SGTB

Summary

SGTB (small glutamine rich tetratricopeptide repeat co-chaperone beta, HGNC:23567) is a protein-coding gene on chromosome 5q12.3, encoding Small glutamine-rich tetratricopeptide repeat-containing protein beta (Q96EQ0). Co-chaperone that binds directly to HSC70 and HSP70 and regulates their ATPase activity.

Predicted to enable molecular adaptor activity. Predicted to be involved in post-translational protein targeting to endoplasmic reticulum membrane. Predicted to be part of TRC complex. Predicted to be active in membrane.

Source: NCBI Gene 54557 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 33 total
• MANE Select transcript: NM_019072

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23567
Approved symbol	SGTB
Name	small glutamine rich tetratricopeptide repeat co-chaperone beta
Location	5q12.3
Locus type	gene with protein product
Status	Approved
Aliases	Sgt2, FLJ39002
Ensembl gene	ENSG00000197860
Ensembl biotype	protein_coding
OMIM	620526
Entrez	54557

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000381007, ENST00000506816, ENST00000869787, ENST00000869788, ENST00000936204, ENST00000936205, ENST00000942048

RefSeq mRNA: 1 — MANE Select: NM_019072 NM_019072

CCDS: CCDS3988

Canonical transcript exons

ENST00000381007 — 11 exons

Exon	Start	End
ENSE00000749513	65671915	65671998
ENSE00000749581	65672244	65672281
ENSE00000837122	65680494	65680556
ENSE00000971533	65685368	65685472
ENSE00001013017	65704279	65704378
ENSE00001013019	65708489	65708558
ENSE00001013021	65712961	65713064
ENSE00001013023	65680656	65680794
ENSE00001013026	65720708	65720829
ENSE00001487204	65665928	65670357
ENSE00001487215	65721917	65722109

Expression profiles

Bgee: expression breadth ubiquitous, 245 present calls, max score 99.47.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.4550 / max 354.0304, expressed in 1764 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61954	20.9189	1748
61953	1.8438	672
61955	0.4423	170
61956	0.2499	90

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.47	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.91	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.59	gold quality
pons	UBERON:0000988	96.51	gold quality
substantia nigra pars compacta	UBERON:0001965	95.65	gold quality
superior frontal gyrus	UBERON:0002661	95.03	gold quality
substantia nigra pars reticulata	UBERON:0001966	94.50	gold quality
middle temporal gyrus	UBERON:0002771	94.43	gold quality
postcentral gyrus	UBERON:0002581	94.33	gold quality
parietal lobe	UBERON:0001872	94.10	gold quality
occipital lobe	UBERON:0002021	93.74	gold quality
primary visual cortex	UBERON:0002436	93.67	gold quality
entorhinal cortex	UBERON:0002728	93.66	gold quality
superior vestibular nucleus	UBERON:0007227	92.63	gold quality
lateral nuclear group of thalamus	UBERON:0002736	92.51	gold quality
prefrontal cortex	UBERON:0000451	92.20	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	91.43	gold quality
frontal cortex	UBERON:0001870	90.85	gold quality
lateral globus pallidus	UBERON:0002476	90.56	gold quality
Brodmann (1909) area 9	UBERON:0013540	90.40	gold quality
neocortex	UBERON:0001950	90.17	gold quality
cerebral cortex	UBERON:0000956	89.97	gold quality
medulla oblongata	UBERON:0001896	89.97	gold quality
anterior cingulate cortex	UBERON:0009835	88.45	gold quality
dorsal plus ventral thalamus	UBERON:0001897	88.30	gold quality
temporal lobe	UBERON:0001871	87.93	gold quality
superficial temporal artery	UBERON:0001614	87.85	gold quality
visceral pleura	UBERON:0002401	86.53	gold quality
epithelial cell of pancreas	CL:0000083	86.29	silver quality
midbrain	UBERON:0001891	86.19	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.43

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

211 targeting SGTB, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3646	100.00	73.56	5283
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548A-5P	99.94	71.27	3482

Literature-anchored findings (GeneRIF, showing 3)

• miR-365b promoted hepatocellular carcinoma (HCC) cell motility and spreading. Furthermore, SGTB was found to be a downstream target of miR-365b, and knockdown of the SGTB gene could mimic the effect of miR-365b in hastening HCC cell migration and invasion. These results imply that miR-365b plays a tumor-promoting role in HCC by suppressing SGTB expression. (PMID:30943053)
• Bioinformatics identification of miR-514b-5p promotes NSCLC progression and induces PI3K/AKT and p38 pathways by targeting small glutamine-rich tetratricopeptide repeat-containing protein beta. (PMID:36180981)
• Dynamic stability of Sgt2 enables selective and privileged client handover in a chaperone triad. (PMID:38167697)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	sgtb	ENSDARG00000016769
mus_musculus	Sgtb	ENSMUSG00000042743
rattus_norvegicus	Sgtb	ENSRNOG00000011937
drosophila_melanogaster	unc-45	FBGN0288846
caenorhabditis_elegans		WBGENE00006781

Paralogs (18): RPAP3 (ENSG00000005175), TOMM34 (ENSG00000025772), ST13 (ENSG00000100380), STUB1 (ENSG00000103266), SPAG1 (ENSG00000104450), SGTA (ENSG00000104969), TTC1 (ENSG00000113312), TTC31 (ENSG00000115282), UNC45A (ENSG00000140553), UNC45B (ENSG00000141161), SPATA16 (ENSG00000144962), TTC12 (ENSG00000149292), TOMM70 (ENSG00000154174), SUGT1 (ENSG00000165416), STIP1 (ENSG00000168439), TTC32 (ENSG00000183891), TTC4 (ENSG00000243725), DNAAF4 (ENSG00000256061)

Protein

Protein identifiers

Small glutamine-rich tetratricopeptide repeat-containing protein beta — Q96EQ0 (reviewed: Q96EQ0)

Alternative names: Beta-SGT, Small glutamine-rich protein with tetratricopeptide repeats 2

All UniProt accessions (2): D6RFW1, Q96EQ0

UniProt curated annotations — full annotation on UniProt →

Function. Co-chaperone that binds directly to HSC70 and HSP70 and regulates their ATPase activity.

Subunit / interactions. Homooligomerize.

Similarity. Belongs to the SGT family.

RefSeq proteins (1): NP_061945* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR019734	TPR_rpt	Repeat
IPR032374	SGTA_dimer	Domain
IPR047150	SGT	Family

Pfam: PF00515, PF13414, PF16546

UniProt features (9 total): repeat 4, modified residue 4, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96EQ0-F1	81.94	0.52

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 131, 293, 295, 297

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 156 (showing top): STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_PROTEIN_TARGETING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, USF_C, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, TGCTGAY_UNKNOWN, MCBRYAN_PUBERTAL_BREAST_3_4WK_UP, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, ATGCTGG_MIR338, TGGNNNNNNKCCAR_UNKNOWN, GOBP_PROTEIN_HOMOOLIGOMERIZATION, YY1_01

GO Biological Process (3): post-translational protein targeting to endoplasmic reticulum membrane (GO:0006620), protein homooligomerization (GO:0051260), protein heterooligomerization (GO:0051291)

GO Molecular Function (5): Hsp70 protein binding (GO:0030544), identical protein binding (GO:0042802), molecular adaptor activity (GO:0060090), protein binding (GO:0005515), protein-folding chaperone binding (GO:0051087)

GO Cellular Component (2): membrane (GO:0016020), TRC complex (GO:0072380)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein complex oligomerization	2
protein binding	2
binding	2
protein targeting to membrane	1
protein targeting to ER	1
heat shock protein binding	1
protein-folding chaperone binding	1
molecular_function	1
cellular anatomical structure	1
ER membrane insertion complex	1

Protein interactions and networks

STRING

1768 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SGTB	GET3	O43681	581
SGTB	GET4	Q7L5D6	536
SGTB	PLXNB1	O43157	515
SGTB	GET1	O00258	509
SGTB	DNAJA1	P31689	497
SGTB	UBL4A	P11441	451
SGTB	NAA25	Q14CX7	440
SGTB	DNAJB2	P25686	439
SGTB	PHAX	Q9H814	426
SGTB	ANKRD42	Q8N9B4	421
SGTB	CENPU	Q71F23	416
SGTB	UBL4B	Q8N7F7	411
SGTB	EEIG2	Q5T8I3	403
SGTB	LIN7A	O14910	402
SGTB	RASD2	Q96D21	393

IntAct

410 interactions, top by confidence:

A	B	Type	Score
SGTB	EFEMP2	psi-mi:“MI:0915”(physical association)	0.830
EFEMP2	SGTB	psi-mi:“MI:0915”(physical association)	0.830
SGTB	RAI2	psi-mi:“MI:0915”(physical association)	0.740
RAI2	SGTB	psi-mi:“MI:0915”(physical association)	0.740
TXNDC12	SGTB	psi-mi:“MI:0915”(physical association)	0.720
SERPINE1	SGTB	psi-mi:“MI:0915”(physical association)	0.720
SGTB	TXNDC12	psi-mi:“MI:0915”(physical association)	0.720
IL6ST	SGTB	psi-mi:“MI:0915”(physical association)	0.670
SGTB	IL6ST	psi-mi:“MI:0915”(physical association)	0.560
IL6ST	SGTB	psi-mi:“MI:0915”(physical association)	0.560
SGTB	GRX2	psi-mi:“MI:0915”(physical association)	0.560
CPR5	SGTB	psi-mi:“MI:0915”(physical association)	0.560
OST4	SGTB	psi-mi:“MI:0915”(physical association)	0.560
SGTB	CPR5	psi-mi:“MI:0915”(physical association)	0.560
COL1A2	SGTB	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (217): SGTB (Two-hybrid), SGTB (Two-hybrid), SGTB (Two-hybrid), SGTB (Two-hybrid), SGTB (Two-hybrid), SGTB (Affinity Capture-MS), SGTB (Two-hybrid), SGTB (Two-hybrid), SGTB (Two-hybrid), PPIB (Two-hybrid), ASS1 (Affinity Capture-MS), BLMH (Affinity Capture-MS), SLC25A20 (Affinity Capture-MS), EIF2B1 (Affinity Capture-MS), EIF4G1 (Affinity Capture-MS)

ESM2 similar proteins: A7RDN6, A9UL91, B4G0F3, B8BKI7, C6JS30, E0CSI1, E0CTF3, P00336, P00341, P11172, P13439, P13491, P13743, P31754, P31950, P33571, P42120, P42121, P46597, P79913, Q28C69, Q2R483, Q32LU1, Q3U1V6, Q3UFY7, Q4SSF5, Q5E9B1, Q5R1W9, Q5R514, Q5U2W9, Q5ZKF6, Q6AYP7, Q6DIS1, Q6IRS2, Q7SYN4, Q7T0T2, Q96EQ0, Q98SK9, Q9D020, Q9FMR5

Diamond homologs: A4K2V0, A6HD62, A6ZRW3, D7REX8, F1RBN2, F4IRM4, F4JTI1, F4K487, F4KCL7, O13754, O14217, O16259, O35814, O48802, O54981, O94826, O95801, P07213, P23231, P25638, P31948, P33313, P38825, P53041, P53042, Q07617, Q12118, Q13451, Q15785, Q32PZ3, Q3KRD5, Q3ZBR5, Q43207, Q4R8N7, Q5EA11, Q5PPS5, Q5R8D8, Q5RAP0, Q5U2X2, Q5VJS5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	23
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1722 predictions. Top by Δscore:

Variant	Effect	Δscore
5:65670195:T:TA	donor_gain	1.0000
5:65671913:A:AC	donor_gain	1.0000
5:65671914:C:CC	donor_gain	1.0000
5:65671914:CG:C	donor_gain	1.0000
5:65671997:TT:T	acceptor_gain	1.0000
5:65671999:C:CC	acceptor_gain	1.0000
5:65680489:CTCA:C	donor_loss	1.0000
5:65680490:TCACC:T	donor_loss	1.0000
5:65680491:CA:C	donor_loss	1.0000
5:65680492:A:AC	donor_gain	1.0000
5:65680492:A:T	donor_loss	1.0000
5:65680493:C:CC	donor_gain	1.0000
5:65680493:CCATA:C	donor_gain	1.0000
5:65680553:CTGT:C	acceptor_gain	1.0000
5:65680555:GT:G	acceptor_gain	1.0000
5:65680557:C:CC	acceptor_gain	1.0000
5:65680557:C:CG	acceptor_loss	1.0000
5:65680654:A:AC	donor_gain	1.0000
5:65680655:C:CC	donor_gain	1.0000
5:65680655:CAGGA:C	donor_gain	1.0000
5:65680676:A:C	donor_gain	1.0000
5:65680790:CCAGC:C	acceptor_gain	1.0000
5:65680791:CAGCC:C	acceptor_gain	1.0000
5:65680795:C:CC	acceptor_gain	1.0000
5:65685366:ACC:A	donor_gain	1.0000
5:65685367:CCC:C	donor_gain	1.0000
5:65685471:CC:C	acceptor_gain	1.0000
5:65685472:CC:C	acceptor_gain	1.0000
5:65685473:C:CC	acceptor_gain	1.0000
5:65699923:AAGAG:A	donor_gain	1.0000

