PRRC2A

Summary

PRRC2A (proline rich coiled-coil 2A, HGNC:13918) is a protein-coding gene on chromosome 6p21.33, encoding Protein PRRC2A (P48634). May play a role in the regulation of pre-mRNA splicing. It is a selective cancer dependency (DepMap: 51.6% of cell lines).

A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. Two transcript variants encoding the same protein have been found for this gene.

Source: NCBI Gene 7916 — RefSeq curated summary.

At a glance

• GWAS associations: 72
• Clinical variants (ClinVar): 502 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 51.6% of screened cell lines
• MANE Select transcript: NM_004638

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13918
Approved symbol	PRRC2A
Name	proline rich coiled-coil 2A
Location	6p21.33
Locus type	gene with protein product
Status	Approved
Aliases	G2, D6S51E
Ensembl gene	ENSG00000204469
Ensembl biotype	protein_coding
OMIM	142580
Entrez	7916

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 11 retained_intron, 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000376007, ENST00000376033, ENST00000460302, ENST00000462617, ENST00000464079, ENST00000464890, ENST00000469501, ENST00000469577, ENST00000482441, ENST00000483470, ENST00000484787, ENST00000487089, ENST00000487839, ENST00000492691

RefSeq mRNA: 2 — MANE Select: NM_004638 NM_004638, NM_080686

CCDS: CCDS4708

Canonical transcript exons

ENST00000376033 — 31 exons

Exon	Start	End
ENSE00001618282	31627765	31628239
ENSE00001640112	31635582	31635749
ENSE00001654379	31633379	31633647
ENSE00001656800	31620715	31620858
ENSE00001670927	31633859	31633989
ENSE00001676438	31629144	31629334
ENSE00001684456	31634753	31634977
ENSE00001691030	31634236	31634365
ENSE00001722129	31631139	31632992
ENSE00001723750	31635394	31635465
ENSE00001742826	31635132	31635272
ENSE00001745121	31634472	31634557
ENSE00001749687	31623732	31623909
ENSE00001753484	31629548	31629845
ENSE00001770302	31630591	31630801
ENSE00001787578	31626982	31627198
ENSE00001802292	31622690	31622901
ENSE00001803541	31635967	31636049
ENSE00003503278	31625792	31625871
ENSE00003512392	31636510	31636608
ENSE00003520110	31625171	31625314
ENSE00003521709	31636209	31636419
ENSE00003538153	31625460	31625611
ENSE00003563345	31624450	31624522
ENSE00003588094	31626772	31626862
ENSE00003597246	31637042	31637136
ENSE00003657012	31624261	31624360
ENSE00003660134	31626020	31626162
ENSE00003663325	31637446	31637771
ENSE00003684059	31636733	31636945
ENSE00003687528	31637234	31637324

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 110.9678 / max 584.1551, expressed in 1827 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66981	68.2547	1823
66982	30.0915	1801
66980	8.8393	1771
66999	0.8485	504
66990	0.5817	296
66983	0.5774	288
66998	0.4680	212
66989	0.4668	232
66991	0.4549	227
66984	0.3850	183

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	99.28	gold quality
left testis	UBERON:0004533	99.26	gold quality
ventricular zone	UBERON:0003053	98.73	gold quality
pituitary gland	UBERON:0000007	98.62	gold quality
adenohypophysis	UBERON:0002196	98.59	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.50	gold quality
right frontal lobe	UBERON:0002810	98.38	gold quality
cerebellar cortex	UBERON:0002129	98.24	gold quality
cerebellar hemisphere	UBERON:0002245	98.24	gold quality
cerebellum	UBERON:0002037	98.22	gold quality
ganglionic eminence	UBERON:0004023	98.21	gold quality
prostate gland	UBERON:0002367	98.20	gold quality
lower esophagus mucosa	UBERON:0035834	98.15	gold quality
right uterine tube	UBERON:0001302	98.13	gold quality
left uterine tube	UBERON:0001303	98.13	gold quality
right ovary	UBERON:0002118	98.07	gold quality
amygdala	UBERON:0001876	98.04	gold quality
apex of heart	UBERON:0002098	98.04	gold quality
spleen	UBERON:0002106	98.02	gold quality
right lobe of thyroid gland	UBERON:0001119	98.01	gold quality
temporal lobe	UBERON:0001871	98.01	gold quality
left ovary	UBERON:0002119	97.98	gold quality
testis	UBERON:0000473	97.93	gold quality
metanephros cortex	UBERON:0010533	97.93	gold quality
primary visual cortex	UBERON:0002436	97.92	gold quality
body of uterus	UBERON:0009853	97.90	gold quality
left lobe of thyroid gland	UBERON:0001120	97.88	gold quality
endocervix	UBERON:0000458	97.87	gold quality
ovary	UBERON:0000992	97.86	gold quality
cortical plate	UBERON:0005343	97.85	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.71
E-MTAB-6142	no	19.88

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFKBIL1

miRNA regulators (miRDB)

16 targeting PRRC2A, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-501-5P	98.77	68.88	1328
HSA-MIR-500A-5P	98.76	69.13	1241
HSA-MIR-6783-5P	97.67	67.21	1528
HSA-MIR-3144-5P	97.64	65.45	646
HSA-MIR-6805-5P	95.79	64.86	670
HSA-MIR-10396A-3P	93.99	62.06	94
HSA-MIR-10396B-3P	93.99	62.06	94

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 51.6% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 10)

• An analysis of 2,162 case-controls demonstrated the first evidence of association between a BAT2 polymorphism (rs1046089) and severe malaria. (PMID:19039607)
• BAT2, MC4R, FTO, Sec16B, SH2B1 genes are associated with genetic susceptibility to obesity in Chinese women. (PMID:20616199)
• Results suggest BAT2 -8671, BAT3 8854, and BAT5 22655, 9569 SNPs as well as BAT haplotypes (ATTGTG and ATCATG) might be associated with higher Kawasaki disease susceptibility and coronary artery aneurysm formation. (PMID:20626023)
• Data indicate that BCL2L11 rs3789068 was associated with an increased risk for B-cell non-Hodgkin lymphoma (NHL), and PRRC2A rs3132453 conferred a reduced risk of B-cell NHL. (PMID:23047821)
• Single nucleotide polymorphisms at C6orf48, BAT2 and ZBTB12 are associated with estrogen receptor positive breast cancer in the Chinese Han population. (PMID:23079975)
• Data show the synthetic effect of SNPs on the indices of adiposity and risk of obesity in Chinese girls, but failed to replicate the effect of five separate variants of SEC16B rs10913469, SH2B1 rs4788102, PCSK1 rs6235, KCTD15 rs29941 and BAT2 rs2844479. (PMID:23121087)
• Single-nucleotide polymorphism in the BAT2 gene is associated with lung cancer susceptibility. (PMID:23221128)
• The BAT2/BAT3 polymorphisms and specifically the A/C haplotype may represent a novel immunogenetic factor associated with graft rejection in patients undergoing allo-HSCT. (PMID:25111513)
• Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population. (PMID:32862241)
• The m6A reader PRRC2A is essential for meiosis I completion during spermatogenesis. (PMID:36964127)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	prrc2a	ENSDARG00000031494
mus_musculus	Prrc2a	ENSMUSG00000024393
rattus_norvegicus	Prrc2a	ENSRNOG00000000852
caenorhabditis_elegans		WBGENE00018710

Paralogs (2): PRRC2C (ENSG00000117523), PRRC2B (ENSG00000288701)

Protein

Protein identifiers

Protein PRRC2A — P48634 (reviewed: P48634)

Alternative names: HLA-B-associated transcript 2, Large proline-rich protein BAT2, Proline-rich and coiled-coil-containing protein 2A, Protein G2

All UniProt accessions (2): A0A1U9X974, P48634

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in the regulation of pre-mRNA splicing.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Limited to cell-lines of leukemic origin.

Isoforms (4)

UniProt ID	Names	Canonical?
P48634-1	1	yes
P48634-2	2
P48634-3	3
P48634-4	4

RefSeq proteins (2): NP_004629, NP_542417 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009738	BAT2_N	Domain
IPR033184	PRRC2	Family

Pfam: PF07001

UniProt features (154 total): modified residue 54, compositionally biased region 39, sequence variant 24, sequence conflict 13, repeat 9, region of interest 9, splice variant 5, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P48634-F1	40.07	0.01

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 (54): 1325, 1328, 1347, 1353, 1384, 1386, 1525, 1778, 2036, 2076, 2082, 2113, 18, 19, 27, 30, 35, 146, 166, 204 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 105 (showing top): CEBP_Q2, HFH3_01, LIAO_METASTASIS, LYF1_01, AACTTT_UNKNOWN, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, CREB_Q3, POU3F2_02, FAELT_B_CLL_WITH_VH3_21_UP, OCT1_B, CCCNNGGGAR_OLF1_01, WILCOX_RESPONSE_TO_PROGESTERONE_DN, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, MARSON_BOUND_BY_FOXP3_STIMULATED, LAIHO_COLORECTAL_CANCER_SERRATED_DN

GO Biological Process (1): cell differentiation (GO:0030154)

GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (7): nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), extracellular exosome (GO:0070062), nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cellular developmental process	1
nucleic acid binding	1
binding	1
nuclear lumen	1
cytoplasm	1
membrane	1
cell periphery	1
extracellular vesicle	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1830 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRRC2A	YTHDF1	Q9BYJ9	745
PRRC2A	ABHD16A	O95870	741
PRRC2A	GPANK1	O95872	715
PRRC2A	BAG6	P46379	710
PRRC2A	METTL3	Q86U44	709
PRRC2A	YTHDC1	Q96MU7	701
PRRC2A	YTHDC2	Q9H6S0	698
PRRC2A	YTHDF3	Q7Z739	693
PRRC2A	YTHDF2	Q9Y5A9	693
PRRC2A	SYN3	O14994	639
PRRC2A	HNRNPC	P07910	615
PRRC2A	HNRNPA2B1	P22626	614
PRRC2A	FMR1	Q06787	610
PRRC2A	HLA-B	P01889	573
PRRC2A	METTL14	Q9HCE5	567

IntAct

218 interactions, top by confidence:

A	B	Type	Score
CLOCK	BMAL1	psi-mi:“MI:0914”(association)	0.880
NCK2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.640
CHCHD10	CLPX	psi-mi:“MI:0914”(association)	0.640
CALCOCO2	TBKBP1	psi-mi:“MI:0914”(association)	0.640
RACK1	RIOK3	psi-mi:“MI:0914”(association)	0.640
SUMO1	CBX4	psi-mi:“MI:0914”(association)	0.600
PRRC2A	GRB2	psi-mi:“MI:0915”(physical association)	0.550
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
KIF2C	KIF2A	psi-mi:“MI:0914”(association)	0.530
EZH1	EPOP	psi-mi:“MI:0914”(association)	0.530
PAIP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
PNMA2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
PRRC2A	JUN	psi-mi:“MI:0915”(physical association)	0.520
FMR1	ACOT7	psi-mi:“MI:0914”(association)	0.500
KIF1C	KIF1B	psi-mi:“MI:2364”(proximity)	0.480
PRRC2A	H2BC21	psi-mi:“MI:0915”(physical association)	0.400
PRRC2A	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
PRRC2A	sctL	psi-mi:“MI:0915”(physical association)	0.370
PRRC2A	ompA	psi-mi:“MI:0915”(physical association)	0.370
EWSR1	PRRC2A	psi-mi:“MI:0915”(physical association)	0.370
GORASP2	PRRC2A	psi-mi:“MI:0915”(physical association)	0.370
Eif3a	RPSA	psi-mi:“MI:0914”(association)	0.350
NOP56	C12orf43	psi-mi:“MI:0914”(association)	0.350
EXOSC2	WDR46	psi-mi:“MI:0914”(association)	0.350
NS1	SAC3D1	psi-mi:“MI:0914”(association)	0.350
OCRL	MYO1C	psi-mi:“MI:0914”(association)	0.350
NBEAL2	HAX1	psi-mi:“MI:0914”(association)	0.350
DICER1	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
TNIP2	CHUK	psi-mi:“MI:0914”(association)	0.350

BioGRID (502): PRRC2A (Affinity Capture-MS), PRRC2A (Affinity Capture-MS), PRRC2A (Affinity Capture-MS), PRRC2A (Affinity Capture-MS), EIF3E (Two-hybrid), IMMT (Two-hybrid), IFT88 (Two-hybrid), UBAP2L (Two-hybrid), C1QBP (Two-hybrid), HNRNPA1 (Two-hybrid), HNRNPM (Two-hybrid), PRRC2A (Affinity Capture-MS), PRRC2A (Affinity Capture-MS), PRRC2A (Affinity Capture-MS), PRRC2A (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IZ84, A0JMU8, A1L1K8, A5D7H5, B2RRE7, O15234, O60293, O75420, P48634, P61129, P61406, Q04637, Q14444, Q1ECZ4, Q1LZB6, Q3TLH4, Q5CZI8, Q5JSZ5, Q5JVS0, Q5M9G3, Q5RAK6, Q5TM26, Q5U236, Q5VK71, Q5XJD3, Q60865, Q6IMN6, Q6MG48, Q6NZJ6, Q7TPM1, Q7TQG1, Q7TQH0, Q7TSC1, Q80XI3, Q86US8, Q8BWW4, Q8BXJ2, Q8BYK8, Q8K3W3, Q8K3X0

Diamond homologs: P48634, Q3TLH4, Q5JSZ5, Q5TM26, Q6MG48, Q7TPM1, Q7TSC1, Q9SB63, Q9Y520

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 255 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
Ribosomal scanning and start codon recognition	15	16.1×	5e-12
Formation of the ternary complex, and subsequently, the 43S complex	13	15.8×	2e-10
Translation initiation complex formation	14	15.1×	6e-11
SARS-CoV-1 modulates host translation machinery	8	13.9×	4e-06
SARS-CoV-1-host interactions	13	12.9×	2e-09
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	8	12.3×	9e-06
Eukaryotic Translation Initiation	7	12.2×	4e-05
Cap-dependent Translation Initiation	7	12.2×	4e-05

GO biological processes:

GO term	Partners	Fold	FDR
formation of cytoplasmic translation initiation complex	7	33.8×	3e-07
negative regulation of mRNA splicing, via spliceosome	5	16.4×	1e-03
translational initiation	10	15.4×	3e-07
regulation of translational initiation	6	12.1×	1e-03
cytoplasmic translation	14	11.1×	4e-08
mRNA transport	9	10.2×	5e-05
negative regulation of translation	12	10.1×	8e-07
ribosomal small subunit biogenesis	9	8.8×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	369
Likely benign	41
Benign	41

Top pathogenic / likely-pathogenic (0)

SpliceAI

3540 predictions. Top by Δscore:

Variant	Effect	Δscore
6:31620854:GCCAG:G	donor_gain	1.0000
6:31620856:CAGG:C	donor_loss	1.0000
6:31620857:AGGTG:A	donor_loss	1.0000
6:31620859:GTGA:G	donor_loss	1.0000
6:31620860:T:A	donor_loss	1.0000
6:31623873:G:GT	donor_gain	1.0000
6:31623879:C:T	donor_gain	1.0000
6:31624257:TCA:T	acceptor_loss	1.0000
6:31624258:CA:C	acceptor_loss	1.0000
6:31624259:A:AG	acceptor_gain	1.0000
6:31624259:AGTTC:A	acceptor_loss	1.0000
6:31624260:G:GA	acceptor_gain	1.0000
6:31624260:GT:G	acceptor_gain	1.0000
6:31624260:GTT:G	acceptor_gain	1.0000
6:31624260:GTTC:G	acceptor_gain	1.0000
6:31624260:GTTCC:G	acceptor_gain	1.0000
6:31624358:GAGGT:G	donor_loss	1.0000
6:31624359:AGGTA:A	donor_loss	1.0000
6:31624361:GT:G	donor_loss	1.0000
6:31624362:T:G	donor_loss	1.0000
6:31625156:T:G	acceptor_gain	1.0000
6:31625162:T:G	acceptor_gain	1.0000
6:31625168:TAGG:T	acceptor_loss	1.0000
6:31625261:A:T	donor_gain	1.0000
6:31625265:G:GT	donor_gain	1.0000
6:31625315:G:GG	donor_gain	1.0000
6:31625451:A:AG	acceptor_gain	1.0000
6:31625452:A:G	acceptor_gain	1.0000
6:31625612:G:GG	donor_gain	1.0000
6:31625649:G:GT	donor_gain	1.0000

AlphaMissense

13643 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:31623875:T:A	W86R	1.000
6:31623875:T:C	W86R	1.000
6:31623877:G:C	W86C	1.000
6:31623877:G:T	W86C	1.000
6:31626158:G:C	W326C	1.000
6:31626158:G:T	W326C	1.000
6:31627877:G:C	R468P	1.000
6:31627883:G:C	R470P	1.000
6:31627886:G:C	R471P	1.000
6:31627901:G:C	R476P	1.000
6:31627904:G:C	R477P	1.000
6:31627943:T:C	L490P	1.000
6:31627952:T:C	L493P	1.000
6:31629758:T:A	W723R	1.000
6:31629758:T:C	W723R	1.000
6:31632442:T:C	F1257L	1.000
6:31632444:C:A	F1257L	1.000
6:31632444:C:G	F1257L	1.000
6:31632634:T:A	W1321R	1.000
6:31632634:T:C	W1321R	1.000
6:31632636:G:C	W1321C	1.000
6:31632636:G:T	W1321C	1.000
6:31622856:T:C	F23L	0.999
6:31622858:T:A	F23L	0.999
6:31622858:T:G	F23L	0.999
6:31623755:A:C	S46R	0.999
6:31623757:T:A	S46R	0.999
6:31623757:T:G	S46R	0.999
6:31623761:G:T	G48W	0.999
6:31623762:G:A	G48E	0.999

dbSNP variants (sampled 300 via entrez): RS1000514817 (6:31623675 G>A), RS1000695148 (6:31627700 A>C,G), RS1000774533 (6:31638226 G>A,C,T), RS1001067598 (6:31630042 C>T), RS1001254386 (6:31620924 T>C), RS1001287409 (6:31620695 G>T), RS1001306318 (6:31621046 C>G,T), RS1001412765 (6:31632569 C>T), RS1002192198 (6:31625197 C>A,G), RS1002270619 (6:31619912 C>A,T), RS1002429562 (6:31625019 C>T), RS1002708077 (6:31619575 A>G), RS1002931472 (6:31621859 A>G), RS1003130946 (6:31625792 A>C,G), RS1003243989 (6:31624746 G>A,T)

Disease associations

OMIM: gene MIM:142580 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

72 associations (top):

Study	Trait	p-value
GCST000984_8	Idiopathic membranous nephropathy	7.000000e-57
GCST000984_9	Idiopathic membranous nephropathy	1.000000e-56
GCST001227_1	Systolic blood pressure	2.000000e-11
GCST001228_19	Diastolic blood pressure	3.000000e-11
GCST001238_6	Hypertension	1.000000e-10
GCST001381_17	Menopause (age at onset)	2.000000e-16
GCST001812_2	Epstein-Barr virus immune response (EBNA-1)	2.000000e-10
GCST001851_7	Schizophrenia	4.000000e-06
GCST002453_3	Ulcerative colitis	5.000000e-14
GCST002647_137	Height	3.000000e-29
GCST002876_5	Type 1 diabetes and autoimmune thyroid diseases	5.000000e-25
GCST004131_25	Inflammatory bowel disease	2.000000e-31
GCST004133_79	Ulcerative colitis	5.000000e-65
GCST004521_114	Autism spectrum disorder or schizophrenia	3.000000e-17
GCST004521_117	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_126	Autism spectrum disorder or schizophrenia	2.000000e-10
GCST004521_154	Autism spectrum disorder or schizophrenia	3.000000e-08
GCST004521_17	Autism spectrum disorder or schizophrenia	2.000000e-12
GCST004521_209	Autism spectrum disorder or schizophrenia	5.000000e-16
GCST004521_211	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_213	Autism spectrum disorder or schizophrenia	5.000000e-13
GCST004521_227	Autism spectrum disorder or schizophrenia	4.000000e-12
GCST004521_265	Autism spectrum disorder or schizophrenia	7.000000e-14
GCST004521_281	Autism spectrum disorder or schizophrenia	5.000000e-09
GCST004521_45	Autism spectrum disorder or schizophrenia	2.000000e-16
GCST004521_70	Autism spectrum disorder or schizophrenia	8.000000e-20
GCST004521_81	Autism spectrum disorder or schizophrenia	1.000000e-14
GCST004776_24	Systolic blood pressure	6.000000e-06
GCST004777_12	Diastolic blood pressure	4.000000e-06
GCST005829_18	Hand grip strength	7.000000e-12

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0006336	diastolic blood pressure
EFO:0004704	age at menopause
EFO:0006941	grip strength measurement
EFO:0004509	hemoglobin measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0009863	anxiety measurement
EFO:0009101	age at first birth measurement
EFO:0007984	platelet component distribution width
EFO:0004340	body mass index
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066886 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

3 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs10885	Toxicity	3	carboplatin;gemcitabine	Non-Small Cell Lung Carcinoma;Thrombocytopenia
rs11229	Toxicity	3	carboplatin;gemcitabine	Non-Small Cell Lung Carcinoma;Thrombocytopenia
rs750332	Toxicity	3	carbamazepine

PharmGKB variants

3 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs750332	BAG6, PRRC2A	3	3.00	1	carbamazepine
rs10885	PRRC2A	3	2.50	1	carboplatin;gemcitabine
rs11229	PRRC2A	3	2.50	1	carboplatin;gemcitabine

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
7.19	Kd	63.95	nM	CHEMBL5653589
7.19	ED50	63.95	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 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	2149096: Binding affinity to human PRRC2A incubated for 45 mins by Kinobead based pull down assay	kd	0.0640	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, decreases expression	2
sodium arsenite	increases expression, affects cotreatment, decreases expression, increases abundance	2
Resveratrol	affects cotreatment, decreases expression, increases expression	2
Air Pollutants	affects expression, increases abundance, decreases expression	2
Arsenic	decreases expression, increases abundance, increases expression, affects methylation, affects cotreatment	2
Plant Extracts	affects cotreatment, decreases expression, increases expression	2
Smoke	decreases expression, increases abundance	2
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
beta-lapachone	decreases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
coumarin	affects phosphorylation	1
CGP 52608	affects binding, increases reaction	1
ICG 001	decreases expression	1
abrine	increases expression	1
eprenetapopt	affects expression, affects reaction	1
bisphenol S	decreases methylation	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Caffeine	affects phosphorylation	1
Catechin	increases expression	1
Cisplatin	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
CHEMBL5652138	Binding	Binding affinity to human PRRC2A 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.