ST13

Chr 22

ST13 Hsp70 interacting protein

Also known as: AAG2, FAM10A1, FAM10A4, HIP, HOP, HSPABP, HSPABP1, P48

NCBI Gene: 6767ENSG00000100380UniProt: P50502

The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that it is a candidate tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]

95
ClinVar variants
21
Pathogenic / LP
0.66
pLI score
0
Active trials
Clinical Summary— ST13
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.66) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
21 Pathogenic / Likely Pathogenic· 51 VUS of 95 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.41LOEUF
pLI 0.661
Z-score 3.75
OE 0.20 (0.10–0.41)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.95Z-score
OE missense 0.81 (0.72–0.93)
166 obs / 204.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.20 (0.10–0.41)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.81 (0.72–0.93)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.04
0≤1.21.6
LoF obs/exp: 5 / 25.4Missense obs/exp: 166 / 204.1Syn Z: -0.25

ClinVar Variant Classifications

95 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic20
Likely Pathogenic1
VUS51
Likely Benign2
Benign2
20
Pathogenic
1
Likely Pathogenic
51
VUS
2
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
20
0
20
Likely Pathogenic
0
0
1
0
1
VUS
0
43
8
0
51
Likely Benign
0
2
0
0
2
Benign
0
1
1
0
2
Total04630076

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ST13 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
ST13 polymorphisms and their effect on exacerbations in steroid-treated asthmatic children and young adults.
Vijverberg SJ et al.·Clin Exp Allergy
2015Meta-analysis
Prognosis-related autophagy genes in female lung adenocarcinoma.
Liu Z et al.·Medicine (Baltimore)
2022
A Phase 3 Randomized Clinical Trial to Compare Efficacy and Safety between Combination Therapy and Monotherapy in Elderly Patients with Advanced Gastric Cancer (KCSG ST13-10).
Lee KW et al.·Cancer Res Treat
2023Clinical trial
Microbiological and clinical characteristics of Streptococcus pneumoniae serotype 3 infection and risk factors for severe outcome: A multicenter observational study.
Aydin MA et al.·J Microbiol Immunol Infect
2023
Emergence of Five Genetic Lines ST395(NDM-1), ST13(OXA-48), ST3346(OXA-48), ST39(CTX-M-14), and Novel ST3551(OXA-48) of Multidrug-Resistant Clinical Klebsiella pneumoniae in Russia.
Fursova NK et al.·Microb Drug Resist
2020
Using Whole Genome Sequencing to Investigate a Mock-Outbreak of Carbapenem-Resistant Klebsiella pneumoniae in Real-Time.
Simões AS et al.·Acta Med Port
2022
Perceptions of training in gonioscopy.
Feng R et al.·Eye (Lond)
2019
Genome-wide analysis and longitudinal study of Klebsiella pneumoniae in Portugal: Tracing the evolution and spread of carbapenem resistance.
Elias R et al.·Int J Antimicrob Agents
2025Natural history
Association of Blastocystis ST6 with higher protease activity among symptomatic subjects.
Karamati SA et al.·BMC Microbiol
2021
Multiplex Determination of K-Antigen and Colanic Acid Capsule Variants of Cronobacter sakazakii.
Ibrahim KM et al.·Genes (Basel)
2024
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools