CEP126

Summary

CEP126 (centrosomal protein 126, HGNC:29264) is a protein-coding gene on chromosome 11q22.1, encoding Centrosomal protein of 126 kDa (Q9P2H0). Participates in cytokinesis.

Involved in cilium assembly; cytoplasmic microtubule organization; and mitotic spindle organization. Located in centrosome; ciliary base; and midbody.

Source: NCBI Gene 57562 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 146 total
• Phenotypes (HPO): 10
• MANE Select transcript: NM_020802

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29264
Approved symbol	CEP126
Name	centrosomal protein 126
Location	11q22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000110318
Ensembl biotype	protein_coding
OMIM	614634
Entrez	57562

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 3 nonsense_mediated_decay

ENST00000263468, ENST00000532077, ENST00000532529, ENST00000670091, ENST00000670318, ENST00000931861

RefSeq mRNA: 2 — MANE Select: NM_020802 NM_001363543, NM_020802

CCDS: CCDS31658

Canonical transcript exons

ENST00000263468 — 11 exons

Exon	Start	End
ENSE00001136613	101997599	102001062
ENSE00001136620	101948031	101948142
ENSE00001468389	101944265	101944410
ENSE00001468390	101922641	101922760
ENSE00001468391	101915010	101915412
ENSE00003478289	101958168	101958366
ENSE00003486863	101981889	101981964
ENSE00003513590	101992778	101992842
ENSE00003619813	101986832	101987041
ENSE00003644338	101961741	101963880
ENSE00003667657	101978347	101978459

Expression profiles

Bgee: expression breadth ubiquitous, 238 present calls, max score 98.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.0831 / max 331.9914, expressed in 1303 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116374	3.9690	1105
116375	3.0544	871
116377	0.0597	23

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	98.96	gold quality
bronchus	UBERON:0002185	98.17	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.34	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.34	gold quality
middle temporal gyrus	UBERON:0002771	96.13	gold quality
buccal mucosa cell	CL:0002336	95.88	gold quality
right uterine tube	UBERON:0001302	95.37	gold quality
endothelial cell	CL:0000115	95.33	gold quality
entorhinal cortex	UBERON:0002728	95.04	gold quality
tibia	UBERON:0000979	94.44	gold quality
oviduct epithelium	UBERON:0004804	94.20	gold quality
postcentral gyrus	UBERON:0002581	93.80	gold quality
parietal lobe	UBERON:0001872	93.03	gold quality
superior frontal gyrus	UBERON:0002661	92.45	gold quality
substantia nigra pars reticulata	UBERON:0001966	91.81	gold quality
caput epididymis	UBERON:0004358	91.27	gold quality
pancreatic ductal cell	CL:0002079	91.06	gold quality
substantia nigra pars compacta	UBERON:0001965	90.92	gold quality
sperm	CL:0000019	90.86	silver quality
pituitary gland	UBERON:0000007	90.46	gold quality
lateral nuclear group of thalamus	UBERON:0002736	90.43	gold quality
cerebellar vermis	UBERON:0004720	90.35	gold quality
calcaneal tendon	UBERON:0003701	90.25	gold quality
Brodmann (1909) area 46	UBERON:0006483	89.39	gold quality
layer of synovial tissue	UBERON:0007616	89.19	gold quality
primary visual cortex	UBERON:0002436	89.05	gold quality
adenohypophysis	UBERON:0002196	88.96	gold quality
epithelial cell of pancreas	CL:0000083	88.72	silver quality
occipital lobe	UBERON:0002021	88.72	gold quality
tendon of biceps brachii	UBERON:0008188	88.62	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-83139	yes	275.25
E-MTAB-5061	yes	162.30
E-ANND-3	yes	11.13
E-GEOD-125970	yes	8.91
E-MTAB-9388	yes	7.16
E-HCAD-31	no	18.61
E-ENAD-27	no	7.71
E-MTAB-6379	no	3.89

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

126 targeting CEP126, 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-190A-3P	100.00	80.35	5520
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778

Literature-anchored findings (GeneRIF, showing 3)

