DGCR2

Summary

DGCR2 (DiGeorge syndrome critical region gene 2, HGNC:2845) is a protein-coding gene on chromosome 22q11.21, encoding Integral membrane protein DGCR2/IDD (P98153). Putative adhesion receptor, that could be involved in cell-cell or cell-matrix interactions required for normal cell differentiation and migration.

Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 9993 — RefSeq curated summary.

At a glance

• Gene–disease (curated): schizophrenia (Limited, GenCC)
• Clinical variants (ClinVar): 147 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 39
• MANE Select transcript: NM_005137

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2845
Approved symbol	DGCR2
Name	DiGeorge syndrome critical region gene 2
Location	22q11.21
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0163, LAN, IDD, DGS-C, SEZ-12
Ensembl gene	ENSG00000070413
Ensembl biotype	protein_coding
OMIM	600594
Entrez	9993

Gene structure

Transcript identifiers

Ensembl transcripts: 39 — 35 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000263196, ENST00000389262, ENST00000467659, ENST00000473832, ENST00000537045, ENST00000608548, ENST00000907534, ENST00000907535, ENST00000907536, ENST00000907537, ENST00000907538, ENST00000907539, ENST00000907540, ENST00000907541, ENST00000907542, ENST00000907543, ENST00000907544, ENST00000907545, ENST00000907546, ENST00000907547, ENST00000907548, ENST00000907549, ENST00000935666, ENST00000935667, ENST00000935668, ENST00000935669, ENST00000935670, ENST00000955006, ENST00000955007, ENST00000955008, ENST00000955009, ENST00000955010, ENST00000955011, ENST00000955012, ENST00000955013, ENST00000955014, ENST00000955015, ENST00000955016, ENST00000955017

RefSeq mRNA: 4 — MANE Select: NM_005137 NM_001173533, NM_001173534, NM_001184781, NM_005137

CCDS: CCDS33598, CCDS54496

Canonical transcript exons

ENST00000263196 — 10 exons

Exon	Start	End
ENSE00001505305	19064848	19065067
ENSE00003509087	19068100	19068225
ENSE00003526069	19089368	19089490
ENSE00003532380	19063202	19063278
ENSE00003605226	19056986	19057162
ENSE00003635725	19048440	19048643
ENSE00003739728	19041807	19041959
ENSE00003746017	19041058	19041294
ENSE00003847150	19122128	19122412
ENSE00003971896	19036286	19039121

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 96.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.6993 / max 238.3504, expressed in 1815 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
193128	42.5262	1815
193124	0.0950	31
193123	0.0781	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
penis	UBERON:0000989	96.34	gold quality
nipple	UBERON:0002030	96.24	gold quality
lateral globus pallidus	UBERON:0002476	95.88	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.57	gold quality
ventral tegmental area	UBERON:0002691	95.39	gold quality
parotid gland	UBERON:0001831	95.33	gold quality
superior vestibular nucleus	UBERON:0007227	95.29	gold quality
hair follicle	UBERON:0002073	95.25	gold quality
pons	UBERON:0000988	95.06	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.00	gold quality
tendon of biceps brachii	UBERON:0008188	94.97	gold quality
substantia nigra pars compacta	UBERON:0001965	94.96	gold quality
Brodmann (1909) area 10	UBERON:0013541	94.96	gold quality
pylorus	UBERON:0001166	94.78	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.77	gold quality
renal medulla	UBERON:0000362	94.65	gold quality
cerebellar vermis	UBERON:0004720	94.58	gold quality
skin of leg	UBERON:0001511	94.54	gold quality
upper arm skin	UBERON:0004263	94.42	gold quality
urethra	UBERON:0000057	94.39	gold quality
occipital lobe	UBERON:0002021	94.33	gold quality
primary visual cortex	UBERON:0002436	94.29	gold quality
prefrontal cortex	UBERON:0000451	94.19	gold quality
medulla oblongata	UBERON:0001896	94.17	gold quality
paraflocculus	UBERON:0005351	94.14	gold quality
skin of abdomen	UBERON:0001416	94.05	gold quality
inferior vagus X ganglion	UBERON:0005363	94.03	gold quality
dorsal plus ventral thalamus	UBERON:0001897	94.01	gold quality
pharyngeal mucosa	UBERON:0000355	93.84	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.71	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.56
E-GEOD-93593	yes	3.97
E-ENAD-17	no	218.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

