BCAS2

Summary

BCAS2 (BCAS2 pre-mRNA processing factor, HGNC:975) is a protein-coding gene on chromosome 1p13.2, encoding Pre-mRNA-splicing factor SPF27 (O75934). Required for pre-mRNA splicing as component of the activated spliceosome. It is a common-essential gene (DepMap: required in 97.4% of cancer cell lines).

Involved in mRNA splicing, via spliceosome. Located in DNA replication factor A complex; centrosome; and nuclear speck. Part of Prp19 complex and U2-type catalytic step 2 spliceosome. Implicated in breast cancer.

Source: NCBI Gene 10286 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 24 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 97.4% of screened cell lines (common-essential)
• MANE Select transcript: NM_005872

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:975
Approved symbol	BCAS2
Name	BCAS2 pre-mRNA processing factor
Location	1p13.2
Locus type	gene with protein product
Status	Approved
Aliases	DAM1, SPF27, Snt309
Ensembl gene	ENSG00000116752
Ensembl biotype	protein_coding
OMIM	605783
Entrez	10286

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000369541, ENST00000485021, ENST00000886259, ENST00000886260, ENST00000918497, ENST00000968204, ENST00000968205

RefSeq mRNA: 1 — MANE Select: NM_005872 NM_005872

CCDS: CCDS874

Canonical transcript exons

ENST00000369541 — 7 exons

Exon	Start	End
ENSE00000784381	114576688	114576758
ENSE00001450297	114567557	114568256
ENSE00001450298	114581499	114581615
ENSE00003489595	114581299	114581391
ENSE00003564914	114569992	114570072
ENSE00003661043	114570700	114570750
ENSE00003685126	114575590	114575751

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 97.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 50.4602 / max 664.7939, expressed in 1810 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
13948	47.1269	1807
13949	3.3333	1483

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	97.61	gold quality
calcaneal tendon	UBERON:0003701	97.09	gold quality
palpebral conjunctiva	UBERON:0001812	96.98	gold quality
cervix squamous epithelium	UBERON:0006922	96.75	gold quality
gluteal muscle	UBERON:0002000	96.74	gold quality
pons	UBERON:0000988	96.59	gold quality
oocyte	CL:0000023	96.49	gold quality
endothelial cell	CL:0000115	96.29	gold quality
lower esophagus mucosa	UBERON:0035834	95.88	gold quality
islet of Langerhans	UBERON:0000006	95.85	gold quality
parietal pleura	UBERON:0002400	95.75	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.74	gold quality
substantia nigra pars compacta	UBERON:0001965	95.71	gold quality
hair follicle	UBERON:0002073	95.69	gold quality
biceps brachii	UBERON:0001507	95.68	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.54	gold quality
orbitofrontal cortex	UBERON:0004167	95.50	gold quality
parotid gland	UBERON:0001831	95.45	gold quality
heart right ventricle	UBERON:0002080	95.27	gold quality
hypothalamus	UBERON:0001898	95.26	gold quality
pleura	UBERON:0000977	95.21	gold quality
superior vestibular nucleus	UBERON:0007227	95.21	gold quality
tibia	UBERON:0000979	95.20	gold quality
corpus epididymis	UBERON:0004359	95.11	gold quality
sperm	CL:0000019	95.10	gold quality
substantia nigra	UBERON:0002038	95.10	gold quality
ganglionic eminence	UBERON:0004023	94.99	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.97	gold quality
cauda epididymis	UBERON:0004360	94.90	gold quality
midbrain	UBERON:0001891	94.89	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-30	no	141.38
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESRRB

miRNA regulators (miRDB)

29 targeting BCAS2, 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-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-589-3P	99.91	69.62	2088
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-4255	99.72	67.70	1541
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-425-5P	99.59	67.67	900
HSA-MIR-3682-3P	99.58	67.63	865
HSA-MIR-486-5P	99.51	70.39	707
HSA-MIR-7159-3P	99.51	70.17	1920
HSA-MIR-653-5P	99.46	67.35	1300
HSA-MIR-889-5P	99.41	68.75	1025
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-6853-3P	99.36	70.79	1558
HSA-MIR-1272	99.34	68.79	878
HSA-MIR-16-2-3P	99.29	70.60	1954
HSA-MIR-195-3P	99.29	70.61	1954
HSA-MIR-100-3P	99.20	67.33	672
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-4751	98.80	64.95	525
HSA-MIR-6830-3P	98.62	68.07	1760
HSA-MIR-532-5P	98.43	67.53	760
HSA-MIR-1267	98.24	69.05	837
HSA-MIR-4778-5P	97.96	68.06	1634
HSA-MIR-382-5P	96.71	65.90	762
HSA-MIR-6760-3P	96.35	68.31	1001

