CACNB1

Summary

CACNB1 (calcium voltage-gated channel auxiliary subunit beta 1, HGNC:1401) is a protein-coding gene on chromosome 17q12, encoding Voltage-dependent L-type calcium channel subunit beta-1 (Q02641). Regulatory subunit of L-type calcium channels.

The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified.

Source: NCBI Gene 782 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 89 total — 2 pathogenic
• Druggable target: yes — 3 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_000723

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1401
Approved symbol	CACNB1
Name	calcium voltage-gated channel auxiliary subunit beta 1
Location	17q12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000067191
Ensembl biotype	protein_coding
OMIM	114207
Entrez	782

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 10 protein_coding, 4 protein_coding_CDS_not_defined, 4 retained_intron

ENST00000344140, ENST00000394303, ENST00000394310, ENST00000492737, ENST00000536613, ENST00000539338, ENST00000577582, ENST00000577926, ENST00000582414, ENST00000582544, ENST00000582877, ENST00000910732, ENST00000910733, ENST00000910734, ENST00000920599, ENST00000963641, ENST00000963642, ENST00000963643

RefSeq mRNA: 3 — MANE Select: NM_000723 NM_000723, NM_199247, NM_199248

CCDS: CCDS11334, CCDS42311, CCDS45665

Canonical transcript exons

ENST00000394303 — 14 exons

Exon	Start	End
ENSE00002276694	39173453	39175657
ENSE00003469678	39185131	39185150
ENSE00003471711	39184784	39184864
ENSE00003572679	39177984	39178079
ENSE00003585711	39184031	39184140
ENSE00003602413	39183713	39183864
ENSE00003619258	39194884	39194970
ENSE00003621642	39177350	39177535
ENSE00003623926	39186496	39186572
ENSE00003632542	39184325	39184383
ENSE00003659313	39191474	39191593
ENSE00003661080	39187479	39187601
ENSE00003671280	39186793	39186929
ENSE00003846352	39197412	39197669

Expression profiles

Bgee: expression breadth ubiquitous, 224 present calls, max score 98.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.6977 / max 151.3608, expressed in 1477 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165585	3.0770	1287
165586	1.8104	728
165587	0.3165	135
165582	0.2397	24
165588	0.0757	35
165584	0.0701	44
208167	0.0561	23
165583	0.0521	15

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	98.78	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.51	gold quality
triceps brachii	UBERON:0001509	98.27	gold quality
muscle of leg	UBERON:0001383	97.99	gold quality
muscle organ	UBERON:0001630	97.75	gold quality
gluteal muscle	UBERON:0002000	97.62	gold quality
vastus lateralis	UBERON:0001379	97.39	gold quality
quadriceps femoris	UBERON:0001377	97.34	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.01	gold quality
skeletal muscle tissue	UBERON:0001134	96.99	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.76	gold quality
diaphragm	UBERON:0001103	96.66	gold quality
biceps brachii	UBERON:0001507	96.38	gold quality
Brodmann (1909) area 10	UBERON:0013541	95.82	gold quality
deltoid	UBERON:0001476	95.60	gold quality
tibialis anterior	UBERON:0001385	94.73	gold quality
prefrontal cortex	UBERON:0000451	94.09	gold quality
right frontal lobe	UBERON:0002810	93.78	gold quality
muscle tissue	UBERON:0002385	92.69	gold quality
cingulate cortex	UBERON:0003027	92.56	gold quality
anterior cingulate cortex	UBERON:0009835	92.56	gold quality
frontal cortex	UBERON:0001870	92.50	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.38	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.06	gold quality
neocortex	UBERON:0001950	92.02	gold quality
cortical plate	UBERON:0005343	91.82	gold quality
body of tongue	UBERON:0011876	91.40	gold quality
popliteal artery	UBERON:0002250	91.25	gold quality
tibial artery	UBERON:0007610	91.24	gold quality
nucleus accumbens	UBERON:0001882	90.38	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.19
E-GEOD-75367	no	180.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

92 targeting CACNB1, 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-4283	100.00	66.42	2097
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-132-3P	99.73	70.56	1424
HSA-MIR-212-3P	99.73	70.65	1424
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-149-3P	99.72	68.22	3963

Literature-anchored findings (GeneRIF, showing 4)

• Data show that the length-dependent mechanism of modulating inactivation kinetics of beta(2) calcium channel subunits can be confirmed and extended to the beta(1) calcium channel subunit. (PMID:19821165)
• CACNB1, encoding cardiac L-type calcium channel beta 1 subunit, is a potential target for microRNA-328 in transgenic mice. (PMID:21098446)
• These results provide new insights into the role of muscle-specific proteins on the structural arrangement of alpha1S intracellular loops and point to a new conformational effect of the beta1a subunit in supporting skeletal muscle excitation-contraction coupling. (PMID:27129199)
• Data show that mutant variant V156A results in instability of protein subdomains of beta1a subunit leading to a phenotype of Ca(2+) dysregulation that partly resembles that of other malignant hypertension-linked mutations of DHPR alpha1S subunit. (PMID:29212769)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	cacnb1	ENSDARG00000002167
mus_musculus	Cacnb1	ENSMUSG00000020882
rattus_norvegicus	Cacnb1	ENSRNOG00000004518
drosophila_melanogaster	Ca-beta	FBGN0287724
caenorhabditis_elegans	ccb-1	WBGENE00000368
caenorhabditis_elegans	ccb-2	WBGENE00021125

Paralogs (3): CACNB2 (ENSG00000165995), CACNB3 (ENSG00000167535), CACNB4 (ENSG00000182389)

Protein

Protein identifiers

Voltage-dependent L-type calcium channel subunit beta-1 — Q02641 (reviewed: Q02641)

Alternative names: Calcium channel voltage-dependent subunit beta 1

All UniProt accessions (1): Q02641

UniProt curated annotations — full annotation on UniProt →

Function. Regulatory subunit of L-type calcium channels. Regulates the activity of L-type calcium channels that contain CACNA1A as pore-forming subunit. Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit and increases the presence of the channel complex at the cell membrane. Required for functional expression L-type calcium channels that contain CACNA1D as pore-forming subunit. Regulates the activity of L-type calcium channels that contain CACNA1B as pore-forming subunit.

Subunit / interactions. Regulatory subunit of L-type calcium channels that consist of a pore-forming alpha subunit and auxiliary beta, gamma and delta subunits. Interacts with CACNA1A, CACNA1B, CACNA1C and CACNA1S. Component of a calcium channel complex consisting of a pore-forming alpha subunit (CACNA1S) and the ancillary subunits CACNB1 or CACNB2, CACNG1 and CACNA2D1. Identified in a complex with CACNA1C. Identified in a complex with the L-type calcium channel subunits CACNA1C, CACNA2D1, CACNB1 and one of the gamma subunits (CACNG4, CACNG6, CACNG7, or CACNG8). Part of a L-type calcium channel complex that contains CACNA1D, CACNA2D1 and CACNB1. Part of a L-type calcium channel complex that contains CACNA1B, CACNA2D1 and CACNB1. Interacts with JSRP1. Interacts with RYR1. Interacts with CBARP.

Subcellular location. Cell membrane. Sarcolemma.

Tissue specificity. Detected in heart ventricle (at protein level). Isoform 1 and isoform 3 are expressed in brain, heart, spleen, central nervous system and neuroblastoma cells. Isoform 2 is expressed in skeletal muscle.

Similarity. Belongs to the calcium channel beta subunit family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q02641-1	1, Beta-1b2, BetaA, Beta-1B, Beta1-2	yes
Q02641-2	2, Beta-1M, BetaC, Beta-1a
Q02641-3	3, Beta-1b1, BetaB, Beta-1c, Beta1-3

RefSeq proteins (3): NP_000714, NP_954855, NP_954856 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000584	VDCC_L_bsu	Family
IPR001452	SH3_domain	Domain
IPR005443	VDCC_L_b1su	Family
IPR008145	GK/Ca_channel_bsu	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR046937	CAB1-4_N_A-dom	Domain

Pfam: PF00625, PF12052

UniProt features (64 total): sequence conflict 25, helix 9, modified residue 7, strand 6, compositionally biased region 5, region of interest 4, splice variant 3, turn 2, chain 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
7VFS	ELECTRON MICROSCOPY	2.8
7VFU	ELECTRON MICROSCOPY	3
7VFV	ELECTRON MICROSCOPY	3
7YG5	ELECTRON MICROSCOPY	3
7XLQ	ELECTRON MICROSCOPY	3.1
7VFW	ELECTRON MICROSCOPY	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q02641-F1	69.79	0.44

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 (7): 44, 47, 73, 186, 193, 499, 547

Function

Pathways and Gene Ontology

Reactome pathways

15 pathways

ID	Pathway
R-HSA-112308	Presynaptic depolarization and calcium channel opening
R-HSA-419037	NCAM1 interactions
R-HSA-5576892	Phase 0 - rapid depolarisation
R-HSA-5576893	Phase 2 - plateau phase
R-HSA-9856532	Mechanical load activates signaling by PIEZO1 and integrins in osteocytes
R-HSA-112315	Transmission across Chemical Synapses
R-HSA-112316	Neuronal System
R-HSA-1266738	Developmental Biology
R-HSA-375165	NCAM signaling for neurite out-growth
R-HSA-397014	Muscle contraction
R-HSA-422475	Axon guidance
R-HSA-5576891	Cardiac conduction
R-HSA-8953897	Cellular responses to stimuli
R-HSA-9675108	Nervous system development
R-HSA-9855142	Cellular responses to mechanical stimuli

MSigDB gene sets: 212 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, MYOGENIN_Q6, MORF_MSH3, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, TGCACTT_MIR519C_MIR519B_MIR519A, LFA1_Q6, KEGG_MAPK_SIGNALING_PATHWAY, GCANCTGNY_MYOD_Q6, REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH, GGGTGGRR_PAX4_03, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, CAGCTG_AP4_Q5, MORF_RAD51L3, CEBPB_01

GO Biological Process (8): calcium ion transport (GO:0006816), chemical synaptic transmission (GO:0007268), positive regulation of muscle contraction (GO:0045933), calcium ion transmembrane transport (GO:0070588), regulation of calcium ion transmembrane transport via high voltage-gated calcium channel (GO:1902514), cellular response to amyloid-beta (GO:1904646), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220)

GO Molecular Function (5): voltage-gated calcium channel activity (GO:0005245), calcium channel regulator activity (GO:0005246), high voltage-gated calcium channel activity (GO:0008331), calcium channel activity (GO:0005262), protein binding (GO:0005515)

GO Cellular Component (8): plasma membrane (GO:0005886), voltage-gated calcium channel complex (GO:0005891), T-tubule (GO:0030315), synapse (GO:0045202), L-type voltage-gated calcium channel complex (GO:1990454), membrane (GO:0016020), monoatomic ion channel complex (GO:0034702), sarcolemma (GO:0042383)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Cardiac conduction	2
Transmission across Chemical Synapses	1
NCAM signaling for neurite out-growth	1
Cellular responses to mechanical stimuli	1
Neuronal System	1
Axon guidance	1
Nervous system development	1
Muscle contraction	1
Developmental Biology	1
Cellular responses to stimuli	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
calcium channel activity	2
cellular anatomical structure	2
metal ion transport	1
anterograde trans-synaptic signaling	1
muscle contraction	1
regulation of muscle contraction	1
positive regulation of multicellular organismal process	1
calcium ion transport	1
monoatomic cation transmembrane transport	1
calcium ion transmembrane transport via high voltage-gated calcium channel	1
regulation of calcium ion transmembrane transport	1
cellular response to nitrogen compound	1
cellular response to oxygen-containing compound	1
response to amyloid-beta	1
transport	1
monoatomic ion transport	1
transmembrane transport	1
voltage-gated monoatomic cation channel activity	1
ion channel regulator activity	1
voltage-gated calcium channel activity	1
monoatomic cation channel activity	1
calcium ion transmembrane transporter activity	1
binding	1
membrane	1
cell periphery	1
calcium channel complex	1
plasma membrane protein complex	1
sarcolemma	1
cell junction	1
voltage-gated calcium channel complex	1
T-tubule	1
transmembrane transporter complex	1
plasma membrane	1

