UBAP2

Summary

UBAP2 (ubiquitin associated protein 2, HGNC:14185) is a protein-coding gene on chromosome 9p13.3, encoding Ubiquitin-associated protein 2 (Q5T6F2). Recruits the ubiquitination machinery to RNA polymerase II for polyubiquitination, removal and degradation, when the transcription-coupled nucleotide excision repair (TC-NER) machinery fails to resolve DNA damage.

The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression in the adrenal gland and lymphatic tissues. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 55833 — RefSeq curated summary.

At a glance

• GWAS associations: 19
• Clinical variants (ClinVar): 214 total
• Druggable target: yes
• MANE Select transcript: NM_001370062

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14185
Approved symbol	UBAP2
Name	ubiquitin associated protein 2
Location	9p13.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1491, bA176F3.5, FLJ22435
Ensembl gene	ENSG00000137073
Ensembl biotype	protein_coding
Entrez	55833

Gene structure

Transcript identifiers

Ensembl transcripts: 62 — 41 protein_coding, 11 nonsense_mediated_decay, 9 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000360802, ENST00000379225, ENST00000379235, ENST00000379238, ENST00000379239, ENST00000412543, ENST00000421278, ENST00000459988, ENST00000474372, ENST00000480885, ENST00000488443, ENST00000629575, ENST00000681980, ENST00000682209, ENST00000682239, ENST00000682538, ENST00000682914, ENST00000682949, ENST00000683084, ENST00000683140, ENST00000683252, ENST00000683659, ENST00000683717, ENST00000684158, ENST00000684245, ENST00000684298, ENST00000684754, ENST00000862362, ENST00000862365, ENST00000862367, ENST00000862370, ENST00000862372, ENST00000862374, ENST00000862375, ENST00000862376, ENST00000862377, ENST00000862378, ENST00000862379, ENST00000862380, ENST00000862381, ENST00000862382, ENST00000862383, ENST00000932759, ENST00000932760, ENST00000932761, ENST00000932762, ENST00000932763, ENST00000932764, ENST00000932765, ENST00000932766, ENST00000932767, ENST00000956118, ENST00000956119, ENST00000956120, ENST00000956121, ENST00000956122, ENST00000956123, ENST00000956124, ENST00000956125, ENST00000956126, ENST00000956127, ENST00000956128

RefSeq mRNA: 9 — MANE Select: NM_001370062 NM_001282530, NM_001370059, NM_001370062, NM_001370064, NM_001370066, NM_001370067, NM_001370068, NM_018449, NM_020867

CCDS: CCDS6547, CCDS6548

Canonical transcript exons

ENST00000379238 — 29 exons

Exon	Start	End
ENSE00001240220	33971651	33971754
ENSE00001240227	33973183	33973237
ENSE00001600863	33923795	33924000
ENSE00001608706	33923186	33923293
ENSE00001613981	33935839	33935878
ENSE00001649881	33923379	33923478
ENSE00001671251	33922687	33922878
ENSE00001678758	33941649	33941862
ENSE00001722731	33956079	33956146
ENSE00001762000	33943420	33943589
ENSE00001796921	33922966	33923033
ENSE00002323532	33944365	33944639
ENSE00003458372	33926617	33926664
ENSE00003469731	33996223	33996333
ENSE00003488113	33926989	33927080
ENSE00003522024	33988973	33989126
ENSE00003547890	33927797	33927992
ENSE00003551018	33963726	33963791
ENSE00003575552	33953285	33953474
ENSE00003580211	33960826	33960878
ENSE00003619077	34017050	34017189
ENSE00003626574	33924206	33924284
ENSE00003632689	33932562	33932628
ENSE00003665963	33933490	33933628
ENSE00003693809	33986760	33986837
ENSE00003745226	33998787	33998864
ENSE00003790695	33948374	33948587
ENSE00003901232	34048825	34048887
ENSE00003903606	33921693	33922599

