Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	150274
Gene name	HscB mitochondrial iron-sulfur cluster cochaperone
Gene symbol	HSCB
Synonyms (NCBI Gene)	DNAJC20HSC20JAC1SIDBA5
Chromosome	22
Chromosome location	22q12.1
Summary	This gene encodes a DnaJ-type co-chaperone and member of the heat shock cognate B (HscB) family of proteins. The encoded protein plays a role in the synthesis of iron-sulfur clusters, protein cofactors that are involved in the redox reactions of mitochond

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miRTarBase ID	miRNA	Experiments	Reference
MIRT035893	hsa-miR-1303	CLASH	23622248
MIRT1055259	hsa-miR-122	CLIP-seq
MIRT1055260	hsa-miR-1234	CLIP-seq
MIRT1055261	hsa-miR-1264	CLIP-seq
MIRT1055262	hsa-miR-1267	CLIP-seq
MIRT1055263	hsa-miR-1976	CLIP-seq
MIRT1055264	hsa-miR-214	CLIP-seq
MIRT1055265	hsa-miR-3135b	CLIP-seq
MIRT1055266	hsa-miR-3149	CLIP-seq
MIRT1055267	hsa-miR-3187-3p	CLIP-seq
MIRT1055268	hsa-miR-320e	CLIP-seq
MIRT1055269	hsa-miR-3545-3p	CLIP-seq
MIRT1055270	hsa-miR-3619-5p	CLIP-seq
MIRT1055271	hsa-miR-3622a-5p	CLIP-seq
MIRT1055272	hsa-miR-3663-5p	CLIP-seq
MIRT1055273	hsa-miR-3664-5p	CLIP-seq
MIRT1055274	hsa-miR-3926	CLIP-seq
MIRT1055275	hsa-miR-4269	CLIP-seq
MIRT1055276	hsa-miR-4279	CLIP-seq
MIRT1055277	hsa-miR-4291	CLIP-seq
MIRT1055278	hsa-miR-4423-5p	CLIP-seq
MIRT1055279	hsa-miR-4435	CLIP-seq
MIRT1055280	hsa-miR-4438	CLIP-seq
MIRT1055281	hsa-miR-4503	CLIP-seq
MIRT1055282	hsa-miR-4635	CLIP-seq
MIRT1055283	hsa-miR-4639-3p	CLIP-seq
MIRT1055284	hsa-miR-4680-5p	CLIP-seq
MIRT1055285	hsa-miR-4701-5p	CLIP-seq
MIRT1055286	hsa-miR-4722-3p	CLIP-seq
MIRT1055287	hsa-miR-4772-3p	CLIP-seq
MIRT1055288	hsa-miR-4781-3p	CLIP-seq
MIRT1055289	hsa-miR-483-5p	CLIP-seq
MIRT1055290	hsa-miR-5095	CLIP-seq
MIRT1055291	hsa-miR-548s	CLIP-seq
MIRT1055292	hsa-miR-562	CLIP-seq
MIRT1055293	hsa-miR-588	CLIP-seq
MIRT1055294	hsa-miR-629	CLIP-seq
MIRT1055295	hsa-miR-761	CLIP-seq
MIRT1055296	hsa-miR-922	CLIP-seq
MIRT1055259	hsa-miR-122	CLIP-seq
MIRT2012655	hsa-miR-1224-3p	CLIP-seq
MIRT1055264	hsa-miR-214	CLIP-seq
MIRT1055265	hsa-miR-3135b	CLIP-seq
MIRT1055266	hsa-miR-3149	CLIP-seq
MIRT1055267	hsa-miR-3187-3p	CLIP-seq
MIRT1055268	hsa-miR-320e	CLIP-seq
MIRT1055269	hsa-miR-3545-3p	CLIP-seq
MIRT1055270	hsa-miR-3619-5p	CLIP-seq
MIRT1055272	hsa-miR-3663-5p	CLIP-seq
MIRT1055274	hsa-miR-3926	CLIP-seq
MIRT1055277	hsa-miR-4291	CLIP-seq
MIRT1055278	hsa-miR-4423-5p	CLIP-seq
MIRT1055279	hsa-miR-4435	CLIP-seq
MIRT1055282	hsa-miR-4635	CLIP-seq
MIRT1055284	hsa-miR-4680-5p	CLIP-seq
MIRT2012656	hsa-miR-4695-3p	CLIP-seq
MIRT1055285	hsa-miR-4701-5p	CLIP-seq
MIRT2012657	hsa-miR-4735-5p	CLIP-seq
MIRT2012658	hsa-miR-4775	CLIP-seq
MIRT1055288	hsa-miR-4781-3p	CLIP-seq
MIRT1055289	hsa-miR-483-5p	CLIP-seq
MIRT1055291	hsa-miR-548s	CLIP-seq
MIRT1055293	hsa-miR-588	CLIP-seq
MIRT2012659	hsa-miR-590-3p	CLIP-seq
MIRT1055295	hsa-miR-761	CLIP-seq
MIRT1055296	hsa-miR-922	CLIP-seq
MIRT1055260	hsa-miR-1234	CLIP-seq
MIRT1055267	hsa-miR-3187-3p	CLIP-seq
MIRT1055268	hsa-miR-320e	CLIP-seq
MIRT1055269	hsa-miR-3545-3p	CLIP-seq
MIRT1055272	hsa-miR-3663-5p	CLIP-seq
MIRT1055274	hsa-miR-3926	CLIP-seq
MIRT2245008	hsa-miR-3934	CLIP-seq
MIRT1055279	hsa-miR-4435	CLIP-seq
MIRT1055282	hsa-miR-4635	CLIP-seq
MIRT1055284	hsa-miR-4680-5p	CLIP-seq
MIRT1055285	hsa-miR-4701-5p	CLIP-seq
MIRT2012657	hsa-miR-4735-5p	CLIP-seq
MIRT2012658	hsa-miR-4775	CLIP-seq
MIRT1055288	hsa-miR-4781-3p	CLIP-seq
MIRT1055290	hsa-miR-5095	CLIP-seq
MIRT1055291	hsa-miR-548s	CLIP-seq
MIRT1055293	hsa-miR-588	CLIP-seq
MIRT2012659	hsa-miR-590-3p	CLIP-seq
MIRT1055261	hsa-miR-1264	CLIP-seq
MIRT1055262	hsa-miR-1267	CLIP-seq
MIRT1055271	hsa-miR-3622a-5p	CLIP-seq
MIRT1055273	hsa-miR-3664-5p	CLIP-seq
MIRT1055275	hsa-miR-4269	CLIP-seq
MIRT1055278	hsa-miR-4423-5p	CLIP-seq
