HSCB (HscB mitochondrial iron-sulfur cluster cochaperone) - Rat Genome Database

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Gene: HSCB (HscB mitochondrial iron-sulfur cluster cochaperone) Homo sapiens
Analyze
Symbol: HSCB
Name: HscB mitochondrial iron-sulfur cluster cochaperone
RGD ID: 1602295
HGNC Page HGNC:28913
Description: Enables identical protein binding activity. Involved in iron-sulfur cluster assembly. Located in cytosol; mitochondrion; and nucleoplasm. Implicated in sideroblastic anemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: dJ366L4.2; DnaJ (Hsp40) homolog, subfamily C, member 20; dnaJ homolog subfamily C member 20; DNAJC20; HSC20; HscB iron-sulfur cluster co-chaperone homolog; HscB mitochondrial iron-sulfur cluster co-chaperone; iron-sulfur cluster co-chaperone protein HscB; iron-sulfur cluster co-chaperone protein HscB, mitochondrial; J-type co-chaperone HSC20; JAC1; MGC2637; MGC74462; SIDBA5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382228,742,032 - 28,757,510 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2228,742,039 - 28,757,515 (+)EnsemblGRCh38hg38GRCh38
GRCh372229,138,020 - 29,153,498 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362227,468,043 - 27,483,498 (+)NCBINCBI36Build 36hg18NCBI36
Celera2212,938,022 - 12,953,467 (+)NCBICelera
Cytogenetic Map22q12.1NCBI
HuRef2212,103,229 - 12,118,689 (+)NCBIHuRef
CHM1_12229,097,104 - 29,112,531 (+)NCBICHM1_1
T2T-CHM13v2.02229,203,667 - 29,219,144 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (IDA)
mitochondrion  (HTP,IBA,IDA,IEA,TAS)
nucleoplasm  (IDA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19.
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10591208   PMID:12477932   PMID:12938016   PMID:15461802   PMID:15489334   PMID:16952052   PMID:18000879   PMID:18713742   PMID:20668094   PMID:20729852   PMID:20877624   PMID:21873635  
PMID:23940031   PMID:24573684   PMID:24606901   PMID:25086665   PMID:25416956   PMID:26496610   PMID:26749241   PMID:27714045   PMID:28380382   PMID:28700943   PMID:29211945   PMID:29309586  
PMID:30033366   PMID:31515488   PMID:33957083   PMID:34083449   PMID:34373451   PMID:34800366   PMID:37871810   PMID:38757931  


Genomics

Comparative Map Data
HSCB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382228,742,032 - 28,757,510 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2228,742,039 - 28,757,515 (+)EnsemblGRCh38hg38GRCh38
GRCh372229,138,020 - 29,153,498 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362227,468,043 - 27,483,498 (+)NCBINCBI36Build 36hg18NCBI36
Celera2212,938,022 - 12,953,467 (+)NCBICelera
Cytogenetic Map22q12.1NCBI
HuRef2212,103,229 - 12,118,689 (+)NCBIHuRef
CHM1_12229,097,104 - 29,112,531 (+)NCBICHM1_1
T2T-CHM13v2.02229,203,667 - 29,219,144 (+)NCBIT2T-CHM13v2.0
Hscb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395110,976,945 - 110,987,647 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5110,976,936 - 110,987,643 (-)EnsemblGRCm39 Ensembl
GRCm385110,829,070 - 110,839,793 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5110,829,070 - 110,839,777 (-)EnsemblGRCm38mm10GRCm38
MGSCv375111,258,089 - 111,268,796 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365111,069,372 - 111,080,043 (-)NCBIMGSCv36mm8
Celera5107,960,954 - 107,971,868 (-)NCBICelera
Cytogenetic Map5FNCBI
cM Map553.72NCBI
Hscb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81251,481,318 - 51,491,689 (+)NCBIGRCr8
mRatBN7.21245,821,527 - 45,831,902 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1245,821,555 - 45,831,909 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1246,997,274 - 47,007,298 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01247,603,008 - 47,613,025 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01246,663,530 - 46,673,548 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01251,878,267 - 51,888,645 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1251,878,153 - 51,888,669 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01253,616,638 - 53,626,996 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41245,966,103 - 45,976,448 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11245,829,995 - 45,840,566 (+)NCBI
