CSMD2

Summary

CSMD2 (CUB and Sushi multiple domains 2, HGNC:19290) is a protein-coding gene on chromosome 1p35.1, encoding CUB and sushi domain-containing protein 2 (Q7Z408).

The protein encoded by this gene is thought to be involved in the control of complement cascade of the immune system. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal cancer.

Source: NCBI Gene 114784 — RefSeq curated summary.

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 561 total
• Phenotypes (HPO): 1
• MANE Select transcript: NM_001281956

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19290
Approved symbol	CSMD2
Name	CUB and Sushi multiple domains 2
Location	1p35.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1884
Ensembl gene	ENSG00000121904
Ensembl biotype	protein_coding
OMIM	608398
Entrez	114784

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 4 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000338325, ENST00000373377, ENST00000373380, ENST00000373381, ENST00000373388, ENST00000465819, ENST00000471438, ENST00000489419, ENST00000619121

RefSeq mRNA: 2 — MANE Select: NM_001281956 NM_001281956, NM_052896

CCDS: CCDS380, CCDS60082

Canonical transcript exons

ENST00000373381 — 71 exons

Exon	Start	End
ENSE00000826597	33580753	33580899
ENSE00000826598	33583642	33583830
ENSE00000826600	33602369	33602546
ENSE00000826601	33605282	33605470
ENSE00000826602	33611041	33611250
ENSE00000826603	33614504	33614620
ENSE00001049669	33542720	33542896
ENSE00001066092	33537022	33537095
ENSE00001066099	33533796	33533907
ENSE00001066111	33716286	33716501
ENSE00001145114	33622167	33622271
ENSE00001145143	33600865	33601010
ENSE00001145179	33550177	33550350
ENSE00001207259	33935760	33935954
ENSE00001207268	33918094	33918301
ENSE00001207473	33519465	33519677
ENSE00001207491	33527196	33527258
ENSE00001218243	33617499	33617617
ENSE00001226924	33524882	33525043
ENSE00001330892	33572506	33572691
ENSE00001339084	33577296	33577484
ENSE00001339093	33586504	33586617
ENSE00001339097	33587088	33587168
ENSE00001339107	33616906	33616975
ENSE00001360800	33519812	33519950
ENSE00001360803	33521463	33521550
ENSE00001360805	33523307	33523419
ENSE00001360813	33533050	33533229
ENSE00001360825	33537436	33537609
ENSE00001360832	33540525	33540698
ENSE00001360838	33541130	33541309
ENSE00001360848	33546037	33546219
ENSE00001360998	33709089	33709258
ENSE00001361004	33714587	33714775
ENSE00001361180	33724516	33724704
ENSE00001361183	33725349	33725536
ENSE00001361188	33726547	33726685
ENSE00001361196	33739140	33739334
ENSE00001361200	33743280	33743606
ENSE00001361202	33772569	33772751
ENSE00001361206	33788600	33788712
ENSE00001361211	33792423	33792526
ENSE00001361222	33819713	33819837
ENSE00001361225	33820469	33820556
ENSE00001361229	33825697	33825774
ENSE00001361235	33846884	33846996
ENSE00001399888	33724197	33724313
ENSE00001413718	34032594	34032706
ENSE00001427918	34088977	34089193
ENSE00001460418	33557734	33557922
ENSE00001460419	33559300	33559473
ENSE00001460420	33567593	33567841
ENSE00002302677	34164911	34165230
ENSE00003476937	33569374	33569547
ENSE00003485212	33571532	33571726
ENSE00003486992	33623370	33623466
ENSE00003535878	33810743	33810864
ENSE00003603108	33624519	33624643
ENSE00003633593	33625051	33625254
ENSE00003711868	33652323	33652461
ENSE00003720125	33646648	33646835
ENSE00003721180	33692930	33693056
ENSE00003723210	33633422	33633535
ENSE00003730491	33698753	33698944
ENSE00003736519	33657946	33658137
ENSE00003737724	33626486	33626581
ENSE00003743051	33662890	33663092
ENSE00003745662	33636360	33636554
ENSE00003748500	33700517	33700673
ENSE00003752158	33635214	33635330
ENSE00003920570	33513998	33516570

Expression profiles

Bgee: expression breadth ubiquitous, 166 present calls, max score 88.55.

FANTOM5 (CAGE): breadth broad, TPM avg 5.8218 / max 336.2663, expressed in 730 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11634	4.6043	668
11632	0.4871	252
11631	0.3382	191
11633	0.3174	156
11635	0.0747	30

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	88.55	gold quality
ventricular zone	UBERON:0003053	83.36	gold quality
kidney epithelium	UBERON:0004819	83.09	silver quality
cortical plate	UBERON:0005343	81.48	gold quality
primary visual cortex	UBERON:0002436	77.92	gold quality
ganglionic eminence	UBERON:0004023	77.26	gold quality
Brodmann (1909) area 23	UBERON:0013554	76.73	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.65	gold quality
epithelial cell of pancreas	CL:0000083	75.75	gold quality
occipital lobe	UBERON:0002021	74.94	gold quality
middle temporal gyrus	UBERON:0002771	73.48	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	73.43	gold quality
corpus callosum	UBERON:0002336	73.27	gold quality
sural nerve	UBERON:0015488	72.28	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	72.22	gold quality
nasal cavity epithelium	UBERON:0005384	71.59	gold quality
vena cava	UBERON:0004087	71.44	silver quality
prefrontal cortex	UBERON:0000451	70.65	gold quality
Brodmann (1909) area 46	UBERON:0006483	70.45	silver quality
neocortex	UBERON:0001950	70.03	gold quality
stromal cell of endometrium	CL:0002255	69.88	gold quality
frontal cortex	UBERON:0001870	69.67	gold quality
frontal lobe	UBERON:0016525	69.67	gold quality
right frontal lobe	UBERON:0002810	69.30	gold quality
lateral nuclear group of thalamus	UBERON:0002736	69.19	gold quality
cerebral cortex	UBERON:0000956	69.17	gold quality
nucleus accumbens	UBERON:0001882	68.99	gold quality
hypothalamus	UBERON:0001898	68.83	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	68.81	gold quality
subthalamic nucleus	UBERON:0001906	67.83	silver quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.32
E-GEOD-93593	yes	4.52
E-GEOD-99795	no	2.09

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

122 targeting CSMD2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-568	99.98	69.86	2084
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-570-3P	99.96	72.41	4910
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4447	99.85	67.81	2900

Literature-anchored findings (GeneRIF, showing 3)

• CSMD2 protein domain structure and the sequence of the cytoplasmic tail are highly conserved between mammals and fish. (PMID:12906867)
• data demonstrate a significant role of complement control-related genes in the etiology of schizophrenia. (PMID:21439553)
• CSMD1 and CSMD2 expressions were associated with overall survival (PMID:24408017)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Csmd2	ENSMUSG00000028804
rattus_norvegicus	Csmd2	ENSRNOG00000007057

Paralogs (39): CFH (ENSG00000000971), SELE (ENSG00000007908), C8B (ENSG00000021852), C6 (ENSG00000039537), SEZ6 (ENSG00000063015), CFHR2 (ENSG00000080910), APOH (ENSG00000091583), SEZ6L (ENSG00000100095), SUSD6 (ENSG00000100647), SRPX (ENSG00000101955), SRPX2 (ENSG00000102359), C7 (ENSG00000112936), C9 (ENSG00000113600), PAPPA2 (ENSG00000116183), CFHR3 (ENSG00000116785), CR2 (ENSG00000117322), CD46 (ENSG00000117335), C4BPA (ENSG00000123838), C4BPB (ENSG00000123843), CFHR4 (ENSG00000134365), CFHR5 (ENSG00000134389), F13B (ENSG00000143278), SUSD4 (ENSG00000143502), C8A (ENSG00000157131), SUSD3 (ENSG00000157303), CSMD3 (ENSG00000164796), SVEP1 (ENSG00000165124), C2 (ENSG00000166278), SELP (ENSG00000174175), SEZ6L2 (ENSG00000174938), PRF1 (ENSG00000180644), PAPPA (ENSG00000182752), CSMD1 (ENSG00000183117), SELL (ENSG00000188404), CD55 (ENSG00000196352), CR1L (ENSG00000197721), CR1 (ENSG00000203710), CFB (ENSG00000243649), CFHR1 (ENSG00000244414)

Protein

Protein identifiers

CUB and sushi domain-containing protein 2 — Q7Z408 (reviewed: Q7Z408)

Alternative names: CUB and sushi multiple domains protein 2

All UniProt accessions (3): A0A087X0K4, A0A8I5KWH5, Q7Z408

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cell membrane.

Tissue specificity. Weakly expressed in most tissues, except in brain. Expressed at intermediate level in brain, including cerebellum, substantia nigra, hippocampus and fetal brain. Overexpressed in some head and neck cancer cell lines.

Similarity. Belongs to the CSMD family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q7Z408-1	1	yes
Q7Z408-2	2
Q7Z408-3	3
Q7Z408-4	4

RefSeq proteins (2): NP_001268885, NP_443128 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000436	Sushi_SCR_CCP_dom	Domain
IPR000859	CUB_dom	Domain
IPR035914	Sperma_CUB_dom_sf	Homologous_superfamily
IPR035976	Sushi/SCR/CCP_sf	Homologous_superfamily
IPR051277	SEZ6_CSMD_C4BPB_Regulators	Family

Pfam: PF00084, PF00431

UniProt features (170 total): disulfide bond 66, domain 40, glycosylation site 35, splice variant 12, sequence variant 8, sequence conflict 5, topological domain 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

No AlphaFold model available for Q7Z408 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

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

Disulfide bonds (66): 1271–1298, 1385–1425, 1411–1441, 1445–1471, 1558–1598, 1584–1615, 1619–1645, 1735–1775, 1761–1792, 1796–1822, 1909–1949, 1935–1964, 1968–1994, 2123–2163, 2149–2178, 2182–2208, 2294–2336, 2322–2351, 2355–2383, 2468–2509 …

Glycosylation sites (35): 25, 34, 51, 581, 680, 949, 983, 1009, 1028, 1158, 1178, 1194, 1393, 1566, 1638, 1786, 1799, 1876, 2012, 2185 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 98 (showing top): AAGCAAT_MIR137, BENPORATH_ES_WITH_H3K27ME3, GOBP_SYNAPSE_ASSEMBLY, TATTATA_MIR374, GOBP_CELLULAR_COMPONENT_MAINTENANCE, GOBP_CELL_JUNCTION_ORGANIZATION, MODULE_301, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELL_JUNCTION_ASSEMBLY, GOCC_POSTSYNAPSE, GOCC_SYNAPSE, GOCC_POSTSYNAPTIC_MEMBRANE, chr1p35, GOCC_PLASMA_MEMBRANE_REGION, GOCC_SYNAPTIC_MEMBRANE

GO Biological Process (2): postsynaptic density assembly (GO:0097107), maintenance of postsynaptic density structure (GO:0099562)

GO Molecular Function (0):

GO Cellular Component (4): postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
postsynaptic density organization	1
postsynaptic specialization assembly	1
excitatory synapse assembly	1
maintenance of postsynaptic specialization structure	1
postsynaptic density	1
postsynaptic membrane	1
postsynaptic specialization membrane	1
synapse	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

884 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CSMD2	CNTNAP5	Q8WYK1	418
CSMD2	NRDE2	Q9H7Z3	400
CSMD2	FAU	P35544	398
CSMD2	SUSD2	Q9UGT4	394
CSMD2	PDE1A	P54750	387
CSMD2	ERAP2	Q6P179	387
CSMD2	TMEM204	Q9BSN7	370
CSMD2	BPIFB4	P59827	369
CSMD2	FDFT1	P37268	366
CSMD2	SCN9A	Q15858	364
CSMD2	ASTN2	O75129	355
CSMD2	WFS1	O76024	353
CSMD2	BPIFA2	Q96DR5	353
CSMD2	MYOM2	P54296	353
CSMD2	CAMK4	Q16566	353
CSMD2	SCN1A	P35498	353
CSMD2	KLRD1	Q13241	353
CSMD2	LY86	O95711	353

IntAct

10 interactions, top by confidence:

A	B	Type	Score
Dlg4	CSMD2	psi-mi:“MI:0407”(direct interaction)	0.440
ABL1	CSMD2	psi-mi:“MI:0915”(physical association)	0.400
CRK	CSMD2	psi-mi:“MI:0915”(physical association)	0.400
CSMD2	FYN	psi-mi:“MI:0915”(physical association)	0.400
NCK1	CSMD2	psi-mi:“MI:0915”(physical association)	0.400
PLCG1	CSMD2	psi-mi:“MI:0915”(physical association)	0.400
CSMD2	MDH1	psi-mi:“MI:0915”(physical association)	0.400
MYC		psi-mi:“MI:0914”(association)	0.350
DISC1	CSMD2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (5): CSMD2 (Affinity Capture-MS), CSMD2 (Proximity Label-MS), CSMD2 (Proximity Label-MS), CSMD2 (Affinity Capture-RNA), CSMD2 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1D5NSM8, A2AVA0, B8JI71, D3ZHH1, F1RWC3, O57409, O60494, O70244, O75445, P0C6B8, P25723, P35442, P56677, P82279, P86091, P97435, P98072, P98073, P98074, P98160, Q05793, Q0IIH7, Q16787, Q20176, Q2QI47, Q4LDE5, Q5ZQU0, Q61789, Q66TN7, Q70E20, Q7RTY8, Q7RTZ1, Q7Z407, Q7Z408, Q80T79, Q8BIK6, Q8K3K1, Q8K480, Q8UWJ4, Q8VHS2

Diamond homologs: A0A182C2Z2, A0JNA2, B3EX01, E7FEC4, O08569, O19124, O57254, O62685, O62837, O88174, P08174, P0DTN2, P15529, P21115, P24083, P24084, P36980, P49457, P79138, P81475, Q01227, Q07968, Q28085, Q29RN8, Q4V9Z5, Q53EL9, Q5R4D0, Q5R8M2, Q5VX71, Q60736, Q63515, Q6AX42, Q6P1D5, Q6UXD5, Q7TSK2, Q7Z408, Q8BH32, Q9BYH1, Q9JF44, Q9W332

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	488
Likely benign	31
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

13943 predictions. Top by Δscore:

Variant	Effect	Δscore
1:33519707:A:C	acceptor_gain	1.0000
1:33519799:T:TA	donor_gain	1.0000
1:33519806:CGGTA:C	donor_loss	1.0000
1:33519807:GGTAC:G	donor_loss	1.0000
1:33519808:GTAC:G	donor_loss	1.0000
1:33519809:TA:T	donor_loss	1.0000
1:33519810:A:AG	donor_loss	1.0000
1:33519811:C:CT	donor_loss	1.0000
1:33519949:GT:G	acceptor_gain	1.0000
1:33519951:C:CC	acceptor_gain	1.0000
1:33525044:C:CC	acceptor_gain	1.0000
1:33527194:A:AC	donor_gain	1.0000
1:33527195:C:CC	donor_gain	1.0000
1:33533045:CTCA:C	donor_loss	1.0000
1:33533046:TCACC:T	donor_loss	1.0000
1:33533047:CACC:C	donor_loss	1.0000
1:33533048:A:AT	donor_loss	1.0000
1:33533048:AC:A	donor_gain	1.0000
1:33533049:C:CA	donor_loss	1.0000
1:33533049:CC:C	donor_gain	1.0000
1:33537706:T:TA	donor_gain	1.0000
1:33567591:A:AC	donor_gain	1.0000
1:33567592:C:CC	donor_gain	1.0000
1:33567592:CG:C	donor_gain	1.0000
1:33567592:CGCA:C	donor_gain	1.0000
1:33567779:A:AC	acceptor_gain	1.0000
1:33567779:A:C	acceptor_gain	1.0000
1:33569548:C:CC	acceptor_gain	1.0000
1:33571520:T:TA	donor_gain	1.0000
1:33571526:GCTTA:G	donor_loss	1.0000

AlphaMissense

23823 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:33519863:G:C	P3418R	1.000
1:33533075:C:A	W3238C	1.000
1:33533075:C:G	W3238C	1.000
1:33533077:A:G	W3238R	1.000
1:33533077:A:T	W3238R	1.000
1:33533094:C:G	C3232S	1.000
1:33533095:A:G	C3232R	1.000
1:33533095:A:T	C3232S	1.000
1:33533100:C:G	R3230P	1.000
1:33533821:C:A	W3178C	1.000
1:33533821:C:G	W3178C	1.000
1:33533823:A:G	W3178R	1.000
1:33533823:A:T	W3178R	1.000
1:33537461:C:A	W3116C	1.000
1:33537461:C:G	W3116C	1.000
1:33537463:A:G	W3116R	1.000
1:33537463:A:T	W3116R	1.000
1:33541155:C:A	W3000C	1.000
1:33541155:C:G	W3000C	1.000
1:33542745:C:A	W2940C	1.000
1:33542745:C:G	W2940C	1.000
1:33542747:A:G	W2940R	1.000
1:33542747:A:T	W2940R	1.000
1:33542764:C:G	C2934S	1.000
1:33542765:A:T	C2934S	1.000
1:33546062:C:A	W2881C	1.000
1:33546062:C:G	W2881C	1.000
1:33550202:C:A	W2820C	1.000
1:33550202:C:G	W2820C	1.000
1:33550221:C:G	C2814S	1.000

dbSNP variants (sampled 300 via entrez): RS1000001633 (1:34166674 AT>A), RS1000003839 (1:33644887 C>T), RS1000004851 (1:34113554 C>T), RS1000011724 (1:33800119 C>T), RS1000022142 (1:33895639 A>G), RS1000022403 (1:33970485 C>T), RS1000028542 (1:33983681 C>T), RS1000033612 (1:33899871 T>C,G), RS1000036826 (1:33806879 G>C), RS1000039630 (1:34042880 G>A,C), RS1000042171 (1:33956918 C>T), RS1000045413 (1:33826247 A>G), RS1000050130 (1:33547758 G>A,C), RS1000051617 (1:33851100 A>T), RS1000067464 (1:33840160 T>C)

Disease associations

OMIM: gene MIM:608398 | disease phenotypes: MIM:209850

GenCC curated gene-disease

Mondo (4): prostate cancer (MONDO:0008315), autism (MONDO:0005260), autism spectrum disorder (MONDO:0005258), attention deficit-hyperactivity disorder (MONDO:0007743)

Orphanet (2): Familial prostate cancer (Orphanet:1331), NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000717	Autism

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST000246_25	Attention deficit hyperactivity disorder	5.000000e-07
GCST000597_7	Brain structure	1.000000e-06
GCST001428_7	Intelligence	8.000000e-08
GCST001651_65	Response to amphetamines	9.000000e-06
GCST001823_14	Metabolite levels (HVA/MHPG ratio)	8.000000e-06
GCST002755_5	Depressive symptoms (SSRI exposure interaction)	1.000000e-06
GCST002868_14	Response to serotonin reuptake inhibitors in major depressive disorder	1.000000e-06
GCST003329_6	Response to anti-TNF therapy in rheumatoid arthritis	8.000000e-06
GCST003560_15	Coronary artery aneurysm in Kawasaki disease	5.000000e-06
GCST004250_54	Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL)	7.000000e-06
GCST004273_2	Venlafaxine response in generalised anxiety disorder (remitters vs non-remitters after 24 weeks)	9.000000e-06
GCST006464_1	Endometrial cancer	5.000000e-08
GCST006465_8	Endometrial cancer (endometrioid histology)	9.000000e-08
GCST008156_49	Hip circumference adjusted for BMI	3.000000e-06
GCST008171_32	Platelet aggregation	6.000000e-06
GCST008368_1	Plasma anti-thyroid peroxidase levels	6.000000e-07
GCST010206_2	Anorectal malformation	5.000000e-18
GCST010988_527	Adult body size	5.000000e-09
GCST012324_1	LDL levels x SSRI defined daily dose interaction in schizophrenia or bipolar disorder	5.000000e-07
GCST012487_2	Response to lithium treatment in bipolar disorder (continuous phenotype)	5.000000e-07

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0005131	HVA measurement
EFO:0005133	MHPG measurement
EFO:0007006	depressive symptom measurement
EFO:0007010	drug use measurement
EFO:0007011	SSRI use measurement
EFO:0005658	response to selective serotonin reuptake inhibitor
EFO:0004653	response to TNF antagonist
EFO:0007965	response to combination chemotherapy
EFO:0008039	BMI-adjusted hip circumference
EFO:0004611	low density lipoprotein cholesterol measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs506546	CSMD2		0.00	0

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, increases mutagenesis, affects methylation, decreases methylation	3
Valproic Acid	increases methylation	2
bisphenol A	affects cotreatment, affects methylation	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
tebuconazole	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	decreases expression	1
Fulvestrant	affects cotreatment, affects methylation, increases methylation	1
Acetaminophen	decreases expression	1
Atrazine	decreases expression	1
Calcitriol	increases expression	1
Catechin	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	increases expression	1
Estradiol	increases expression, affects cotreatment	1
Methapyrilene	increases methylation	1
Progesterone	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	increases methylation	1
Triclosan	increases expression	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer