complex. The protein contains a Tudor domain that recognizes methylated histones, facilitating recruitment of the SAGA complex to chromatin for histone acetylation and transcription activation. SGF29 is involved in cellular processes including growth, differentiation, and stress response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | SGF29 overexpression or mutation may alter SAGA complex activity, affecting transcription of oncogenes or tumor suppressors. | COSMIC database reports somatic mutations in multiple cancer types. |
| Neurodevelopmental disorders | Rare variants in SGF29 have been associated with intellectual disability and developmental delay. | ClinVar lists pathogenic/likely pathogenic variants in patients with neurodevelopmental phenotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Spleen | 8.2 | Medium |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| K562 | 9.5 | Leukemia cell line |
| HeLa | 8.7 | Cervical cancer cells |
| HepG2 | 7.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Alters Tudor domain; potential loss of histone binding |
| c.632_633del (p.Glu211Glyfs*12) | Frameshift | <0.01% | Truncation; likely loss of function |
| c.100G>A (p.Glu34Lys) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to cause loss of SGF29 protein function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in SGF29.
Dominant Negative (DN)
Not established; potential dominant-negative effects of missense mutations in the Tudor domain have not been confirmed.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SAGA complex-mediated histone acetylation (Reactome: R-HSA-3214847)
• Chromatin modifying enzymes (KEGG: hsa05202)
Protein Summary
SGF29 is a 29 kDa protein containing a Tudor domain that specifically binds trimethylated lysine 4 on histone H3 (H3K4me3). It is a stable component of the SAGA complex, which acetylates histones and deubiquitinates H2B to regulate transcription. The protein is ubiquitously expressed with higher levels in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SGF29 Knockout HEK293 Cell Line | EDJ-KQ6759 | Human | 112869 | Details Get a Quote |
| SGF29 Knockout A-549 Cell Line | EDJ-KQ32558 | Human | 112869 | Details Get a Quote |
| SGF29 Knockout HCT 116 Cell Line | EDJ-KQ32560 | Human | 112869 | Details Get a Quote |
| SGF29 Knockout HeLa Cell Line | EDJ-KQ32561 | Human | 112869 | Details Get a Quote |