48 targeting DGCR2, 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-8485	100.00	77.57	4731
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-183-5P	99.31	72.27	1164
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-3199	99.17	65.19	696

Literature-anchored findings (GeneRIF, showing 4)

• Study confirmed the association between DGCR2 & schizophrenia through genotyping of 1,400 subjects; in a gene expression analysis, the risk allele of a coding SNP associated with schizophrenia was found to be associated with a reduced expression of DGCR2. (PMID:16783572)
• These data do not support a significant role of DGCR2 in the aetiology of schizophrenia in the German population. (PMID:19668116)
• DGCR2, GPR44 and SerpinB10, found in beta cells, were negative in all other cell types within pancreas and exposed epitopes at the cell surface (PMID:22465717)
• While no association between DGCR2 polymorphisms and schizophrenia was found, the missense variant rs2072123 was associated to left rostral anterior cingulate thickness, showing that DGCR2 seems not to be associated directly with the schizophrenia but might be influencing the brain morphology. We also showed a DGCR2 downregulation in schizophrenia patients when compared to controls and first episode of psychosis. (PMID:30901624)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	dgcr2	ENSDARG00000042962
mus_musculus	Dgcr2	ENSMUSG00000003166
rattus_norvegicus	Dgcr2	ENSRNOG00000061814
drosophila_melanogaster	CG32647	FBGN0052647

Protein

Protein identifiers

Integral membrane protein DGCR2/IDD — P98153 (reviewed: P98153)

All UniProt accessions (2): P98153, Q5CZ70

UniProt curated annotations — full annotation on UniProt →

Function. Putative adhesion receptor, that could be involved in cell-cell or cell-matrix interactions required for normal cell differentiation and migration.

Subcellular location. Membrane.

Tissue specificity. Predominantly expressed in brain, heart, lung and fetal kidney. Low levels in liver and adult kidney.

Isoforms (3)

UniProt ID	Names	Canonical?
P98153-1	1	yes
P98153-2	2
P98153-3	3

RefSeq proteins (4): NP_001167004, NP_001167005, NP_001171710, NP_005128* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001007	VWF_dom	Domain
IPR001304	C-type_lectin-like	Domain
IPR002172	LDrepeatLR_classA_rpt	Repeat
IPR016186	C-type_lectin-like/link_sf	Homologous_superfamily
IPR016187	CTDL_fold	Homologous_superfamily
IPR023415	LDLR_class-A_CS	Conserved_site
IPR034010	DGCR2-like_CTLD	Domain
IPR036055	LDL_receptor-like_sf	Homologous_superfamily
IPR042378	IDD	Family

Pfam: PF00057, PF00059

UniProt features (23 total): disulfide bond 5, splice variant 3, domain 3, glycosylation site 2, topological domain 2, region of interest 2, signal peptide 1, chain 1, compositionally biased region 1, modified residue 1, sequence variant 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P98153-F1	63.74	0.08

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 (1): 381

Disulfide bonds (5): 30–44, 37–57, 51–66, 145–265, 233–257

Glycosylation sites (2): 149, 196

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 219 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, GOBP_COGNITION, GCANCTGNY_MYOD_Q6, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, YY1_Q6, PATIL_LIVER_CANCER, MODULE_66, MARTINEZ_RB1_TARGETS_UP, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, CATTTCA_MIR203, ONKEN_UVEAL_MELANOMA_UP, YY1_02

GO Biological Process (3): cell adhesion (GO:0007155), animal organ morphogenesis (GO:0009887), cognition (GO:0050890)

GO Molecular Function (2): carbohydrate binding (GO:0030246), protein binding (GO:0005515)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cellular process	1
anatomical structure morphogenesis	1
animal organ development	1
nervous system process	1
cellular anatomical structure	1

Protein interactions and networks

STRING

998 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DGCR2	HIRA	P54198	857
DGCR2	ESS2	Q96DF8	856
DGCR2	DGCR6	Q14129	842
DGCR2	DGCR6L	Q9BY27	831
DGCR2	ZNF74	Q16587	809
DGCR2	SLC25A1	P53007	799
DGCR2	PRODH	O43272	780
DGCR2	PRODH	O43272	766
DGCR2	UFD1	Q92890	751
DGCR2	ZDHHC8	Q9ULC8	742
DGCR2	CLTCL1	P53675	725
DGCR2	GNB1L	Q9BYB4	714
DGCR2	COMT	P21964	687
DGCR2	TBX1	O43435	660
DGCR2	GSC2	O15499	630

IntAct

65 interactions, top by confidence:

A	B	Type	Score
CENPH	NDC80	psi-mi:“MI:0914”(association)	0.800
DGCR2	DOCK4	psi-mi:“MI:0915”(physical association)	0.620
ADAM33	LRP5	psi-mi:“MI:0914”(association)	0.530
RPS6KA1	HSP90AA1	psi-mi:“MI:0914”(association)	0.530
CENPH	PSMD11	psi-mi:“MI:0914”(association)	0.530
OGFOD3	CLGN	psi-mi:“MI:0914”(association)	0.530
TIMP3	ZZEF1	psi-mi:“MI:0914”(association)	0.530
URB2	RPL13A	psi-mi:“MI:0914”(association)	0.530
DGCR2	HOXD13	psi-mi:“MI:0914”(association)	0.530
C19orf25	TDP2	psi-mi:“MI:0914”(association)	0.530
HOXD13	EEF1D	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
DGCR2	DDIT3	psi-mi:“MI:0915”(physical association)	0.370
DGCR2	SMURF2	psi-mi:“MI:0915”(physical association)	0.370
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
DNAJC2	RPS3A	psi-mi:“MI:0914”(association)	0.350
ATP2B2	ESYT2	psi-mi:“MI:0914”(association)	0.350
KLRC1	METTL15	psi-mi:“MI:0914”(association)	0.350
FAM168A	CCDC85C	psi-mi:“MI:0914”(association)	0.350
DGCR2	CCDC85C	psi-mi:“MI:0914”(association)	0.350
ADAM33	ADAM10	psi-mi:“MI:0914”(association)	0.350
WWP1	TP73	psi-mi:“MI:0914”(association)	0.350
TMEM106A	TMEM131L	psi-mi:“MI:0914”(association)	0.350
HLA-G	TMEM131L	psi-mi:“MI:0914”(association)	0.350
BTNL2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
KLRD1	TMEM131L	psi-mi:“MI:0914”(association)	0.350
UPK2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SFTPC	TMEM131L	psi-mi:“MI:0914”(association)	0.350
BRICD5	TMEM131L	psi-mi:“MI:0914”(association)	0.350

BioGRID (189): DGCR2 (Affinity Capture-MS), DGCR2 (Affinity Capture-MS), DGCR2 (Affinity Capture-MS), DGCR2 (Affinity Capture-MS), DGCR2 (Affinity Capture-MS), DGCR2 (Affinity Capture-MS), DGCR2 (Affinity Capture-MS), DGCR2 (Affinity Capture-MS), DGCR2 (Affinity Capture-MS), DGCR2 (Proximity Label-MS), DGCR2 (Proximity Label-MS), DGCR2 (Proximity Label-MS), DGCR2 (Proximity Label-MS), DGCR2 (Proximity Label-MS), DGCR2 (Proximity Label-MS)

ESM2 similar proteins: A2AR95, A4IHY6, B7ZWI3, D3ZF92, O15165, O43278, O75509, O88204, P98153, P98154, Q0VBF2, Q1L8G6, Q29RU0, Q4KMG9, Q566M8, Q5DTZ6, Q5HZW5, Q5R662, Q5R8E0, Q5RD34, Q5RF74, Q5VUB5, Q61003, Q68FU0, Q6AXS2, Q6NRX0, Q6UWW9, Q6ZPS6, Q6ZUJ8, Q7TQH7, Q86YD5, Q8BGN6, Q8BLD6, Q8BUJ9, Q8R182, Q8TEB7, Q8WUU8, Q91ZV2, Q91ZV3, Q96PD2

Diamond homologs: A2AR95, A2ARV4, A4IHY6, C0HL13, E9Q6D8, G3V928, O75074, O75197, O75581, O88204, O88307, O88572, P0DSP1, P13671, P35953, P56677, P61134, P61135, P86091, P98153, P98154, P98155, P98156, P98157, P98158, P98160, P98163, P98164, P98165, P98166, P98167, Q04833, Q06561, Q07954, Q0IIH7, Q14114, Q28832, Q29RU4, Q5HZW5, Q5R662

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 89 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.

GO biological processes:

GO term	Partners	Fold	FDR
ERAD pathway	6	13.3×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	116
Likely benign	6
Benign	5

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
625684	GRCh37/hg19 22q11.21(chr22:18892575-21460220)	Pathogenic
974746	NC_000022.10:g.18687210_19060954dup	Likely pathogenic

SpliceAI

1957 predictions. Top by Δscore:

Variant	Effect	Δscore
22:19039119:CGT:C	acceptor_gain	1.0000
22:19039122:C:CC	acceptor_gain	1.0000
22:19041077:A:AC	donor_gain	1.0000
22:19041078:C:CC	donor_gain	1.0000
22:19041304:C:CT	acceptor_gain	1.0000
22:19041305:A:T	acceptor_gain	1.0000
22:19041309:G:GC	acceptor_gain	1.0000
22:19041311:G:C	acceptor_gain	1.0000
22:19041311:G:GC	acceptor_gain	1.0000
22:19041803:TTACA:T	donor_loss	1.0000
22:19041804:TAC:T	donor_loss	1.0000
22:19041805:A:AC	donor_gain	1.0000
22:19041805:ACA:A	donor_loss	1.0000
22:19041806:C:CA	donor_gain	1.0000
22:19041806:CA:C	donor_gain	1.0000
22:19041806:CAG:C	donor_gain	1.0000
22:19041806:CAGT:C	donor_gain	1.0000
22:19041806:CAGTT:C	donor_gain	1.0000
22:19041956:CCAT:C	acceptor_gain	1.0000
22:19041957:CAT:C	acceptor_gain	1.0000
22:19041957:CATC:C	acceptor_gain	1.0000
22:19041958:AT:A	acceptor_gain	1.0000
22:19041958:ATC:A	acceptor_loss	1.0000
22:19041959:TC:T	acceptor_loss	1.0000
22:19041960:C:CC	acceptor_gain	1.0000
22:19041960:C:CG	acceptor_loss	1.0000
22:19041961:T:G	acceptor_loss	1.0000
22:19056984:A:AC	donor_gain	1.0000
22:19056985:C:CC	donor_gain	1.0000
22:19056985:CTT:C	donor_gain	1.0000

AlphaMissense

3628 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:19041907:G:C	S353R	0.999
22:19041907:G:T	S353R	0.999
22:19041909:T:G	S353R	0.999
22:19048457:A:C	F330C	0.999
22:19041906:A:G	C354R	0.998
22:19048456:G:C	F330L	0.998
22:19048456:G:T	F330L	0.998
22:19048458:A:G	F330L	0.998
22:19048463:C:T	C328Y	0.998
22:19048514:C:G	C311S	0.998
22:19048515:A:T	C311S	0.998
22:19048529:C:G	C306S	0.998
22:19048530:A:G	C306R	0.998
22:19048530:A:T	C306S	0.998
22:19048553:C:G	C298S	0.998
22:19048554:A:G	C298R	0.998
22:19048554:A:T	C298S	0.998
22:19048558:G:C	C296W	0.998
22:19048559:C:G	C296S	0.998
22:19048559:C:T	C296Y	0.998
22:19048560:A:G	C296R	0.998
22:19048560:A:T	C296S	0.998
22:19048569:A:G	C293R	0.998
22:19048591:G:C	F285L	0.998
22:19048591:G:T	F285L	0.998
22:19048592:A:C	F285C	0.998
22:19048593:A:G	F285L	0.998
22:19048634:C:G	C271S	0.998
22:19048635:A:G	C271R	0.998
22:19048635:A:T	C271S	0.998

dbSNP variants (sampled 300 via entrez): RS1000012699 (22:19093964 A>G), RS1000057929 (22:19047835 C>A), RS1000069189 (22:19097796 A>C), RS1000078650 (22:19098159 C>T), RS1000087302 (22:19121148 A>C), RS1000124548 (22:19087516 T>A), RS1000139635 (22:19120752 T>C,G), RS1000141745 (22:19061804 G>A,C), RS1000177369 (22:19087765 A>C), RS1000187293 (22:19051409 T>C,G), RS1000198174 (22:19085640 G>A), RS1000339398 (22:19045175 G>A), RS1000344910 (22:19042545 G>A), RS1000352758 (22:19093250 C>T), RS1000372021 (22:19044962 G>C,T)

Disease associations

OMIM: gene MIM:600594 | disease phenotypes: MIM:188400

GenCC curated gene-disease

Disease	Classification	Inheritance
schizophrenia	Limited	Autosomal dominant

Mondo (4): primary ovarian failure (MONDO:0005387), DiGeorge syndrome (MONDO:0008564), megacolon (MONDO:0001273), schizophrenia (MONDO:0005090)

Orphanet (2): 22q11.2 deletion syndrome (Orphanet:567), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

39 total (30 of 39 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000194	Open mouth
HP:0000201	Pierre-Robin sequence
HP:0000220	Velopharyngeal insufficiency
HP:0000252	Microcephaly
HP:0000278	Retrognathia
HP:0000414	Bulbous nose
HP:0000430	Underdeveloped nasal alae
HP:0000581	Blepharophimosis
HP:0000598	Abnormality of the ear
HP:0000627	Posterior embryotoxon
HP:0000712	Emotional lability
HP:0000718	Aggressive behavior
HP:0000829	Hypoparathyroidism
HP:0001155	Abnormality of the hand
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001328	Specific learning disability
HP:0001537	Umbilical hernia
HP:0001611	Hypernasal speech
HP:0001629	Ventricular septal defect
HP:0001636	Tetralogy of Fallot
HP:0001883	Talipes
HP:0002627	Right aortic arch with mirror image branching
HP:0002719	Recurrent infections
HP:0002901	Hypocalcemia

