WDR83

Summary

WDR83 (WD repeat domain 83, HGNC:32672) is a protein-coding gene on chromosome 19p13.13, encoding WD repeat domain-containing protein 83 (Q9BRX9). Molecular scaffold protein for various multimeric protein complexes. It is a selective cancer dependency (DepMap: 47.4% of cell lines).

This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3 (EGLN3, also known as PHD3) and regulates expression of hypoxia-inducible factor 1, and has been purified as part of the spliceosome. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 84292 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 62 total — 5 pathogenic
• Cancer dependency (DepMap): dependent in 47.4% of screened cell lines
• MANE Select transcript: NM_001099737

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32672
Approved symbol	WDR83
Name	WD repeat domain 83
Location	19p13.13
Locus type	gene with protein product
Status	Approved
Aliases	MORG1
Ensembl gene	ENSG00000123154
Ensembl biotype	protein_coding
OMIM	616850
Entrez	84292

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 8 protein_coding, 5 retained_intron, 4 nonsense_mediated_decay

ENST00000418543, ENST00000425834, ENST00000546754, ENST00000547255, ENST00000547481, ENST00000547797, ENST00000548381, ENST00000550939, ENST00000551329, ENST00000552700, ENST00000553179, ENST00000862475, ENST00000862476, ENST00000862477, ENST00000862478, ENST00000862479, ENST00000862480

RefSeq mRNA: 2 — MANE Select: NM_001099737 NM_001099737, NM_032332

CCDS: CCDS12275

Canonical transcript exons

ENST00000418543 — 11 exons

Exon	Start	End
ENSE00000836302	12669977	12670097
ENSE00001591916	12669755	12669893
ENSE00001607992	12668508	12668627
ENSE00002377323	12666807	12666992
ENSE00002408045	12675523	12675832
ENSE00003486972	12670180	12670285
ENSE00003489601	12673202	12673316
ENSE00003566739	12672847	12672914
ENSE00003585186	12673008	12673116
ENSE00003610721	12670563	12670611
ENSE00003640233	12670695	12670821

Expression profiles

Bgee: expression breadth ubiquitous, 182 present calls, max score 90.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.7711 / max 76.3930, expressed in 1760 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
174001	2.6797	1324
174002	2.1331	1101
174000	1.9584	1253

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	90.87	gold quality
cerebellar hemisphere	UBERON:0002245	90.68	gold quality
cerebellar cortex	UBERON:0002129	90.57	gold quality
cerebellum	UBERON:0002037	89.29	gold quality
prefrontal cortex	UBERON:0000451	88.77	gold quality
right frontal lobe	UBERON:0002810	87.40	gold quality
Brodmann (1909) area 9	UBERON:0013540	87.39	gold quality
granulocyte	CL:0000094	87.32	gold quality
anterior cingulate cortex	UBERON:0009835	87.28	gold quality
apex of heart	UBERON:0002098	86.70	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.98	gold quality
hypothalamus	UBERON:0001898	85.57	gold quality
skin of leg	UBERON:0001511	85.30	gold quality
amygdala	UBERON:0001876	84.99	gold quality
skin of abdomen	UBERON:0001416	84.71	gold quality
neocortex	UBERON:0001950	84.53	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	84.51	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	84.51	gold quality
right lobe of thyroid gland	UBERON:0001119	84.49	gold quality
frontal cortex	UBERON:0001870	84.48	gold quality
left ovary	UBERON:0002119	84.14	gold quality
body of stomach	UBERON:0001161	84.03	gold quality
mucosa of transverse colon	UBERON:0004991	84.00	gold quality
right ovary	UBERON:0002118	83.99	gold quality
left adrenal gland cortex	UBERON:0035825	83.82	gold quality
putamen	UBERON:0001874	83.80	gold quality
nucleus accumbens	UBERON:0001882	83.79	gold quality
cortical plate	UBERON:0005343	83.70	gold quality
adenohypophysis	UBERON:0002196	83.66	gold quality
right adrenal gland	UBERON:0001233	83.55	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	7.43
E-CURD-135	no	1092.24
E-GEOD-99795	no	48.00
E-ANND-3	no	2.39