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 98.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.5323 / max 531.0837, expressed in 1805 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
100484	28.8629	1805
100485	1.6695	936

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	98.13	gold quality
pancreatic ductal cell	CL:0002079	97.29	gold quality
male germ cell	CL:0000015	96.74	gold quality
cervix squamous epithelium	UBERON:0006922	95.08	gold quality
vastus lateralis	UBERON:0001379	94.90	gold quality
quadriceps femoris	UBERON:0001377	94.87	gold quality
tongue squamous epithelium	UBERON:0006919	94.72	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.12	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	94.07	gold quality
secondary oocyte	CL:0000655	93.91	gold quality
calcaneal tendon	UBERON:0003701	93.86	gold quality
biceps brachii	UBERON:0001507	93.65	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	93.42	gold quality
skeletal muscle tissue	UBERON:0001134	93.39	gold quality
body of tongue	UBERON:0011876	93.20	gold quality
sural nerve	UBERON:0015488	93.12	gold quality
deltoid	UBERON:0001476	92.90	gold quality
adrenal tissue	UBERON:0018303	92.84	gold quality
colonic epithelium	UBERON:0000397	92.66	gold quality
pharyngeal mucosa	UBERON:0000355	92.63	gold quality
skin of hip	UBERON:0001554	92.40	gold quality
muscle organ	UBERON:0001630	92.40	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.39	gold quality
endothelial cell	CL:0000115	92.23	gold quality
tibialis anterior	UBERON:0001385	92.20	gold quality
nipple	UBERON:0002030	92.19	gold quality
gingival epithelium	UBERON:0001949	92.16	gold quality
adult organism	UBERON:0007023	92.14	gold quality
right testis	UBERON:0004534	92.12	gold quality
left testis	UBERON:0004533	92.10	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting UBAP2, 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-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-549A-3P	99.54	68.17	825
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-548AO-5P	98.55	69.57	1362
HSA-MIR-548AX	98.55	69.58	1362
HSA-MIR-2117	98.48	67.97	1307
HSA-MIR-1910-3P	98.44	67.51	1695
HSA-MIR-6511A-5P	98.13	67.47	1770
HSA-MIR-4257	97.86	68.05	1190
HSA-MIR-4676-5P	97.54	65.29	715
HSA-MIR-575	97.54	65.18	718
HSA-MIR-4433B-3P	97.22	63.62	663
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-3184-3P	96.96	66.91	845
HSA-MIR-1270	96.94	66.65	931
HSA-MIR-620	96.94	66.79	888
HSA-MIR-591	96.29	68.16	611

Literature-anchored findings (GeneRIF, showing 13)

• UBAP2 serves as a host gene for snoRNAs (PMID:19446021)
• By incorporating the information from bioinformatics and RNA expression analyses, we identified at least two of the most promising risk genes for alcohol dependence: APOER2 and UBAP2 (PMID:23739027)
• We found that the 9p13.3 amplification harbors several genes that are able to affect the growth of PC cells when downregulated using siRNA. Of these, UBAP2 was the most prominently upregulated gene in the clinical prostate tumor samples (PMID:27074291)
• UBAP2 formed a complex with Annexin A2 and promoted the degradation of Annexin A2 protein by ubiquitination, and then inhibited HCC progression. (PMID:27121050)
• Effect of Circular RNA UBAP2 Silencing on Proliferation and Invasion of Human Lung Cancer A549 Cells (PMID:29277177)
• The circ-UBAP2 plays a vital regulatory role in triple-negative breast cancer (TNBC) via the miR-661/MTA1 axis and may serve as a promising therapeutic target for TNBC patients. (PMID:30314706)
• circRNA-UBAP2 promotes the proliferation and inhibits apoptosis of ovarian cancer though miR-382-5p/PRPF8 axis. (PMID:32690086)
• Ubiquitin-binding associated protein 2 regulates KRAS activation and macropinocytosis in pancreatic cancer. (PMID:32692445)
• Circ-UBAP2 functions as sponges of miR-1205 and miR-382 to promote glioma progression by modulating STC1 expression. (PMID:33543830)
• Emerging roles of circUBAP2 targeting miR-370-3p in proliferation, apoptosis, and invasion of papillary thyroid cancer cells. (PMID:34346032)
• UBAP2/UBAP2L regulate UV-induced ubiquitylation of RNA polymerase II and are the human orthologues of yeast Def1. (PMID:35633597)
• PAICS ubiquitination recruits UBAP2 to trigger phase separation for purinosome assembly. (PMID:37848033)
• Novel Circular RNA CircUBAP2 Drives Tumor Progression by Regulating the miR-143/TFAP2B Axis in Prostate Cancer. (PMID:37962045)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ubap2	ENSMUSG00000028433
rattus_norvegicus	Ubap2	ENSRNOG00000052087
drosophila_melanogaster	lig	FBGN0020279
caenorhabditis_elegans	pqn-59	WBGENE00004143