• KIAA1377 and C5orf42 gene synergistically play a role as susceptibility genes for monomelic amyotrophy. (PMID:22264561)
• CEP126 is a regulator of microtubule organisation at the centrosome that acts through modulation of the transport of pericentriolar satellites, and consequently, of the organisation of cell structure (PMID:24867236)
• It was exhibited that KIAA1377 was able to promote the proliferation and motility of both KYSE-150 and HeLa cells, which can be reverted by re-expression of let-7b-5p. The luciferase reporter assay verified that let-7b-5p can diametrically target KIAA1377. Collectively, our data demonstrated that let-7b-5p can directly but negatively regulate KIAA1377 in SCC cell lines, Ecal109, and HeLa cells. (PMID:30958603)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cep126	ENSDARG00000068398
mus_musculus	Cep126	ENSMUSG00000040729
rattus_norvegicus	Cep126	ENSRNOG00000021839

Protein

Protein identifiers

Centrosomal protein of 126 kDa — Q9P2H0 (reviewed: Q9P2H0)

All UniProt accessions (5): Q9P2H0, A0A590UJH0, A0A590UK33, H0YDI0, H0YF13

UniProt curated annotations — full annotation on UniProt →

Function. Participates in cytokinesis. Necessary for microtubules and mitotic spindle organization. Involved in primary cilium formation.

Subunit / interactions. Interacts with DCTN1.

Subcellular location. Midbody. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Cilium basal body.

Tissue specificity. Expressed in brain, lung, skeletal muscle, kidney, pancreas, testis and ovary.

Miscellaneous. Depletion of CEP126 by siRNA results in an increase in cytokinesis aberrant cells.

RefSeq proteins (2): NP_001350472, NP_065853* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028257	CEP126	Family

Pfam: PF15352

UniProt features (16 total): sequence variant 9, region of interest 3, compositionally biased region 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P2H0-F1	49.44	0.10

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 127 (showing top): GOBP_CYTOPLASMIC_MICROTUBULE_ORGANIZATION, chr11q22, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CILIUM_ORGANIZATION, RIGGI_EWING_SARCOMA_PROGENITOR_DN, GOCC_CENTROSOME, GOBP_ORGANELLE_ASSEMBLY, GOBP_MITOTIC_CELL_CYCLE, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_MIDBODY, GOCC_CILIARY_BASE, GOCC_CILIUM, GOBP_CELL_CYCLE_PROCESS, GOBP_SPINDLE_ORGANIZATION

GO Biological Process (5): mitotic spindle organization (GO:0007052), cytoplasmic microtubule organization (GO:0031122), cilium assembly (GO:0060271), non-motile cilium assembly (GO:1905515), cell projection organization (GO:0030030)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): centrosome (GO:0005813), midbody (GO:0030496), ciliary base (GO:0097546), 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
mitotic cell cycle	1
spindle organization	1
microtubule cytoskeleton organization involved in mitosis	1
microtubule cytoskeleton organization	1
supramolecular fiber organization	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cilium assembly	1
cellular component organization	1
binding	1
centriole	1
microtubule organizing center	1
cilium	1
ciliary transition zone	1
ciliary transition fiber	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

888 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEP126	ANGPTL5	Q86XS5	531
CEP126	CPLANE1	Q9H799	529
CEP126	PMF1	Q6P1K2	513
CEP126	A0A087WT04	A0A087WT04	509
CEP126	TOPAZ1	Q8N9V7	499
CEP126	CCDC18	Q5T9S5	478
CEP126	SPDL1	Q96EA4	470
CEP126	CEP128	Q6ZU80	469
CEP126	CCDC13	Q8IYE1	454
CEP126	CEP63	Q96MT8	451
CEP126	AP4E1	Q9UPM8	449
CEP126	ATRX	P46100	449
CEP126	CFAP300	Q9BRQ4	449
CEP126	CCDC12	Q8WUD4	434
CEP126	SCAPER	Q9BY12	431

IntAct

110 interactions, top by confidence:

A	B	Type	Score
LUC7L2	CEP126	psi-mi:“MI:0915”(physical association)	0.550
YAE1	CEP126	psi-mi:“MI:0915”(physical association)	0.550
CEP126	HMOX2	psi-mi:“MI:0915”(physical association)	0.550
CEP126	NUDT21	psi-mi:“MI:0915”(physical association)	0.550
CEP126	HTT	psi-mi:“MI:0915”(physical association)	0.510
GIT1	CEP126	psi-mi:“MI:0915”(physical association)	0.510
CEP126	KAT7	psi-mi:“MI:0915”(physical association)	0.510
BARD1	CEP126	psi-mi:“MI:0915”(physical association)	0.510
GADD45G	CEP126	psi-mi:“MI:0915”(physical association)	0.510
CEP126	KAT5	psi-mi:“MI:0915”(physical association)	0.510
CEP126	FEZ1	psi-mi:“MI:0915”(physical association)	0.510
FEZ1	CEP126	psi-mi:“MI:0915”(physical association)	0.510
KAT7	CEP126	psi-mi:“MI:0915”(physical association)	0.510
HTT	CEP126	psi-mi:“MI:0915”(physical association)	0.510
KAT5	CEP126	psi-mi:“MI:0915”(physical association)	0.510
CEP126	THRAP3	psi-mi:“MI:0915”(physical association)	0.400
CEP126	E7	psi-mi:“MI:0915”(physical association)	0.370
DGCR6	CEP126	psi-mi:“MI:0915”(physical association)	0.370
CEP126	MLH1	psi-mi:“MI:0915”(physical association)	0.370
LRIF1	CEP126	psi-mi:“MI:0915”(physical association)	0.370
Hap1	CEP126	psi-mi:“MI:0915”(physical association)	0.370
KBTBD7	CEP126	psi-mi:“MI:0915”(physical association)	0.370
CEP126	ING5	psi-mi:“MI:0915”(physical association)	0.370
CEP126	GPRASP2	psi-mi:“MI:0915”(physical association)	0.370
CEP126	IMMT	psi-mi:“MI:0915”(physical association)	0.370
KPNA2	CEP126	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (89): KIAA1377 (Two-hybrid), KIAA1377 (Two-hybrid), KIAA1377 (Synthetic Lethality), KIAA1377 (Two-hybrid), KIAA1377 (Two-hybrid), KIAA1377 (Two-hybrid), KIAA1377 (Two-hybrid), KIAA1377 (Two-hybrid), KIAA1377 (Two-hybrid), KIAA1377 (Two-hybrid), KIAA1377 (Two-hybrid), KIAA1377 (Two-hybrid), KIAA1377 (Two-hybrid), KIAA1377 (Two-hybrid), KIAA1377 (Two-hybrid)

ESM2 similar proteins: A0A087WRU1, A0JNH1, A2RUB1, A6QNQ6, B0S6S9, B1WC58, D3Z987, D3ZJ47, E1BC15, O60673, P28358, P28359, P56716, P70347, Q0P5X5, Q0VAV2, Q0VBV7, Q15468, Q2M2Z5, Q3UXL4, Q3V089, Q49A88, Q569L8, Q5BQN8, Q5CZC0, Q5QGS0, Q5T1N1, Q5VWN6, Q60988, Q61493, Q62924, Q6ZP01, Q6ZU52, Q6ZVD7, Q80U59, Q80WQ8, Q86WS4, Q86YC2, Q8CB14, Q8IUR6

Diamond homologs: Q0VBV7, Q9P2H0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 96 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
Regulation of TP53 Activity	5	10.4×	8e-03
Transcriptional Regulation by TP53	9	8.7×	4e-04
Cell Cycle	9	5.1×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	114
Likely benign	18
Benign	9

Top pathogenic / likely-pathogenic (0)

SpliceAI

2465 predictions. Top by Δscore:

Variant	Effect	Δscore
11:101944404:A:T	donor_gain	1.0000
11:101944426:GAACA:G	donor_gain	1.0000
11:101944431:G:GG	donor_gain	1.0000
11:101948029:A:AG	acceptor_gain	1.0000
11:101948030:G:GG	acceptor_gain	1.0000
11:101948139:GGAG:G	donor_gain	1.0000
11:101948140:GAG:G	donor_gain	1.0000
11:101948140:GAGG:G	donor_gain	1.0000
11:101948142:GGT:G	donor_loss	1.0000
11:101948143:G:T	donor_loss	1.0000
11:101948144:T:G	donor_loss	1.0000
11:101958352:C:G	donor_gain	1.0000
11:101958367:G:GG	donor_gain	1.0000
11:101978460:G:GG	donor_gain	1.0000
11:101981884:TGTA:T	acceptor_loss	1.0000
11:101981886:TA:T	acceptor_loss	1.0000
11:101981887:A:AG	acceptor_gain	1.0000
11:101981887:A:C	acceptor_loss	1.0000
11:101981888:G:GA	acceptor_gain	1.0000
11:101981888:GA:G	acceptor_gain	1.0000
11:101981888:GAATT:G	acceptor_gain	1.0000
11:101981962:AAGG:A	donor_loss	1.0000
11:101981964:GGTA:G	donor_loss	1.0000
11:101981965:GTAT:G	donor_loss	1.0000
11:101923730:GTTC:G	donor_gain	0.9900
11:101923734:A:AG	donor_gain	0.9900
11:101923735:G:GG	donor_gain	0.9900
11:101923817:G:GT	donor_gain	0.9900
11:101944257:A:AG	acceptor_gain	0.9900
11:101944260:TATA:T	acceptor_loss	0.9900

AlphaMissense

7384 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:101944368:T:C	F118L	0.991
11:101944370:C:A	F118L	0.991
11:101944370:C:G	F118L	0.991
11:101944337:A:C	R107S	0.989
11:101944337:A:T	R107S	0.989
11:101922682:G:C	R57P	0.985
11:101922755:A:C	R81S	0.982
11:101922755:A:T	R81S	0.982
11:101962775:G:C	K580N	0.978
11:101962775:G:T	K580N	0.978
11:101922751:G:C	R80P	0.977
11:101944369:T:C	F118S	0.977
11:101922715:G:C	R68P	0.972
11:101922744:T:C	S78P	0.970
11:101944375:G:C	R120P	0.970
11:101961789:A:C	S252R	0.967
11:101961791:T:A	S252R	0.967
11:101961791:T:G	S252R	0.967
11:101922727:G:C	R72P	0.966
11:101948063:G:C	A143P	0.966
11:101922703:A:C	Q64P	0.965
11:101944327:T:C	L104P	0.962
11:101944336:G:C	R107T	0.960
11:101962929:T:A	W632R	0.960
11:101962929:T:C	W632R	0.960
11:101961798:A:C	S255R	0.959
11:101961800:T:A	S255R	0.959
11:101961800:T:G	S255R	0.959
11:101944369:T:G	F118C	0.957
11:101922723:G:C	A71P	0.956

dbSNP variants (sampled 300 via entrez): RS1000004637 (11:101971896 C>A), RS1000061786 (11:101968194 G>A,C,T), RS1000073069 (11:101988990 T>C), RS1000133198 (11:101989311 G>C), RS1000246717 (11:101985572 C>T), RS1000313105 (11:101963375 A>G), RS1000376199 (11:101995085 C>T), RS1000406529 (11:101947266 T>C), RS1000417287 (11:101992172 G>A), RS1000417800 (11:101953863 A>G), RS1000457947 (11:101976199 C>A,G), RS1000478001 (11:101982267 A>C), RS1000498175 (11:101929866 T>C), RS1000511439 (11:101976397 G>A,C), RS1000613585 (11:101973041 T>C)

Disease associations

OMIM: gene MIM:614634 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

10 total (10 of 10 shown, HPO-id order):

HPO	Term
HP:0001324	Muscle weakness
HP:0001337	Tremor
HP:0002380	Fasciculations
HP:0002398	Degeneration of anterior horn cells
HP:0002715	Abnormality of the immune system
HP:0002817	Abnormality of the upper limb
HP:0003134	Abnormality of peripheral nerve conduction
HP:0003457	EMG abnormality
HP:0007149	Distal upper limb amyotrophy
HP:0100022	Abnormality of movement

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002408_13	Response to methotrexate in juvenile idiopathic arthritis	1.000000e-06
GCST005336_5	Systemic sclerosis	4.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	8
trichostatin A	affects cotreatment, increases expression	3
belinostat	increases expression, affects cotreatment	2
Air Pollutants	increases expression, decreases expression, increases abundance	2
Nickel	decreases expression	2
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases methylation	1
hydroxyhydroquinone	increases expression	1
3,4-dichloroaniline	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
butylbenzyl phthalate	increases expression	1
pentanal	decreases expression	1
entinostat	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
dorsomorphin	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Vorinostat	affects cotreatment, increases expression	1
Carbamazepine	affects expression	1
Diuron	decreases expression	1
Lead	affects expression	1
Smoke	increases expression, increases abundance	1
Thimerosal	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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