JMJD8

Summary

JMJD8 (jumonji domain containing 8, HGNC:14148) is a protein-coding gene on chromosome 16p13.3, encoding JmjC domain-containing protein 8 (Q96S16). Functions as a positive regulator of TNF-induced NF-kappa-B signaling.

Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including positive regulation of canonical NF-kappaB signal transduction; positive regulation of sprouting angiogenesis; and regulation of pyruvate kinase activity. Located in endoplasmic reticulum lumen and nucleus.

Source: NCBI Gene 339123 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 253 total — 3 pathogenic, 9 likely-pathogenic
• MANE Select transcript: NM_001005920

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14148
Approved symbol	JMJD8
Name	jumonji domain containing 8
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000161999
Ensembl biotype	protein_coding
Entrez	339123

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 17 protein_coding, 11 retained_intron, 1 nonsense_mediated_decay

ENST00000562111, ENST00000562824, ENST00000563088, ENST00000564436, ENST00000565258, ENST00000565302, ENST00000566199, ENST00000567120, ENST00000567901, ENST00000568313, ENST00000568689, ENST00000569396, ENST00000569441, ENST00000570037, ENST00000609261, ENST00000880258, ENST00000880259, ENST00000880260, ENST00000880261, ENST00000880262, ENST00000880263, ENST00000917366, ENST00000917367, ENST00000917368, ENST00000965285, ENST00000965286, ENST00000965287, ENST00000965288, ENST00000965289

RefSeq mRNA: 5 — MANE Select: NM_001005920 NM_001005920, NM_001323918, NM_001323919, NM_001323920, NM_001323922

CCDS: CCDS45369, CCDS92074, CCDS92075

Canonical transcript exons

ENST00000609261 — 9 exons

Exon	Start	End
ENSE00003472921	683322	683441
ENSE00003483885	683685	683781
ENSE00003545964	683167	683234
ENSE00003550604	684066	684155
ENSE00003558241	682953	683087
ENSE00003576983	681670	682874
ENSE00003588853	683530	683598
ENSE00003629377	683861	683909
ENSE00003706720	684234	684334

Expression profiles

Bgee: expression breadth ubiquitous, 222 present calls, max score 97.06.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.1788 / max 267.6987, expressed in 1800 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
155747	41.1788	1800

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	97.06	gold quality
thoracic aorta	UBERON:0001515	96.04	gold quality
left uterine tube	UBERON:0001303	96.01	gold quality
ascending aorta	UBERON:0001496	96.00	gold quality
right coronary artery	UBERON:0001625	96.00	gold quality
descending thoracic aorta	UBERON:0002345	95.98	gold quality
left coronary artery	UBERON:0001626	95.87	gold quality
right lobe of thyroid gland	UBERON:0001119	95.86	gold quality
aorta	UBERON:0000947	95.82	gold quality
left adrenal gland cortex	UBERON:0035825	95.76	gold quality
popliteal artery	UBERON:0002250	95.74	gold quality
tibial artery	UBERON:0007610	95.73	gold quality
left lobe of thyroid gland	UBERON:0001120	95.68	gold quality
coronary artery	UBERON:0001621	95.68	gold quality
metanephros cortex	UBERON:0010533	95.65	gold quality
left adrenal gland	UBERON:0001234	95.57	gold quality
kidney epithelium	UBERON:0004819	95.56	silver quality
lower esophagus	UBERON:0013473	95.48	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.48	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.48	gold quality
lower esophagus mucosa	UBERON:0035834	95.40	gold quality
right adrenal gland	UBERON:0001233	95.32	gold quality
body of uterus	UBERON:0009853	95.32	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.27	gold quality
adrenal cortex	UBERON:0001235	95.24	gold quality
body of stomach	UBERON:0001161	95.04	gold quality
right adrenal gland cortex	UBERON:0035827	95.01	gold quality
adenohypophysis	UBERON:0002196	94.95	gold quality
thyroid gland	UBERON:0002046	94.90	gold quality
ectocervix	UBERON:0012249	94.89	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.55

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

56 targeting JMJD8, 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-6867-5P	100.00	82.21	3464
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-3911	99.38	66.95	1087
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-6071	99.16	67.77	1780
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-3160-3P	99.07	64.78	955
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-6889-3P	98.84	67.35	1198
HSA-MIR-942-3P	98.81	69.04	876
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-6529-3P	98.68	66.76	1020

Literature-anchored findings (GeneRIF, showing 7)

• Jmjd8 is upregulated during endothelial differentiation and regulates endothelial sprouting and metabolism by interacting with pyruvate kinase M2. (PMID:27199445)
• Study demonstrated that JMJD8 is the first JmjC domain-containing protein found in the lumen of the endoplasmic reticulum that may function in protein complex assembly and protein folding. (PMID:29133832)
• The research provided data to establish the role of JMJD8 in regulating tumor cell proliferation and their sensitivity to ionizing irradiation or chemo-therapy drug, and the AKT/NF-kappaB/COX-2 signaling mediated expression of Ku70/Ku80 was involved. (PMID:31473257)
• Aberrant JmjC domain-containing protein 8 (JMJD8) expression promotes activation of AKT and tumor epithelial-mesenchymal transition. (PMID:32879443)
• JMJD8 Is an M2 Macrophage Biomarker, and It Associates With DNA Damage Repair to Facilitate Stemness Maintenance, Chemoresistance, and Immunosuppression in Pan-Cancer. (PMID:35898493)
• ER-localized JmjC domain-containing protein JMJD8 targets STING to promote immune evasion and tumor growth in breast cancer. (PMID:37054705)
• USP22-JMJD8 axis promotes Lenvatinib resistance in hepatocellular carcinoma. (PMID:37898375)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	JMJD8	ENSDARG00000104841
mus_musculus	Jmjd8	ENSMUSG00000025736
rattus_norvegicus	Jmjd8	ENSRNOG00000019729
drosophila_melanogaster	CG14331	FBGN0038510
caenorhabditis_elegans		WBGENE00043156

Paralogs (2): JMJD6 (ENSG00000070495), JMJD4 (ENSG00000081692)

Protein

Protein identifiers

JmjC domain-containing protein 8 — Q96S16 (reviewed: Q96S16)

Alternative names: Jumonji domain-containing protein 8

All UniProt accessions (3): Q96S16, H3BN60, H3BVG3

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a positive regulator of TNF-induced NF-kappa-B signaling. Regulates angiogenesis and cellular metabolism through interaction with PKM.

Subunit / interactions. Oligomer. Dimer. Interacts with PKM; regulates angiogenesis and metabolism.

Subcellular location. Endoplasmic reticulum lumen. Cytoplasm.

Post-translational modifications. N-glycosylated.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96S16-1	1	yes
Q96S16-2	2

RefSeq proteins (5): NP_001005920, NP_001310847, NP_001310848, NP_001310849, NP_001310851 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003347	JmjC_dom	Domain
IPR041667	Cupin_8	Domain
IPR050910	JMJD6_ArgDemeth/LysHydrox	Family

Pfam: PF13621

UniProt features (9 total): glycosylation site 3, sequence conflict 2, signal peptide 1, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96S16-F1	91.33	0.86

Functional residue map

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

Glycosylation sites (3): 130, 140, 209

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 152 (showing top): GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, CACCAGC_MIR138, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_SPROUTING_ANGIOGENESIS, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS

GO Biological Process (4): regulation of glycolytic process (GO:0006110), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), regulation of pyruvate kinase activity (GO:1903302), positive regulation of sprouting angiogenesis (GO:1903672)

GO Molecular Function (2): cis-regulatory region sequence-specific DNA binding (GO:0000987), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	2
glycolytic process	1
regulation of purine nucleotide catabolic process	1
regulation of generation of precursor metabolites and energy	1
regulation of carbohydrate catabolic process	1
regulation of ATP metabolic process	1
canonical NF-kappaB signal transduction	1
regulation of canonical NF-kappaB signal transduction	1
positive regulation of intracellular signal transduction	1
pyruvate kinase activity	1
regulation of transferase activity	1
sprouting angiogenesis	1
positive regulation of angiogenesis	1
regulation of sprouting angiogenesis	1
transcription cis-regulatory region binding	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
endomembrane system	1
endoplasmic reticulum	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

552 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
JMJD8	TYW5	A2RUC4	667
JMJD8	RIOX2	Q8IUF8	629
JMJD8	RIOX1	Q9H6W3	568
JMJD8	C9K0I3	C9K0I3	532
JMJD8	KDM7A	Q6ZMT4	494
JMJD8	KDM3B	Q7LBC6	429
JMJD8	JARID2	Q92833	427
JMJD8	HIF1AN	Q9NWT6	424
JMJD8	CACUL1	Q86Y37	421
JMJD8	KDM4B	O94953	407
JMJD8	KDM2B	Q8NHM5	400
JMJD8	KDM4C	Q9H3R0	397
JMJD8	HR	O43593	391
JMJD8	KDM8	Q8N371	390
JMJD8	HSPBAP1	Q96EW2	386
JMJD8	KDM3A	Q9Y4C1	386

IntAct

35 interactions, top by confidence:

A	B	Type	Score
TCTN2	CLGN	psi-mi:“MI:0914”(association)	0.780
FBXO6	MAN2B1	psi-mi:“MI:0914”(association)	0.640
TCTN2	TCTN3	psi-mi:“MI:0914”(association)	0.640
A4GNT	POTEF	psi-mi:“MI:0914”(association)	0.530
MBTPS1	CLGN	psi-mi:“MI:0914”(association)	0.530
ASGR2	MT-CO1	psi-mi:“MI:0914”(association)	0.530
ENTPD7	PGK2	psi-mi:“MI:0914”(association)	0.530
ST6GALNAC5	FBP1	psi-mi:“MI:0914”(association)	0.530
WNT10B	PPP2R2D	psi-mi:“MI:0914”(association)	0.530
CD79A	ODR4	psi-mi:“MI:0914”(association)	0.530
LDLRAD1	ADAM10	psi-mi:“MI:0914”(association)	0.530
PDIA3	JMJD8	psi-mi:“MI:0915”(physical association)	0.400
LDLRAD1	GXYLT2	psi-mi:“MI:0914”(association)	0.350
TCTN2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
KIR2DL4	GPR89A	psi-mi:“MI:0914”(association)	0.350
APOC3	EMC8	psi-mi:“MI:0914”(association)	0.350
GFRA3	B3GAT3	psi-mi:“MI:0914”(association)	0.350
CDHR5	LGALS1	psi-mi:“MI:0914”(association)	0.350
ASTL	HSPA5	psi-mi:“MI:0914”(association)	0.350
PLD6	HSPA5	psi-mi:“MI:0914”(association)	0.350
PDIA6	PLS1	psi-mi:“MI:0914”(association)	0.350
DNAJB9	POTEF	psi-mi:“MI:0914”(association)	0.350
ELSPBP1	QSOX1	psi-mi:“MI:0914”(association)	0.350
PRG2	QSOX1	psi-mi:“MI:0914”(association)	0.350
SDF2L1	MANBA	psi-mi:“MI:0914”(association)	0.350
KLK15	APAF1	psi-mi:“MI:0914”(association)	0.350
TNFRSF6B	ORC4	psi-mi:“MI:0914”(association)	0.350
ASGR2	SCAMP2	psi-mi:“MI:0914”(association)	0.350
CANT1	CLGN	psi-mi:“MI:0914”(association)	0.350

BioGRID (52): JMJD8 (Affinity Capture-RNA), JMJD8 (Affinity Capture-RNA), JMJD8 (Affinity Capture-MS), JMJD8 (Affinity Capture-MS), JMJD8 (Affinity Capture-MS), JMJD8 (Affinity Capture-MS), JMJD8 (Affinity Capture-MS), JMJD8 (Affinity Capture-MS), JMJD8 (Affinity Capture-MS), JMJD8 (Affinity Capture-MS), JMJD8 (Synthetic Growth Defect), JMJD8 (Affinity Capture-MS), JMJD8 (Affinity Capture-MS), JMJD8 (Affinity Capture-MS), JMJD8 (Affinity Capture-MS)

ESM2 similar proteins: A2RSX7, A2RUC4, D4PHA7, O95461, P33488, P33490, P59723, Q1JP61, Q2TBF2, Q3TA59, Q3TCT4, Q3TDN0, Q497B8, Q5BKC6, Q5M843, Q5M900, Q5NDE3, Q5NDE8, Q5NDE9, Q5NDF0, Q5NDF1, Q5NDF2, Q5REF6, Q5U367, Q5XGE0, Q66PG3, Q66PG4, Q6AY40, Q6NRQ1, Q6PK18, Q7LFX5, Q812F8, Q8BG58, Q8BJQ9, Q8BLR9, Q8BW41, Q8N371, Q8NAT1, Q8TDX6, Q91XQ5

Diamond homologs: E1C7T6, Q08BY5, Q3TA59, Q58CU3, Q5BKC6, Q6AXL5, Q6AY40, Q8BK58, Q96S16, Q9H9V9, Q9M9E8, A8E534, F4K2M8, P59723, Q08BV2, Q4IER0, Q54LV7, Q55DF5, Q5BH52, Q8BLR9, Q8RWR1, Q96EW2, Q9NWT6, Q9W0M3, Q58DS6, Q5R6G2, Q5ZMK5, Q623U2, Q67XX3, Q6AYK2, Q6GND3, Q6NYC1, Q6PFM0, Q6Q4H1, Q7ZX37, Q9ERI5, Q9GYI4, Q9VD28

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 53 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Post-translational protein phosphorylation	5	13.2×	3e-03
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	5	11.4×	3e-03
Neutrophil degranulation	8	4.9×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
ERAD pathway	5	17.8×	1e-03
response to endoplasmic reticulum stress	5	16.4×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	9
Uncertain significance	151
Likely benign	44
Benign	6

Top pathogenic / likely-pathogenic (12)

Variant ID	HGVS	Classification
127148	NM_005861.4(STUB1):c.719T>C (p.Met240Thr)	Pathogenic
996804	NM_005861.4(STUB1):c.617_618del (p.Lys206fs)	Pathogenic
997704	NM_005861.4(STUB1):c.818_819dup (p.Pro274fs)	Pathogenic
1027452	NM_005861.4(STUB1):c.721C>T (p.Arg241Trp)	Likely pathogenic
1184458	NM_005861.4(STUB1):c.779A>C (p.His260Pro)	Likely pathogenic
1301244	NM_005861.4(STUB1):c.544C>T (p.Arg182Ter)	Likely pathogenic
1333941	NM_005861.4(STUB1):c.807dup (p.Val270fs)	Likely pathogenic
3338115	NM_005861.4(STUB1):c.784C>T (p.Gln262Ter)	Likely pathogenic
3340972	NM_005861.4(STUB1):c.772G>T (p.Glu258Ter)	Likely pathogenic
436888	NM_005861.4(STUB1):c.694_699del (p.Cys232_Gly233del)	Likely pathogenic
436889	NM_005861.4(STUB1):c.721C>G (p.Arg241Gly)	Likely pathogenic
522378	NM_005861.4(STUB1):c.*240T>C	Likely pathogenic

SpliceAI

1541 predictions. Top by Δscore:

Variant	Effect	Δscore
16:681698:G:GT	donor_gain	1.0000
16:681699:A:T	donor_gain	1.0000
16:681708:G:T	donor_gain	1.0000
16:681877:GCAC:G	donor_gain	1.0000
16:681881:G:GG	donor_gain	1.0000
16:682072:GGAAG:G	donor_gain	1.0000
16:682073:GAAGG:G	donor_gain	1.0000
16:682074:AAGGT:A	donor_loss	1.0000
16:682075:AGGTG:A	donor_loss	1.0000
16:682076:GGTG:G	donor_loss	1.0000
16:682077:GTGA:G	donor_loss	1.0000
16:682078:T:A	donor_loss	1.0000
16:682157:T:TA	acceptor_gain	1.0000
16:682160:CACA:C	acceptor_loss	1.0000
16:682163:A:AG	acceptor_gain	1.0000
16:682163:A:C	acceptor_loss	1.0000
16:682164:G:GG	acceptor_gain	1.0000
16:682164:GA:G	acceptor_gain	1.0000
16:682164:GAA:G	acceptor_gain	1.0000
16:682164:GAAGC:G	acceptor_gain	1.0000
16:682278:GCAG:G	donor_gain	1.0000
16:682279:CAG:C	donor_loss	1.0000
16:682280:AGGT:A	donor_loss	1.0000
16:682281:GGT:G	donor_loss	1.0000
16:682282:G:A	donor_loss	1.0000
16:682282:G:GG	donor_gain	1.0000
16:682283:T:A	donor_loss	1.0000
16:683083:CAGCG:C	acceptor_gain	1.0000
16:683086:CG:C	acceptor_gain	1.0000
16:683088:C:CC	acceptor_gain	1.0000

AlphaMissense

1678 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:682803:G:C	F262L	0.999
16:682803:G:T	F262L	0.999
16:682805:A:G	F262L	0.999
16:682847:G:C	H248D	0.999
16:683167:C:A	K193N	0.999
16:683167:C:G	K193N	0.999
16:683211:G:C	H179D	0.999
16:683425:G:C	F136L	0.999
16:683425:G:T	F136L	0.999
16:683427:A:G	F136L	0.999
16:682815:G:C	F258L	0.998
16:682815:G:T	F258L	0.998
16:682817:A:G	F258L	0.998
16:682833:G:C	N252K	0.998
16:682833:G:T	N252K	0.998
16:683084:A:G	W195R	0.998
16:683084:A:T	W195R	0.998
16:682821:G:C	S256R	0.997
16:682821:G:T	S256R	0.997
16:682823:T:G	S256R	0.997
16:682844:C:G	A249P	0.997
16:682868:A:C	Y241D	0.997
16:683330:C:T	G168E	0.997
16:683403:A:G	W144R	0.997
16:683403:A:T	W144R	0.997
16:682804:A:C	F262C	0.996
16:682819:A:T	V257D	0.996
16:682847:G:T	H248N	0.996
16:682853:A:G	W246R	0.996
16:682853:A:T	W246R	0.996

dbSNP variants (sampled 300 via entrez): RS1000603813 (16:682627 C>A,G,T), RS1000675280 (16:683322 C>A,G,T), RS1001194178 (16:684298 G>A,C), RS1002196304 (16:683629 G>A,T), RS1003485847 (16:682162 C>T), RS1003650523 (16:684783 C>A,G,T), RS1003852324 (16:681490 C>T), RS1004591587 (16:686127 A>C,G), RS1004703683 (16:682553 T>A), RS1005719910 (16:681550 G>A), RS1005748540 (16:681723 G>A,C), RS1006836146 (16:683605 G>A,C,T), RS1007034933 (16:684676 C>A,T), RS1007065937 (16:684489 A>G), RS1007131938 (16:685494 G>A,T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:615768, MIM:618093

GenCC curated gene-disease

Mondo (3): autosomal recessive spinocerebellar ataxia 16 (MONDO:0014339), spinocerebellar ataxia 48 (MONDO:0032526), cerebellar ataxia (MONDO:0000437)

Orphanet (3): Autosomal recessive cerebellar ataxia due to STUB1 deficiency (Orphanet:412057), Spinocerebellar ataxia type 48 (Orphanet:631103), Rare ataxia (Orphanet:102002)

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST010796_5294	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-09
GCST010796_5295	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-08
GCST010796_5296	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_5297	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004327	electrocardiography

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D002524	Cerebellar Ataxia	C10.228.140.252.190; C10.597.350.090.500; C23.888.592.350.090.200

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs11640115	Efficacy	3	aspirin;clopidogrel	Acute coronary syndrome;Major Adverse Cardiac Events (MACE)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs11640115	JMJD8, WDR24	3	3.50	1	aspirin;clopidogrel

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases abundance, increases expression, decreases expression	4
Air Pollutants	decreases expression, increases abundance, increases expression	2
Arsenic	affects cotreatment, decreases expression, increases abundance, increases expression	2
Cadmium Chloride	decreases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression, affects cotreatment	1
bisphenol A	decreases methylation	1
beta-lapachone	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	decreases expression	1
nickel sulfate	decreases expression	1
isobutyl alcohol	decreases expression, increases abundance, affects cotreatment	1
MT19c compound	decreases expression	1
Temozolomide	increases expression	1
Ethanol	affects cotreatment, decreases expression, increases abundance	1
Atrazine	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Gasoline	increases abundance, affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Smoke	increases abundance, increases expression	1
Thiram	decreases expression	1
Tunicamycin	increases expression	1
Valproic Acid	increases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00950196	PHASE4	COMPLETED	Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia
NCT04107740	PHASE4	COMPLETED	C-Trelin Orally Disintegrated(OD) Tablet 5mg in Ataxia Due to Spinocerebellar Degeneration
NCT01970098	PHASE3	COMPLETED	A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970111	PHASE3	COMPLETED	An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970124	PHASE3	COMPLETED	A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970137	PHASE3	COMPLETED	A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT02889302	PHASE3	COMPLETED	An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT03408080	PHASE3	ACTIVE_NOT_RECRUITING	Open Pilot Trial of BHV-4157
NCT03701399	PHASE3	ACTIVE_NOT_RECRUITING	Troriluzole in Adult Participants With Spinocerebellar Ataxia
NCT03901638	PHASE3	TERMINATED	Tllsh2910 for Ataxia and Gut Microbiota Alteration in Patients of Multiple System Atrophy
NCT07040137	PHASE3	RECRUITING	Confirmatory Study 3 of KPS-0373 in Patients With Spinocerebellar Degeneration
NCT00034242	PHASE2	COMPLETED	High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration
NCT00202397	PHASE2	COMPLETED	Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia
NCT00863538	PHASE2	COMPLETED	Phase II Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01004016	PHASE2	COMPLETED	A Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01350440	PHASE2	COMPLETED	Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia
NCT02540655	PHASE2	COMPLETED	Efficacy and Safety Study of Stemchymal® in Polyglutamine Spinocerebellar Ataxia
NCT03932669	PHASE2	COMPLETED	Effect of Nilotinib in Cerebellar Ataxia Patients
NCT04301284	PHASE2	WITHDRAWN	Study of CAD-1883 for Spinocerebellar Ataxia
NCT05125666	PHASE2	UNKNOWN	Efficacy of Dual Task Training on Children With Ataxia After Medulloblastoma Resection
NCT06397274	PHASE2	NOT_YET_RECRUITING	Stemchymal® for Polyglutamine Spinocerebellar Ataxia
NCT00683943	PHASE1	COMPLETED	Lithium Treatment for Patients With Spinocerebellar Ataxia Type I
NCT02287064	PHASE1	UNKNOWN	An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias
NCT05157802	PHASE1	ACTIVE_NOT_RECRUITING	Promoting Physical Activity Engagement for People With Early-stage Cerebellar Ataxia
NCT01104649	PHASE2/PHASE3	COMPLETED	Efficacy of Riluzole in Hereditary Cerebellar Ataxia
NCT02960893	PHASE2/PHASE3	COMPLETED	Trial in Adult Participants With Spinocerebellar Ataxia (SCA)
NCT00244361	PHASE1/PHASE2	COMPLETED	Effectiveness of Rituximab in Pediatric OMS Patients.
NCT01649687	PHASE1/PHASE2	COMPLETED	Treatment of Cerebellar Ataxia With Mesenchymal Stem Cells
NCT01958177	PHASE1/PHASE2	UNKNOWN	Clinical Study to Evaluate the Safety and Efficacy BMMNC in Cerebellar Ataxia
NCT02829268	PHASE1/PHASE2	COMPLETED	A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome
NCT00001324	Not specified	COMPLETED	PET Scan to Study Brain Control of Human Movement
NCT00006492	Not specified	COMPLETED	Gluten-Free Diet in Patients With Gluten Sensitivity and Cerebellar Ataxia
NCT00136630	Not specified	COMPLETED	Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
NCT00140829	Not specified	COMPLETED	SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
NCT00272272	Not specified	COMPLETED	Fall Prevention in a Geriatric Nursing Home Setting Using the Music of Nolwenn Leroy
NCT00654251	Not specified	COMPLETED	Measuring Neurological Impairment and Functional Visual Assessment In Spinocerebellar Ataxias
NCT00692861	Not specified	COMPLETED	Autoimmunity in Neurologic Complications of Celiac Disease
NCT01037777	Not specified	COMPLETED	RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7
NCT01307176	Not specified	COMPLETED	Exercise Training Program for Cerebellar Ataxia
NCT01428531	Not specified	COMPLETED	Special Drug Use Investigation for Arixtra® (Fondaparinux) Venous Thromboembolism Treatment