Celera1247,381,162 - 47,391,328 (+)NCBICelera
Cytogenetic Map12q16NCBI
Hscb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554553,005,617 - 3,013,393 (+)NCBIChiLan1.0ChiLan1.0
HSCB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22338,740,457 - 38,755,995 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12241,439,553 - 41,454,803 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0229,811,294 - 9,826,245 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12227,512,557 - 27,528,198 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2227,512,564 - 27,527,914 (+)Ensemblpanpan1.1panPan2
HSCB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12622,103,803 - 22,120,200 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2622,103,845 - 22,120,198 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2621,975,398 - 21,991,803 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02622,476,999 - 22,493,407 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2622,477,046 - 22,493,422 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12622,187,261 - 22,203,642 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02622,450,893 - 22,467,277 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02622,513,309 - 22,529,793 (+)NCBIUU_Cfam_GSD_1.0
Hscb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118113,010,592 - 113,022,431 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049366572,848,282 - 2,860,115 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HSCB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1445,967,502 - 45,980,622 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11445,967,460 - 45,980,632 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HSCB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11911,621,205 - 11,639,750 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1911,621,420 - 11,636,396 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045114,517,448 - 114,532,613 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hscb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247475,072,708 - 5,094,404 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HSCB
15 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3 copy number gain See cases [RCV000050553] Chr22:26979579..33992220 [GRCh38]
Chr22:27375542..34388209 [GRCh37]
Chr22:25705542..32718209 [NCBI36]
Chr22:22q12.1-12.3		 pathogenic
GRCh38/hg38 22q12.1(chr22:27557778-28988149)x3 copy number gain See cases [RCV000052852] Chr22:27557778..28988149 [GRCh38]
Chr22:27953739..29384137 [GRCh37]
Chr22:26283739..27714137 [NCBI36]
Chr22:22q12.1		 uncertain significance
GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1 copy number loss See cases [RCV000052869] Chr22:26221273..29477543 [GRCh38]
Chr22:26617239..29873532 [GRCh37]
Chr22:24947239..28203532 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:28278805-31742328)x1 copy number loss See cases [RCV000052870] Chr22:28278805..31742328 [GRCh38]
Chr22:28674793..32138314 [GRCh37]
Chr22:27004793..30468314 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1 copy number loss See cases [RCV000052871] Chr22:28441035..30276511 [GRCh38]
Chr22:28837023..30672500 [GRCh37]
Chr22:27167023..29002500 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
NM_172002.5(HSCB):c.242G>A (p.Arg81His) single nucleotide variant not specified [RCV004262430] Chr22:28743887 [GRCh38]
Chr22:29139875 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q12.1(chr22:27972484-28760350)x1 copy number loss See cases [RCV000135356] Chr22:27972484..28760350 [GRCh38]
Chr22:28368472..29156338 [GRCh37]
Chr22:26698472..27486338 [NCBI36]
Chr22:22q12.1		 pathogenic
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q12.1(chr22:28441053-28819615)x3 copy number gain See cases [RCV000139107] Chr22:28441053..28819615 [GRCh38]
Chr22:28837041..29215603 [GRCh37]
Chr22:27167041..27545603 [NCBI36]
Chr22:22q12.1		 likely benign
GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1 copy number loss See cases [RCV000143415] Chr22:26451042..31451926 [GRCh38]
Chr22:26847008..31847912 [GRCh37]
Chr22:25177008..30177912 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3 copy number gain See cases [RCV000510523] Chr22:28349854..33013062 [GRCh37]
