CEP63

Summary

CEP63 (centrosomal protein 63, HGNC:25815) is a protein-coding gene on chromosome 3q22.2, encoding Centrosomal protein of 63 kDa (Q96MT8). Required for normal spindle assembly.

This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined.

Source: NCBI Gene 80254 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Seckel syndrome 6 (Strong, GenCC)
• GWAS associations: 25 (top 5% of genes corpus-wide)
• Clinical variants (ClinVar): 540 total — 24 pathogenic, 19 likely-pathogenic (top 6% of genes corpus-wide)
• GTEx eGene: eQTL in 47 tissues, sQTL in 50 (q < 0.05)
• Phenotypes (HPO): 30
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.13 (unconstrained)
• MANE Select transcript: NM_001353108

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25815
Approved symbol	CEP63
Name	centrosomal protein 63
Location	3q22.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13386
Ensembl gene	ENSG00000182923
Ensembl biotype	protein_coding
OMIM	614724
Entrez	80254

Gene structure

Transcript identifiers

Ensembl transcripts: 101 — 75 protein_coding, 18 nonsense_mediated_decay, 7 retained_intron, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000675561

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 4, TSL 3: 4, TSL 4: 2, TSL 5: 2

ENST00000675561, ENST00000332047, ENST00000354446, ENST00000383229, ENST00000504013, ENST00000504929, ENST00000508778, ENST00000510625, ENST00000511574, ENST00000512894, ENST00000513295, ENST00000513612, ENST00000514678, ENST00000606977, ENST00000620544, ENST00000650279, ENST00000682007, ENST00000682013, ENST00000682042, ENST00000682072, ENST00000682111, ENST00000682190, ENST00000682316, ENST00000682388, ENST00000682402, ENST00000682458, ENST00000682593, ENST00000682670, ENST00000682685, ENST00000682689, ENST00000682717, ENST00000682800, ENST00000682822, ENST00000682858, ENST00000682937, ENST00000682954, ENST00000683019, ENST00000683118, ENST00000683138, ENST00000683177, ENST00000683190, ENST00000683245, ENST00000683556, ENST00000683596, ENST00000683608, ENST00000683732, ENST00000683861, ENST00000683931, ENST00000683940, ENST00000683949, ENST00000683997, ENST00000684060, ENST00000684170, ENST00000684217, ENST00000684256, ENST00000684411, ENST00000684481, ENST00000684492, ENST00000684574, ENST00000684588, ENST00000684677, ENST00000684777, ENST00000891598, ENST00000891599, ENST00000891600, ENST00000891601, ENST00000891602, ENST00000891603, ENST00000891604, ENST00000924588, ENST00000924589, ENST00000924590, ENST00000924591, ENST00000948198, ENST00000948199, ENST00000948200, ENST00000948201, ENST00000948202, ENST00000948203, ENST00000948204, ENST00001002279, ENST00001002280, ENST00001045445, ENST00001045446, ENST00001045447, ENST00001045448, ENST00001045449, ENST00001045450, ENST00001045451, ENST00001045452, ENST00001045453, ENST00001045454, ENST00001045455, ENST00001045456, ENST00001064391, ENST00001097255, ENST00001113989, ENST00001113990, ENST00001113991, ENST00001118769, ENST00001145202

RefSeq mRNA: 20 — MANE Select: NM_001353108 NM_001042383, NM_001042384, NM_001042400, NM_001353108, NM_001353109, NM_001353110, NM_001353111, NM_001353112, NM_001353113, NM_001353117, NM_001353118, NM_001353119, NM_001353120, NM_001353121, NM_001353122, NM_001353123, NM_001353124, NM_001353125, NM_001353126, NM_025180

CCDS: CCDS3086, CCDS43152, CCDS43153, CCDS43154, CCDS93388, CCDS93389, CCDS93392

Canonical transcript exons

ENST00000675561 — 15 exons

Exon	Start	End
ENSE00001291043	134547335	134547472
ENSE00001296631	134558142	134558347
ENSE00001296774	134545586	134545819
ENSE00001307112	134537155	134537268
ENSE00001310297	134551926	134552012
ENSE00001317797	134559150	134559429
ENSE00001318321	134546149	134546288
ENSE00001319107	134549062	134549176
ENSE00001330563	134532778	134532900
ENSE00002056362	134486057	134486202
ENSE00003480774	134531845	134531940
ENSE00003614136	134495296	134495364
ENSE00003669073	134507109	134507286
ENSE00003680320	134550063	134550260
ENSE00003698058	134561377	134565031

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 95.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.0978 / max 617.2054, expressed in 1801 samples.