MIRT1055280	hsa-miR-4438	CLIP-seq
MIRT1055283	hsa-miR-4639-3p	CLIP-seq
MIRT1055290	hsa-miR-5095	CLIP-seq
MIRT2547871	hsa-miR-106a	CLIP-seq
MIRT2547872	hsa-miR-106b	CLIP-seq
MIRT2012655	hsa-miR-1224-3p	CLIP-seq
MIRT2547873	hsa-miR-150	CLIP-seq
MIRT2547874	hsa-miR-17	CLIP-seq
MIRT2547875	hsa-miR-20a	CLIP-seq
MIRT2547876	hsa-miR-20b	CLIP-seq
MIRT1055264	hsa-miR-214	CLIP-seq
MIRT2547877	hsa-miR-302a	CLIP-seq
MIRT2547878	hsa-miR-302b	CLIP-seq
MIRT2547879	hsa-miR-302c	CLIP-seq
MIRT2547880	hsa-miR-302d	CLIP-seq
MIRT2547881	hsa-miR-302e	CLIP-seq
MIRT1055266	hsa-miR-3149	CLIP-seq
MIRT1055267	hsa-miR-3187-3p	CLIP-seq
MIRT1055268	hsa-miR-320e	CLIP-seq
MIRT1055269	hsa-miR-3545-3p	CLIP-seq
MIRT1055270	hsa-miR-3619-5p	CLIP-seq
MIRT1055271	hsa-miR-3622a-5p	CLIP-seq
MIRT1055272	hsa-miR-3663-5p	CLIP-seq
MIRT2547882	hsa-miR-372	CLIP-seq
MIRT2547883	hsa-miR-373	CLIP-seq
MIRT1055274	hsa-miR-3926	CLIP-seq
MIRT2245008	hsa-miR-3934	CLIP-seq
MIRT1055275	hsa-miR-4269	CLIP-seq
MIRT1055277	hsa-miR-4291	CLIP-seq
MIRT1055279	hsa-miR-4435	CLIP-seq
MIRT1055280	hsa-miR-4438	CLIP-seq
MIRT1055282	hsa-miR-4635	CLIP-seq
MIRT1055284	hsa-miR-4680-5p	CLIP-seq
MIRT1055285	hsa-miR-4701-5p	CLIP-seq
MIRT2547884	hsa-miR-4731-5p	CLIP-seq
MIRT2012657	hsa-miR-4735-5p	CLIP-seq
MIRT2012658	hsa-miR-4775	CLIP-seq
MIRT1055288	hsa-miR-4781-3p	CLIP-seq
MIRT1055289	hsa-miR-483-5p	CLIP-seq
MIRT1055290	hsa-miR-5095	CLIP-seq
MIRT2547885	hsa-miR-512-3p	CLIP-seq
MIRT2547886	hsa-miR-519d	CLIP-seq
MIRT2547887	hsa-miR-520a-3p	CLIP-seq
MIRT2547888	hsa-miR-520b	CLIP-seq
MIRT2547889	hsa-miR-520c-3p	CLIP-seq
MIRT2547890	hsa-miR-520d-3p	CLIP-seq
MIRT2547891	hsa-miR-520e	CLIP-seq
MIRT2547892	hsa-miR-520g	CLIP-seq
MIRT2547893	hsa-miR-520h	CLIP-seq
MIRT1055291	hsa-miR-548s	CLIP-seq
MIRT2547894	hsa-miR-552	CLIP-seq
MIRT1055293	hsa-miR-588	CLIP-seq
MIRT2012659	hsa-miR-590-3p	CLIP-seq
MIRT1055295	hsa-miR-761	CLIP-seq
MIRT1055296	hsa-miR-922	CLIP-seq
MIRT2547895	hsa-miR-93	CLIP-seq
MIRT1055264	hsa-miR-214	CLIP-seq
MIRT1055266	hsa-miR-3149	CLIP-seq
MIRT1055267	hsa-miR-3187-3p	CLIP-seq
MIRT1055268	hsa-miR-320e	CLIP-seq
MIRT1055269	hsa-miR-3545-3p	CLIP-seq
MIRT1055270	hsa-miR-3619-5p	CLIP-seq
MIRT1055271	hsa-miR-3622a-5p	CLIP-seq
MIRT1055272	hsa-miR-3663-5p	CLIP-seq
MIRT1055274	hsa-miR-3926	CLIP-seq
MIRT1055275	hsa-miR-4269	CLIP-seq
MIRT1055277	hsa-miR-4291	CLIP-seq
MIRT1055279	hsa-miR-4435	CLIP-seq
MIRT1055280	hsa-miR-4438	CLIP-seq
MIRT1055282	hsa-miR-4635	CLIP-seq
MIRT1055284	hsa-miR-4680-5p	CLIP-seq
MIRT1055285	hsa-miR-4701-5p	CLIP-seq
MIRT2012657	hsa-miR-4735-5p	CLIP-seq
MIRT2012658	hsa-miR-4775	CLIP-seq
MIRT1055288	hsa-miR-4781-3p	CLIP-seq
MIRT1055289	hsa-miR-483-5p	CLIP-seq
MIRT1055290	hsa-miR-5095	CLIP-seq
MIRT1055291	hsa-miR-548s	CLIP-seq
MIRT1055293	hsa-miR-588	CLIP-seq
MIRT2012659	hsa-miR-590-3p	CLIP-seq
MIRT1055295	hsa-miR-761	CLIP-seq
MIRT1055296	hsa-miR-922	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001671	Function	ATPase activator activity	IEA
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	20668094, 23940031, 24606901, 25416956, 26749241, 28380382, 29309586, 31515488
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	20668094
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	20668094
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	12938016
GO:0005829	Component	Cytosol	IDA
GO:0016226	Process	Iron-sulfur cluster assembly	IMP	20668094
GO:0042802	Function	Identical protein binding	IPI	24606901
GO:0044571	Process	[2Fe-2S] cluster assembly	IBA
GO:0044571	Process	[2Fe-2S] cluster assembly	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051087	Function	Protein-folding chaperone binding	IEA
GO:0051259	Process	Protein complex oligomerization	IEA
GO:0060215	Process	Primitive hemopoiesis	ISS
GO:0060319	Process	Primitive erythrocyte differentiation	ISS