Paralogs (1): UBAP2L (ENSG00000143569)

Protein

Protein identifiers

Ubiquitin-associated protein 2 — Q5T6F2 (reviewed: Q5T6F2)

Alternative names: RNA polymerase II degradation factor UBAP2

All UniProt accessions (12): A0A0D9SFI5, A0A804HIK1, Q5T6F2, A0A804HIV8, A0A804HJY7, A0A804HLD2, A0A804HLJ4, A0A8C8KGQ8, A0A8C8MQ70, A2A305, H0YDN2, Q5JV08

UniProt curated annotations — full annotation on UniProt →

Function. Recruits the ubiquitination machinery to RNA polymerase II for polyubiquitination, removal and degradation, when the transcription-coupled nucleotide excision repair (TC-NER) machinery fails to resolve DNA damage. May promote the degradation of ANXA2.

Subunit / interactions. May interact with ANXA2.

Subcellular location. Nucleus. Chromosome. Cytoplasm.

Disease relevance. Reduced expression of UBAP2 correlates with hepatocellular carcinoma tumor progression.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5T6F2-1	1	yes
Q5T6F2-2	2

RefSeq proteins (9): NP_001269459, NP_001356988, NP_001356991, NP_001356993, NP_001356995, NP_001356996, NP_001356997, NP_060919, NP_065918 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009060	UBA-like_sf	Homologous_superfamily
IPR015940	UBA	Domain
IPR022166	UBAP2/Lig	Family
IPR051833	TC-DDR_regulator	Family

Pfam: PF12478

UniProt features (35 total): compositionally biased region 13, region of interest 8, modified residue 5, sequence variant 5, chain 1, domain 1, coiled-coil region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T6F2-F1	43.47	0.03

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 (5): 166, 432, 439, 473, 630

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 118 (showing top): CACCAGC_MIR138, GTGCCTT_MIR506, CAGCAGG_MIR370, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, BLALOCK_ALZHEIMERS_DISEASE_UP, chr9p13, LIAO_METASTASIS, BOYAULT_LIVER_CANCER_SUBCLASS_G1_UP, TTGGAGA_MIR5155P_MIR519E, TCCAGAT_MIR5165P, CAIRO_HEPATOBLASTOMA_UP, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, LIAO_HAVE_SOX4_BINDING_SITES, AGTCAGC_MIR345, AGCGCAG_MIR191

GO Biological Process (2): regulation of gene expression (GO:0010468), hematopoietic stem cell homeostasis (GO:0061484)

GO Molecular Function (3): RNA binding (GO:0003723), cadherin binding (GO:0045296), protein binding (GO:0005515)

GO Cellular Component (4): P-body (GO:0000932), nucleus (GO:0005634), chromosome (GO:0005694), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
gene expression	1
regulation of macromolecule biosynthetic process	1
homeostasis of number of cells	1
nucleic acid binding	1
cell adhesion molecule binding	1
binding	1
cytoplasmic ribonucleoprotein granule	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

4251 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UBAP2	DCAF12	Q5T6F0	441
UBAP2	BLTP3A	Q6BDS2	439
UBAP2	HIPK3	Q9H422	417
UBAP2	FAM240B	A0A1B0GVZ2	414
UBAP2	MAN1A2	O60476	404
UBAP2	SLCO1B7	G3V0H7	400
UBAP2	UBAP1	Q9NZ09	391
UBAP2	KGD4	P82909	372
UBAP2	STARD9	Q9P2P6	369
UBAP2	LSMEM2	Q8N112	360
UBAP2	ITCH	Q96J02	358
UBAP2	ZMYM2	Q9UBW7	358
UBAP2	DIP2C	Q9Y2E4	357
UBAP2	NUFIP2	Q7Z417	353
UBAP2	LRR1	Q96L50	352

IntAct

201 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
KRTAP15-1	UBAP2	psi-mi:“MI:0915”(physical association)	0.560
C10orf55	UBAP2	psi-mi:“MI:0915”(physical association)	0.560
DAZAP2	UBAP2	psi-mi:“MI:0915”(physical association)	0.560
CREM	UBAP2	psi-mi:“MI:0915”(physical association)	0.560
NUTF2	UBAP2	psi-mi:“MI:0915”(physical association)	0.560
UBAP2	TFG	psi-mi:“MI:0915”(physical association)	0.560
FNDC3B	UBAP2	psi-mi:“MI:0915”(physical association)	0.560
EFHC1	UBAP2	psi-mi:“MI:0915”(physical association)	0.560
PSMB8	UBAP2	psi-mi:“MI:0915”(physical association)	0.560
UBAP2	NOXA1	psi-mi:“MI:0915”(physical association)	0.560
FOXH1	UBAP2	psi-mi:“MI:0915”(physical association)	0.560
UBAP2	SPAG8	psi-mi:“MI:0915”(physical association)	0.560
JMJD7	UBAP2	psi-mi:“MI:0915”(physical association)	0.560
UBAP2	ATPAF2	psi-mi:“MI:0915”(physical association)	0.560
UBAP2	RBPMS	psi-mi:“MI:0915”(physical association)	0.560
PRSS53	UBAP2	psi-mi:“MI:0915”(physical association)	0.560
	UBAP2	psi-mi:“MI:0915”(physical association)	0.560
TP53BP1	UBAP2	psi-mi:“MI:0915”(physical association)	0.560
VPS37C	UBAP2	psi-mi:“MI:0915”(physical association)	0.560
UBAP2	SPMIP9	psi-mi:“MI:0915”(physical association)	0.560
LCK	UBAP2	psi-mi:“MI:0915”(physical association)	0.560
FAM168B	UBAP2	psi-mi:“MI:0915”(physical association)	0.560
UBAP2	NPAS2	psi-mi:“MI:0915”(physical association)	0.560
UBAP2	TEP1	psi-mi:“MI:0915”(physical association)	0.560
PPP2CA	UBAP2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (209): UBAP2 (Affinity Capture-MS), UBAP2 (Affinity Capture-MS), UBAP2 (Affinity Capture-MS), UBAP2 (Affinity Capture-MS), UBAP2 (Affinity Capture-MS), UBAP2 (Affinity Capture-MS), UBAP2 (Affinity Capture-MS), UBAP2 (Proximity Label-MS), UBAP2 (Affinity Capture-MS), UBAP2 (Proximity Label-MS), UBAP2 (Affinity Capture-MS), UBAP2 (Affinity Capture-MS), GORASP2 (Affinity Capture-MS), UBAP2 (Affinity Capture-MS), UBAP2 (Affinity Capture-MS)

