COBL

Summary

COBL (cordon-bleu WH2 repeat protein, HGNC:22199) is a protein-coding gene on chromosome 7p12.1, encoding Protein cordon-bleu (O75128). Plays an important role in the reorganization of the actin cytoskeleton.

This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role in maintaining intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudogene of this gene is located on chromosome X.

Source: NCBI Gene 23242 — RefSeq curated summary.

At a glance

• GWAS associations: 21
• Clinical variants (ClinVar): 278 total — 1 pathogenic
• MANE Select transcript: NM_015198

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22199
Approved symbol	COBL
Name	cordon-bleu WH2 repeat protein
Location	7p12.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0633
Ensembl gene	ENSG00000106078
Ensembl biotype	protein_coding
OMIM	610317
Entrez	23242

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 24 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000265136, ENST00000395540, ENST00000395542, ENST00000431948, ENST00000441453, ENST00000445054, ENST00000449281, ENST00000452534, ENST00000462395, ENST00000632460, ENST00000648294, ENST00000902594, ENST00000902595, ENST00000902596, ENST00000902597, ENST00000902598, ENST00000902599, ENST00000902600, ENST00000902601, ENST00000902602, ENST00000902603, ENST00000902604, ENST00000961289, ENST00000961290, ENST00000961291, ENST00000961292

RefSeq mRNA: 8 — MANE Select: NM_015198 NM_001287436, NM_001287438, NM_001346441, NM_001346442, NM_001346443, NM_001346444, NM_001410881, NM_015198

CCDS: CCDS34637, CCDS75601, CCDS75602, CCDS87505, CCDS94104

Canonical transcript exons

ENST00000265136 — 13 exons

Exon	Start	End
ENSE00000683280	51030812	51030909
ENSE00000683291	51193379	51193589
ENSE00000886189	51043383	51043692
ENSE00000886190	51085166	51085304
ENSE00000886191	51136158	51136331
ENSE00000886192	51184102	51184199
ENSE00001345095	51190850	51191078
ENSE00001796242	51016212	51017568
ENSE00001957186	51316593	51316809
ENSE00003458933	51027712	51029591
ENSE00003522896	51026546	51026665
ENSE00003528724	51219741	51219944
ENSE00003542692	51025109	51025372

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 97.52.

FANTOM5 (CAGE): breadth broad, TPM avg 4.8676 / max 157.8898, expressed in 596 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84118	4.3719	582
84117	0.1888	90
84119	0.1627	97
84120	0.0894	43
84121	0.0547	22

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
inferior vagus X ganglion	UBERON:0005363	97.52	gold quality
parotid gland	UBERON:0001831	97.47	gold quality
lateral globus pallidus	UBERON:0002476	97.32	gold quality
Brodmann (1909) area 46	UBERON:0006483	96.87	gold quality
gastrocnemius	UBERON:0001388	96.68	gold quality
middle frontal gyrus	UBERON:0002702	96.28	gold quality
postcentral gyrus	UBERON:0002581	96.25	gold quality
parietal lobe	UBERON:0001872	96.24	gold quality
orbitofrontal cortex	UBERON:0004167	96.21	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.06	gold quality
globus pallidus	UBERON:0001875	96.05	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.87	gold quality
subthalamic nucleus	UBERON:0001906	95.71	gold quality
medial globus pallidus	UBERON:0002477	95.63	gold quality
amygdala	UBERON:0001876	95.50	gold quality
temporal lobe	UBERON:0001871	95.46	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.45	gold quality
superior frontal gyrus	UBERON:0002661	95.44	gold quality
corpus callosum	UBERON:0002336	95.39	gold quality
entorhinal cortex	UBERON:0002728	95.36	gold quality
putamen	UBERON:0001874	95.29	gold quality
muscle of leg	UBERON:0001383	95.17	gold quality
medulla oblongata	UBERON:0001896	95.14	gold quality
frontal pole	UBERON:0002795	95.12	gold quality
Ammon’s horn	UBERON:0001954	95.00	gold quality
CA1 field of hippocampus	UBERON:0003881	94.99	gold quality
substantia nigra	UBERON:0002038	94.98	gold quality
midbrain	UBERON:0001891	94.94	gold quality
spinal cord	UBERON:0002240	94.87	gold quality
Brodmann (1909) area 10	UBERON:0013541	94.81	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.25
E-CURD-10	no	22.06

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

74 targeting COBL, 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-6870-5P	99.99	68.55	2115
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-891B	99.59	69.81	1083
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-5007-3P	99.51	68.14	1242
HSA-MIR-154-3P	99.50	70.05	831
HSA-MIR-487A-3P	99.50	69.95	840
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-3915	99.45	68.49	1905
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-12113	99.32	67.54	1072
HSA-MIR-4641	99.28	66.64	744
HSA-MIR-410-3P	99.27	69.98	2457

Literature-anchored findings (GeneRIF, showing 6)

• Cordon-Bleu works as a dynamizer of actin assembly by combining many properties of profilin with weak filament nucleating and powerful filament severing activities and sequestration of ADP-actin, which generate oscillatory polymerization kinetics. (PMID:21816349)
• Filament severing displayed the greatest stringency and was abolished in all mutated forms of Cobl-KAB. (PMID:24415668)
• Ca2+/Calmodulin modulates Cobl’s actin binding properties and furthermore promotes Cobl’s previously identified interactions with the membrane-shaping F-BAR protein syndapin I, which accumulated with Cobl at nascent dendritic protrusion sites. (PMID:26334624)
• Data show that six patients had large interstitial deletions starting within intronic regions of COBL at diagnosis, which is ~611 Kb downstream of IKZF1, suggesting that COBL is a hotspot for IKZF1 deletion (DeltaIKZF1). (PMID:27419633)
• Two single-nucleotide polymorphisms at novel loci, rs112404845 (P = 3.8 x 10-8), upstream of COBL, and rs16961023 (P = 4.6 x 10-8), downstream of SLC10A2, obtained genome-wide significant evidence of association with the posterior liability of late-onset Alzheimer’s disease in African Americans. (PMID:27770636)
• COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children. (PMID:36834493)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cobl	ENSDARG00000091006
mus_musculus	Cobl	ENSMUSG00000020173
rattus_norvegicus	Cobl	ENSRNOG00000004281

Paralogs (1): COBLL1 (ENSG00000082438)

Protein

Protein identifiers

Protein cordon-bleu — O75128 (reviewed: O75128)

All UniProt accessions (6): O75128, A0A0J9YWK3, A0A3B3IU00, C9J9X1, H7C1N2, J3KR05

UniProt curated annotations — full annotation on UniProt →

Function. Plays an important role in the reorganization of the actin cytoskeleton. Regulates neuron morphogenesis and increases branching of axons and dendrites. Regulates dendrite branching in Purkinje cells. Binds to and sequesters actin monomers (G actin). Nucleates actin polymerization by assembling three actin monomers in cross-filament orientation and thereby promotes growth of actin filaments at the barbed end. Can also mediate actin depolymerization at barbed ends and severing of actin filaments. Promotes formation of cell ruffles.

Subunit / interactions. Identified in a complex composed of ACTA1, COBL, GSN AND TMSB4X. Interacts (via WH2 domains) with actin monomers. Interacts with both PACSIN1 and DBNL. Identified in a complex composed of COBL, PACSIN1 and WASL. Interacts with PACSIN1, PACSIN2 and PACSIN3.

Subcellular location. Cell membrane. Cytoplasm. Cytoskeleton. Cell projection. Ruffle.

Isoforms (7)

UniProt ID	Names	Canonical?
O75128-1	1	yes
O75128-2	2
O75128-3	3
O75128-4	4
O75128-5	5
O75128-6	6
O75128-7	7

RefSeq proteins (8): NP_001274365, NP_001274367, NP_001333370, NP_001333371, NP_001333372, NP_001333373, NP_001397810, NP_056013* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003124	WH2_dom	Domain
IPR019025	Cordon-bleu_ubiquitin_domain	Domain
IPR039895	COBL-like	Family

Pfam: PF02205, PF09469

UniProt features (64 total): modified residue 15, compositionally biased region 14, region of interest 9, splice variant 9, sequence variant 6, domain 3, sequence conflict 3, short sequence motif 2, helix 2, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4PL8	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75128-F1	50.88	0.09

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 (15): 47, 212, 235, 269, 321, 324, 347, 447, 574, 578, 741, 815, 962, 1192, 1227

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 245 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_DENDRITE_DEVELOPMENT, RNGTGGGC_UNKNOWN, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_AXIS_SPECIFICATION, GOBP_EMBRYONIC_AXIS_SPECIFICATION, JAEGER_METASTASIS_DN, GCANCTGNY_MYOD_Q6, GOBP_GROWTH, GOBP_REGULATION_OF_RUFFLE_ASSEMBLY, GOBP_NEUROGENESIS, GOBP_NEURAL_TUBE_DEVELOPMENT, LUCAS_HNF4A_TARGETS_UP