Chr22:22q12.1-12.3		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3		 pathogenic
NM_172002.5(HSCB):c.703C>T (p.Leu235Phe) single nucleotide variant not specified [RCV004286501] Chr22:28757164 [GRCh38]
Chr22:29153152 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_172002.5(HSCB):c.14G>C (p.Arg5Thr) single nucleotide variant not specified [RCV004291311] Chr22:28742109 [GRCh38]
Chr22:29138097 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.1(chr22:29115517-29152791)x1 copy number loss See cases [RCV000512465] Chr22:29115517..29152791 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_172002.5(HSCB):c.-37C>T single nucleotide variant not provided [RCV000986214] Chr22:28742059 [GRCh38]
Chr22:29138047 [GRCh37]
Chr22:22q12.1		 likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_172002.5(HSCB):c.259dup (p.Thr87fs) duplication Anemia, sideroblastic, 5 [RCV001684647] Chr22:28743903..28743904 [GRCh38]
Chr22:29139891..29139892 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.2(CHEK2):c.-200C>T single nucleotide variant Anemia, sideroblastic, 5 [RCV001684648] Chr22:28741962 [GRCh38]
Chr22:29137950 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29083875)_(30090801_?)del deletion Familial cancer of breast [RCV001033149] Chr22:29083875..30090801 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NM_172002.5(HSCB):c.13A>G (p.Arg5Gly) single nucleotide variant not provided [RCV000986215] Chr22:28742108 [GRCh38]
Chr22:29138096 [GRCh37]
Chr22:22q12.1		 likely benign
NC_000022.10:g.(?_29083885)_(29621477_?)del deletion Familial cancer of breast [RCV001033041] Chr22:29083885..29621477 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)x1 copy number loss not provided [RCV001258778] Chr22:28291202..30450920 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.10:g.(?_29082731)_(29138822_?)del deletion Familial cancer of breast [RCV001380216] Chr22:29082731..29138822 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29083885)_(30337586_?)del deletion Neurofibromatosis, type 2 [RCV001390044] Chr22:29083885..30337586 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NC_000022.10:g.(?_29105984)_(30337586_?)del deletion Familial cancer of breast [RCV001390747] Chr22:29105984..30337586 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
GRCh37/hg19 22q12.1(chr22:29115517-29146612) copy number loss not specified [RCV002052747] Chr22:29115517..29146612 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29130713)_(30000111_?)del deletion Neurofibromatosis, type 2 [RCV001982188] Chr22:29130713..30000111 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NC_000022.10:g.(?_29083885)_(34046674_?)dup duplication not provided [RCV001979643] Chr22:29083885..34046674 [GRCh37]
Chr22:22q12.1-12.3		 uncertain significance
NC_000022.10:g.(?_29130452)_(29160933_?)del deletion Familial cancer of breast [RCV003109620] Chr22:29130452..29160933 [GRCh37]
Chr22:22q12.1		 pathogenic
GRCh37/hg19 22q12.1-12.2(chr22:26614429-29847680)x1 copy number loss not provided [RCV002472563] Chr22:26614429..29847680 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NM_172002.5(HSCB):c.677A>G (p.Glu226Gly) single nucleotide variant not specified [RCV004237377] Chr22:28757138 [GRCh38]
Chr22:29153126 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_172002.5(HSCB):c.188C>T (p.Ala63Val) single nucleotide variant not specified [RCV004154275] Chr22:28742283 [GRCh38]
Chr22:29138271 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_172002.5(HSCB):c.68G>A (p.Arg23Lys) single nucleotide variant not specified [RCV004111365] Chr22:28742163 [GRCh38]
Chr22:29138151 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_172002.5(HSCB):c.604G>A (p.Ala202Thr) single nucleotide variant not specified [RCV004080850] Chr22:28751276 [GRCh38]
Chr22:29147264 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_172002.5(HSCB):c.682A>G (p.Ile228Val) single nucleotide variant not specified [RCV004320785] Chr22:28757143 [GRCh38]
Chr22:29153131 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_172002.5(HSCB):c.654G>T (p.Met218Ile) single nucleotide variant not specified [RCV004275596] Chr22:28757115 [GRCh38]
