CEP350

Summary

CEP350 (centrosomal protein 350, HGNC:24238) is a protein-coding gene on chromosome 1q25.2, encoding Centrosome-associated protein 350 (Q5VT06). Plays an essential role in centriole growth by stabilizing a procentriolar seed composed of at least, SASS6 and CPAP.

The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined.

Source: NCBI Gene 9857 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 477 total — 1 pathogenic
• MANE Select transcript: NM_014810

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24238
Approved symbol	CEP350
Name	centrosomal protein 350
Location	1q25.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0480, CAP350
Ensembl gene	ENSG00000135837
Ensembl biotype	protein_coding
OMIM	617870
Entrez	9857

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 8 retained_intron, 8 nonsense_mediated_decay, 6 protein_coding, 6 protein_coding_CDS_not_defined

ENST00000357434, ENST00000367607, ENST00000417046, ENST00000418229, ENST00000429851, ENST00000437245, ENST00000484356, ENST00000490047, ENST00000490141, ENST00000491495, ENST00000496440, ENST00000705470, ENST00000706234, ENST00000706235, ENST00000706236, ENST00000706237, ENST00000706238, ENST00000706239, ENST00000706240, ENST00000706241, ENST00000706242, ENST00000706262, ENST00000706263, ENST00000706264, ENST00000706265, ENST00000713622, ENST00000939150, ENST00000939151

RefSeq mRNA: 1 — MANE Select: NM_014810 NM_014810

CCDS: CCDS1336

Canonical transcript exons

ENST00000367607 — 38 exons

Exon	Start	End
ENSE00000822653	180084018	180084178
ENSE00001008341	180041662	180041802
ENSE00001008349	180043056	180043192
ENSE00001068566	180052970	180053166
ENSE00001829752	180110997	180114875
ENSE00001858805	179954810	179955142
ENSE00002206720	180054415	180054502
ENSE00002211042	180078463	180078674
ENSE00002220456	180080517	180080661
ENSE00002241783	180065115	180065272
ENSE00002259252	180053750	180053934
ENSE00002306411	180075022	180075221
ENSE00002322539	180062220	180062366
ENSE00003523821	180048536	180048705
ENSE00003538330	180092614	180094616
ENSE00003557070	180090714	180090796
ENSE00003558346	180087578	180087717
ENSE00003568893	180044051	180044173
ENSE00003570991	180096038	180096184
ENSE00003608883	180095523	180095930
ENSE00003653064	180098863	180098985
ENSE00003995137	179987240	179987286
ENSE00003995173	179992062	179992221
ENSE00003995175	180003174	180003287
ENSE00003995177	180036926	180037089
ENSE00003995183	180019949	180021009
ENSE00003995184	180031320	180031494
ENSE00003995185	180024419	180024582
ENSE00003995188	180022698	180022848
ENSE00003995192	180041138	180041248
ENSE00003995193	179996553	179997175
ENSE00003995195	180033862	180034082
ENSE00003995198	180011929	180012075
ENSE00003995199	180013847	180014505
ENSE00003995200	180006454	180006567
ENSE00003995204	180015849	180015970
ENSE00003995232	179986169	179986254
ENSE00003995256	179990507	179990621

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 96.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.2988 / max 426.2672, expressed in 1804 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6939	27.9186	1802
6938	0.3589	170
6941	0.0213	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	96.50	gold quality
trabecular bone tissue	UBERON:0002483	96.11	gold quality
nipple	UBERON:0002030	95.92	gold quality
left testis	UBERON:0004533	95.87	gold quality
calcaneal tendon	UBERON:0003701	95.86	gold quality
right testis	UBERON:0004534	95.60	gold quality
cranial nerve II	UBERON:0000941	95.53	gold quality
pancreatic ductal cell	CL:0002079	95.38	gold quality
jejunal mucosa	UBERON:0000399	95.26	gold quality
gingival epithelium	UBERON:0001949	95.23	gold quality
visceral pleura	UBERON:0002401	95.04	gold quality
male germ cell	CL:0000015	94.93	gold quality
testis	UBERON:0000473	94.77	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	94.75	gold quality
lower lobe of lung	UBERON:0008949	94.74	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	94.71	gold quality
deltoid	UBERON:0001476	94.64	gold quality
corpus callosum	UBERON:0002336	94.59	gold quality
gingiva	UBERON:0001828	94.47	gold quality
caput epididymis	UBERON:0004358	94.47	gold quality
pylorus	UBERON:0001166	94.39	gold quality
biceps brachii	UBERON:0001507	94.36	gold quality
tibia	UBERON:0000979	94.33	gold quality
cauda epididymis	UBERON:0004360	94.28	gold quality
mammary duct	UBERON:0001765	94.23	gold quality
superior surface of tongue	UBERON:0007371	94.16	gold quality
jejunum	UBERON:0002115	94.15	gold quality
tibialis anterior	UBERON:0001385	94.09	gold quality
mucosa of paranasal sinus	UBERON:0005030	94.09	gold quality
epithelium of mammary gland	UBERON:0003244	94.06	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.01

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

317 targeting CEP350, 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-1252-5P	100.00	69.80	2774
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-5696	99.98	72.36	4487

Literature-anchored findings (GeneRIF, showing 6)

• CAP350 interacts directly with FOP (FGFR1 oncogene partner) to form a centrosomal complex required for microtubule anchoring. (PMID:16314388)
• CAP350 specifically stabilises Golgi-associated microtubules and in this way participates in the maintenance of a continuous pericentrosomal Golgi ribbon. (PMID:17878239)
• CEP350 is a tumor-suppressor gene in human melanoma. (PMID:25848750)
• Results from a study on gene variability markers in early-stage human embryos shows that CEP350 is a putative variability marker for the 3-day, 8-cell embryo stage. (PMID:26288249)
• Expression of cancer-specific glycan epitopes represents an excellent opportunity for diagnostics and potentially specific detection of tumors. Here, we report four proteins (LIFR, CE350, VP13A, HPT) found in sera from pancreatic cancer patients carrying aberrant glycan structures as compared to those of controls. (PMID:28244758)
• CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels. (PMID:34259627)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cep350	ENSDARG00000058000
mus_musculus	Cep350	ENSMUSG00000033671
rattus_norvegicus	Cep350	ENSRNOG00000003882

Protein

Protein identifiers

Centrosome-associated protein 350 — Q5VT06 (reviewed: Q5VT06)

Alternative names: Centrosome-associated protein of 350 kDa

All UniProt accessions (9): A0A994J5G8, Q5VT06, A0A994J5T9, A0A994J5V0, A0AAQ5BGJ2, H0Y7F7, H0YD38, Q5T2X4, Q5T2X5

UniProt curated annotations — full annotation on UniProt →

Function. Plays an essential role in centriole growth by stabilizing a procentriolar seed composed of at least, SASS6 and CPAP. Required for anchoring microtubules to the centrosomes and for the integrity of the microtubule network. Recruits PPARA to discrete subcellular compartments and thereby modulates PPARA activity. Required for ciliation.

Subunit / interactions. Part of a ternary complex that contains CEP350, CEP43 and MAPRE1. Interacts (via C-terminus) directly with CEP43 (via N-terminus). Interacts with NR1H3, PPARA, PPARD and PPARG. Interacts directly with microtubules. Interacts with the fusion protein CEP43-FGFR1, and by doing so recruits and activates PI3K and PLC-gamma. Interacts with CYLD. Interacts with CFAP157. Interacts with CEP19 (via C-terminus). Interacts with CEP78; promoting CEP78 localization to centrosome and centriole.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Spindle. Nucleus. Centriole. Cilium basal body.

Tissue specificity. Detected in heart, brain, skeletal muscle, testis, placenta, lung, liver, kidney and pancreas.

Post-translational modifications. Phosphorylated during mitosis.

RefSeq proteins (1): NP_055625* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000938	CAP-Gly_domain	Domain
IPR025486	LNG1/2-like_C	Domain
IPR028750	CEP350/CC187	Family
IPR036859	CAP-Gly_dom_sf	Homologous_superfamily

Pfam: PF01302, PF14309

UniProt features (99 total): compositionally biased region 30, modified residue 26, region of interest 14, sequence variant 7, strand 7, coiled-coil region 6, sequence conflict 4, chain 1, domain 1, mutagenesis site 1, turn 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2COZ	SOLUTION NMR

Predicted structure (AlphaFold)

No AlphaFold model available for Q5VT06 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

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

Post-translational modifications (26): 86, 139, 142, 218, 473, 507, 695, 878, 939, 1061, 1253, 1256, 1259, 1613, 1648, 1653, 1818, 1936, 2115, 2204 …

Mutagenesis-validated functional residues (1):

Position	Phenotype
762–763	abolishes recruitment of ppara to specific nuclear foci. no effect on interaction with ppara (in vitro).

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 318 (showing top): GCM_MAP4K4, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, GOBP_MICROTUBULE_ANCHORING, TTTGTAG_MIR520D, MORF_ATRX, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOCC_MICROTUBULE_ORGANIZING_CENTER, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, FISCHER_G2_M_CELL_CYCLE, GOBP_CILIUM_ORGANIZATION, GOCC_CENTROSOME, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, AAAGACA_MIR511

GO Biological Process (4): microtubule anchoring (GO:0034453), protein localization to centrosome (GO:0071539), non-motile cilium assembly (GO:1905515), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (3): microtubule binding (GO:0008017), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (12): nucleoplasm (GO:0005654), centrosome (GO:0005813), centriole (GO:0005814), spindle (GO:0005819), cytosol (GO:0005829), membrane (GO:0016020), ciliary basal body (GO:0036064), sperm end piece (GO:0097229), nucleus (GO:0005634), 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	6
microtubule organizing center	3
intracellular membraneless organelle	3
microtubule cytoskeleton organization	1
protein localization to microtubule organizing center	1
cilium assembly	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
tubulin binding	1
nucleic acid binding	1
binding	1
nuclear lumen	1
centriole	1
microtubule cytoskeleton	1
cytoplasm	1
cilium	1
sperm flagellum	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1712 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEP350	CEP43	O95684	736
CEP350	CEP19	Q96LK0	693
CEP350	CEP135	Q66GS9	688
CEP350	CYLD	Q9NQC7	679
CEP350	CEP97	Q8IW35	652
CEP350	CEP89	Q96ST8	624
CEP350	CEP290	O15078	597
CEP350	NIN	Q8N4C6	591
CEP350	CEP170	Q5SW79	584
CEP350	NEDD1	Q8NHV4	582
CEP350	CEP152	O94986	581
CEP350	CEP120	Q8N960	578
CEP350	CNTLN	Q9NXG0	574
CEP350	CEP131	Q9UPN4	568
CEP350	CEP164	Q9UPV0	560

IntAct

152 interactions, top by confidence:

A	B	Type	Score
KIFAP3	KIF3B	psi-mi:“MI:0914”(association)	0.900
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
CEP290	CCP110	psi-mi:“MI:2364”(proximity)	0.890
PPP2R1A	STRN	psi-mi:“MI:0914”(association)	0.880
PPP2R1A	STRN	psi-mi:“MI:2364”(proximity)	0.880
PPP2CB	STRN	psi-mi:“MI:0914”(association)	0.790
CEP350	CEP43	psi-mi:“MI:0914”(association)	0.770
CEP19	CEP43	psi-mi:“MI:0914”(association)	0.770
KIF22	KPNA4	psi-mi:“MI:0914”(association)	0.730
PPP2CB	CEP43	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
VCP	UBXN8	psi-mi:“MI:0914”(association)	0.690
PPP2R1A	PPFIA3	psi-mi:“MI:0914”(association)	0.670
CEP350	CTNNA1	psi-mi:“MI:0915”(physical association)	0.580
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
CEP104	CCDC66	psi-mi:“MI:2364”(proximity)	0.540
rep	TBKBP1	psi-mi:“MI:0914”(association)	0.530
CBX6	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
DISC1	AP4M1	psi-mi:“MI:0914”(association)	0.530
PIP	TBKBP1	psi-mi:“MI:0914”(association)	0.530

BioGRID (237): CYLD (Affinity Capture-Western), CEP350 (Affinity Capture-Western), CEP350 (Affinity Capture-RNA), PPARA (Reconstituted Complex), PPARG (Reconstituted Complex), PPARD (Reconstituted Complex), NR1H3 (Reconstituted Complex), CEP350 (Affinity Capture-MS), CEP350 (Affinity Capture-MS), CEP350 (Affinity Capture-MS), CEP350 (Proximity Label-MS), CEP350 (Proximity Label-MS), CEP350 (Proximity Label-MS), CEP350 (Proximity Label-MS), CEP350 (Proximity Label-MS)

ESM2 similar proteins: A0A096MK47, A0JNH1, A6H5Y1, A6NCI8, A6NFA0, A6NGG8, B2RQL2, D3Z1D3, D3ZMK9, E9Q286, E9Q309, M0RD54, O14513, P51816, Q01613, Q03172, Q05860, Q2M2Z5, Q32LN6, Q3MHH3, Q3UXL4, Q3V0A6, Q569L8, Q571I4, Q5DTX6, Q5FW52, Q5HYW2, Q5R9I1, Q5VT06, Q5VWP3, Q60988, Q66HG9, Q68DA7, Q6P1W5, Q6P9P0, Q6PAC4, Q6PG16, Q711Q0, Q7TP36, Q7TSA6

Diamond homologs: A0A287B8J2, B9EHT4, E9Q309, O08788, O42184, O42667, O55156, P13496, P28023, P30622, P33420, P34531, P35458, Q01397, Q10235, Q14203, Q15813, Q20728, Q32KS0, Q54Z01, Q55CN0, Q5E951, Q5FVQ9, Q5R686, Q5RBD9, Q5U243, Q5U378, Q5VT06, Q66HD5, Q67Z52, Q6PCJ1, Q8CI96, Q8CIV8, Q8GRL7, Q8N3C7, Q922J3, Q96DZ5, Q96KQ7, Q99426, Q9D1E6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CEP350	“form complex”	FGFR1OP/CEP350	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 165 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
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	40.7×	4e-07
Activation of BAD and translocation to mitochondria	5	38.5×	5e-06
Signaling by GSK3beta mutants	5	38.5×	5e-06
CTNNB1 S33 mutants aren’t phosphorylated	5	38.5×	5e-06
CTNNB1 S37 mutants aren’t phosphorylated	5	38.5×	5e-06
CTNNB1 S45 mutants aren’t phosphorylated	5	38.5×	5e-06
CTNNB1 T41 mutants aren’t phosphorylated	5	38.5×	5e-06
Beta-catenin phosphorylation cascade	5	33.9×	9e-06

GO biological processes:

GO term	Partners	Fold	FDR
centriole replication	5	26.2×	3e-04
protein localization to centrosome	5	24.1×	4e-04
non-motile cilium assembly	7	14.5×	2e-04
cytoplasmic microtubule organization	5	12.3×	7e-03
intracellular protein localization	13	9.7×	5e-07
cilium assembly	17	8.9×	9e-09
positive regulation of autophagy	6	8.9×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	403
Likely benign	23
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	Pathogenic

SpliceAI

6393 predictions. Top by Δscore:

Variant	Effect	Δscore
1:179986250:TCAAG:T	donor_loss	1.0000
1:179986251:CAAGG:C	donor_loss	1.0000
1:179986252:AAGGT:A	donor_loss	1.0000
1:179986253:AGG:A	donor_loss	1.0000
1:179986255:GTAT:G	donor_loss	1.0000
1:179986256:T:A	donor_loss	1.0000
1:179987239:GCA:G	acceptor_gain	1.0000
1:179987282:CTGCT:C	donor_gain	1.0000
1:179987284:GCT:G	donor_gain	1.0000
1:179987285:CT:C	donor_gain	1.0000
1:179987285:CTG:C	donor_loss	1.0000
1:179987287:G:C	donor_loss	1.0000
1:179987287:G:GG	donor_gain	1.0000
1:179987288:T:G	donor_loss	1.0000
1:179987289:A:AG	donor_loss	1.0000
1:179987290:A:AC	donor_loss	1.0000
1:179990505:A:AG	acceptor_gain	1.0000
1:179990506:G:GG	acceptor_gain	1.0000
1:179990506:GCT:G	acceptor_gain	1.0000
1:179990506:GCTGA:G	acceptor_gain	1.0000
1:179992060:AGAT:A	acceptor_gain	1.0000
1:179992061:GATG:G	acceptor_gain	1.0000
1:179992218:ATAG:A	donor_loss	1.0000
1:179992223:T:A	donor_loss	1.0000
1:179992224:TAGTA:T	donor_loss	1.0000
1:179997171:TAAAG:T	donor_loss	1.0000
1:179997172:AAAG:A	donor_loss	1.0000
1:179997173:AAG:A	donor_loss	1.0000
1:179997175:GGTT:G	donor_loss	1.0000
1:179997176:G:GA	donor_loss	1.0000