AlphaMissense

2019 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:65685369:C:A	G160W	1.000
5:65685464:G:T	A128D	1.000
5:65704378:C:T	G92D	1.000
5:65670301:A:G	L287P	0.999
5:65670343:G:T	A273D	0.999
5:65680760:C:G	A172P	0.999
5:65685368:C:T	G160E	0.999
5:65685369:C:G	G160R	0.999
5:65685369:C:T	G160R	0.999
5:65685373:T:A	R158S	0.999
5:65685373:T:G	R158S	0.999
5:65685374:C:G	R158T	0.999
5:65685383:G:T	A155D	0.999
5:65685385:C:A	K154N	0.999
5:65685385:C:G	K154N	0.999
5:65685414:C:G	A145P	0.999
5:65685421:A:C	C142W	0.999
5:65685423:A:G	C142R	0.999
5:65685467:G:T	A127D	0.999
5:65685470:G:T	A126D	0.999
5:65685471:C:G	A126P	0.999
5:65685472:C:A	R125S	0.999
5:65685472:C:G	R125S	0.999
5:65704281:G:C	N124K	0.999
5:65704281:G:T	N124K	0.999
5:65704283:T:C	N124D	0.999
5:65704322:C:G	A111P	0.999
5:65704342:G:T	A104E	0.999
5:65704343:C:G	A104P	0.999
5:65708489:C:G	G92R	0.999

dbSNP variants (sampled 300 via entrez): RS1000094207 (5:65686884 C>T), RS1000100769 (5:65672575 G>C), RS1000125559 (5:65686660 C>T), RS1000160309 (5:65708970 G>A), RS1000185231 (5:65691443 G>A,C), RS1000243494 (5:65712255 C>G,T), RS1000269136 (5:65716076 T>C), RS1000345895 (5:65705547 T>C), RS1000398175 (5:65705278 T>A), RS1000494678 (5:65678084 A>G), RS1000528244 (5:65687363 C>G,T), RS1000580638 (5:65708752 A>G), RS1000610232 (5:65723533 G>A,C), RS1000626871 (5:65681839 G>A), RS1000627604 (5:65715929 C>T)

Disease associations

OMIM: gene MIM:620526 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST010701_121	Cortical surface area (MOSTest)	6.000000e-11
GCST010702_62	Subcortical volume (MOSTest)	6.000000e-12
GCST010703_77	Brain morphology (MOSTest)	2.000000e-16
GCST012006_2	Intralaminar thalamic nuclei volume	4.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement
EFO:0006935	thalamus volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	5
bisphenol A	decreases expression	2
Acetaminophen	increases expression	2
Air Pollutants	increases abundance, increases expression, decreases expression	2
Cyclosporine	increases expression	2
Particulate Matter	increases expression, decreases expression, increases abundance	2
FR900359	increases phosphorylation	1
trichostatin A	affects expression	1
perfluorooctanoic acid	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
perfluoro-n-nonanoic acid	increases expression	1
scriptaid	increases expression	1
abrine	decreases expression	1
jinfukang	decreases expression	1
NSC 689534	affects binding, increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Arsenic	increases abundance, increases expression, affects cotreatment	1
Benzo(a)pyrene	increases expression	1
Caffeine	decreases phosphorylation	1
Camptothecin	decreases expression	1
Carbamazepine	affects expression	1
Copper	affects binding, increases expression	1
Ivermectin	decreases expression	1
Lipopolysaccharides	affects cotreatment, increases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1

Clinical trials (associated diseases)

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