Highest expression (Bgee): calcaneal tendon, colonic epithelium, cortical plate, sural nerve, tendon.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CEP63 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 47 tissues and its splicing (sQTL) in 50 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 97 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Muscle Skeletal	sqtl	2.8e-244	-3.64	3:134501479:A:T
Artery Tibial	sqtl	2.1e-185	-3.43	3:134501479:A:T
Cells Cultured fibroblasts	sqtl	1.1e-154	-3.62	3:134501479:A:T
Adipose Subcutaneous	sqtl	7.3e-140	-3.56	3:134501479:A:T
Thyroid	sqtl	6.1e-124	-3.32	3:134501479:A:T
Whole Blood	sqtl	9.0e-117	-3.29	3:134501479:A:T
Skin Sun Exposed Lower leg	sqtl	1.6e-114	-3.29	3:134501479:A:T
Adipose Visceral Omentum	sqtl	2.1e-111	-3.43	3:134501479:A:T
Esophagus Muscularis	sqtl	2.7e-107	-3.44	3:134501479:A:T
Nerve Tibial	sqtl	2.5e-106	-3.57	3:134501479:A:T
Esophagus Mucosa	sqtl	1.7e-99	-3.32	3:134501479:A:T
Skin Not Sun Exposed Suprapubic	sqtl	8.2e-87	-3.58	3:134501479:A:T
Lung	sqtl	9.5e-82	-3.36	3:134501479:A:T
Colon Transverse	sqtl	1.0e-79	-3.28	3:134501479:A:T
Artery Tibial	eqtl	1.7e-75	+0.43	3:134479577:A:G
Nerve Tibial	eqtl	4.0e-68	+0.56	3:134494696:C:T
Testis	sqtl	2.9e-67	-1.17	3:134517607:C:T
Breast Mammary Tissue	sqtl	9.3e-67	-3.52	3:134501479:A:T
Adipose Subcutaneous	eqtl	7.8e-66	+0.53	3:134486603:ACCTT:A
Artery Aorta	sqtl	1.7e-61	-3.49	3:134501479:A:T

FANTOM5 promoters

9 alternative TSS:

Promoter ID	TPM avg	Samples expressed
38708	6.1514	1676
38712	4.6554	1510
38710	3.6190	1353
38711	1.9293	1045
38709	1.2140	562
38714	0.8203	195
38715	0.7917	279
38713	0.5758	232
38716	0.3409	116

