HSPB9

Summary

HSPB9 (heat shock protein family B (small) member 9, HGNC:30589) is a protein-coding gene on chromosome 17q21.2, encoding Heat shock protein beta-9 (Q9BQS6).

Located in cytosol and nucleoplasm.

Source: NCBI Gene 94086 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 27 total
• MANE Select transcript: NM_033194

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30589
Approved symbol	HSPB9
Name	heat shock protein family B (small) member 9
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Aliases	CT51
Ensembl gene	ENSG00000260325
Ensembl biotype	protein_coding
OMIM	608344
Entrez	94086

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000565659

RefSeq mRNA: 1 — MANE Select: NM_033194 NM_033194

CCDS: CCDS11418

Canonical transcript exons

ENST00000565659 — 1 exons

Exon	Start	End
ENSE00002601835	42122804	42123352

Expression profiles

Bgee: expression breadth ubiquitous, 152 present calls, max score 91.80.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0837 / max 77.5866, expressed in 6 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
160917	0.0528	6
160916	0.0309	3

Top tissues by expression

249 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	91.80	gold quality
right testis	UBERON:0004534	90.59	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.93	gold quality
testis	UBERON:0000473	88.30	gold quality
right lobe of liver	UBERON:0001114	79.75	gold quality
sperm	CL:0000019	74.29	silver quality
liver	UBERON:0002107	71.48	gold quality
adult organism	UBERON:0007023	71.39	gold quality
body of pancreas	UBERON:0001150	68.63	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	66.95	gold quality
pancreas	UBERON:0001264	62.23	gold quality
oocyte	CL:0000023	60.66	silver quality
pericardium	UBERON:0002407	60.05	gold quality
left ovary	UBERON:0002119	58.89	gold quality
adenohypophysis	UBERON:0002196	58.75	gold quality
right ovary	UBERON:0002118	58.19	gold quality
pituitary gland	UBERON:0000007	58.15	gold quality
parotid gland	UBERON:0001831	57.82	gold quality
biceps brachii	UBERON:0001507	57.60	gold quality
body of stomach	UBERON:0001161	57.52	gold quality
adult mammalian kidney	UBERON:0000082	57.45	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	57.09	gold quality
hindlimb stylopod muscle	UBERON:0004252	56.97	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	56.21	gold quality
nucleus accumbens	UBERON:0001882	56.20	gold quality
lower esophagus	UBERON:0013473	56.13	gold quality
lower esophagus muscularis layer	UBERON:0035833	56.09	gold quality
ovary	UBERON:0000992	56.08	gold quality
nasal cavity epithelium	UBERON:0005384	56.02	gold quality
fundus of stomach	UBERON:0001160	55.97	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.09

Regulation

Is transcription factor: no

Cross-species orthologs

22 orthologs

Organism	Symbol	Gene ID
danio_rerio	hspb9l	ENSDARG00000002204
danio_rerio	hspb9	ENSDARG00000078674
mus_musculus	Hspb9	ENSMUSG00000017832
rattus_norvegicus	Hspb9	ENSRNOG00000036819
drosophila_melanogaster	Hsp22	FBGN0001223
drosophila_melanogaster	Hsp23	FBGN0001224
drosophila_melanogaster	Hsp26	FBGN0001225
drosophila_melanogaster	Hsp67Ba	FBGN0001227
drosophila_melanogaster	Hsp67Bc	FBGN0001229
drosophila_melanogaster	l(2)efl	FBGN0011296
drosophila_melanogaster	CG14207	FBGN0031037
caenorhabditis_elegans		WBGENE00002011
caenorhabditis_elegans		WBGENE00002015
caenorhabditis_elegans		WBGENE00002016
caenorhabditis_elegans		WBGENE00002017
caenorhabditis_elegans		WBGENE00002018
caenorhabditis_elegans		WBGENE00002019
caenorhabditis_elegans		WBGENE00002020
caenorhabditis_elegans		WBGENE00002023
caenorhabditis_elegans		WBGENE00008591
caenorhabditis_elegans		WBGENE00008592
caenorhabditis_elegans	hsp-12.1	WBGENE00011906

Paralogs (8): HSPB6 (ENSG00000004776), HSPB1 (ENSG00000106211), CRYAB (ENSG00000109846), HSPB8 (ENSG00000152137), CRYAA (ENSG00000160202), HSPB3 (ENSG00000169271), HSPB2 (ENSG00000170276), HSPB7 (ENSG00000173641)

Protein

Protein identifiers

Heat shock protein beta-9 — Q9BQS6 (reviewed: Q9BQS6)

Alternative names: Cancer/testis antigen 51, Heat shock protein family B member 9

All UniProt accessions (1): Q9BQS6

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Testis specific.