ESM2 similar proteins: A0A087WPF7, A0A0R4IBL7, O09000, O54972, O70305, O75081, O75376, P15806, P15881, P15884, P15923, P21677, P30985, P51514, P98180, Q05AQ8, Q14157, Q14687, Q1LY51, Q2VPM4, Q3U3C9, Q4KKX4, Q4VCS5, Q566L4, Q5F3B1, Q5SFM8, Q5T6F2, Q60722, Q60974, Q61286, Q62655, Q6DIH5, Q7ZWN6, Q7ZXS3, Q80X50, Q86YP4, Q8BZ47, Q8CHY6, Q8IXK0, Q8VHG2

Diamond homologs: Q14157, Q5T6F2, Q80X50, Q86S05, Q91VX2, Q16VD3, Q290X3, Q7PMS9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
UBAP2	“down-regulates quantity”	ANXA2	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 122 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
mRNA 3’-end processing	5	12.5×	6e-03
mRNA Polyadenylation	7	7.8×	6e-03
mRNA Splicing - Major Pathway	9	6.2×	6e-03
Dengue Virus-Host Interactions	9	5.2×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
mRNA transport	9	21.9×	2e-07
regulation of alternative mRNA splicing, via spliceosome	7	15.8×	1e-04
negative regulation of translation	6	10.9×	3e-03
mRNA splicing, via spliceosome	8	6.8×	3e-03
mRNA processing	9	6.6×	2e-03
RNA splicing	8	6.5×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	164
Likely benign	15
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

5330 predictions. Top by Δscore:

Variant	Effect	Δscore
9:33922598:CT:C	acceptor_gain	1.0000
9:33922874:AAAGT:A	acceptor_gain	1.0000
9:33922875:AAGT:A	acceptor_gain	1.0000
9:33922876:AGT:A	acceptor_gain	1.0000
9:33922877:GT:G	acceptor_gain	1.0000
9:33922878:TC:T	acceptor_loss	1.0000
9:33922879:C:CA	acceptor_loss	1.0000
9:33922879:C:CC	acceptor_gain	1.0000
9:33922887:C:CT	acceptor_gain	1.0000
9:33922888:A:T	acceptor_gain	1.0000
9:33923293:CCTAG:C	acceptor_loss	1.0000
9:33923295:T:C	acceptor_loss	1.0000
9:33923373:CCTCA:C	donor_loss	1.0000
9:33923374:CTCAC:C	donor_loss	1.0000
9:33923375:TCACC:T	donor_loss	1.0000
9:33923376:CAC:C	donor_loss	1.0000
9:33923378:C:CA	donor_loss	1.0000
9:33923478:CCTG:C	acceptor_loss	1.0000
9:33924201:CTCA:C	donor_loss	1.0000
9:33924202:TCAC:T	donor_loss	1.0000
9:33924203:CACCT:C	donor_loss	1.0000
9:33924204:A:C	donor_loss	1.0000
9:33924282:GTCCT:G	acceptor_loss	1.0000
9:33924285:C:CC	acceptor_gain	1.0000
9:33924285:CT:C	acceptor_loss	1.0000
9:33924286:T:G	acceptor_loss	1.0000
9:33926616:CCA:C	donor_gain	1.0000
9:33935837:A:AC	donor_gain	1.0000
9:33935838:C:CC	donor_gain	1.0000
9:33935838:CTGT:C	donor_gain	1.0000

AlphaMissense

7235 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:33996287:A:G	L75P	1.000
9:33996332:A:G	L60P	1.000
9:33989120:A:G	W99R	0.999
9:33989120:A:T	W99R	0.999
9:33996242:A:G	L90P	0.999
9:33996257:G:T	A85D	0.999
9:33996258:C:G	A85P	0.999
9:33996291:C:G	A74P	0.999
9:33996332:A:T	L60H	0.999
9:33998794:A:T	V57D	0.999
9:33989118:C:A	W99C	0.998
9:33989118:C:G	W99C	0.998
9:33956127:A:G	F273S	0.997
9:33996245:A:G	L89S	0.997
9:33996254:A:T	I86N	0.997
9:33996284:T:G	H76P	0.997
9:33996287:A:T	L75Q	0.997
9:33996290:G:T	A74D	0.997
9:33996332:A:C	L60R	0.997
9:33998842:A:G	L41P	0.997
9:33956126:G:C	F273L	0.996
9:33956126:G:T	F273L	0.996
9:33956128:A:G	F273L	0.996
9:33996287:A:C	L75R	0.996
9:33996320:G:T	T64K	0.996
9:33998839:G:T	A42D	0.995
9:33943567:A:G	M523T	0.994
9:33996298:G:C	C71W	0.994
9:33996300:A:G	C71R	0.994
9:33996320:G:C	T64R	0.994