Top tissues by expression

showing 100 of 287 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	95.54	gold quality
colonic epithelium	UBERON:0000397	93.01	gold quality
cortical plate	UBERON:0005343	92.99	gold quality
sural nerve	UBERON:0015488	92.94	gold quality
tendon	UBERON:0000043	91.93	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.74	gold quality
monocyte	CL:0000576	91.59	gold quality
left testis	UBERON:0004533	91.49	gold quality
gastrocnemius	UBERON:0001388	91.43	gold quality
mononuclear cell	CL:0000842	91.38	gold quality
ganglionic eminence	UBERON:0004023	91.36	gold quality
muscle of leg	UBERON:0001383	91.30	gold quality
leukocyte	CL:0000738	91.14	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.02	gold quality
right testis	UBERON:0004534	90.92	gold quality
blood	UBERON:0000178	90.89	gold quality
testis	UBERON:0000473	90.82	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.32	gold quality
bone marrow cell	CL:0002092	90.13	gold quality
popliteal artery	UBERON:0002250	90.06	gold quality
tibial artery	UBERON:0007610	90.06	gold quality
cartilage tissue	UBERON:0002418	89.61	gold quality
muscle organ	UBERON:0001630	89.51	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	89.36	gold quality
biceps brachii	UBERON:0001507	89.31	gold quality
right atrium auricular region	UBERON:0006631	89.14	gold quality
tibia	UBERON:0000979	89.09	gold quality
islet of Langerhans	UBERON:0000006	88.84	gold quality
aorta	UBERON:0000947	88.46	gold quality
cardiac atrium	UBERON:0002081	88.44	gold quality
heart left ventricle	UBERON:0002084	88.36	gold quality
cardiac ventricle	UBERON:0002082	88.16	gold quality
ventricular zone	UBERON:0003053	88.12	gold quality
bone marrow	UBERON:0002371	88.10	gold quality
body of pancreas	UBERON:0001150	88.06	gold quality
heart	UBERON:0000948	87.98	gold quality
pancreas	UBERON:0001264	87.93	gold quality
heart right ventricle	UBERON:0002080	87.86	gold quality
descending thoracic aorta	UBERON:0002345	87.62	gold quality
right coronary artery	UBERON:0001625	87.52	gold quality
trabecular bone tissue	UBERON:0002483	87.20	gold quality
subcutaneous adipose tissue	UBERON:0002190	87.18	gold quality
left coronary artery	UBERON:0001626	87.10	gold quality
tendon of biceps brachii	UBERON:0008188	87.08	gold quality
parotid gland	UBERON:0001831	86.98	gold quality
apex of heart	UBERON:0002098	86.88	gold quality
granulocyte	CL:0000094	86.73	gold quality
coronary artery	UBERON:0001621	86.56	gold quality
rectum	UBERON:0001052	86.51	gold quality
thoracic aorta	UBERON:0001515	86.51	gold quality
ascending aorta	UBERON:0001496	86.46	gold quality
tibial nerve	UBERON:0001323	86.44	gold quality
connective tissue	UBERON:0002384	86.34	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	86.20	gold quality
adipose tissue	UBERON:0001013	86.17	gold quality
muscle layer of sigmoid colon	UBERON:0035805	85.92	gold quality
skeletal muscle tissue	UBERON:0001134	85.89	gold quality
tonsil	UBERON:0002372	85.77	gold quality
lower esophagus muscularis layer	UBERON:0035833	85.72	gold quality
lower esophagus	UBERON:0013473	85.69	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	85.50	gold quality
skin of abdomen	UBERON:0001416	85.38	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	85.34	gold quality
adipose tissue of abdominal region	UBERON:0007808	85.29	gold quality
minor salivary gland	UBERON:0001830	85.27	gold quality
periodontal ligament	UBERON:0008266	85.26	gold quality
omental fat pad	UBERON:0010414	85.25	gold quality
urinary bladder	UBERON:0001255	85.24	gold quality
skin of leg	UBERON:0001511	85.24	gold quality
mucosa of stomach	UBERON:0001199	85.22	gold quality
peritoneum	UBERON:0002358	85.22	gold quality
left ovary	UBERON:0002119	85.15	gold quality
saliva-secreting gland	UBERON:0001044	85.08	gold quality
muscle tissue	UBERON:0002385	85.04	gold quality
cauda epididymis	UBERON:0004360	84.99	gold quality
ectocervix	UBERON:0012249	84.98	gold quality
cranial nerve II	UBERON:0000941	84.92	gold quality
zone of skin	UBERON:0000014	84.81	gold quality
multicellular organism	UBERON:0000468	84.76	gold quality
material anatomical entity	UBERON:0000465	84.75	gold quality
anatomical system	UBERON:0000467	84.75	gold quality
parietal pleura	UBERON:0002400	84.67	gold quality
lymph node	UBERON:0000029	84.62	gold quality
smooth muscle tissue	UBERON:0001135	84.62	gold quality
caput epididymis	UBERON:0004358	84.59	gold quality
right ovary	UBERON:0002118	84.56	gold quality
stromal cell of endometrium	CL:0002255	84.52	gold quality
prefrontal cortex	UBERON:0000451	84.48	gold quality
left adrenal gland	UBERON:0001234	84.48	gold quality
corpus epididymis	UBERON:0004359	84.38	gold quality
ovary	UBERON:0000992	84.37	gold quality
right lung	UBERON:0002167	84.35	gold quality
deltoid	UBERON:0001476	84.34	gold quality
spinal cord	UBERON:0002240	84.32	gold quality
left adrenal gland cortex	UBERON:0035825	84.30	gold quality
esophagus	UBERON:0001043	84.27	gold quality
embryo	UBERON:0000922	84.26	gold quality
myocardium	UBERON:0002349	84.22	gold quality
right adrenal gland	UBERON:0001233	84.20	gold quality
endocervix	UBERON:0000458	84.19	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.09
E-MTAB-6379	no	224.93

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Cerebellum	tissue	49.6	medium
Putamen	tissue	47.0
Olfactory bulb	tissue	37.8
Corpus callosum	tissue	37.5
Basal ganglia	tissue	36.7	medium
Skeletal muscle	tissue	35.6	low
Ventral forebrain	tissue	35.2
Testis	tissue	33.4	medium
Hippocampal formation	tissue	32.5
Cerebral cortex	tissue	32.3	medium
Occipital cortex	tissue	32.3
Septum	tissue	31.4
Motor cortex	tissue	30.8
Prefrontal cortex	tissue	30.2
Retrosplenial cortex	tissue	29.8
Substantia nigra	tissue	29.7
Entorhinal cortex	tissue	29.2
Somatosensory cortex	tissue	28.9
Amygdala	tissue	28.7
Retrosplenial and cingulate cortex	tissue	28.4
Temporal cortex	tissue	27.6
Insular cortex	tissue	27.6
Periaqueductal gray	tissue	26.3
Midbrain	tissue	25.8
Tongue	tissue	25.4
Thalamus	tissue	25.4
Hypothalamus	tissue	25.4
Spinal cord	tissue	25.2
Medulla oblongata	tissue	25.1
Pons	tissue	24.8
Thymus	tissue	23.8
Heart muscle	tissue	23.4	medium
Superior colliculi	tissue	23.2
Postcentral gyrus	tissue	20.4
Caudate putamen	tissue	20.4
Bone marrow	tissue	20.1	not detected
Adipose tissue	tissue	19.5	not detected
Liver	tissue	18.9	medium
Choroid plexus	tissue	17.3
Thyroid gland	tissue	16.8	low
Locus coeruleus	tissue	16.5
Parathyroid gland	tissue	15.9
Tonsil	tissue	15.9	not detected
Retina	tissue	15.5
Nucleus accumbens	tissue	15.0
Hippocampus	tissue	15.0	medium
Lymph node	tissue	14.2	not detected
Pancreas	tissue	14.0	low
Salivary gland	tissue	13.9	low
Frontal cortex	tissue	13.9
Seminal vesicle	tissue	13.8	not detected
Kidney	tissue	13.3	medium
Spleen	tissue	12.8	low
Breast	tissue	12.7	not detected
Rectum	tissue	12.5	medium
Adrenal gland	tissue	12.5	medium
Prostate	tissue	12.1	medium
Ovary	tissue	12.0	low
Epididymis	tissue	11.9	not detected
Placenta	tissue	11.9	low

Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — White matter (37.5), Dorsal hippocampus (32.5), Subiculum (27.6), Ventral hippocampus (26.7), Dorsal spinal cord (25.2).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CEP63 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 120 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-6077	99.99	68.04	2299
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163

Functional genomics

gnomAD constraint: pLI 2.29e-17, LOEUF 1.13, missense Z -0.158 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000675561 — one region, missense o/e 1.03.

Literature-anchored findings (GeneRIF, showing 14)

• CEP63 transcripts exhibited three different expression patterns, downregulation was found in about 50% of the cases analyzed and CEP63 gene transcription was associated with invasive tumors. (PMID:16410684)
• Findings define Cep63 as a centrosomal recruitment factor for Cdk1 that is essential for mitotic entry, providing a physical link between the centrosome and the cell-cycle machinery. (PMID:21406398)
• One new SNP (rs112926188) in CEP63O was reported. Analysis showed that rs112926188 allele substituting proline at the 61st residue position of CEP63 produced more flexibility in three-deimensional space. (PMID:22555018)
• Cep57, Cep63, and Cep152 are parts of a ring-like complex localizing around the proximal end of centrioles. (PMID:23333316)
• both mouse and human Cep63 and Cep152 cooperate to ensure efficient centriole duplication by promoting the accumulation of essential centriole duplication factors upstream of SAS-6 recruitment and procentriole formation. (PMID:23936128)
• centrosomal Cdk1 signals were strongly diminished in cells treated with Cep63 siRNA when sc-54 was used for Cdk1 labeling (PMID:25643699)
• CEP63 is particularly important for brain development and might control the proliferation and migration of cells when those two events need to be highly coordinated. (PMID:26400686)
• Study shows that Cep63 and Cep152 cooperatively generate a heterotetrameric alpha-helical bundle that functions in conjunction with its neighboring hydrophobic motifs to self-assemble into a higher-order cylindrical architecture capable of recruiting downstream components, including Plk4, a key regulator for centriole duplication. Mutations disrupting the self-assembly abrogate Plk4-mediated centriole duplication. (PMID:30858376)
• Requirement of the Cep57-Cep63 Interaction for Proper Cep152 Recruitment and Centriole Duplication. (PMID:32152252)
• CCDC57 Cooperates with Microtubules and Microcephaly Protein CEP63 and Regulates Centriole Duplication and Mitotic Progression. (PMID:32402286)
• [Study on Cep63 expression and apoptosis of thyroid papillary carcinoma cell lines TPC-1]. (PMID:33472304)
• Polymorphism in miRNA target sites of CEP-63 and CEP-152 ring complex influences expression of CEP genes and favors tumorigenesis in glioma. (PMID:34156311)
• Cep63 knockout inhibits the malignant phenotypes of papillary thyroid cancer cell line TPC1. (PMID:34296302)
• CEP63 upregulates YAP1 to promote colorectal cancer progression through stabilizing RNA binding protein FXR1. (PMID:35989368)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cep63	ENSDARG00000056862
mus_musculus	Cep63	ENSMUSG00000032534
rattus_norvegicus	Cep63	ENSRNOG00000008410

Paralogs (2): CCDC18 (ENSG00000122483), DEUP1 (ENSG00000165325)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2158560) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 35 distinct phenotype terms.

Mouse phenotype (MP)	Records
microcephaly	1
abnormal cerebral cortex morphology	1
small testis	1
small seminiferous tubules	1
abnormal spermatogenesis	1
decreased body length	1
decreased body weight	1
abnormal vocalization	1
postnatal growth retardation	1
male infertility	1
testis hypoplasia	1
abnormal retina outer nuclear layer morphology	1
abnormal retina inner nuclear layer morphology	1
abnormal bone structure	1
abnormal testis development	1
polyploidy	1
abnormal mitosis	1
decreased testis weight	1
decreased neuronal precursor cell number	1
azoospermia	1
abnormal male meiosis	1
decreased oocyte number	1
thin cerebral cortex	1
abnormal spermatogonia morphology	1
abnormal spermatocyte morphology	1

+10 more (showing top 25).

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Xenopus laevis	B9V5F5	98.2%	Diamond
Macaca fascicularis	Q4R703	95.2%	Diamond
Pongo abelii	Q5NVN6	75.1%	Diamond
Gallus gallus	P0CB05	54.8%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
MIR4788	ncRNA	100616281
MIR6827	ncRNA	102466744
ANAPC13	protein-coding	25847
AMOTL2	protein-coding	51421
KY	protein-coding	339855
EPHB1	protein-coding	2047

Protein

Protein identifiers

Centrosomal protein of 63 kDa — Q96MT8 (reviewed: Q96MT8)

All UniProt accessions (26): A0A3B3IT05, A0A804HHU4, A0A804HI22, A0A804HI78, A0A804HIX3, A0A804HJ63, A0A804HJ73, A0A804HJF1, A0A804HJF9, A0A804HJI5, A0A804HJP1, A0A804HJT2, Q96MT8, A0A804HK67, A0A804HKF0, A0A804HKH7, A0A804HKK0, A0A804HKM0, A0A804HKQ7, A0A804HKR1, A0A804HL17, D6R9Q4, D6RAY6, H0Y900, H0YAE6, H0YAL1

UniProt curated annotations — full annotation on UniProt →

Function. Required for normal spindle assembly. Plays a key role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication. Reported to be required for centrosomal recruitment of CEP152; however, this function has been questioned. Also recruits CDK1 to centrosomes. Plays a role in DNA damage response. Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to the inactivation of spindle assembly and delay in mitotic progression. Promotes stabilization of FXR1 protein by inhibiting FXR1 ubiquitination.