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): EPAS1, HIF1A

miRNA regulators (miRDB)

8 targeting WDR83, 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-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-5690	99.25	67.58	1012
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-4662B	98.33	66.37	1163
HSA-MIR-4647	98.30	66.41	1139
HSA-MIR-517-5P	97.13	68.43	781

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 47.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 8)

• Includes the identification of this protein in C complex spliceosomes. (PMID:11991638)
• Component of a modular scaffold system that participates in the regulation of agonist-specific ERK signaling. (PMID:15118098)
• Functional characterization of the homologous rat gene. (PMID:16407229)
• Morg1 expression is reduced in human brain tissue with ischemic damage. Reactive astrocytes in the surrounding brain tissue showed strong Morg1 expression. (PMID:19429104)
• WDR83 and DHPS were capable of forming an RNA duplex at overlapping 3’ untranslated regions and this duplex increased their mutual stability, which was required for the bidirectional regulation. (PMID:22491477)
• Morg1 facilitates Par6-aPKC binding to Crb3 for definition of apical identity of epithelial cells. (PMID:23439680)
• Cloning of the Human MORG1 Promoter: Differential Regulation by Hypoxia and Prolyl-Hydroxylase Inhibitors. (PMID:35327980)
• WDR83/MORG1 inhibits RRAG GTPase-MTORC1 signaling to facilitate basal autophagy. (PMID:38450633)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	wdr83	ENSDARG00000041600
mus_musculus	Wdr83	ENSMUSG00000005150
rattus_norvegicus	Wdr83	ENSRNOG00000004287
drosophila_melanogaster	CG4935	FBGN0028897
caenorhabditis_elegans		WBGENE00018014

Protein

Protein identifiers

WD repeat domain-containing protein 83 — Q9BRX9 (reviewed: Q9BRX9)

Alternative names: Mitogen-activated protein kinase organizer 1

All UniProt accessions (5): Q9BRX9, F8VSE4, G3V221, H0YIE8, H7C0S9

UniProt curated annotations — full annotation on UniProt →

Function. Molecular scaffold protein for various multimeric protein complexes. Acts as a module in the assembly of a multicomponent scaffold for the ERK pathway, linking ERK responses to specific agonists. At low concentrations it enhances ERK activation, whereas high concentrations lead to the inhibition of ERK activation. Also involved in response to hypoxia by acting as a negative regulator of HIF1A/HIF-1-alpha via its interaction with EGLN3/PHD3. May promote degradation of HIF1A. May act by recruiting signaling complexes to a specific upstream activator. May also be involved in pre-mRNA splicing. Participates in tight junction development by regulating apico-basal polarity, a key step in tissue development and organization. Mechanistically, regulates the translocation of PAR6-aPKC from the cytoplasm to the apical surface by acting as an adapter between PARD6B AND CRB3. Also acts as a negative regulator of mTORC1 under nutrient-rich conditions by binding to the active Rag GTPases to inhibit mTORC1 localization to the lysosome and phosphorylation of downstream targets. This facilitates constitutive basal autophagy during nutrient availability.

Subunit / interactions. Interacts with EGLN3/PHD3. Interacts with ERK signaling proteins MAP2K1/MEK1, MAP2K2/MEK2, LAMTOR3, ARAF/Raf-1, MAPK1/ERK2 and MAPK3/ERK1. Identified in the spliceosome C complex. Interacts with PARD6B and CRB3. Interacts strongly with GTP-bound RRAGA but not with inactive GDP-bound. Interacts with p62/SQSTM1.

Subcellular location. Cytoplasm. Lysosome. Nucleus.

Similarity. Belongs to the WD repeat MORG1 family.