Protein interactions and networks

STRING

1082 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CACNB1	CACNA2D1	P54289	978
CACNB1	CACNG1	Q06432	971
CACNB1	CACNA1D	Q01668	924
CACNB1	CACNA1C	Q13936	865
CACNB1	CACNA1S	Q13698	858
CACNB1	CACNG4	Q9UBN1	851
CACNB1	CACNA2D2	Q9NY47	817
CACNB1	CACNG5	Q9UF02	809
CACNB1	CACNG3	O60359	808
CACNB1	CACNA2D4	Q7Z3S7	795
CACNB1	CACNG8	Q8WXS5	791
CACNB1	CACNA2D3	Q8IZS8	778
CACNB1	CACNA1A	P78510	765
CACNB1	CACNG7	P62955	751
CACNB1	CACNG2	Q9Y698	677

IntAct

25 interactions, top by confidence:

A	B	Type	Score
CACNB1	CACNB3	psi-mi:“MI:0914”(association)	0.640
KLHL15	CACNB1	psi-mi:“MI:0914”(association)	0.640
GEM	CACNB1	psi-mi:“MI:0915”(physical association)	0.590
CACNB1	GEM	psi-mi:“MI:0915”(physical association)	0.590
CTBP2	CACNB1	psi-mi:“MI:0915”(physical association)	0.560
EYA1	PTPN9	psi-mi:“MI:0914”(association)	0.530
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
CACNA1C	SYT5	psi-mi:“MI:0914”(association)	0.350
CACNA1C	IGLL5	psi-mi:“MI:0914”(association)	0.350
CACNA1C	CACNB4	psi-mi:“MI:0914”(association)	0.350
CACNA1C	DISP2	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
KLHL15	PPIA	psi-mi:“MI:0914”(association)	0.350
CACNB1	KIF2A	psi-mi:“MI:0914”(association)	0.350
GAN	CACNB1	psi-mi:“MI:0914”(association)	0.350
KLHL15	DNAJB5	psi-mi:“MI:0914”(association)	0.350
PCYT1A	GNL1	psi-mi:“MI:0914”(association)	0.350
ATN1	CACNB1	psi-mi:“MI:0915”(physical association)	0.000
CACNB1	ATN1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (21): CACNB2 (Affinity Capture-MS), CACNB3 (Affinity Capture-MS), C19orf26 (Affinity Capture-MS), CACNB1 (Affinity Capture-MS), WDR75 (Affinity Capture-MS), CTBP2 (Two-hybrid), CACNB1 (Affinity Capture-MS), CACNB1 (Affinity Capture-MS), C19orf26 (Affinity Capture-MS), CACNB2 (Affinity Capture-MS), CACNB3 (Affinity Capture-MS), CACNB1 (Affinity Capture-MS), WDR75 (Affinity Capture-MS), CCZ1 (Affinity Capture-MS), CACNB1 (Reconstituted Complex)

ESM2 similar proteins: A6QL72, A7E300, B1WAV2, B9VTT2, E9Q5G3, F1MF74, O00763, O42611, O43815, O55106, O60447, O94776, O94851, P10687, P10894, P48380, P48381, P51400, P54283, P70483, P97366, Q02641, Q0V9K5, Q32NR3, Q4R3I8, Q5EAP5, Q5JSJ4, Q62769, Q63744, Q6DCD0, Q6GL57, Q6PCM2, Q7SYD9, Q811S7, Q8BPM2, Q8CC27, Q8R3Z5, Q8VGC3, Q90828, Q90ZY6

Diamond homologs: D4A055, O00305, P19517, P54283, P54284, P54285, P54286, P54287, P54288, Q02641, Q08289, Q8CC27, Q8R0S4, Q8R3Z5, Q8VGC3, Q9MZL3, Q9MZL5, Q9MZL7

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
ERK1/2	“up-regulates activity”	CACNB1	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	68
Likely benign	6
Benign	2

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
4073416	NM_000723.5(CACNB1):c.124_133del (p.Asp42fs)	Pathogenic
4073709	NM_000723.5(CACNB1):c.85-1G>A	Pathogenic

SpliceAI

2466 predictions. Top by Δscore:

Variant	Effect	Δscore
17:39175684:C:CT	acceptor_gain	1.0000
17:39175685:A:AC	acceptor_gain	1.0000
17:39175693:C:CT	acceptor_gain	1.0000
17:39175697:C:CT	acceptor_gain	1.0000
17:39175698:A:T	acceptor_gain	1.0000
17:39175702:G:C	acceptor_gain	1.0000
17:39175702:G:GC	acceptor_gain	1.0000
17:39177344:CTGTA:C	donor_loss	1.0000
17:39177345:TGTA:T	donor_loss	1.0000
17:39177347:TA:T	donor_loss	1.0000
17:39177532:TTTC:T	acceptor_gain	1.0000
17:39177533:TTC:T	acceptor_gain	1.0000
17:39177533:TTCCT:T	acceptor_loss	1.0000
17:39177536:C:CC	acceptor_gain	1.0000
17:39177982:A:AC	donor_gain	1.0000
17:39177983:C:CC	donor_gain	1.0000
17:39177983:CAG:C	donor_gain	1.0000
17:39182913:AAAC:A	donor_gain	1.0000
17:39183708:CCCA:C	donor_loss	1.0000
17:39183709:CCA:C	donor_loss	1.0000
17:39183710:CA:C	donor_loss	1.0000
17:39183711:A:AT	donor_loss	1.0000
17:39183712:C:CA	donor_loss	1.0000
17:39183860:CTCAG:C	acceptor_gain	1.0000
17:39183862:CAG:C	acceptor_gain	1.0000
17:39183863:AG:A	acceptor_gain	1.0000
17:39183865:C:CC	acceptor_gain	1.0000
17:39183872:C:CT	acceptor_gain	1.0000
17:39183873:A:AC	acceptor_gain	1.0000
17:39183873:A:C	acceptor_gain	1.0000

AlphaMissense

3873 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:39177445:G:C	H413D	1.000
17:39177480:A:G	L401P	1.000
17:39177488:G:C	C398W	1.000
17:39177489:C:T	C398Y	1.000
17:39177492:G:T	A397D	1.000
17:39177501:A:G	L394S	1.000
17:39177506:G:C	N392K	1.000
17:39177506:G:T	N392K	1.000
17:39177516:A:C	L389R	1.000
17:39177516:A:G	L389P	1.000
17:39177516:A:T	L389Q	1.000
17:39177525:T:A	D386V	1.000
17:39177527:A:C	F385L	1.000
17:39177527:A:T	F385L	1.000
17:39177529:A:G	F385L	1.000
17:39178000:A:G	L377P	1.000
17:39178012:G:T	A373D	1.000
17:39178020:T:A	Q370H	1.000
17:39178020:T:G	Q370H	1.000
17:39178054:C:G	R359P	1.000
17:39178058:A:G	S358P	1.000
17:39178059:C:A	K357N	1.000
17:39178059:C:G	K357N	1.000
17:39178061:T:C	K357E	1.000
17:39178066:A:G	L355P	1.000
17:39178066:A:T	L355H	1.000
17:39178068:C:A	R354S	1.000
17:39178068:C:G	R354S	1.000
17:39178069:C:A	R354M	1.000
17:39178069:C:G	R354T	1.000

dbSNP variants (sampled 300 via entrez): RS1000112331 (17:39198512 C>T), RS1000150433 (17:39187935 C>T), RS1000198737 (17:39176956 T>C,G), RS1000237945 (17:39187389 C>G,T), RS1000349304 (17:39181003 C>A), RS1000614208 (17:39193960 C>T), RS1000651654 (17:39198207 C>G), RS1000805453 (17:39180669 A>AT), RS1000867162 (17:39181472 A>G), RS1000883654 (17:39177160 A>G), RS1001075094 (17:39192857 G>A), RS1001127863 (17:39188420 C>T), RS1001207630 (17:39188981 T>C), RS1001242348 (17:39188744 AAATAAT>A,AAAT), RS1001411770 (17:39175821 C>T)

Disease associations

OMIM: gene MIM:114207 | disease phenotypes: MIM:615249

GenCC curated gene-disease

Mondo (1): muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 (MONDO:0014101)

Orphanet (1): Walker-Warburg syndrome (Orphanet:899)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST008876_27	Non-lobar intracerebral hemorrhage (MTAG)	3.000000e-06
GCST008916_86	Asthma	2.000000e-14

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010178	non-lobar intracerebral hemorrhage

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (4): CHEMBL2363032 (PROTEIN COMPLEX GROUP), CHEMBL3988638 (PROTEIN COMPLEX), CHEMBL3988640 (PROTEIN COMPLEX), CHEMBL4106160 (PROTEIN COMPLEX)

Molecules with ChEMBL bioactivity

3 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 68,018 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1428	NIMODIPINE	4	32,587
CHEMBL95	TACRINE	4	35,360
CHEMBL604710	Z160	2	71

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

ChEMBL bioactivities

141 potent at pChembl≥5 of 166 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.82	IC50	1.5	nM	CHEMBL3891844
8.72	IC50	1.9	nM	CHEMBL3890624
8.62	IC50	2.4	nM	CHEMBL3973392
8.57	IC50	2.7	nM	CHEMBL3891844
8.52	IC50	3	nM	CHEMBL3919024
8.51	IC50	3.1	nM	CHEMBL3919898
8.35	IC50	4.5	nM	CHEMBL3965812
8.23	IC50	5.9	nM	CHEMBL3906126
8.22	IC50	6	nM	CHEMBL3890916
8.15	IC50	7	nM	CHEMBL3940577
8.14	IC50	7.2	nM	CHEMBL3969562
8.12	IC50	7.6	nM	CHEMBL3937280
8.12	IC50	7.6	nM	CHEMBL3965812
8.10	IC50	8	nM	CHEMBL3983323
8.05	IC50	9	nM	CHEMBL3942512
8.03	IC50	9.4	nM	CHEMBL3922498
8.01	IC50	9.7	nM	CHEMBL3897303
7.96	IC50	11	nM	CHEMBL3948329
7.92	IC50	12	nM	CHEMBL3898359
7.85	IC50	14	nM	CHEMBL3911369
7.85	IC50	14	nM	CHEMBL3913505
7.85	IC50	14	nM	CHEMBL3936725
7.82	IC50	15	nM	CHEMBL3984596
7.82	IC50	15	nM	CHEMBL3902376
7.67	IC50	21.5	nM	CHEMBL3952905
7.62	IC50	24	nM	CHEMBL3972896
7.58	IC50	26	nM	CHEMBL3889804
7.55	IC50	28	nM	CHEMBL3958844
7.55	IC50	28	nM	CHEMBL3973382
7.52	IC50	30	nM	CHEMBL3978200
7.52	IC50	30	nM	CHEMBL3985660
7.51	IC50	31	nM	CHEMBL3896861
7.51	IC50	31	nM	CHEMBL3951956
7.50	IC50	31.4	nM	CHEMBL3962403
7.44	IC50	36	nM	CHEMBL3953976
7.44	IC50	36	nM	CHEMBL3925140
7.41	IC50	39	nM	CHEMBL3900691
7.40	IC50	40	nM	CHEMBL597782
7.40	IC50	40	nM	CHEMBL599404
7.39	IC50	41	nM	CHEMBL3930781
7.30	IC50	50	nM	CHEMBL3921840
7.30	IC50	50	nM	CHEMBL605965
7.30	IC50	50	nM	CHEMBL599402
7.22	IC50	60	nM	CHEMBL599829
7.21	IC50	62	nM	CHEMBL3956991
7.17	IC50	67	nM	CHEMBL3965293
7.16	IC50	70	nM	CHEMBL597585
7.09	IC50	81	nM	CHEMBL3958264
7.07	IC50	85	nM	CHEMBL3964411
7.05	IC50	90	nM	CHEMBL598592

PubChem BioAssay actives

90 with measured affinity, of 209 total; 50 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
1-[4-[(3-chlorophenyl)-phenylmethyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.0400	uM
1-[4-[(4-chlorophenyl)-(1-methylpiperidin-4-yl)methyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.0400	uM
2-[4-[(2-chlorophenyl)-phenylmethyl]piperazin-1-yl]-N,N-diphenylacetamide	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.0500	uM
1-[4-[(R)-(4-chlorophenyl)-phenylmethyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.0500	uM
3,3-diphenyl-1-[4-[phenyl(piperidin-4-yl)methyl]piperazin-1-yl]propan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.0600	uM
3,3-diphenyl-1-[4-[phenyl-[4-(trifluoromethyl)phenyl]methyl]piperazin-1-yl]propan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.0700	uM
1-[4-[(2-chlorophenyl)-phenylmethyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.0900	uM
1-[4-[(4-fluorophenyl)-(1-methylpiperidin-4-yl)methyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.1000	uM
1-[4-[(4-chlorophenyl)-phenylmethyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.1100	uM
2-[4-[(4-chlorophenyl)-phenylmethyl]piperazin-1-yl]-N,N-diphenylacetamide	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.1100	uM
1-(4-benzhydrylpiperazin-1-yl)-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.1100	uM
3,3-diphenyl-1-[4-[phenyl-[3-(trifluoromethyl)phenyl]methyl]piperazin-1-yl]propan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.1100	uM
1-[4-[(2,3-dichlorophenyl)-phenylmethyl]piperazin-1-yl]-2-(N-phenylanilino)ethanone	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.1400	uM
1-[4-[(S)-(4-chlorophenyl)-phenylmethyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.1400	uM
N,4-dibenzhydrylpiperazine-1-carboxamide	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.1500	uM
1-[4-[(3,5-dichlorophenyl)-phenylmethyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.1700	uM
N-benzhydryl-4-[(2-chlorophenyl)-phenylmethyl]piperazine-1-carboxamide	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.1800	uM
N-benzhydryl-4-[(2,3-dichlorophenyl)-phenylmethyl]piperazine-1-carboxamide	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.2000	uM
1-[4-[(2,6-dichlorophenyl)-phenylmethyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.2100	uM
1-[4-[(3,5-dimethoxyphenyl)-phenylmethyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.2100	uM
1-[4-[(2,3-dichlorophenyl)-phenylmethyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.2200	uM
1-[4-[(2,4-dimethylphenyl)-phenylmethyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.2300	uM
1-[4-[bis(4-methoxyphenyl)methyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.2400	uM
2-[4-[(2,3-dichlorophenyl)-phenylmethyl]piperazin-1-yl]-N,N-diphenylacetamide	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.2400	uM
1-[4-[(4-methoxyphenyl)-phenylmethyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.2500	uM
1-[4-[(2,4-dimethylphenyl)-phenylmethyl]piperazin-1-yl]-2-(N-phenylanilino)ethanone	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.2600	uM
2-(4-benzhydrylpiperazin-1-yl)-N,N-diphenylacetamide	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.2600	uM
1-[4-[(1-methylpiperidin-3-yl)-phenylmethyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.2700	uM
N-benzhydryl-4-[(4-chlorophenyl)-phenylmethyl]piperazine-1-carboxamide	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.2800	uM
1-[4-[(3-chlorophenyl)-phenylmethyl]piperazin-1-yl]-2-(N-phenylanilino)ethanone	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.2800	uM
3,3-diphenyl-1-[4-[phenyl-[2-(trifluoromethyl)phenyl]methyl]piperazin-1-yl]propan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.3000	uM
1-[4-[(4-methylphenyl)-phenylmethyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.3100	uM
2-[4-[(3-chlorophenyl)-phenylmethyl]piperazin-1-yl]-N,N-diphenylacetamide	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.3200	uM
1-[4-[(2-chlorophenyl)-phenylmethyl]piperazin-1-yl]-2-(N-phenylanilino)ethanone	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.3200	uM
N-benzhydryl-4-[(3-chlorophenyl)-phenylmethyl]piperazine-1-carboxamide	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.3400	uM
1-[4-[(4-fluorophenyl)-phenylmethyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.3800	uM
1-[4-[(2,4-dichlorophenyl)-phenylmethyl]piperazin-1-yl]-2-(N-phenylanilino)ethanone	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.4600	uM
1-[4-[(4-chlorophenyl)-phenylmethyl]piperazin-1-yl]-2-(N-phenylanilino)ethanone	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.5000	uM
3,3-diphenyl-1-[4-[phenyl-(3,4,5-trimethoxyphenyl)methyl]piperazin-1-yl]propan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.5100	uM
2-[4-[(2,4-dichlorophenyl)-phenylmethyl]piperazin-1-yl]-N,N-diphenylacetamide	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.5100	uM
1-[4-[(1-methylpiperidin-4-yl)-phenylmethyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	0.6900	uM
N-tert-butyl-8-[[[(1S,2S)-2-(3-methyl-1,2,4-oxadiazol-5-yl)cyclopropanecarbonyl]amino]methyl]-5-[3-(trifluoromethoxy)phenyl]-3,4-dihydro-1H-isoquinoline-2-carboxamide	1262825: Inhibition of voltage-gated calcium channel (unknown origin)	ic50	0.8000	uM
N-benzhydryl-4-[(2,4-dichlorophenyl)-phenylmethyl]piperazine-1-carboxamide	459233: Inhibition of L type calcium channel alpha-1c/alpha-2-delta-1/beta-1b expressed in HEK293 cells in presence of -100 mV holding potential by whole-cell patch clamp method	ic50	1.0300	uM
2-[4-[(2,4-dimethylphenyl)-phenylmethyl]piperazin-1-yl]-N,N-diphenylacetamide	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	1.2500	uM
5-methyl-1-[(2-nitrophenyl)methyl]-3-(piperidin-1-ylmethyl)indole	1392176: Inhibition of KCl-induced cytosolic voltage gated calcium channel opening in human SH-SY5Y cells by Fluo-4 AM dye based fluorescence assay	ic50	1.8000	uM
1-[(3-chlorophenyl)methyl]-5-methyl-3-(piperidin-1-ylmethyl)indole	1392176: Inhibition of KCl-induced cytosolic voltage gated calcium channel opening in human SH-SY5Y cells by Fluo-4 AM dye based fluorescence assay	ic50	2.2000	uM
1-[4-[(1-methylpiperidin-4-yl)methyl]piperazin-1-yl]-3,3-diphenylpropan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	2.4000	uM
3,3-diphenyl-1-[4-(piperidin-4-ylmethyl)piperazin-1-yl]propan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	2.5000	uM
3,3-diphenyl-1-[4-(piperidin-2-ylmethyl)piperazin-1-yl]propan-1-one	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	2.7000	uM
N-benzhydryl-4-[(2,4-dimethylphenyl)-phenylmethyl]piperazine-1-carboxamide	459232: Inhibition of N type calcium channel alpha-1b/alpha-2-delta-1/beta-1b expressed in HEK293 cells at holding potential of -100 mV by whole-cell patch clamp method	ic50	2.7100	uM

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Arsenic	affects cotreatment, increases abundance, increases expression	2
Tretinoin	decreases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
bisphenol A	increases expression	1
sulforaphane	decreases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
incobotulinumtoxinA	decreases expression	1
Sunitinib	increases expression	1
Benzo(a)pyrene	increases methylation	1
Chelating Agents	affects binding, increases expression	1
Copper	increases expression, affects binding	1
Doxorubicin	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Menthol	decreases expression	1
Phthalic Acids	increases methylation	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	increases expression	1
Vanadium	decreases expression	1
Aflatoxin B1	decreases methylation	1
Sodium Selenite	increases expression	1
Coal Ash	decreases expression	1

ChEMBL screening assays

19 unique, capped per target: 19 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3737861	Binding	Inhibition of voltage-gated calcium channel (unknown origin)	Discovery and Pharmacology of a Novel Class of Diacylglycerol Acyltransferase 2 Inhibitors. — J Med Chem

Cellosaurus cell lines

4 cell lines: 2 cancer cell line, 2 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D7LC	Ubigene A-549 CACNB1 KO	Cancer cell line	Male
CVCL_D9AM	Ubigene HEK293 CACNB1 KO	Transformed cell line	Female
CVCL_SG49	HAP1 CACNB1 (-)	Cancer cell line	Male
CVCL_YA25	IDG-HEK293T-CACNB1-V5-OE	Transformed cell line	Female

Clinical trials (associated diseases)

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