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 97.4% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 12)

• The BCAS2 gene was amplified in two of 60 primary breast cancer tissues, but not in other cancer cells, providing the first evidence of amplification within this region and indicating that BCAS2 gene codes for a nuclear protein. (PMID:12169396)
• This study suggested that BCAS2 might play an important role in breast cancer development by increasing the estrogen receptor’s function. (PMID:15694360)
• BCAS2 directly interacts with p53 to reduce p53 transcriptional activity by mildly but consistently decreasing p53 protein in the absence of DNA damage. In the presence of DNA damage, BCAS2 prominently reduces p53 protein. (PMID:19903847)
• ERRbeta signalling leads to BCAS2-mediated blockage of the G1/S transition and inhibition of the epithelial to mesenchymal transition through FST-mediated regulation of E-cadherin (PMID:24667650)
• BCAS2 is a novel androgen receptor-interacting protein. (PMID:25461807)
• BCAS2 interacts with HSF4 and negatively regulates its protein stability via ubiquitination. (PMID:26319152)
• These results demonstrate that Aurora B inhibits both direct interaction with the microtubule and oligomerization of the Dam1 complex to drive error correction during mitosis. (PMID:26560693)
• Chromosomal breakpoints involved the BCAS2 gene in 1q31 is associated with Diffuse Large B-Cell Lymphomas. (PMID:27356265)
• Study showed that CDK4 and BCAS2 may be target genes of miR-486 and levels of CDK4 and BCAS2 were both significantly higher in the esophageal cancer tissues and cell lines than levels in the normal tissues and cells. (PMID:29115564)
• BCAS2 is an AF-1 coactivator of ERalpha whose overexpression promotes carcinogenic processes, suggesting an important role in the development of estrogen-receptor positive breast cancer. (PMID:30813351)
• BCAS2, a protein enriched in advanced prostate cancer, interacts with NBS1 to enhance DNA double-strand break repair. (PMID:32963349)
• BCAS2 regulates granulosa cell survival by participating in mRNA alternative splicing. (PMID:37248466)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	bcas2	ENSDARG00000043631
mus_musculus	Bcas2	ENSMUSG00000005687
rattus_norvegicus	Bcas2	ENSRNOG00000018783
drosophila_melanogaster	BCAS2	FBGN0039558
caenorhabditis_elegans		WBGENE00020441

Protein

Protein identifiers

Pre-mRNA-splicing factor SPF27 — O75934 (reviewed: O75934)

Alternative names: Breast carcinoma-amplified sequence 2, DNA amplified in mammary carcinoma 1 protein, Spliceosome-associated protein SPF 27

All UniProt accessions (2): O75934, B2R7W3

UniProt curated annotations — full annotation on UniProt →

Function. Required for pre-mRNA splicing as component of the activated spliceosome. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR).

Subunit / interactions. Component of the pre-catalytic and catalytic spliceosome complexes. Component of the postcatalytic spliceosome P complex. Component of the PRP19-CDC5L splicing complex composed of a core complex comprising a homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2, and at least three less stably associated proteins CTNNBL1, CWC15 and HSPA8. Interacts directly in the complex with PRPF19, CDC5L and PLRG1.

Subcellular location. Nucleus. Nucleolus.

Tissue specificity. Ubiquitously expressed.

Similarity. Belongs to the SPF27 family.

RefSeq proteins (1): NP_005863* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008409	SPF27	Family

Pfam: PF05700

UniProt features (14 total): helix 4, modified residue 2, sequence conflict 2, initiator methionine 1, chain 1, strand 1, coiled-coil region 1, sequence variant 1, turn 1

Structure

Experimental structures (PDB)

22 structures.

PDB	Method	Resolution (Å)
8C6J	ELECTRON MICROSCOPY	2.8
6ID1	ELECTRON MICROSCOPY	2.86
6ID0	ELECTRON MICROSCOPY	2.9
6ICZ	ELECTRON MICROSCOPY	3
8I0T	ELECTRON MICROSCOPY	3
8I0V	ELECTRON MICROSCOPY	3
6QDV	ELECTRON MICROSCOPY	3.3
8I0U	ELECTRON MICROSCOPY	3.3
9FMD	ELECTRON MICROSCOPY	3.3
8I0W	ELECTRON MICROSCOPY	3.4
8RO2	ELECTRON MICROSCOPY	3.5
5XJC	ELECTRON MICROSCOPY	3.6
7W59	ELECTRON MICROSCOPY	3.6
7W5A	ELECTRON MICROSCOPY	3.6
5YZG	ELECTRON MICROSCOPY	4.1
7W5B	ELECTRON MICROSCOPY	4.3
6FF7	ELECTRON MICROSCOPY	4.5
7A5P	ELECTRON MICROSCOPY	5
5Z56	ELECTRON MICROSCOPY	5.1
5MQF	ELECTRON MICROSCOPY	5.9
8CH6	ELECTRON MICROSCOPY	5.9
5Z57	ELECTRON MICROSCOPY	6.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75934-F1	89.36	0.70

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 (2): 2, 94

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-9918481	Dengue Virus-Host Interactions
R-HSA-72172	mRNA Splicing
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 189 (showing top): GOBP_DENDRITE_DEVELOPMENT, GOBP_DENTATE_GYRUS_DEVELOPMENT, GOBP_COGNITION, GOBP_BEHAVIOR, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, GOBP_OOGENESIS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEUROGENESIS, GOBP_FOREBRAIN_DEVELOPMENT, GOCC_NUCLEAR_REPLICATION_FORK, GOBP_OVARIAN_FOLLICLE_DEVELOPMENT, GOBP_CELL_JUNCTION_ORGANIZATION, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, GOBP_HIPPOCAMPUS_DEVELOPMENT, WANG_LMO4_TARGETS_DN

GO Biological Process (10): RNA splicing, via transesterification reactions (GO:0000375), alternative mRNA splicing, via spliceosome (GO:0000380), mRNA splicing, via spliceosome (GO:0000398), ovarian follicle development (GO:0001541), RNA splicing (GO:0008380), protein catabolic process (GO:0030163), oocyte development (GO:0048599), spindle assembly (GO:0051225), mRNA processing (GO:0006397), oogenesis (GO:0048477)

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

GO Cellular Component (10): Prp19 complex (GO:0000974), nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), nucleolus (GO:0005730), centrosome (GO:0005813), nuclear speck (GO:0016607), U2-type catalytic step 2 spliceosome (GO:0071007), catalytic step 2 spliceosome (GO:0071013), DNA replication factor A complex (GO:0005662)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
mRNA Splicing	1
Dengue Virus Infection	1
Processing of Capped Intron-Containing Pre-mRNA	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
germ cell development	2
nuclear lumen	2
nuclear protein-containing complex	2
RNA splicing	1
mRNA splicing, via spliceosome	1
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
female gonad development	1
anatomical structure development	1
macromolecule catabolic process	1
protein metabolic process	1
oocyte differentiation	1
spindle organization	1
chromosome segregation	1
membraneless organelle assembly	1
mRNA metabolic process	1
female gamete generation	1
binding	1
protein-containing complex	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1
ribonucleoprotein complex	1
intracellular membraneless organelle	1
centriole	1
microtubule organizing center	1
nuclear ribonucleoprotein granule	1
U2-type spliceosomal complex	1
U2 snRNP	1
U6 snRNP	1
catalytic step 2 spliceosome	1
Prp19 complex	1
spliceosomal complex	1
U5 snRNP	1
catalytic complex	1
nuclear replisome	1

Protein interactions and networks

STRING

2542 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BCAS2	PLRG1	O43660	997
BCAS2	CDC5L	Q99459	996
BCAS2	PRPF19	Q9UMS4	994
BCAS2	HSPA8	P11142	942
BCAS2	CTNNBL1	Q8WYA6	905
BCAS2	CWC15	Q9P013	902
BCAS2	XAB2	Q9HCS7	870
BCAS2	CDC40	O60508	781
BCAS2	SYF2	O95926	775
BCAS2	CRNKL1	Q9BZJ0	740
BCAS2	PRPF31	Q8WWY3	693
BCAS2	DAD1	P46966	644
BCAS2	MAP3K5	Q99683	631
BCAS2	PRPF6	O94906	560
BCAS2	RBM22	Q9NW64	517
BCAS2	DDX42	Q86XP3	517