RefSeq proteins (2): NP_001093207, NP_115708 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR020472	WD40_PAC1	Repeat
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR051980	WD_repeat_MORG1	Family

Pfam: PF00400

UniProt features (12 total): repeat 7, sequence conflict 2, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BRX9-F1	93.44	0.90

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5674135	MAP2K and MAPK activation

MSigDB gene sets: 128 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INFLAMMATORY_RESPONSE, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_NEURAL_TUBE_DEVELOPMENT, GOBP_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM, CAGCTG_AP4_Q5, GOBP_PLACENTA_BLOOD_VESSEL_DEVELOPMENT, GOBP_RESPONSE_TO_OXYGEN_LEVELS, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_RNA_SPLICING, GOBP_RESPONSE_TO_LIPID, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_TUBE_FORMATION

GO Biological Process (11): RNA splicing, via transesterification reactions (GO:0000375), mRNA splicing, via spliceosome (GO:0000398), response to hypoxia (GO:0001666), neural tube closure (GO:0001843), response to lipopolysaccharide (GO:0032496), regulation of canonical NF-kappaB signal transduction (GO:0043122), placenta blood vessel development (GO:0060674), inflammatory response to wounding (GO:0090594), mRNA processing (GO:0006397), RNA splicing (GO:0008380), response to wounding (GO:0009611)

GO Molecular Function (2): protein binding (GO:0005515), kinase activity (GO:0016301)

GO Cellular Component (6): spliceosomal complex (GO:0005681), lysosome (GO:0005764), endosome membrane (GO:0010008), catalytic step 2 spliceosome (GO:0071013), nucleus (GO:0005634), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RAF/MAP kinase cascade	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to stress	2
RNA processing	2
RNA splicing	1
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
response to decreased oxygen levels	1
primary neural tube formation	1
tube closure	1
response to molecule of bacterial origin	1
response to lipid	1
response to oxygen-containing compound	1
canonical NF-kappaB signal transduction	1
regulation of intracellular signal transduction	1
blood vessel development	1
placenta development	1
inflammatory response	1
response to wounding	1
mRNA metabolic process	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
nuclear protein-containing complex	1
ribonucleoprotein complex	1
lytic vacuole	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
Prp19 complex	1
spliceosomal complex	1
U5 snRNP	1
catalytic complex	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1264 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WDR83	EGLN3	Q9H6Z9	945
WDR83	LAMTOR3	Q9UHA4	709
WDR83	KSR1	Q8IVT5	654
WDR83	WDR83OS	Q9Y284	646
WDR83	IQGAP1	P46940	614
WDR83	ARRB1	P49407	560
WDR83	CXXC1	Q9P0U4	519
WDR83	DHPS	P49366	518
WDR83	MAP2K1	Q02750	515
WDR83	OGFOD2	Q6N063	498
WDR83	ZC2HC1A	Q96GY0	496
WDR83	CCDC12	Q8WUD4	471
WDR83	MAPK3	P27361	460
WDR83	RBBP5	Q15291	453
WDR83	PXN	P49023	440

IntAct

246 interactions, top by confidence:

A	B	Type	Score
CEP97	CCP110	psi-mi:“MI:2364”(proximity)	0.950
NPHP1	NPHP4	psi-mi:“MI:2364”(proximity)	0.930
TAB1	MAP3K7	psi-mi:“MI:0914”(association)	0.900
CEP290	CCP110	psi-mi:“MI:2364”(proximity)	0.890
KEAP1	WDR83	psi-mi:“MI:0915”(physical association)	0.780
WDR83	KEAP1	psi-mi:“MI:0915”(physical association)	0.780
SNRPG	GEMIN2	psi-mi:“MI:0914”(association)	0.710
WDR83	HSPB1	psi-mi:“MI:0915”(physical association)	0.670
WDR83	CRK	psi-mi:“MI:0915”(physical association)	0.590
CRK	WDR83	psi-mi:“MI:0407”(direct interaction)	0.590
VAC14	WDR83	psi-mi:“MI:0915”(physical association)	0.560
TLX3	WDR83	psi-mi:“MI:0915”(physical association)	0.560
WDR83	FAM124B	psi-mi:“MI:0915”(physical association)	0.560
HOXA1	WDR83	psi-mi:“MI:0915”(physical association)	0.560
KCTD9	WDR83	psi-mi:“MI:0915”(physical association)	0.560
FRS3	WDR83	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	WDR83	psi-mi:“MI:0915”(physical association)	0.560
LONRF1	WDR83	psi-mi:“MI:0915”(physical association)	0.560
WDR83	GNE	psi-mi:“MI:0915”(physical association)	0.560
BCL6	WDR83	psi-mi:“MI:0915”(physical association)	0.560
NOXA1	WDR83	psi-mi:“MI:0915”(physical association)	0.560
PRKAB2	WDR83	psi-mi:“MI:0915”(physical association)	0.560
WDR83	DMWD	psi-mi:“MI:0915”(physical association)	0.560
WDR83		psi-mi:“MI:0915”(physical association)	0.560
WDR83	FLNA	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (372): WDR83 (Two-hybrid), WDR83 (Affinity Capture-MS), WDR83 (Affinity Capture-MS), WDR83 (Affinity Capture-MS), WDR83 (Affinity Capture-MS), CCT7 (Affinity Capture-MS), UBB (Affinity Capture-MS), KIAA1671 (Affinity Capture-MS), NUMA1 (Affinity Capture-MS), CCT3 (Affinity Capture-MS), RBM15B (Affinity Capture-MS), CWF19L2 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6A (Affinity Capture-MS), CCT2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8EXB5, A4QNE6, A8WGE3, B7PS00, O00628, O22466, O22467, O43684, O74184, P97865, Q12788, Q1JQB2, Q29RH4, Q29RZ9, Q2KJJ5, Q3KPT3, Q3KQ62, Q4R571, Q53HC9, Q561Y0, Q5BLX8, Q5I0B4, Q5M7F6, Q5M8I4, Q5PPK9, Q5RB58, Q5U2W5, Q5XGI5, Q5XJP1, Q6DH44, Q6DUZ9, Q6PA72, Q8AVT9, Q8BGF3, Q8C4J7, Q8K0G5, Q8NFH4, Q8R537, Q8VE80, Q96J01

Diamond homologs: C4JPW9, O43071, Q3KQ62, Q5BLX8, Q5XGI5, Q6DH44, Q9BRX9, Q9C1X0, Q9DAJ4, Q9SY00, A7EKM8, A8QBF3, A8WVX8, P38123, Q9VLN1, O14053, F1LTR1, O60907, P25569, Q28D01, Q4R8H1, Q5SP67, Q8C6G8, Q95RJ9, Q9H7D7, Q9QXE7, Q4V8C4, Q8N157, X1WHY6, A2QVV2, A8X8C6, O24467, O94527, P07834, P14197, P61964, P61965, Q09715, Q17963, Q23256

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
WDR83	up-regulates	MAP2K1	binding
WDR83	up-regulates	MAPK3	binding
WDR83	up-regulates	RAF1	binding
WDR83	up-regulates	MEK1/2	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 128 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
Anchoring of the basal body to the plasma membrane	18	23.7×	1e-17
Loss of Nlp from mitotic centrosomes	10	18.4×	1e-08
Loss of proteins required for interphase microtubule organization from the centrosome	10	18.4×	1e-08
AURKA Activation by TPX2	10	17.7×	2e-08
Recruitment of mitotic centrosome proteins and complexes	10	15.8×	5e-08
Regulation of PLK1 Activity at G2/M Transition	10	14.8×	8e-08
Recruitment of NuMA to mitotic centrosomes	10	13.6×	2e-07
snRNP Assembly	5	12.3×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
centriole replication	5	32.4×	8e-05
spliceosomal snRNP assembly	6	30.9×	9e-06
non-motile cilium assembly	6	15.4×	2e-04
mRNA splicing, via spliceosome	14	11.3×	2e-08
cilium assembly	13	8.5×	2e-06
RNA splicing	10	7.8×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	0
Uncertain significance	37
Likely benign	11
Benign	2

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
2577971	NM_016145.4(WDR83OS):c.255-4_260del	Pathogenic
3336829	NM_016145.4(WDR83OS):c.50+1G>T	Pathogenic
3336830	NM_016145.4(WDR83OS):c.156+2T>A	Pathogenic
3337986	NM_016145.4(WDR83OS):c.235C>T (p.Gln79Ter)	Pathogenic
3381747	NM_016145.4(WDR83OS):c.70G>T (p.Glu24Ter)	Pathogenic

SpliceAI

2429 predictions. Top by Δscore:

Variant	Effect	Δscore
19:12668518:A:AC	donor_gain	1.0000
19:12668519:C:CC	donor_gain	1.0000
19:12668532:A:AC	donor_gain	1.0000
19:12668532:AT:A	donor_gain	1.0000
19:12668618:C:CC	acceptor_gain	1.0000
19:12669146:CATG:C	donor_gain	1.0000
19:12669350:TCA:T	donor_loss	1.0000
19:12669351:CAC:C	donor_loss	1.0000
19:12669352:A:AT	donor_loss	1.0000
19:12669975:A:AG	acceptor_gain	1.0000
19:12669975:AGT:A	acceptor_gain	1.0000
19:12669975:AGTG:A	acceptor_gain	1.0000
19:12669976:G:GA	acceptor_gain	1.0000
19:12669976:GT:G	acceptor_gain	1.0000
19:12669976:GTG:G	acceptor_gain	1.0000
19:12669976:GTGG:G	acceptor_gain	1.0000
19:12670093:GCCGG:G	donor_gain	1.0000
19:12670709:A:AG	acceptor_gain	1.0000
19:12670710:G:GG	acceptor_gain	1.0000
19:12670817:GCAGG:G	donor_gain	1.0000
19:12670820:GG:G	donor_gain	1.0000
19:12670821:GG:G	donor_gain	1.0000
19:12670822:G:GG	donor_gain	1.0000
19:12670823:T:A	donor_loss	1.0000
19:12672910:GGGCA:G	donor_gain	1.0000
19:12672911:GGCA:G	donor_gain	1.0000
19:12672911:GGCAG:G	donor_gain	1.0000
19:12672912:GCA:G	donor_gain	1.0000
19:12672912:GCAG:G	donor_gain	1.0000
19:12672915:G:GG	donor_gain	1.0000

AlphaMissense

2023 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:12670609:C:A	S126Y	0.999
19:12670609:C:T	S126F	0.999
19:12670721:T:A	W136R	0.999
19:12670721:T:C	W136R	0.999
19:12670723:G:C	W136C	0.999
19:12670723:G:T	W136C	0.999
19:12669983:G:T	G37V	0.998
19:12670025:T:C	L51P	0.998
19:12670206:C:A	S84Y	0.998
19:12670235:T:A	W94R	0.998
19:12670235:T:C	W94R	0.998
19:12670608:T:C	S126P	0.998
19:12670695:G:A	G127D	0.998
19:12670697:T:C	S128P	0.998
19:12673083:T:C	L217P	0.998
19:12673272:A:C	S252R	0.998
19:12673274:C:A	S252R	0.998
19:12673274:C:G	S252R	0.998
19:12669892:T:A	N34K	0.997
19:12669892:T:G	N34K	0.997
19:12669998:C:A	T42K	0.997
19:12670002:C:G	C43W	0.997
19:12670027:T:A	W52R	0.997
19:12670027:T:C	W52R	0.997
19:12670060:T:G	Y63D	0.997
19:12670205:T:C	S84P	0.997
19:12670611:G:C	G127R	0.997
19:12670698:C:A	S128Y	0.997
19:12670698:C:T	S128F	0.997
19:12673031:A:C	S200R	0.997

dbSNP variants (sampled 300 via entrez): RS1000546631 (19:12669427 C>G,T), RS1000624419 (19:12673587 T>C), RS1000730248 (19:12672374 T>C), RS1000917887 (19:12669249 G>A,C), RS1001158984 (19:12675208 C>G), RS1001400495 (19:12674983 G>A,T), RS1001476105 (19:12667159 T>C), RS1001871017 (19:12673542 T>A,C), RS1002165997 (19:12673912 C>G), RS1002339 (19:12669973 C>A,T), RS1002400255 (19:12673711 C>T), RS1002678776 (19:12668191 C>T), RS1002879179 (19:12672437 C>G,T), RS1003077262 (19:12676150 G>A), RS1003238860 (19:12665468 G>A)

Disease associations

OMIM: gene MIM:616850 | disease phenotypes: MIM:618480, MIM:607748, MIM:621016

GenCC curated gene-disease

Mondo (4): neurodevelopmental disorder with seizures and speech and walking impairment (MONDO:0032775), hypercholanemia, familial (MONDO:0100327), neurodevelopmental disorder with variable familial hypercholanemia (MONDO:0975877), attention deficit-hyperactivity disorder (MONDO:0007743)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tunicamycin	increases expression	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
ICG 001	increases expression	1
bisphenol S	decreases methylation	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	decreases expression	1
Atrazine	increases expression	1
Vehicle Emissions	increases expression, increases abundance	1
Dexamethasone	affects cotreatment, increases expression	1
Diazinon	increases methylation	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1
Smoke	decreases expression	1
Valproic Acid	increases methylation	1
1-Methyl-3-isobutylxanthine	increases expression, affects cotreatment	1
Sodium Selenite	decreases expression	1
Cadmium Chloride	decreases expression	1
Thapsigargin	increases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00152750	PHASE4	UNKNOWN	Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD
NCT00181571	PHASE4	COMPLETED	A Double-Blind Comparison of Concerta and Placebo in Adults With Attention Deficit Hyperactivity Disorder
NCT00181675	PHASE4	COMPLETED	A Double-Blind Comparison of Galantamine HBr and Placebo in Adults With Attention Deficit Hyperactivity Disorder
NCT00181714	PHASE4	COMPLETED	Prevention of Cigarette Smoking in Attention Deficit Hyperactivity Disorder (ADHD) Youth With Concerta
NCT00181948	PHASE4	COMPLETED	Strattera Treatment in Children With ADHD Who Have Poor Response to Stimulant Therapy
NCT00181987	PHASE4	COMPLETED	Concerta in the Treatment of ADHD in Youth and Adults With Bipolar Disorder
NCT00190736	PHASE4	COMPLETED	Efficacy and Safety of Once-Daily Atomoxetine Hydrochloride in Adults With ADHD Over an Extended Period of Time (6 Months)
NCT00190775	PHASE4	COMPLETED	A Randomized, Double-Blind Comparison of Placebo and Atomoxetine Hydrochloride Given Once a Day in Adults With Attention-Deficit/Hyperactivity Disorder (ADHD)
NCT00190879	PHASE4	COMPLETED	Placebo-Controlled Study of Atomoxetine Hydrochloride in the Treatment of Adults With ADHD and Comorbid Social Anxiety Disorder
NCT00190957	PHASE4	COMPLETED	Atomoxetine Treatment of Adults With ADHD and Comorbid Alcohol Abuse
NCT00191035	PHASE4	COMPLETED	Maintenance of Benefit With Atomoxetine Hydrochloride in Adolescents With ADHD
NCT00191048	PHASE4	COMPLETED	Treatment With Atomoxetine Hydrochloride in Children and Adolescents With ADHD
NCT00191633	PHASE4	COMPLETED	Study of Atomoxetine in Children With ADHD to Assess Symptomatic and Functional Outcomes
NCT00191906	PHASE4	COMPLETED	Comparison of Atomoxetine and Placebo in Children With Attention-Deficit/Hyperactivity Disorder (ADHD) and/or Reading Disorder (RD)
NCT00216918	PHASE4	COMPLETED	Neuropsychological Functioning in Children With Attention-Deficit/Hyperactivity Disorder.
