CORO1B

Summary

CORO1B (coronin 1B, HGNC:2253) is a protein-coding gene on chromosome 11q13.2, encoding Coronin-1B (Q9BR76). Regulates leading edge dynamics and cell motility in fibroblasts.

Members of the coronin family, such as CORO1B, are WD repeat-containing actin-binding proteins that regulate cell motility (Cai et al., 2005 [PubMed 16027158]).

Source: NCBI Gene 57175 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 154 total
• MANE Select transcript: NM_020441

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2253
Approved symbol	CORO1B
Name	coronin 1B
Location	11q13.2
Locus type	gene with protein product
Status	Approved
Aliases	coronin-2
Ensembl gene	ENSG00000172725
Ensembl biotype	protein_coding
OMIM	609849
Entrez	57175

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 20 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000341356, ENST00000393893, ENST00000453768, ENST00000537042, ENST00000539724, ENST00000539970, ENST00000545016, ENST00000545736, ENST00000616321, ENST00000627576, ENST00000902765, ENST00000902766, ENST00000902767, ENST00000902768, ENST00000902769, ENST00000902770, ENST00000918382, ENST00000918383, ENST00000918384, ENST00000918385, ENST00000918386, ENST00000955902, ENST00000955903, ENST00000955904, ENST00000955905, ENST00000955906

RefSeq mRNA: 2 — MANE Select: NM_020441 NM_001018070, NM_020441

CCDS: CCDS8164

Canonical transcript exons

ENST00000341356 — 11 exons

Exon	Start	End
ENSE00001186331	67441125	67441244
ENSE00002210284	67435510	67438501
ENSE00003489905	67440335	67440439
ENSE00003491530	67439786	67439843
ENSE00003521913	67441966	67442088
ENSE00003538324	67438671	67438949
ENSE00003583520	67442428	67442630
ENSE00003611075	67440118	67440263
ENSE00003727594	67441333	67441514
ENSE00003736176	67441733	67441862
ENSE00003850037	67443404	67443476

Expression profiles

Bgee: expression breadth ubiquitous, 235 present calls, max score 98.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 60.9920 / max 375.7081, expressed in 1814 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120931	55.6528	1792
120927	2.3185	110
120930	1.4529	979
120932	1.3167	887
120928	0.2511	51

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	98.42	gold quality
small intestine Peyer’s patch	UBERON:0003454	97.30	gold quality
granulocyte	CL:0000094	97.26	gold quality
metanephros cortex	UBERON:0010533	97.26	gold quality
right lobe of thyroid gland	UBERON:0001119	97.19	gold quality
body of stomach	UBERON:0001161	97.14	gold quality
transverse colon	UBERON:0001157	97.12	gold quality
minor salivary gland	UBERON:0001830	96.88	gold quality
lower esophagus mucosa	UBERON:0035834	96.76	gold quality
right uterine tube	UBERON:0001302	96.74	gold quality
gall bladder	UBERON:0002110	96.74	gold quality
left lobe of thyroid gland	UBERON:0001120	96.56	gold quality
ileal mucosa	UBERON:0000331	96.39	gold quality
monocyte	CL:0000576	96.34	gold quality
spleen	UBERON:0002106	96.32	gold quality
right coronary artery	UBERON:0001625	96.25	gold quality
right adrenal gland cortex	UBERON:0035827	96.23	gold quality
body of uterus	UBERON:0009853	96.21	gold quality
left uterine tube	UBERON:0001303	96.19	gold quality
mononuclear cell	CL:0000842	96.12	gold quality
right adrenal gland	UBERON:0001233	96.12	gold quality
leukocyte	CL:0000738	95.93	gold quality
small intestine	UBERON:0002108	95.80	gold quality
endocervix	UBERON:0000458	95.78	gold quality
left coronary artery	UBERON:0001626	95.75	gold quality
popliteal artery	UBERON:0002250	95.74	gold quality
tibial artery	UBERON:0007610	95.73	gold quality
left adrenal gland cortex	UBERON:0035825	95.71	gold quality
left adrenal gland	UBERON:0001234	95.69	gold quality
saliva-secreting gland	UBERON:0001044	95.61	gold quality

Single-cell (SCXA)

Detected in 24 experiment(s), a significant marker in 19.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	959.83
E-MTAB-10553	yes	726.07
E-HCAD-1	yes	120.45
E-MTAB-6701	yes	116.56
E-HCAD-4	yes	95.79
E-MTAB-9221	yes	52.19
E-MTAB-8142	yes	47.57
E-MTAB-10287	yes	42.56
E-MTAB-8410	yes	42.34
E-CURD-112	yes	37.29
E-HCAD-9	yes	34.06
E-HCAD-10	yes	33.53
E-GEOD-135922	yes	31.35
E-HCAD-6	yes	28.13
E-CURD-46	yes	26.61

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ANKRD11, TP53, WT1

miRNA regulators (miRDB)

16 targeting CORO1B, 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-4481	100.00	66.42	1669
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-873-5P	98.84	66.90	1348
HSA-MIR-4486	96.96	60.61	931
HSA-MIR-151A-5P	95.79	68.73	162
HSA-MIR-151B	95.79	68.73	162
HSA-MIR-6889-5P	90.26	64.13	291
HSA-MIR-6777-5P	88.76	62.64	222
HSA-MIR-658	88.20	67.03	178

Literature-anchored findings (GeneRIF, showing 11)

• Coronin 1B regulates leading edge dynamics and controls cell motility and interactions with the actin-related protein (Arp)2/3 complex (PMID:16027158)
• Study concludes that Coronin 1B’s coordination of filament formation by Arp2/3 complex and filament turnover by Cofilin is required for effective lamellipodial protrusion and cell migration. (PMID:17350576)
• analysis of the mechanism for negatively regulating Rho-kinase (ROCK) signaling through Coronin1B protein in neuregulin 1 (NRG-1)-induced tumor cell motility (PMID:22563075)
• Coronin 1B regulates S1P-induced human lung endothelial cell chemotaxis. (PMID:23667561)
• When cells undergo apoptosis in an epithelial monolayer, coronin 1B is recruited to the junctional cortex at apoptotic/neighbor cell interface in an E-cadherin-dependent fashion to support actin architectural reorganization, contractility, and extrusion. (PMID:27046832)
• VEGF-activated p38alpha phosphorylates coronin 1B at Ser2 and activates the Arp2/3 complex by liberating it from coronin 1B. (PMID:27592029)
• The loss of junctional NMIIA, upon Coronin 1B knockdown, perturbed RhoA signaling. (PMID:27650961)
• Coronin 1B constitutively binds to TGF beta receptor I in vascular smooth muscle cells. (PMID:28625921)
• Coronin 1B regulates the TNFalpha-induced apoptosis of HUVECs by mediating the interaction between TRADD and FADD. (PMID:32303335)
• Smoothelin-like 2 Inhibits Coronin-1B to Stabilize the Apical Actin Cortex during Epithelial Morphogenesis. (PMID:33275893)
• In rabbits, cholinergic stimulation increases the phosphorylation of coronin 1B in gastric mucosal cells (PMID:9915840)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	coro1b	ENSDARG00000008660
mus_musculus	Coro1b	ENSMUSG00000024835
rattus_norvegicus	Coro1b	ENSRNOG00000021828
drosophila_melanogaster	coro	FBGN0265935
caenorhabditis_elegans		WBGENE00000768

Paralogs (6): CORO1A (ENSG00000102879), CORO2B (ENSG00000103647), CORO2A (ENSG00000106789), CORO1C (ENSG00000110880), CORO6 (ENSG00000167549), CORO7 (ENSG00000262246)

Protein

Protein identifiers

Coronin-1B — Q9BR76 (reviewed: Q9BR76)

Alternative names: Coronin-2

All UniProt accessions (4): A0A087WW53, F5H0D2, F5H390, Q9BR76

UniProt curated annotations — full annotation on UniProt →

Function. Regulates leading edge dynamics and cell motility in fibroblasts. May be involved in cytokinesis and signal transduction.

Subunit / interactions. Forms homooligomers, but does not form complexes with the other coronins. Interacts with Arp2/3 complex components, including ACTR2, ARPC1B and ARPC2. Binds actin.

Subcellular location. Cytoplasm. Cytoskeleton. Stress fiber.

Post-translational modifications. Phosphorylation by PKC on Ser-2 regulates the interaction with the Arp2/3 complex and cell motility in fibroblasts. Phosphorylation does not seem to affect subcellular location.

Similarity. Belongs to the WD repeat coronin family.

RefSeq proteins (2): NP_001018080, NP_065174* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015048	DUF1899	Domain
IPR015505	Coronin	Family
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily

Pfam: PF00400, PF08953, PF16300

UniProt features (15 total): repeat 6, sequence variant 2, mutagenesis site 2, chain 1, modified residue 1, region of interest 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
9QF2	ELECTRON MICROSCOPY	2.42
9QEY	ELECTRON MICROSCOPY	2.74
9QFB	ELECTRON MICROSCOPY	2.74
9QFE	ELECTRON MICROSCOPY	3.12
9QFG	ELECTRON MICROSCOPY	3.49
9QFK	ELECTRON MICROSCOPY	3.99

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BR76-F1	90.18	0.82

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): 2

Mutagenesis-validated functional residues (2):

Position	Phenotype
2	stronger interaction with the arp2/3 complex. does not affect homo-oligomerization. enhanced ruffling in response to pho
2	weaker interaction with the arp2/3 complex. does not affect homo-oligomerization. attenuated pma-induced ruffling and sl

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 192 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GGGACCA_MIR133A_MIR133B, ELVIDGE_HYPOXIA_DN, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_CELL_CHEMOTAXIS, GOBP_REGULATION_OF_ACTIN_NUCLEATION, chr11q13, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_WOUND_HEALING, GOBP_TAXIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_NEGATIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_MIGRATION, GOBP_ACTIN_FILAMENT_ORGANIZATION

GO Biological Process (15): actin filament organization (GO:0007015), cell migration (GO:0016477), actin cytoskeleton organization (GO:0030036), ruffle organization (GO:0031529), regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315), negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316), endothelial cell chemotaxis (GO:0035767), cellular response to platelet-derived growth factor stimulus (GO:0036120), wound healing (GO:0042060), actin filament bundle assembly (GO:0051017), negative regulation of smooth muscle cell chemotaxis (GO:0071672), actin filament branching (GO:0090135), protein localization to cell leading edge (GO:1902463), positive regulation of lamellipodium morphogenesis (GO:2000394), negative regulation of cellular component organization (GO:0051129)

GO Molecular Function (6): identical protein binding (GO:0042802), cadherin binding (GO:0045296), actin filament binding (GO:0051015), Arp2/3 complex binding (GO:0071933), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (14): stress fiber (GO:0001725), cytoplasm (GO:0005737), cytosol (GO:0005829), actin filament (GO:0005884), plasma membrane (GO:0005886), focal adhesion (GO:0005925), lamellipodium (GO:0030027), cell leading edge (GO:0031252), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), cell periphery (GO:0071944), glutamatergic synapse (GO:0098978), cytoskeleton (GO:0005856), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
Arp2/3 complex-mediated actin nucleation	2
protein-containing complex binding	2
cytoplasm	2
actin cytoskeleton organization	1
supramolecular fiber organization	1
cell motility	1
cytoskeleton organization	1
actin filament-based process	1
plasma membrane bounded cell projection organization	1
regulation of actin nucleation	1
regulation of Arp2/3 complex-mediated actin nucleation	1
negative regulation of actin nucleation	1
endothelial cell migration	1
cell chemotaxis	1
response to platelet-derived growth factor	1
cellular response to growth factor stimulus	1
response to wounding	1
tissue regeneration	1
cellular component assembly	1
actin filament bundle organization	1
negative regulation of smooth muscle cell migration	1
negative regulation of chemotaxis	1
smooth muscle cell chemotaxis	1
regulation of smooth muscle cell chemotaxis	1
actin filament organization	1
intracellular protein localization	1
positive regulation of developmental process	1
lamellipodium morphogenesis	1
positive regulation of lamellipodium organization	1
regulation of lamellipodium morphogenesis	1
cellular component organization	1
negative regulation of cellular process	1
regulation of cellular component organization	1
protein binding	1
cell adhesion molecule binding	1
actin binding	1
cytoskeletal protein binding	1
binding	1
actomyosin	1

Protein interactions and networks

STRING

2406 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CORO1B	JAG2	Q9Y219	730
CORO1B	HCLS1	P14317	681
CORO1B	CTTN	Q14247	679
CORO1B	ACTR2	P61160	651
CORO1B	RAB13	P51153	589
CORO1B	VASP	P50552	583
CORO1B	CFL2	Q9Y281	568
CORO1B	ACTG1	P02571	562
CORO1B	CFL1	P23528	545
CORO1B	FKBPL	Q9UIM3	490
CORO1B	WASF2	Q9Y6W5	473
CORO1B	ARPC3	O15145	471
CORO1B	WIPF1	O43516	445
CORO1B	WDR1	O75083	440
CORO1B	CORO1C	Q9ULV4	435

IntAct

113 interactions, top by confidence:

A	B	Type	Score
IFT57	CORO1A	psi-mi:“MI:0914”(association)	0.790
CORO1B	CORO1C	psi-mi:“MI:0915”(physical association)	0.740
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
SSH1	CORO1B	psi-mi:“MI:0203”(dephosphorylation reaction)	0.580
LHX4	CORO1B	psi-mi:“MI:0915”(physical association)	0.560
ATF3	MYL6B	psi-mi:“MI:0914”(association)	0.530
CEP170	DAPK3	psi-mi:“MI:0914”(association)	0.530
CORO1C	GTPBP1	psi-mi:“MI:0914”(association)	0.530
CORO1A	VARS1	psi-mi:“MI:0914”(association)	0.530
CORO1B	TERF1	psi-mi:“MI:0915”(physical association)	0.510
CORO1B	ARPC2	psi-mi:“MI:0914”(association)	0.500
ARPC2	CORO1B	psi-mi:“MI:0915”(physical association)	0.500
CORO1B	SRSF12	psi-mi:“MI:0915”(physical association)	0.400
CYP1A2	CORO1B	psi-mi:“MI:0915”(physical association)	0.400
IKBKE	CORO1B	psi-mi:“MI:0915”(physical association)	0.400
PLEKHG7	CORO1B	psi-mi:“MI:0915”(physical association)	0.400
	GNAT3	psi-mi:“MI:0915”(physical association)	0.400
CORO1B	tyeA	psi-mi:“MI:0915”(physical association)	0.370
CORO1B	FXR1	psi-mi:“MI:0915”(physical association)	0.370
CORO1B	KPNA2	psi-mi:“MI:0915”(physical association)	0.370
CORO1B	POLR1C	psi-mi:“MI:0915”(physical association)	0.370
CORO1B		psi-mi:“MI:0915”(physical association)	0.370
ANLN	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO18A	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO19	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
FLNA	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (239): CORO1B (Affinity Capture-MS), CORO1B (Affinity Capture-MS), CORO1B (Affinity Capture-MS), CORO1B (Affinity Capture-MS), CORO1B (Affinity Capture-MS), ACTB (Co-fractionation), ACTG1 (Co-fractionation), CORO1B (Co-fractionation), CORO1B (Co-fractionation), CORO1B (Co-fractionation), CORO1B (Co-fractionation), CORO1B (Co-fractionation), CORO1B (Co-fractionation), CORO1B (Co-fractionation), CORO1B (Co-fractionation)

ESM2 similar proteins: A1L3L9, A2X2K3, A5D7H2, B6VA23, F1QH17, P36876, P36877, P50410, P54614, P56932, P58405, P63150, P63151, P97888, Q00005, Q00006, Q0D2F4, Q0E2P1, Q13033, Q29090, Q38821, Q39247, Q4R7Z4, Q4R8L3, Q5E9Q7, Q5NVK4, Q5R4A2, Q5T5C0, Q5Z8Z7, Q5ZHN3, Q5ZIY5, Q66LE6, Q6AY57, Q6DIY3, Q6NY64, Q6P1F6, Q6QEF8, Q6ZWR4, Q7ZWU5, Q7ZX64

Diamond homologs: A8WGE3, B0R0D7, O13923, O89046, O89053, P27133, P31146, P57737, Q06440, Q21624, Q32LP9, Q4R4J2, Q54JS5, Q5NVK4, Q6DJD8, Q6QEF8, Q7K0L4, Q8BH44, Q8C0P5, Q91ZN1, Q920J3, Q920M5, Q92176, Q92828, Q9BR76, Q9ULV4, Q9UQ03, Q9WUM3, Q9WUM4, Q9XS70, A6ZPA9, A7TMF9, B3RNR8, B6QC56, B8N9H4, C5FWH1, C7Z6H2, F1LTR1, G0S8H7, O13637

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
PRKCA	down-regulates	CORO1B	phosphorylation
SSH1	up-regulates	CORO1B	dephosphorylation
SSH1	“up-regulates activity”	CORO1B	dephosphorylation
ANKRD11	“up-regulates quantity by expression”	CORO1B	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 123 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
RHO GTPases activate PAKs	5	33.6×	2e-04
RHO GTPases activate PKNs	5	19.6×	1e-03
Signaling by ALK fusions and activated point mutants	6	11.1×	2e-03
Diseases of signal transduction by growth factor receptors and second messengers	8	5.6×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	131
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2158 predictions. Top by Δscore:

Variant	Effect	Δscore
11:67438497:GCCTC:G	acceptor_gain	1.0000
11:67438498:CCTCC:C	acceptor_gain	1.0000
11:67438499:CTC:C	acceptor_gain	1.0000
11:67438501:CCTGT:C	acceptor_loss	1.0000
11:67438502:C:CG	acceptor_loss	1.0000
11:67438503:T:C	acceptor_loss	1.0000
11:67438511:CA:C	acceptor_gain	1.0000
11:67438512:A:C	acceptor_gain	1.0000
11:67438666:CATA:C	donor_loss	1.0000
11:67438667:ATAC:A	donor_loss	1.0000
11:67438669:A:AT	donor_loss	1.0000
11:67438669:AC:A	donor_gain	1.0000
11:67438669:ACC:A	donor_gain	1.0000
11:67438670:C:CA	donor_loss	1.0000
11:67438670:CC:C	donor_gain	1.0000
11:67438670:CCC:C	donor_gain	1.0000
11:67438945:TCCGA:T	acceptor_gain	1.0000
11:67438946:CCGA:C	acceptor_gain	1.0000
11:67438946:CCGAC:C	acceptor_gain	1.0000
11:67438947:CGA:C	acceptor_gain	1.0000
11:67438947:CGAC:C	acceptor_gain	1.0000
11:67438950:C:CC	acceptor_gain	1.0000
11:67438955:C:CT	acceptor_gain	1.0000
11:67438956:A:T	acceptor_gain	1.0000
11:67438963:C:CT	acceptor_gain	1.0000
11:67439844:CTGGG:C	acceptor_loss	1.0000
11:67439845:T:A	acceptor_loss	1.0000
11:67440113:CTTAC:C	donor_loss	1.0000
11:67440114:TTACC:T	donor_loss	1.0000
11:67440115:TACCG:T	donor_loss	1.0000

AlphaMissense

3199 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:67438925:A:C	Y364D	1.000
11:67439789:T:A	R354S	1.000
11:67439789:T:G	R354S	1.000
11:67439790:C:A	R354I	1.000
11:67439790:C:G	R354T	1.000
11:67441164:G:C	F239L	1.000
11:67441164:G:T	F239L	1.000
11:67441166:A:G	F239L	1.000
11:67441990:G:C	S100R	1.000
11:67441990:G:T	S100R	1.000
11:67441992:T:G	S100R	1.000
11:67441994:G:T	A99D	1.000
11:67442036:A:T	V85D	1.000
11:67442589:G:C	H14D	1.000
11:67438927:A:G	L363P	0.999
11:67438927:A:T	L363Q	0.999
11:67438938:G:C	F359L	0.999
11:67438938:G:T	F359L	0.999
11:67438939:A:G	F359S	0.999
11:67438940:A:G	F359L	0.999
11:67439786:C:A	K355N	0.999
11:67439786:C:G	K355N	0.999
11:67439788:T:C	K355E	0.999
11:67439791:T:C	R354G	0.999
11:67439796:A:T	V352E	0.999
11:67439802:A:T	M350K	0.999
11:67439818:A:G	C345R	0.999
11:67439832:A:G	L340P	0.999
11:67439834:T:A	K339N	0.999
11:67439834:T:G	K339N	0.999

dbSNP variants (sampled 300 via entrez): RS1000306398 (11:67435820 ACTCAGCAGGGC>A), RS1000694334 (11:67444556 C>T), RS1001235173 (11:67438919 C>A,G,T), RS1001436161 (11:67437788 C>G,T), RS1001510902 (11:67437490 C>T), RS1001817619 (11:67444917 T>C), RS1001846227 (11:67436570 ACAGCTG>A), RS1001882816 (11:67441684 T>C,G), RS1001944128 (11:67442647 C>A,G,T), RS1002105818 (11:67445122 C>A,T), RS1002413848 (11:67439405 C>T), RS1002674013 (11:67441787 G>A), RS1003028835 (11:67443592 G>A,C), RS1003132261 (11:67437156 G>A,T), RS1003260668 (11:67436866 T>G)

Disease associations

OMIM: gene MIM:609849 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003810_1	Non-response to citalopram or escitalopram and depression	1.000000e-06
GCST010002_241	Refractive error	3.000000e-13
GCST010242_187	HDL cholesterol levels	5.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases expression, decreases methylation	4
bisphenol A	increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
GSK-J4	decreases expression	1
bisphenol F	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
tetrabromobisphenol A	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
calfactant	increases expression, affects cotreatment	1
nutlin 3	affects cotreatment, increases secretion	1
abrine	increases expression	1
bisphenol S	affects expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Benztropine	decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Clozapine	decreases expression	1
Coumestrol	affects cotreatment, decreases expression	1
Dactinomycin	affects cotreatment, increases secretion	1
Ivermectin	decreases expression	1
Ribonucleotides	affects binding	1
Silicon Dioxide	decreases expression	1

Clinical trials (associated diseases)

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