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D004062	DiGeorge Syndrome	C05.660.207.103.500; C14.240.400.021.500; C14.280.400.044.500; C15.604.451.249.500; C16.131.077.019.500; C16.131.240.400.021.500; C16.131.260.019.500; C16.131.482.249.500; C16.131.621.207.103.500; C16.320.180.019.500; C19.642.482.500.500
D008531	Megacolon	C06.405.469.158.701
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, affects cotreatment, increases expression	2
sodium arsenite	increases expression, decreases expression, increases abundance	2
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	decreases expression	1
beta-methylcholine	affects expression	1
(+)-JQ1 compound	increases expression	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
Arsenic	increases abundance, increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	increases expression, affects cotreatment	1
Methapyrilene	decreases methylation	1
Rotenone	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Valproic Acid	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_E7NE	KOLF2.1J DGCR2 83.5kbdel DEL/DEL	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00000374	PHASE4	COMPLETED	Treatment for First-Episode Schizophrenia
NCT00001656	PHASE4	COMPLETED	Comparison of Clozapine vs Olanzapine in Childhood-Onset Psychotic Disorders
NCT00007774	PHASE4	COMPLETED	To Determine if Olanzapine is More Cost Effective Than Haloperidol for the Treatment of Schizophrenia
NCT00014001	PHASE4	COMPLETED	CATIE- Schizophrenia Trial
NCT00018668	PHASE4	COMPLETED	Antipsychotic Response in Schizophrenia
NCT00034801	PHASE4	COMPLETED	Olanzapine Versus Active Comparator in the Treatment of Depression in Patients With Schizophrenia
NCT00034905	PHASE4	COMPLETED	A Comparison of Seroquel vs. Risperidone in Schizophrenia
NCT00036088	PHASE4	COMPLETED	Olanzapine Versus An Active Comparator in the Treatment of Schizophrenia
NCT00044187	PHASE4	COMPLETED	The Assessment of a Weight-Gain Agent for the Treatment of Olanzapine-Associated Anti-Obesity Agent in Patients With Schizophrenia, Schizophreniform Disorder, Schizoaffective Disorder, and Bipolar I Disorder
NCT00044655	PHASE4	COMPLETED	Switching Medication to Treat Schizophrenia
NCT00048828	PHASE4	COMPLETED	Treating Drug-Resistant Childhood Schizophrenia
NCT00053703	PHASE4	COMPLETED	Treatment of Early Onset Schizophrenia Spectrum Disorders (TEOSS)
NCT00056498	PHASE4	COMPLETED	Risperidone Treatment in Schizophrenia Patients Who Are Currently Taking Clozapine
NCT00061802	PHASE4	COMPLETED	Efficacy and Safety of Two Atypical Antipsychotics vs. Placebo in Patients With an Acute Exacerbation of Either Schizophrenia or Schizoaffective Disorder
NCT00080327	PHASE4	COMPLETED	Study of Three Doses of Aripiprazole in Patients With Acute Schizophrenia
NCT00088049	PHASE4	COMPLETED	Study of Olanzapine vs. Aripiprazole in the Treatment of Schizophrenia
NCT00090012	PHASE4	COMPLETED	Comparison of Continuing Olanzapine to Switching to Quetiapine in Overweight or Obese Patients With Schizophrenia and Schizoaffective Disorder
NCT00100776	PHASE4	COMPLETED	Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder
NCT00103571	PHASE4	COMPLETED	Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia
NCT00108368	PHASE4	COMPLETED	The Effects of Risperidone and Olanzapine on Thinking
NCT00114595	PHASE4	COMPLETED	Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia
NCT00130923	PHASE4	COMPLETED	Risperidone Long-acting Versus Oral Risperidone in Patients With Schizophrenia and Alcohol Use Disorder
NCT00137020	PHASE4	COMPLETED	Clinical Effect Of Cross Titration Of Antipsychotics With Ziprasidone In Schizophrenia Or Schizoaffective Disorder
NCT00140166	PHASE4	COMPLETED	Treatment of Acute Schizophrenia With Vitamin Therapy
NCT00145847	PHASE4	COMPLETED	Naltrexone Treatment of Alcohol Abuse in Schizophrenia
NCT00148564	PHASE4	COMPLETED	Energy Homeostasis Under Treatment With Atypical Antipsychotics
NCT00156715	PHASE4	COMPLETED	Efficacy of Quetiapine in the Treatment of Patients With Schizophrenia and a Comorbid Substance Use Disorder
NCT00158223	PHASE4	COMPLETED	Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia
NCT00159081	PHASE4	COMPLETED	One Year Drug Treatment in First-Episode Schizophrenia
NCT00159120	PHASE4	COMPLETED	Maintenance Treatment vs. Stepwise Drug Discontinuation in First-Episode Schizophrenia
NCT00159133	PHASE4	COMPLETED	Prodrome-Based Early Intervention With Antipsychotics vs. Benzodiazepines in First-Episode Schizophrenia
NCT00159757	PHASE4	TERMINATED	12 Week Open, Non-Comparative Switch Study Of Oral Ziprazidone In Previously Treated Schizophrenic Patients
NCT00167817	PHASE4	COMPLETED	Effect of Switch to Aripiprazole on Health and Smoking Parameters in Patients With Schizophrenia: A Pilot Study
NCT00169026	PHASE4	TERMINATED	Alcoholism and Schizophrenia: Effects of Clozapine
NCT00169039	PHASE4	TERMINATED	Clozapine Versus Chlorpromazine for Treatment-Unresponsive Schizophrenia
NCT00169065	PHASE4	COMPLETED	Effectiveness of Clozapine Versus Olanzapine for Treatment-resistant Schizophrenia
NCT00169091	PHASE4	TERMINATED	Clozapine Versus Haloperidol for Treating the First Episode of Schizophrenia
NCT00176423	PHASE4	COMPLETED	Efficacy Study of Galantamine for Cognitive Impairments in Schizophrenia
NCT00176436	PHASE4	COMPLETED	Atomoxetine for Treatment of Weight Gain in Olanzapine or Clozapine Patients
NCT00177008	PHASE4	COMPLETED	Aripiprazole for the Treatment of Schizophrenia With Co-Morbid Social Anxiety