AlphaMissense

20562 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:180020268:G:C	A832P	1.000
1:180053874:G:C	R1705P	1.000
1:180062236:T:C	L1760P	1.000
1:180098984:T:C	L3063P	1.000
1:180111007:T:C	L3067P	1.000
1:180111027:T:A	W3074R	1.000
1:180111027:T:C	W3074R	1.000
1:180111029:G:C	W3074C	1.000
1:180111029:G:T	W3074C	1.000
1:180011958:T:A	W426R	0.999
1:180011958:T:C	W426R	0.999
1:180011960:G:C	W426C	0.999
1:180011960:G:T	W426C	0.999
1:180020262:G:C	A830P	0.999
1:180020269:C:A	A832D	0.999
1:180053786:T:C	F1676L	0.999
1:180053788:T:A	F1676L	0.999
1:180053788:T:G	F1676L	0.999
1:180053795:T:C	F1679L	0.999
1:180053796:T:C	F1679S	0.999
1:180053797:T:A	F1679L	0.999
1:180053797:T:G	F1679L	0.999
1:180053843:G:C	A1695P	0.999
1:180053862:T:C	L1701P	0.999
1:180053865:T:C	L1702P	0.999
1:180053871:T:C	L1704P	0.999
1:180053903:G:C	A1715P	0.999
1:180054471:G:C	R1744P	0.999
1:180062220:G:C	A1755P	0.999
1:180062244:G:C	A1763P	0.999

dbSNP variants (sampled 300 via entrez): RS1000017931 (1:179969988 A>C,G), RS1000049914 (1:180023128 G>A), RS1000087497 (1:179977028 T>C), RS1000154786 (1:179999623 G>C,T), RS1000165468 (1:179963698 T>C), RS1000180132 (1:180019544 T>A), RS1000180955 (1:180009208 C>T), RS1000224858 (1:180062813 C>G), RS1000225487 (1:180000921 T>A,C,G), RS1000238697 (1:180051209 A>C), RS1000242992 (1:179974948 A>G), RS1000251968 (1:180072093 A>C), RS1000256322 (1:180016559 A>G), RS1000279348 (1:180028966 G>A), RS1000300499 (1:180025721 G>A)

Disease associations

OMIM: gene MIM:617870 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001961_12	Anorexia nervosa	9.000000e-06
GCST007603_21	Smoking initiation	5.000000e-09
GCST90002392_290	Mean corpuscular volume	2.000000e-10
GCST90002396_153	Mean reticulocyte volume	2.000000e-11
GCST90002396_154	Mean reticulocyte volume	1.000000e-15
GCST90002397_784	Mean spheric corpuscular volume	9.000000e-12
GCST90002397_785	Mean spheric corpuscular volume	1.000000e-14

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005670	smoking initiation
EFO:0010701	mean reticulocyte volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	4
trichostatin A	affects cotreatment, decreases expression	2
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	2
Acrolein	affects cotreatment, increases oxidation, increases abundance	2
Arsenic	affects cotreatment, decreases expression, increases abundance, affects methylation	2
Ozone	affects cotreatment, increases oxidation, increases abundance	2
Valproic Acid	decreases expression, decreases methylation	2
FR900359	affects phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	increases expression	1
salinomycin	decreases expression	1
arsenite	affects binding, decreases reaction	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, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Vorinostat	decreases expression	1
Air Pollutants	increases oxidation, affects cotreatment, increases abundance	1
Asbestos	affects response to substance	1
Caffeine	increases phosphorylation	1
Calcitriol	increases expression, affects cotreatment	1
Cisplatin	decreases expression	1
Clorgyline	increases expression	1
Formaldehyde	decreases expression	1
Lead	increases expression	1
Methotrexate	increases expression	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_C0FY	CHUSJi003-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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