HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
8 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SUPT7L
SPT7 like, STAGA complex subunit gamma
Chromosome 2 Β· 2p23.3
NCBI Gene: 9913Ensembl: ENSG00000119760.17HGNC: HGNC:30632UniProt: O94864
49PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
transcription coactivator activityprotein bindingmaintenance of protein location in nucleusnucleusFischer-Zirnsak progeroid syndromeclonal hematopoiesishair colordiverticular disease
✦AI Summary

SUPT7L (SPT7 like) encodes a component of the STAGA transcriptional coactivator complex, which functions as a histone acetyltransferase involved in regulating RNA polymerase II-dependent transcription 1. SUPT7L serves as a scaffold protein that interacts with other STAGA subunits and facilitates complex assembly; it forms heterodimeric interactions with TAF10 through histone fold domains and participates in nuclear localization of TAF10 23. The protein regulates gene expression and is involved in DNA repair pathway components and genome stability maintenance 4. Loss-of-function variants in SUPT7L cause Fischer-Zirnsak progeroid syndrome, a developmental disorder characterized by intrauterine growth retardation, generalized lipodystrophy, and progeroid features 4. Disease-associated variants (missense and frameshift mutations) lead to aberrant splicing, SUPT7L protein absence, and elevated DNA damage in dermal fibroblasts; wildtype SUPT7L overexpression normalizes DNA damage levels, establishing a direct link between SUPT7L function and genome stability 4. Beyond Mendelian disease, SUPT7L shows altered expression in human malignancies. It functions as a prospective epigenetic oncogene in hepatocellular carcinoma and is associated with tumor stage mycosis fungoides progression 56. SUPT7L expression also correlates with survival outcomes in esophageal squamous cell carcinoma 7, suggesting broader roles in tumorigenesis alongside its essential transcriptional regulatory functions.

Sources cited
1
Loss-of-function SUPT7L variants cause developmental disorder with generalized lipodystrophy and progeroid features; variants cause aberrant splicing, DNA damage elevation, and genome instability
PMID: 38592547
2
STAGA complex (containing SUPT7L) functions in p53-dependent transcriptional coactivation with histone acetyltransferase activity
PMID: 18250150
3
SPT7L is a subunit of STAGA/TFTC complex; forms histone fold-containing interactions with TAF10 and TAF8 in multi-subunit transcription regulatory complexes
PMID: 17375202
4
SPT7L contains nuclear localization signal required for TAF10 nuclear import and participates in TFIID/TFTC complex assembly
PMID: 15870280
5
SUPT7L identified as prospective epigenetic oncogene in hepatocellular carcinoma through functional perturbation studies
PMID: 41554700
6
SUPT7L identified as hub gene associated with tumor stage mycosis fungoides and cutaneous T-cell lymphoma
PMID: 29794791
7
SUPT7L expression nominally associated with survival outcomes in esophageal squamous cell carcinoma
PMID: 32375686
8
TAF8 and TAF10 form cytoplasmic submodules involved in TFIID assembly pathway, relevant to SUPT7L interaction networks
PMID: 25586196
Disease Associationsβ“˜21
Fischer-Zirnsak progeroid syndromeOpen Targets
0.42Moderate
clonal hematopoiesisOpen Targets
0.25Weak
hair colorOpen Targets
0.14Weak
diverticular diseaseOpen Targets
0.10Suggestive
early-onset non-syndromic cataractOpen Targets
0.07Suggestive
uncombable hair syndrome 2Open Targets
0.06Suggestive
Cataract-microcornea syndromeOpen Targets
0.06Suggestive
Total congenital cataractOpen Targets
0.06Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.06Suggestive
early-onset zonular cataractOpen Targets
0.06Suggestive
uncombable hair syndromeOpen Targets
0.05Suggestive
isolated familial wooly hair disorderOpen Targets
0.05Suggestive
Woolly hairOpen Targets
0.05Suggestive
Partial congenital cataractOpen Targets
0.05Suggestive
Posterior polar cataractOpen Targets
0.05Suggestive
isolated ectopia lentisOpen Targets
0.05Suggestive
early-onset nuclear cataractOpen Targets
0.05Suggestive
pulverulent cataractOpen Targets
0.05Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.05Suggestive
monilethrixOpen Targets
0.05Suggestive
Fischer-Zirnsak progeroid syndromeUniProt
Pathogenic Variants2
NM_014860.3(SUPT7L):c.255_258dup (p.Asn87fs)Pathogenic
Fischer-Zirnsak progeroid syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 87
NM_014860.3(SUPT7L):c.80G>A (p.Arg27Gln)Pathogenic
Fischer-Zirnsak progeroid syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 27
View on ClinVar β†—
Related Genes
SGF29Protein interaction100%WDR5Protein interaction100%TADA3Protein interaction100%ENY2Protein interaction100%DR1Protein interaction100%KAT2AProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
81%
Heart
76%
Liver
71%
Lung
61%
Brain
46%
Gene Interaction Network
Click a node to explore
SUPT7LSGF29WDR5TADA3ENY2DR1KAT2A
PROTEIN STRUCTURE
Preparing viewer…
PDB7KTR Β· 2.93 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.62LoF Tolerant
pLIβ“˜
0.39Tolerant
Observed/Expected LoF0.40 [0.27–0.62]
RankingsWhere SUPT7L stands among ~20K protein-coding genes
  • #9,022of 20,598
    Most Researched49
  • #4,440of 5,498
    Most Pathogenic Variants2
  • #4,324of 17,882
    Most Constrained (LOEUF)0.62 Β· top quartile
Genes detectedSUPT7L
Sources retrieved8 papers
Response timeβ€”
πŸ“„ Sources
8β–Ό
1
Oncogenomic analysis identifies novel biomarkers for tumor stage mycosis fungoides.
PMID: 29794791
Medicine (Baltimore) Β· 2018
1.00
2
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
PMID: 38592547
Hum Genet Β· 2024
0.88
3
Integrated analysis of genome-wide miRNAs and targeted gene expression in esophageal squamous cell carcinoma (ESCC) and relation to prognosis.
PMID: 32375686
BMC Cancer Β· 2020
0.75
4
The role of histone demethylase PHF2 as a tumour suppressor in hepatocellular carcinoma by regulating SRXN1.
PMID: 41554700
Oncogenesis Β· 2026
0.63
5
Identification of a small TAF complex and its role in the assembly of TAF-containing complexes.
PMID: 17375202
PLoS One Β· 2007
0.50