GO Biological Process (13): embryonic axis specification (GO:0000578), somite specification (GO:0001757), neural tube closure (GO:0001843), liver development (GO:0001889), actin filament polymerization (GO:0030041), notochord development (GO:0030903), floor plate development (GO:0033504), digestive tract development (GO:0048565), collateral sprouting in absence of injury (GO:0048669), actin filament network formation (GO:0051639), positive regulation of dendrite development (GO:1900006), positive regulation of ruffle assembly (GO:1900029), actin cytoskeleton organization (GO:0030036)

GO Molecular Function (3): actin monomer binding (GO:0003785), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (15): ruffle (GO:0001726), actin filament (GO:0005884), plasma membrane (GO:0005886), cell cortex (GO:0005938), membrane (GO:0016020), axon (GO:0030424), dendrite (GO:0030425), neuronal cell body (GO:0043025), dendritic growth cone (GO:0044294), axonal growth cone (GO:0044295), perinuclear region of cytoplasm (GO:0048471), terminal web (GO:1990357), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
embryonic pattern specification	2
cell periphery	2
cytoplasm	2
neuron projection	2
growth cone	2
axis specification	1
somitogenesis	1
segment specification	1
primary neural tube formation	1
tube closure	1
gland development	1
hepaticobiliary system development	1
actin polymerization or depolymerization	1
protein polymerization	1
embryonic organ development	1
neural tube development	1
anatomical structure development	1
tube development	1
digestive system development	1
collateral sprouting	1
actin filament organization	1
positive regulation of neuron projection development	1
dendrite development	1
regulation of dendrite development	1
positive regulation of developmental process	1
ruffle assembly	1
positive regulation of plasma membrane bounded cell projection assembly	1
regulation of ruffle assembly	1
cytoskeleton organization	1
actin filament-based process	1
actin binding	1
cytoskeletal protein binding	1
binding	1
cell leading edge	1
plasma membrane bounded cell projection	1
actin cytoskeleton	1
polymeric cytoskeletal fiber	1
membrane	1
dendritic tree	1

Protein interactions and networks

STRING

1236 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COBL	ITPRID2	P28290	863
COBL	GRB10	Q13322	815
COBL	VANGL2	Q9ULK5	780
COBL	WAS	P42768	726
COBL	PPP4R1	Q8TF05	638
COBL	LMOD2	Q6P5Q4	599
COBL	JMY	Q8N9B5	593
COBL	LMOD3	Q0VAK6	578
COBL	LMOD1	P29536	531
COBL	FIGNL1	Q6PIW4	530
COBL	IGFN1	Q86VF2	528
COBL	COPG2	Q9UBF2	502
COBL	PFN4	Q8NHR9	480
COBL	DBNL	P84070	468
COBL	PFN3	P60673	462

IntAct

83 interactions, top by confidence:

A	B	Type	Score
PACSIN1	COBL	psi-mi:“MI:0914”(association)	0.750
COBL	PACSIN2	psi-mi:“MI:0915”(physical association)	0.740
PACSIN2	COBL	psi-mi:“MI:0914”(association)	0.740
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
COBL	ALAS1	psi-mi:“MI:0915”(physical association)	0.560
PACSIN3	COBL	psi-mi:“MI:0914”(association)	0.530
COBL	NLGN3	psi-mi:“MI:0915”(physical association)	0.370
Ppp1cb	MYO1C	psi-mi:“MI:0914”(association)	0.350
MYH9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
ANLN	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Flot1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Flot2	ACTG1	psi-mi:“MI:0914”(association)	0.350
MYO18A	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO1C	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO19	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
EP300	COBL	psi-mi:“MI:0914”(association)	0.350
FLNA	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Myh10	LMO7	psi-mi:“MI:0914”(association)	0.350
Actb		psi-mi:“MI:0914”(association)	0.350
Flnb	RPL22	psi-mi:“MI:0914”(association)	0.350
Lima1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
LIMA1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Calml3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Tmod3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Tpm1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Coro1c	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
DBN1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (120): COBL (Affinity Capture-MS), COBL (Affinity Capture-MS), COBL (Affinity Capture-MS), COBL (Affinity Capture-MS), COBL (Affinity Capture-MS), COBL (Affinity Capture-MS), COBL (Affinity Capture-MS), COBL (Affinity Capture-MS), COBL (Affinity Capture-MS), COBL (Affinity Capture-MS), COBL (Affinity Capture-MS), COBL (Affinity Capture-MS), COBL (Affinity Capture-MS), COBL (Affinity Capture-MS), COBL (Affinity Capture-MS)