Similarity. Belongs to the small heat shock protein (HSP20) family.

RefSeq proteins (1): NP_149971* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002068	A-crystallin/Hsp20_dom	Domain
IPR008978	HSP20-like_chaperone	Homologous_superfamily
IPR042940	HSPB9	Family

Pfam: PF00011

UniProt features (3 total): chain 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BQS6-F1	74.10	0.33

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 36 (showing top): TGCGCANK_UNKNOWN, WEBER_METHYLATED_HCP_IN_SPERM_UP, EGR1_01, WEBER_METHYLATED_HCP_IN_FIBROBLAST_DN, ACTWSNACTNY_UNKNOWN, TCCCRNNRTGC_UNKNOWN, HATADA_METHYLATED_IN_LUNG_CANCER_UP, HSF2_TARGET_GENES, PPARGC1A_TARGET_GENES, SQSTM1_TARGET_GENES, WDHD1_TARGET_GENES, ZNF596_TARGET_GENES, ZZZ3_TARGET_GENES, ZNF740_TARGET_GENES, ADA2_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

614 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HSPB9	HSPB7	Q9UBY9	787
HSPB9	ODF1	Q14990	720
HSPB9	CRYAA	P02489	696
HSPB9	HSPB2	Q16082	690
HSPB9	HSPB6	O14558	685
HSPB9	HSPB8	Q9UJY1	683
HSPB9	DNAJC8	O75937	676
HSPB9	HSPB3	Q12988	649
HSPB9	CRYAB	P02511	570
HSPB9	DNAJC18	Q9H819	527
HSPB9	OAZ3	Q9UMX2	506
HSPB9	HSPB1	P04792	458
HSPB9	DNAJB1	P25685	439
HSPB9	CRYBA1	P05813	430
HSPB9	IFT25	Q9Y547	424

IntAct

10 interactions, top by confidence:

A	B	Type	Score
HSPB9	USP12	psi-mi:“MI:0914”(association)	0.530
HSPB9	DYNLT1	psi-mi:“MI:0915”(physical association)	0.510
DYNLT1	HSPB9	psi-mi:“MI:0915”(physical association)	0.510
CTCF	HSPB9	psi-mi:“MI:0915”(physical association)	0.370
HSPB9	NUDT5	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (30): NCKAP1 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), PARS2 (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS), CYFIP2 (Affinity Capture-MS), ISCA1 (Affinity Capture-MS), ITFG2 (Affinity Capture-MS), FBXW5 (Affinity Capture-MS), KPTN (Affinity Capture-MS), FBXW5 (Affinity Capture-MS), ISCA1 (Affinity Capture-MS), ZNF507 (Affinity Capture-MS), KPTN (Affinity Capture-MS), ITFG2 (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS)

ESM2 similar proteins: A2ARM1, C9JE40, O08623, P02515, P02517, P02518, P12812, P30218, P30219, P42931, Q04757, Q12988, Q13501, Q1LVK9, Q2KHU9, Q2TBQ6, Q3ULW6, Q3UP38, Q5EAC9, Q5EB20, Q5PQS0, Q5R8S0, Q5RAB0, Q5RBA5, Q5SXA9, Q5T124, Q5U3H9, Q64337, Q6NXJ0, Q6SJQ8, Q6ZUJ8, Q80VH0, Q8K1S6, Q8MJ36, Q8N163, Q8VDP4, Q8WWL2, Q9BQS6, Q9BSW2, Q9D2Q3

Diamond homologs: O14558, O93591, P02510, P02511, P02512, P05811, P23927, P23928, P41316, P97541, Q148F8, Q2TBQ6, Q5EBG6, Q5R9K0, Q60HG8, Q7M2W6, Q9BQS6, Q9DAM3, P02470, P02474, P02475, P02476, P02477, P02478, P02479, P02482, P02488, P02489, P02492, P02493, P02494, P02498, P02509, P42931, P68281, P68283, P68284, P68285, P82531, Q5ENZ0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

27 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

37 predictions. Top by Δscore:

Variant	Effect	Δscore
17:42123119:C:T	acceptor_gain	0.9600
17:42123107:ACGTC:A	acceptor_gain	0.8300
17:42123119:C:CT	acceptor_gain	0.8200
17:42123120:G:T	acceptor_gain	0.8200
17:42123111:C:CT	acceptor_gain	0.7800
17:42123116:ACCCG:A	acceptor_gain	0.7200
17:42123103:C:CC	acceptor_gain	0.6200
17:42123313:TCCA:T	donor_gain	0.6000
17:42123102:A:C	acceptor_gain	0.5800
17:42123104:TGGAC:T	acceptor_gain	0.5800
17:42123105:GGACG:G	acceptor_gain	0.5800
17:42123115:GACCC:G	acceptor_gain	0.5800
17:42123117:CCCGG:C	acceptor_gain	0.5600
17:42123108:C:A	acceptor_gain	0.5400
17:42123108:C:CT	acceptor_gain	0.5200
17:42123106:G:GA	acceptor_gain	0.5000
17:42123109:GTC:G	acceptor_gain	0.5000
17:42123111:C:A	acceptor_gain	0.4800
17:42123118:C:A	acceptor_gain	0.4400
17:42123110:T:A	acceptor_gain	0.4200
17:42122880:C:CA	acceptor_gain	0.3700
17:42122880:CG:C	acceptor_gain	0.3400
17:42122881:G:GC	acceptor_gain	0.3200
17:42123320:TG:T	donor_gain	0.3200
17:42122866:A:AC	donor_gain	0.3100
17:42123090:C:CT	acceptor_gain	0.3000
17:42123100:CAA:C	acceptor_gain	0.3000
17:42122844:G:T	donor_gain	0.2800
17:42123112:A:T	acceptor_gain	0.2800
17:42123316:A:AT	donor_gain	0.2800

AlphaMissense

1029 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:42123037:T:C	F63L	0.984
17:42123039:C:A	F63L	0.984
17:42123039:C:G	F63L	0.984
17:42123010:T:C	F54L	0.965
17:42123012:C:A	F54L	0.965
17:42123012:C:G	F54L	0.965
17:42123038:T:C	F63S	0.948
17:42123038:T:G	F63C	0.905
17:42123011:T:C	F54S	0.889
17:42123218:G:T	G123V	0.872
17:42123230:T:A	V127D	0.866
17:42123199:T:C	C117R	0.861
17:42123053:T:A	L68Q	0.849
17:42123037:T:G	F63V	0.843
17:42123053:T:C	L68P	0.840
17:42123059:T:A	V70E	0.839
17:42123011:T:G	F54C	0.832
17:42123037:T:A	F63I	0.831
17:42123224:T:A	L125Q	0.809
17:42123201:C:G	C117W	0.787
17:42123080:T:C	L77P	0.784
17:42123217:G:T	G123W	0.784
17:42123029:C:A	A60D	0.774
17:42123053:T:G	L68R	0.773
17:42123071:G:T	G74V	0.763
17:42123224:T:C	L125P	0.761
17:42123092:G:A	G81E	0.749
17:42123021:G:C	K57N	0.735
17:42123021:G:T	K57N	0.735
17:42123167:T:A	L106H	0.726

dbSNP variants (sampled 300 via entrez): RS1001558565 (17:42120961 C>T), RS1002580833 (17:42122337 C>G,T), RS1002779150 (17:42122036 C>A), RS1005972700 (17:42121982 C>T), RS1006339474 (17:42121655 A>C,G), RS1011804686 (17:42121269 C>G,T), RS1012840080 (17:42122391 A>G), RS1014980537 (17:42121994 C>T), RS1021478296 (17:42122066 G>A,T), RS1023816891 (17:42123462 C>T), RS1028251504 (17:42122852 T>C), RS1028388811 (17:42123121 G>T), RS1028590145 (17:42121343 C>A,T), RS1028727461 (17:42121637 A>T), RS1031777949 (17:42122514 T>C,G)

Disease associations

OMIM: gene MIM:608344 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004785_17	Vitiligo	7.000000e-10
GCST005195_68	Coronary artery disease	7.000000e-09
GCST90002393_522	Monocyte count	9.000000e-14

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005091	monocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
pirinixic acid	increases expression, affects binding, increases activity	1
testosterone undecanoate	increases expression	1
licochalcone B	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1
Silver Nitrate	increases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	decreases expression	1
Sodium Selenite	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.