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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HSCB
HscB mitochondrial iron-sulfur cluster cochaperone
Chromosome 22 · 22q12.1
NCBI Gene: 150274Ensembl: ENSG00000100209.11HGNC: HGNC:28913UniProt: B0QYH2
33PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionprotein bindingcytoplasmidentical protein bindingX-linked sideroblastic anemia 1neurodegenerative diseaseatrial fibrillationlysosomal storage disease
✦AI Summary

HSCB (heat shock cognate B) is a mitochondrial J-type co-chaperone essential for iron-sulfur cluster biogenesis and transfer. As a cochaperone partner of mitochondrial Hsp70 (HSPA9), HSCB facilitates the assembly and delivery of [2Fe-2S] clusters to recipient proteins by binding to the scaffold protein ISCU and mediating complex formation with the cytosolic iron-sulfur assembly (CIA) targeting complex components 1. This enables iron-sulfur cluster insertion into cytoplasmic and nuclear proteins including POLD1, ELP3, DPYD, and PPAT 1. HSCB contains a conserved J-domain and a distinctive N-terminal tetracysteine metal-binding domain that coordinates zinc with high affinity, critical for protein stability and function 23. Beyond its canonical iron-sulfur function, HSCB exhibits a noncanonical role in erythropoiesis and megakaryopoiesis: phosphorylation by PI3K enables HSCB to mediate proteasomal degradation of TACC3, facilitating FOG1 nuclear translocation, a key transcription factor for these hematopoietic processes 4. Mutations in HSCB cause congenital sideroblastic anemia (CSA), with both frameshift and promoter variants reducing HSCB expression and impairing iron-sulfur cluster biogenesis, hemoglobinization, and erythropoiesis 5. These findings establish HSCB as critical for both mitochondrial iron-sulfur metabolism and hematopoietic development.

Sources cited
1
As a cochaperone partner of mitochondrial Hsp70 (HSPA9), HSCB facilitates the assembly and delivery of [2Fe-2S] clusters to recipient proteins by binding to the scaffold protein ISCU and mediating complex formation with the cytosolic iron-sulfur assembly (CIA) targeting complex components .
PMID: 29309586
2
Beyond its canonical iron-sulfur function, HSCB exhibits a noncanonical role in erythropoiesis and megakaryopoiesis: phosphorylation by PI3K enables HSCB to mediate proteasomal degradation of TACC3, facilitating FOG1 nuclear translocation, a key transcription factor for these hematopoietic processes .
PMID: 38757931
3
Mutations in HSCB cause congenital sideroblastic anemia (CSA), with both frameshift and promoter variants reducing HSCB expression and impairing iron-sulfur cluster biogenesis, hemoglobinization, and erythropoiesis .
PMID: 32634119
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
X-linked sideroblastic anemia 1Open Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.52Moderate
atrial fibrillationOpen Targets
0.29Weak
lysosomal storage diseaseOpen Targets
0.27Weak
glaucomaOpen Targets
0.19Weak
open-angle glaucomaOpen Targets
0.18Weak
esophageal carcinomaOpen Targets
0.18Weak
goutOpen Targets
0.13Weak
breast carcinomaOpen Targets
0.13Weak
esophageal squamous cell carcinomaOpen Targets
0.11Weak
squamous cell carcinomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
Ovarian cystOpen Targets
0.08Suggestive
benign colon neoplasmOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
leukemiaOpen Targets
0.06Suggestive
prostate carcinomaOpen Targets
0.06Suggestive
lymphoid leukemiaOpen Targets
0.06Suggestive
clonal hematopoiesisOpen Targets
0.05Suggestive
polycystic ovary syndromeOpen Targets
0.05Suggestive
Anemia, sideroblastic, 5UniProt
Pathogenic Variants2
NM_172002.5(HSCB):c.259dup (p.Thr87fs)Pathogenic
Anemia, sideroblastic, 5
☆☆☆☆2021→ Residue 87
NC_000022.11:g.28741962G>APathogenic
Anemia, sideroblastic, 5
☆☆☆☆2021
View on ClinVar ↗
Related Genes
HSPA9Protein interaction98%UQCR10Protein interaction96%SDHAF1Protein interaction90%NFU1Protein interaction87%LYRM7Protein interaction87%GRPEL1Protein interaction86%
Tissue Expression6 tissues
Liver
100%
Ovary
65%
Lung
38%
Brain
33%
Heart
33%
Bone Marrow
16%
Gene Interaction Network
Click a node to explore
HSCBHSPA9UQCR10SDHAF1NFU1LYRM7GRPEL1
PROTEIN STRUCTURE
Preparing viewer…
PDB3BVO · 3.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.91LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF0.52 [0.31–0.91]
RankingsWhere HSCB stands among ~20K protein-coding genes
  • #11,352of 20,598
    Most Researched33
  • #4,498of 5,498
    Most Pathogenic Variants2
  • #8,262of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedHSCB
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone.
PMID: 12938016
J Hum Genet · 2003
1.00
2
Structural characterization of the human DjC20/HscB cochaperone in solution.
PMID: 37871810
Biochim Biophys Acta Proteins Proteom · 2024
0.90
3
Hematopoietic stem cell boost for persistent neutropenia after CAR T-cell therapy: a GLA/DRST study.
PMID: 35696759
Blood Adv · 2023
0.80
4
PI3K/HSCB axis facilitates FOG1 nuclear translocation to promote erythropoiesis and megakaryopoiesis.
PMID: 38757931
Elife · 2024
0.70
5
Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia.
PMID: 32634119
J Clin Invest · 2020
0.60