ESM2 similar proteins: A0A8I5ZM56, A2AG50, A2AI08, A2AJI0, A5D7K1, D4A4L4, E1C2Q8, F1LR10, O00515, O14529, O75128, O88573, O88735, P51825, P57016, Q14244, Q32LQ1, Q3KQU3, Q3U2K0, Q5JTD0, Q5NBX1, Q5PR69, Q5R7F9, Q5XHX2, Q5ZIA2, Q5ZJJ1, Q68DK7, Q6IPM2, Q6NV74, Q6NZF1, Q6PDH0, Q6PDM1, Q6PG95, Q6ZU35, Q86UU1, Q8CCJ4, Q8K124, Q8N7J2, Q8TD55, Q96PV7

Diamond homologs: D3ZUI5, O75128, Q3UMF0, Q53SF7, Q5NBX1, E7F568

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 83 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 IQGAPs	6	38.5×	9e-07
RHO GTPases activate PKNs	6	35.2×	1e-06
Parasite infection	5	32.0×	1e-05
Leishmania phagocytosis	5	32.0×	1e-05
Sensory processing of sound	5	28.6×	2e-05
Fcgamma receptor (FCGR) dependent phagocytosis	5	25.8×	3e-05
Translocation of SLC2A4 (GLUT4) to the plasma membrane	8	22.9×	3e-07
FCGR3A-mediated phagocytosis	6	20.8×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
actin filament organization	9	15.9×	4e-06
cytoskeleton organization	5	9.9×	8e-03
actin cytoskeleton organization	8	9.4×	5e-04
intracellular protein localization	6	9.4×	4e-03
endocytosis	6	8.5×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	219
Likely benign	24
Benign	7

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	Pathogenic

SpliceAI

4478 predictions. Top by Δscore:

Variant	Effect	Δscore
7:51029587:CATTT:C	acceptor_gain	1.0000
7:51029589:TTT:T	acceptor_gain	1.0000
7:51029592:C:CC	acceptor_gain	1.0000
7:51030808:TTA:T	donor_loss	1.0000
7:51030809:TA:T	donor_loss	1.0000
7:51030810:A:AC	donor_gain	1.0000
7:51030810:ACCTT:A	donor_gain	1.0000
7:51030811:C:CC	donor_gain	1.0000
7:51030811:CCTT:C	donor_gain	1.0000
7:51030811:CCTTC:C	donor_gain	1.0000
7:51030905:CAGTT:C	acceptor_gain	1.0000
7:51030906:AGTT:A	acceptor_gain	1.0000
7:51030907:GTT:G	acceptor_gain	1.0000
7:51030908:TT:T	acceptor_gain	1.0000
7:51030909:TC:T	acceptor_loss	1.0000
7:51030910:C:CC	acceptor_gain	1.0000
7:51030910:C:T	acceptor_loss	1.0000
7:51030921:C:CT	acceptor_gain	1.0000
7:51043693:C:CC	acceptor_gain	1.0000
7:51085160:ACTC:A	donor_loss	1.0000
7:51085162:T:TC	donor_loss	1.0000
7:51085163:CACC:C	donor_loss	1.0000
7:51085164:A:AC	donor_gain	1.0000
7:51085164:AC:A	donor_gain	1.0000
7:51085164:ACC:A	donor_gain	1.0000
7:51085165:C:CC	donor_gain	1.0000
7:51085165:CC:C	donor_gain	1.0000
7:51085165:CCC:C	donor_gain	1.0000
7:51085165:CCCAT:C	donor_gain	1.0000
7:51085178:T:TA	donor_gain	1.0000

AlphaMissense

8225 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:51025143:A:T	I1245N	0.998
7:51193556:G:C	C93W	0.998
7:51025143:A:G	I1245T	0.997
7:51025147:C:G	A1244P	0.997
7:51027750:C:G	A1116P	0.997
7:51028886:C:A	G737V	0.997
7:51191065:A:G	L157S	0.997
7:51190873:A:G	L221P	0.996
7:51190984:A:T	I184N	0.996
7:51193558:A:G	C93R	0.996
7:51025143:A:C	I1245S	0.995
7:51193521:A:T	L105H	0.995
7:51193572:A:G	L88P	0.995
7:51028501:G:C	S865R	0.994
7:51028501:G:T	S865R	0.994
7:51028503:T:G	S865R	0.994
7:51190942:A:G	L198P	0.994
7:51193557:C:T	C93Y	0.994
7:51025140:C:G	R1246P	0.993
7:51028886:C:T	G737E	0.993
7:51028895:T:A	D734V	0.993
7:51190873:A:T	L221H	0.993
7:51193560:A:G	L92P	0.993
7:51193569:A:G	L89P	0.993
7:51025155:A:G	L1241S	0.992
7:51027758:A:G	L1113P	0.992
7:51190984:A:C	I184S	0.992
7:51025138:A:G	S1247P	0.991
7:51028887:C:A	G737W	0.991
7:51190945:A:G	L197P	0.991

dbSNP variants (sampled 300 via entrez): RS1000012946 (7:51297186 G>A,C), RS1000022127 (7:51123916 A>C,G), RS1000022373 (7:51188345 C>T), RS1000024127 (7:51057209 A>C), RS1000030445 (7:51123487 C>G,T), RS1000037791 (7:51307666 T>A), RS1000042375 (7:51218818 C>T), RS1000045901 (7:51241624 T>C), RS1000049845 (7:51141721 T>C), RS1000057848 (7:51246851 G>C,T), RS1000085845 (7:51129320 G>C), RS1000092653 (7:51182378 T>G), RS1000098855 (7:51302542 T>C), RS1000108274 (7:51247094 G>A), RS1000108939 (7:51022917 G>A,T)

Disease associations

OMIM: gene MIM:610317 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

21 associations (top):

Study	Trait	p-value
GCST000392_9	Type 1 diabetes	4.000000e-08
GCST002037_3	Post-traumatic stress disorder (asjusted for relatedness)	2.000000e-08
GCST002037_9	Post-traumatic stress disorder (asjusted for relatedness)	3.000000e-08
GCST002160_2	Wegener’s granulomatosis	4.000000e-07
GCST002828_27	Urate levels in obese individuals	8.000000e-06
GCST003173_2	Visceral adipose tissue/subcutaneous adipose tissue ratio	5.000000e-07
GCST003262_497	Post bronchodilator FEV1	3.000000e-09
GCST003264_1357	Post bronchodilator FEV1/FVC ratio	5.000000e-08
GCST003815_93	Late-onset Alzheimer’s disease	4.000000e-08
GCST004750_18	Squamous cell lung carcinoma	7.000000e-06
GCST005652_3	Cleft lip with or without cleft palate (maternal periconceptional vitamin use interaction)	2.000000e-06
GCST005950_9	Body mass index x sex x age interaction (4df test)	2.000000e-09
GCST005951_200	Body mass index	2.000000e-08
GCST005951_57	Body mass index	3.000000e-10
GCST005953_3	Body mass index (age <50)	8.000000e-10
GCST006423_8	Fracture	5.000000e-10
GCST006976_5	Macular thickness	1.000000e-54
GCST009873_18	Autoimmune traits (pleiotropy)	2.000000e-08
GCST010002_251	Refractive error	3.000000e-11
GCST011108_4	Colorectal cancer x fine particulate matter exposure levels interaction	3.000000e-09
GCST011696_15	Alzheimer’s disease	5.000000e-06

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0004767	visceral:subcutaneous adipose tissue ratio
EFO:0004314	forced expiratory volume
EFO:0004713	FEV/FVC ratio
EFO:1001870	late-onset Alzheimers disease
EFO:0003959	cleft lip
EFO:0009116	vitamin supplement exposure measurement
EFO:0004340	body mass index
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0008255	particulate matter air pollution measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	6
Valproic Acid	affects cotreatment, increases expression	5
Acetaminophen	decreases expression	4
methylmercuric chloride	affects cotreatment, increases expression	3
trichostatin A	affects cotreatment, increases expression	3
Tobacco Smoke Pollution	decreases expression, increases expression, increases methylation	3
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	3
Aflatoxin B1	affects expression, decreases expression, decreases methylation	3
sodium arsenite	decreases expression, increases expression	2
entinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
Nickel	decreases expression	2
Cyclosporine	decreases expression	2
FR900359	affects phosphorylation	1
methyleugenol	decreases expression	1
propionaldehyde	increases expression	1
bisphenol A	affects methylation, decreases methylation, affects cotreatment	1
coumarin	affects phosphorylation	1
CGP 52608	increases reaction, affects binding	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
belinostat	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, affects methylation	1

Clinical trials (associated diseases)

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