dbSNP variants (sampled 300 via entrez): RS1000007363 (9:34017843 C>T), RS1000038323 (9:34018321 A>C,G), RS1000039260 (9:34023979 G>GT), RS1000073711 (9:33930921 G>A), RS1000080939 (9:33978325 A>G), RS1000101712 (9:33947256 C>T), RS1000121542 (9:33937469 G>T), RS1000142264 (9:33932400 A>C), RS1000150108 (9:33931394 T>C), RS1000170935 (9:34023754 A>G), RS1000183542 (9:33983788 A>G), RS1000201762 (9:34028806 GA>G,GAA), RS1000221711 (9:33990432 T>G), RS1000315834 (9:33949640 T>C,G), RS1000340175 (9:33931209 T>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST004863_1	Mosquito bite size	2.000000e-06
GCST006865_1	Bipolar disorder	5.000000e-06
GCST006867_111	Type 2 diabetes	1.000000e-09
GCST006979_161	Heel bone mineral density	9.000000e-13
GCST008058_142	Estimated glomerular filtration rate	9.000000e-15
GCST008059_152	Estimated glomerular filtration rate	2.000000e-11
GCST009325_51	Parkinson’s disease or first degree relation to individual with Parkinson’s disease	7.000000e-09
GCST009379_86	Type 2 diabetes	3.000000e-10
GCST010002_319	Refractive error	4.000000e-13
GCST010988_395	Adult body size	9.000000e-10
GCST011320_21	Type 2 diabetes or prostate cancer (pleiotropy)	1.000000e-12
GCST011494_44	Daytime nap	3.000000e-10
GCST90002385_380	High light scatter reticulocyte count	2.000000e-37
GCST90002386_424	High light scatter reticulocyte percentage of red cells	3.000000e-40
GCST90002388_218	Lymphocyte count	1.000000e-11
GCST90002397_679	Mean spheric corpuscular volume	8.000000e-12
GCST90002405_531	Reticulocyte count	3.000000e-20
GCST90002406_322	Reticulocyte fraction of red cells	6.000000e-24
GCST90011900_214	Serum alkaline phosphatase levels	3.000000e-14

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0008378	mosquito bite reaction size measurement
EFO:0009270	heel bone mineral density
EFO:0007828	daytime rest measurement
EFO:0007986	reticulocyte count
EFO:0004587	lymphocyte count
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067203 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 3 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.35	Kd	4502	nM	CHEMBL5653589
5.35	ED50	4502	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149704: Binding affinity to human UBAP2 incubated for 45 mins by Kinobead based pull down assay	kd	4.5017	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation	3
Acetaminophen	increases expression	2
Benzo(a)pyrene	decreases methylation, increases expression	2
Lead	affects methylation, decreases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
cobaltous chloride	affects expression, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
LDN 193189	affects cotreatment, decreases expression	1
Atrazine	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Caffeine	affects phosphorylation	1
Dactinomycin	affects cotreatment, increases secretion	1
Dimethyl Sulfoxide	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Quercetin	increases expression	1
Ribonucleotides	affects binding	1
Selenium	decreases expression	1
Urethane	increases expression	1
Valproic Acid	increases expression	1
Vincristine	decreases expression	1
Vitamin E	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652746	Binding	Binding affinity to human UBAP2 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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