IntAct

350 interactions, top by confidence:

A	B	Type	Score
BCAS2	CDC5L	psi-mi:“MI:0915”(physical association)	0.930
BCAS2	GOLGA2	psi-mi:“MI:0915”(physical association)	0.840
GOLGA2	BCAS2	psi-mi:“MI:0915”(physical association)	0.840
BCAS2	AIMP2	psi-mi:“MI:0915”(physical association)	0.780
AIMP2	BCAS2	psi-mi:“MI:0915”(physical association)	0.780
HGS	BCAS2	psi-mi:“MI:0915”(physical association)	0.670
TCF4	BCAS2	psi-mi:“MI:0915”(physical association)	0.670
KRT40	BCAS2	psi-mi:“MI:0915”(physical association)	0.670
IKZF3	BCAS2	psi-mi:“MI:0915”(physical association)	0.670
BCAS2	HGS	psi-mi:“MI:0915”(physical association)	0.670
BCAS2	KRT40	psi-mi:“MI:0915”(physical association)	0.670
BCAS2	IKZF3	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (404): BCAS2 (Two-hybrid), BCAS2 (Two-hybrid), BCAS2 (Two-hybrid), BCAS2 (Two-hybrid), IKZF3 (Two-hybrid), KRT40 (Two-hybrid), BCAS2 (Affinity Capture-RNA), BCAS2 (Affinity Capture-MS), BCAS2 (Affinity Capture-MS), BCAS2 (Affinity Capture-MS), BCAS2 (Affinity Capture-MS), BCAS2 (Affinity Capture-MS), BCAS2 (Affinity Capture-MS), BCAS2 (Affinity Capture-MS), BCAS2 (Affinity Capture-MS)

ESM2 similar proteins: A0A5G2QD80, A8E5U3, A9ULY7, O75934, Q13503, Q13561, Q16891, Q1HQF2, Q28DG8, Q28HX4, Q28Y46, Q2TBU8, Q3ZCF0, Q4R6N3, Q4V909, Q5EA95, Q5FW42, Q5PPY2, Q5R561, Q5RAX7, Q5RE46, Q5REX6, Q5RKQ0, Q5U1Z0, Q5ZKJ4, Q66J30, Q6AYH5, Q6DF11, Q6DFL5, Q6IRB3, Q6IVW0, Q6NY52, Q6PBE2, Q6TA25, Q7K2D2, Q7PZ25, Q7T3H1, Q7ZXA8, Q8BMG7, Q8BXG3

Diamond homologs: O75934, Q5RAX7, Q5RKQ0, Q6PBE2, Q949S9, Q9D287, Q54SG7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
BCAS2	“form complex”	PRP19-CDC5L	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 90 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
Formation of the cornified envelope	9	13.4×	3e-06
Keratinization	11	10.4×	2e-06
mRNA Splicing - Major Pathway	9	8.3×	8e-05

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	8	37.7×	9e-09
intermediate filament organization	9	29.7×	9e-09
epithelial cell differentiation	8	19.2×	2e-06
mRNA splicing, via spliceosome	7	8.8×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	18
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

495 predictions. Top by Δscore:

Variant	Effect	Δscore
1:114568252:CCCAA:C	acceptor_gain	1.0000
1:114568253:CCAA:C	acceptor_gain	1.0000
1:114568253:CCAAC:C	acceptor_gain	1.0000
1:114568254:CAA:C	acceptor_gain	1.0000
1:114568254:CAAC:C	acceptor_gain	1.0000
1:114568255:AA:A	acceptor_gain	1.0000
1:114568257:C:CC	acceptor_gain	1.0000
1:114568257:C:T	acceptor_loss	1.0000
1:114568262:A:AC	acceptor_gain	1.0000
1:114568262:A:C	acceptor_gain	1.0000
1:114569984:ATACT:A	donor_loss	1.0000
1:114569986:AC:A	donor_loss	1.0000
1:114569987:CTC:C	donor_loss	1.0000
1:114569987:CTCA:C	donor_gain	1.0000
1:114569988:TCA:T	donor_loss	1.0000
1:114569989:CAC:C	donor_loss	1.0000
1:114569990:A:AC	donor_gain	1.0000
1:114569990:ACTT:A	donor_loss	1.0000
1:114569991:C:CG	donor_gain	1.0000
1:114569991:CT:C	donor_gain	1.0000
1:114569991:CTT:C	donor_gain	1.0000
1:114569991:CTTTG:C	donor_gain	1.0000
1:114570068:GTTTT:G	acceptor_gain	1.0000
1:114570069:TTTT:T	acceptor_gain	1.0000
1:114570070:TTT:T	acceptor_gain	1.0000
1:114570070:TTTC:T	acceptor_loss	1.0000
1:114570071:TT:T	acceptor_gain	1.0000
1:114570073:C:A	acceptor_loss	1.0000
1:114570073:C:CC	acceptor_gain	1.0000
1:114570074:T:G	acceptor_loss	1.0000