Chr22:29153103 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_172002.5(HSCB):c.559A>G (p.Ile187Val) single nucleotide variant not specified [RCV004278834] Chr22:28745999 [GRCh38]
Chr22:29141987 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_172002.5(HSCB):c.194A>G (p.Gln65Arg) single nucleotide variant not specified [RCV004363644] Chr22:28742289 [GRCh38]
Chr22:29138277 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_172002.5(HSCB):c.389C>A (p.Thr130Asn) single nucleotide variant not specified [RCV004404419] Chr22:28744670 [GRCh38]
Chr22:29140658 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_172002.5(HSCB):c.517G>A (p.Ala173Thr) single nucleotide variant not specified [RCV004404420] Chr22:28745957 [GRCh38]
Chr22:29141945 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_172002.5(HSCB):c.650A>G (p.Lys217Arg) single nucleotide variant not specified [RCV004404421] Chr22:28757111 [GRCh38]
Chr22:29153099 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_172002.5(HSCB):c.656G>C (p.Arg219Thr) single nucleotide variant not specified [RCV004404422] Chr22:28757117 [GRCh38]
Chr22:29153105 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_172002.5(HSCB):c.296G>A (p.Arg99His) single nucleotide variant not specified [RCV004633166] Chr22:28743941 [GRCh38]
Chr22:29139929 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29083885)_(30090791_?)del deletion Neurofibromatosis, type 2 [RCV004582379] Chr22:29083885..30090791 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NM_172002.5(HSCB):c.121T>C (p.Cys41Arg) single nucleotide variant not specified [RCV004633168] Chr22:28742216 [GRCh38]
Chr22:29138204 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_172002.5(HSCB):c.684C>G (p.Ile228Met) single nucleotide variant not specified [RCV004633167] Chr22:28757145 [GRCh38]
Chr22:29153133 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_172002.5(HSCB):c.322C>G (p.Gln108Glu) single nucleotide variant not specified [RCV004344309] Chr22:28743967 [GRCh38]
Chr22:29139955 [GRCh37]
Chr22:22q12.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:982
Count of miRNA genes:415
Interacting mature miRNAs:453
Transcripts:ENST00000216027, ENST00000398941, ENST00000420442, ENST00000450178, ENST00000483861, ENST00000485599, ENST00000495977
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
407341123GWAS990099_Hclear cell renal carcinoma QTL GWAS990099 (human)1e-08clear cell renal carcinoma222875353028753531Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human
407003860GWAS652836_Hdiastolic blood pressure QTL GWAS652836 (human)0.000001diastolic blood pressurediastolic blood pressure (CMO:0000005)222875516228755163Human
407002949GWAS651925_Hsystolic blood pressure QTL GWAS651925 (human)0.0000003systolic blood pressuresystolic blood pressure (CMO:0000004)222875516228755163Human
407002923GWAS651899_Hsystolic blood pressure QTL GWAS651899 (human)3e-08systolic blood pressuresystolic blood pressure (CMO:0000004)222875516228755163Human
406986904GWAS635880_Hmean corpuscular hemoglobin concentration QTL GWAS635880 (human)1e-18mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)222874698928746990Human
407003864GWAS652840_Hdiastolic blood pressure QTL GWAS652840 (human)0.000004diastolic blood pressurediastolic blood pressure (CMO:0000005)222875516228755163Human
407109016GWAS757992_Hheel bone mineral density QTL GWAS757992 (human)4e-09heel bone mineral densitybone mineral density (CMO:0001226)222875001428750015Human

Markers in Region
A009S23  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372229,147,022 - 29,147,240UniSTSGRCh37
Build 362227,477,022 - 27,477,240RGDNCBI36
Celera2212,946,992 - 12,947,210RGD
Cytogenetic Map22q12.1UniSTS
HuRef2212,112,215 - 12,112,433UniSTS
GeneMap99-GB4 RH Map2277.44UniSTS
NCBI RH Map22114.7UniSTS
stdJ366L4.X.6856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372229,143,757 - 29,143,879UniSTSGRCh37
Build 362227,473,757 - 27,473,879RGDNCBI36
Celera2212,943,735 - 12,943,857RGD
Cytogenetic Map22q12.1UniSTS
HuRef2212,108,942 - 12,109,064UniSTS
PMC111029P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372229,137,649 - 29,137,856UniSTSGRCh37
Build 362227,467,649 - 27,467,856RGDNCBI36
Celera2212,937,628 - 12,937,835RGD
Cytogenetic Map22q12.1UniSTS
HuRef2212,102,835 - 12,103,042UniSTS
RH17891  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372229,147,065 - 29,147,268UniSTSGRCh37
Build 362227,477,065 - 27,477,268RGDNCBI36
Celera2212,947,035 - 12,947,238RGD
Cytogenetic Map22q12.1UniSTS
HuRef2212,112,258 - 12,112,461UniSTS
GeneMap99-GB4 RH Map2271.87UniSTS
G32810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372229,147,022 - 29,147,240UniSTSGRCh37
Celera2212,946,992 - 12,947,210UniSTS
Cytogenetic Map22q12.1UniSTS
HuRef2212,112,215 - 12,112,433UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001318314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA804625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL023494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY191719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG696148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ054405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR979598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DW414316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY057929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000216027   ⟹   ENSP00000216027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2228,742,039 - 28,757,510 (+)Ensembl
Ensembl Acc Id: ENST00000398941   ⟹   ENSP00000381914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2228,742,055 - 28,757,515 (+)Ensembl
Ensembl Acc Id: ENST00000420442   ⟹   ENSP00000416679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2228,742,061 - 28,757,213 (+)Ensembl
Ensembl Acc Id: ENST00000450178   ⟹   ENSP00000406284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2228,742,042 - 28,757,510 (+)Ensembl
Ensembl Acc Id: ENST00000483861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2228,742,679 - 28,757,210 (+)Ensembl
Ensembl Acc Id: ENST00000485599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2228,742,151 - 28,745,543 (+)Ensembl
Ensembl Acc Id: ENST00000495977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2228,742,701 - 28,757,510 (+)Ensembl
RefSeq Acc Id: NM_001318314   ⟹   NP_001305243
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382228,742,039 - 28,757,510 (+)NCBI
CHM1_12229,097,081 - 29,112,539 (+)NCBI
T2T-CHM13v2.02229,203,674 - 29,219,144 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001318315   ⟹   NP_001305244
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382228,742,039 - 28,757,510 (+)NCBI
CHM1_12229,097,081 - 29,112,539 (+)NCBI
T2T-CHM13v2.02229,203,674 - 29,219,144 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001318316   ⟹   NP_001305245
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382228,742,681 - 28,757,510 (+)NCBI
CHM1_12229,097,729 - 29,112,539 (+)NCBI
T2T-CHM13v2.02229,204,316 - 29,219,144 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363856   ⟹   NP_001350785
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382228,742,032 - 28,746,049 (+)NCBI
T2T-CHM13v2.02229,203,667 - 29,207,685 (+)NCBI
Sequence:
RefSeq Acc Id: NM_172002   ⟹   NP_741999
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382228,742,039 - 28,757,510 (+)NCBI
GRCh372229,138,008 - 29,153,506 (+)NCBI
Build 362227,468,043 - 27,483,498 (+)NCBI Archive
Celera2212,938,022 - 12,953,467 (+)RGD
HuRef2212,103,229 - 12,118,689 (+)RGD
CHM1_12229,097,081 - 29,112,539 (+)NCBI
T2T-CHM13v2.02229,203,674 - 29,219,144 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134560
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382228,742,039 - 28,757,510 (+)NCBI
CHM1_12229,097,081 - 29,112,539 (+)NCBI
T2T-CHM13v2.02229,203,674 - 29,219,144 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005261359   ⟹   XP_005261416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382228,742,039 - 28,757,510 (+)NCBI
GRCh372229,138,008 - 29,153,506 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028620   ⟹   XP_016884109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382228,742,681 - 28,757,510 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054325129   ⟹   XP_054181104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02229,203,674 - 29,219,144 (+)NCBI
RefSeq Acc Id: XM_054325130   ⟹   XP_054181105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02229,204,316 - 29,219,144 (+)NCBI
RefSeq Acc Id: NP_741999   ⟸   NM_172002
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9BWS7 (UniProtKB/Swiss-Prot),   Q8IWL3 (UniProtKB/Swiss-Prot),   A0A384NYJ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005261416   ⟸   XM_005261359
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001305244   ⟸   NM_001318315
- Peptide Label: isoform 3 precursor
- UniProtKB: B0QYH2 (UniProtKB/TrEMBL),   A8MYY2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305243   ⟸   NM_001318314
- Peptide Label: isoform 2 precursor
- Sequence:
RefSeq Acc Id: NP_001305245   ⟸   NM_001318316
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: XP_016884109   ⟸   XM_017028620
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001350785   ⟸   NM_001363856
- Peptide Label: isoform 3 precursor
- UniProtKB: A8MYY2 (UniProtKB/TrEMBL),   B0QYH2 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000381914   ⟸   ENST00000398941
Ensembl Acc Id: ENSP00000406284   ⟸   ENST00000450178
Ensembl Acc Id: ENSP00000216027   ⟸   ENST00000216027
Ensembl Acc Id: ENSP00000416679   ⟸   ENST00000420442
RefSeq Acc Id: XP_054181104   ⟸   XM_054325129
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054181105   ⟸   XM_054325130
- Peptide Label: isoform X2
Protein Domains
Co-chaperone HscB C-terminal oligomerisation   HscB tetracysteine metal binding motif   J

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IWL3-F1-model_v2 AlphaFold Q8IWL3 1-235 view protein structure

Promoters
RGD ID:6799877
Promoter ID:HG_KWN:42196
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000398941,   OTTHUMT00000321263,   OTTHUMT00000321264,   OTTHUMT00000321266,   OTTHUMT00000321267,   OTTHUMT00000321268,   OTTHUMT00000321269
Position:
Human AssemblyChrPosition (strand)Source
Build 362227,467,951 - 27,468,451 (+)MPROMDB
RGD ID:13603590
Promoter ID:EPDNEW_H27980
Type:initiation region
Name:HSCB_1
Description:HscB mitochondrial iron-sulfur cluster cochaperone
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382228,742,039 - 28,742,099EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28913 AgrOrtholog
COSMIC HSCB COSMIC
Ensembl Genes ENSG00000100209 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000216027 ENTREZGENE
  ENST00000216027.8 UniProtKB/Swiss-Prot
  ENST00000398941 ENTREZGENE
  ENST00000398941.6 UniProtKB/TrEMBL
  ENST00000420442 ENTREZGENE
  ENST00000420442.5 UniProtKB/TrEMBL
  ENST00000450178 ENTREZGENE
  ENST00000450178.5 UniProtKB/TrEMBL
  ENST00000495977 ENTREZGENE
Gene3D-CATH 1.10.287.110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.1280.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100209 GTEx
HGNC ID HGNC:28913 ENTREZGENE
Human Proteome Map HSCB Human Proteome Map
InterPro HscB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HscB_4_cys UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HscB_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HscB_oligo_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  J_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:150274 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 150274 ENTREZGENE
OMIM 608142 OMIM
PANTHER IRON-SULFUR CLUSTER CO-CHAPERONE PROTEIN HSCB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HscB_4_cys UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSCB_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162391621 PharmGKB
Superfamily-SCOP SSF46565 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47144 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384NYJ4 ENTREZGENE, UniProtKB/TrEMBL
  A8MYY2 ENTREZGENE
  B0QYH2 ENTREZGENE, UniProtKB/TrEMBL
  F8WBY7_HUMAN UniProtKB/TrEMBL
  HSC20_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9BWS7 ENTREZGENE
UniProt Secondary A8MYY2 UniProtKB/TrEMBL
  Q9BWS7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 HSCB  HscB mitochondrial iron-sulfur cluster cochaperone    HscB mitochondrial iron-sulfur cluster co-chaperone  Symbol and/or name change 5135510 APPROVED
2013-09-17 HSCB  HscB mitochondrial iron-sulfur cluster co-chaperone    HscB iron-sulfur cluster co-chaperone homolog (E. coli)  Symbol and/or name change 5135510 APPROVED