NCT00221962	PHASE4	COMPLETED	Study of Aripiprazole (Abilify) in Children With ADHD (Attention Deficit Hyperactivity Disorder)
NCT00223561	PHASE4	COMPLETED	Methylphenidate and Driving Ability in Adult Patients With Attention-Deficit Hyperactivity Disorder
NCT00299234	PHASE4	TERMINATED	Atomoxetine for Children With Acquired Attentional Disorders Following Completion of Chemotherapy for ALL
NCT00302406	PHASE4	COMPLETED	Naturalistic Substitution of Concerta in Adult Subject With ADHD Receiving Immediate Release Methylphenidate
NCT00305370	PHASE4	COMPLETED	Aripiprazole Associated With Methylphenidate in Children and Adolescents With Bipolar Disorder and ADHD
NCT00381758	PHASE4	COMPLETED	The COMACS Study: A Comparison of Methylphenidates in an Analog Classroom Setting
NCT00406354	PHASE4	COMPLETED	Comparison of Atomoxetine Versus Placebo in Children and Adolescents With ADHD and Comorbid ODD in Germany
NCT00434213	PHASE4	COMPLETED	Characterization of Dermal Reactions in Pediatric Patients With ADHD Using DAYTRANA
NCT00468143	PHASE4	COMPLETED	A Within-Subject Cross-Over Comparison Between Immediate Release and Extended Release Adderall
NCT00471354	PHASE4	COMPLETED	A Study for Patients With Attention-Deficit/Hyperactivity Disorder Treated With Atomoxetine
NCT00483106	PHASE4	COMPLETED	Clinical and Pharmacogenetic Study of Attention Deficit With Hyperactivity Disorder (ADHD)
NCT00485849	PHASE4	COMPLETED	A Study of Atomoxetine for Attention Deficit and Hyperactive/Impulsive Behaviour Problems in Children With ASD
NCT00485875	PHASE4	COMPLETED	Safety and Efficacy of Switching From a Stimulant Medication to Atomoxetine in Children and Adolescents With ADHD
NCT00486122	PHASE4	COMPLETED	Evaluation of Continuous Symptom Treatment of ADHD
NCT00500071	PHASE4	COMPLETED	Dose-Optimization Study Evaluating the Efficacy, Safety and Tolerability of Vyvanse (Lisdexamfetamine Dimesylate) in Children Aged 6-12 Diagnosed With ADHD
NCT00506727	PHASE4	COMPLETED	Analog Classroom Study Comparison of ADDERALL XR With STRATTERA in Children Aged 6-12 With ADHD
NCT00510276	PHASE4	COMPLETED	Treatment of Attention-Deficit/Hyperactivity Disorder (ADHD) With Atomoxetine in Young Adults and Its Effects on Functional Outcomes
NCT00517504	PHASE4	COMPLETED	Methylphenidate Study in Young Children With Developmental Disorders
NCT00517647	PHASE4	COMPLETED	Atomoxetine Pilot Study in Preschool Children With ADHD
NCT00518232	PHASE4	COMPLETED	A Study to Determine Effective and Tolerable Titration Scheme for OROS-Methylphenidate in Children With Attention-deficit Hyperactivity Disorder
NCT00530257	PHASE4	COMPLETED	Study of the Effects of Osmotic-Release Oral System (OROS) Methylphenidate (Concerta) on Attention and Memory
NCT00536419	PHASE4	UNKNOWN	Impact of Attention Deficit/Hyperactivity Disorder and Substance Use Disorder on Motorcycle Traffic Accidents
NCT00546910	PHASE4	COMPLETED	Comparison of Atomoxetine Versus Placebo in Children With Attention-Deficit/Hyperactivity Disorder (ADHD)
NCT00552266	PHASE4	UNKNOWN	Methylphenidate in ADHD With Trichotillomania
NCT00564954	PHASE4	COMPLETED	A Study of Dex-methylphenidate Extended Release in Children (6-12 Years) With Attention-Deficit/Hyperactivity Disorder (ADHD)