AlphaMissense

1479 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:114568242:A:T	V189D	1.000
1:114568245:A:G	L188P	1.000
1:114568255:A:G	W185R	1.000
1:114568255:A:T	W185R	1.000
1:114570039:C:A	K168N	1.000
1:114570039:C:G	K168N	1.000
1:114570042:T:A	R167S	1.000
1:114570042:T:G	R167S	1.000
1:114570043:C:A	R167I	1.000
1:114570043:C:G	R167T	1.000
1:114570051:G:C	N164K	1.000
1:114570051:G:T	N164K	1.000
1:114575606:A:G	W135R	1.000
1:114575606:A:T	W135R	1.000
1:114575632:A:G	L126P	1.000
1:114575638:A:G	L124P	1.000
1:114575640:A:C	N123K	1.000
1:114575640:A:T	N123K	1.000
1:114575657:C:G	A118P	1.000
1:114575659:T:G	Q117P	1.000
1:114575674:G:T	A112D	1.000
1:114575675:C:G	A112P	1.000
1:114575680:G:A	S110F	1.000
1:114575681:A:G	S110P	1.000
1:114575700:C:A	W103C	1.000
1:114575700:C:G	W103C	1.000
1:114575702:A:G	W103R	1.000
1:114575702:A:T	W103R	1.000
1:114575734:G:T	P92H	1.000
1:114575743:A:T	L89H	1.000

dbSNP variants (sampled 300 via entrez): RS1000381645 (1:114569327 A>T), RS1000434052 (1:114576167 C>A,T), RS1000716846 (1:114567552 T>A,C), RS1000880138 (1:114568627 A>C), RS1001029740 (1:114579906 GTTACT>G), RS1001059210 (1:114580263 A>G), RS1002016307 (1:114573414 T>C), RS1002016856 (1:114577198 T>C), RS1002017681 (1:114583151 T>C), RS1002047557 (1:114573643 C>G,T), RS1002253186 (1:114570645 C>T), RS1002452595 (1:114573612 G>A,T), RS1002545378 (1:114578154 C>T), RS1002681079 (1:114579827 C>A), RS1002778949 (1:114573435 G>A)

Disease associations

OMIM: gene MIM:605783 | 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
GCST002268_7	Autism	8.000000e-08
GCST002268_8	Autism	7.000000e-08
GCST002268_9	Autism	3.000000e-08
GCST007576_116	Chronotype	8.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008328	chronotype measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067001 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.72	Kd	1.891	nM	CHEMBL3752910
8.72	ED50	1.891	nM	CHEMBL3752910
6.02	Kd	953.9	nM	CHEMBL5653589
6.02	ED50	953.9	nM	CHEMBL5653589

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 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-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147941: Binding affinity to human BCAS2 incubated for 45 mins by Kinobead based pull down assay	kd	0.0019	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147941: Binding affinity to human BCAS2 incubated for 45 mins by Kinobead based pull down assay	kd	0.9539	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, affects cotreatment	2
Rotenone	decreases expression, increases expression	2
Valproic Acid	affects expression, increases expression	2
Cyclosporine	increases expression	2
dicrotophos	decreases expression	1
deoxynivalenol	increases expression	1
arsenite	affects binding, increases reaction	1
cobaltous chloride	decreases expression	1
manganese chloride	increases expression, affects cotreatment, increases abundance	1
diethyl malate	increases expression	1
benzyloxycarbonylleucyl-leucyl-leucine aldehyde	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
jinfukang	decreases expression	1
LDN 193189	affects cotreatment, increases expression	1
PCI 5002	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arbutin	increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Catechin	affects cotreatment, increases expression	1
Diethylstilbestrol	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Gold	decreases expression	1
Ivermectin	decreases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Methyl Methanesulfonate	increases 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
CHEMBL5650983	Binding	Binding affinity to human BCAS2 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.