MIM	HGNC	e!Ensembl
608142	28913	ENSG00000100209

Q8IWL3

Protein name

Iron-sulfur cluster co-chaperone protein HscB (DnaJ homolog subfamily C member 20) [Cleaved into: Iron-sulfur cluster co-chaperone protein HscB, cytoplasmic (C-HSC20); Iron-sulfur cluster co-chaperone protein HscB, mitochondrial]

Protein function

[Iron-sulfur cluster co-chaperone protein HscB, mitochondrial]: Acts as a co-chaperone in iron-sulfur cluster assembly in mitochondria (PubMed:20668094). Required for incorporation of iron-sulfur clusters into SDHB, the iron-sulfur protein subun

PDB

3BVO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18256	HscB_4_cys	39 → 65	Co-chaperone HscB tetracysteine metal binding motif	Domain
PF07743	HSCB_C	157 → 229	HSCB C-terminal oligomerisation domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in lung, brain, stomach, spleen, ovary, testis, liver, muscle and heart. {ECO:0000269|PubMed:12938016, ECO:0000269|PubMed:20668094}.

Sequence

MWRGRAGALLRVWGFWPTGVPRRRPLSCDAASQAGSNYPRCWNCGGPWGPGREDRFFCPQ
CRALQAPDPTRDYFSLMDCNRSFRVDTAKLQHRYQQLQRLVHPDFFSQRSQTEKDFSEKH
STLVNDAYKTLLAPLSRGLYLLKLHGIEIPERTDYEMDRQFLIEIMEINEKLAEAESEAA
MKEIESIVKAKQKEFTDNVSSAFEQDDFEEAKEILTKMRYFSNIEEKIKLKKIPL

Sequence length

235

Interactions

View interactions

	Reactome
			Mitochondrial protein import Mitochondrial iron-sulfur cluster biogenesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Anemia, sideroblastic, 5	Pathogenic	rs773607816, rs551244874	RCV001684647 RCV001684648	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL RENAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Anemia Sideroblastic	Associate	38360212	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	31101846	★★★★★ ★☆☆☆☆ Found in Text Mining only

HSCB (HscB mitochondrial iron-sulfur cluster cochaperone)