Subunit / interactions. Interacts with CEP152 and CDK1; these interactions recruit both ligands to centrosomes. Interacts with CDK2, CDK5RAP2, WDR62, CEP90, KIAA0753/moonraker and CCDC14. CEP63, CDK5RAP2, CEP152, WDR62 are proposed to form a stepwise assembled complex at the centrosome forming a ring near parental centrioles. Interacts with CCDC57; the interaction is required for their location to proximal end of centrioles. Interacts with FXR1; promoting its stabilization. (Microbial infection) Interacts with zika virus serine protease NS3; this interaction disorganizes the centrosome.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Centriolar satellite.

Post-translational modifications. Polyubiquitinated via ‘Lys-48’-linked ubiquitin, leading to its degradation. Deubiquitinated by USP36, promoting its stabilization.

Disease relevance. Seckel syndrome 6 (SCKL6) [MIM:614728] A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. CEP63 and DEUP1 paralogs are both involved in centriole amplification: while CEP63 mediates mother-centriole-dependent centriole duplication, DEUP1 mediates de novo centriole amplification in multiciliated cells.

Similarity. Belongs to the CEP63 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q96MT8-1	1	yes
Q96MT8-2	2
Q96MT8-3	3
Q96MT8-4	4

RefSeq proteins (20): NP_001035842, NP_001035843, NP_001035859, NP_001340037, NP_001340038, NP_001340039, NP_001340040, NP_001340041, NP_001340042, NP_001340046, NP_001340047, NP_001340048, NP_001340049, NP_001340050, NP_001340051, NP_001340052, NP_001340053, NP_001340054, NP_001340055, NP_079456 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031470	CEP63/Deup1_N	Domain
IPR057656	CEP63/Deup1_CC	Domain

Pfam: PF17045, PF25771

UniProt features (15 total): coiled-coil region 4, splice variant 4, helix 2, modified residue 2, chain 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

4 structures by resolution:

PDB	Title	Method	Resolution (Å)
6CSU	The structure of the Cep63-Cep152 heterotetrameric complex	X-RAY DIFFRACTION	2.5
6CSV	The structure of the Cep63-Cep152 heterotetrameric complex	X-RAY DIFFRACTION	2.5
9I7Q	The structure of the Cep57-N.Cep63-N complex	X-RAY DIFFRACTION	2.9
7W91	Residues 440-490 of centrosomal protein 63	X-RAY DIFFRACTION	3.29

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96MT8-F1	77.95	0.59

Human Protein Atlas

Protein class: Predicted intracellular proteins, Disease related genes, Human disease related genes, Congenital malformations, Other congenital malformations

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): basal body; centrosome; cytosol; nucleoplasm

Antibody reliability (HPA): IH approved · IF supported

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 (2)

Type	Positions
N-acetylmethionine	1
Phosphoserine	278

Function

Pathways and Gene Ontology

Reactome pathways

7 curated (TAS) of 16; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

16 pathways:

ID	Pathway	Evidence
R-HSA-8854518	AURKA Activation by TPX2	curated
R-HSA-5620912	Anchoring of the basal body to the plasma membrane	curated
R-HSA-380259	Loss of Nlp from mitotic centrosomes	curated
R-HSA-380284	Loss of proteins required for interphase microtubule organization from the centrosome	curated
R-HSA-380320	Recruitment of NuMA to mitotic centrosomes	curated
R-HSA-380270	Recruitment of mitotic centrosome proteins and complexes	curated
R-HSA-2565942	Regulation of PLK1 Activity at G2/M Transition	curated
R-HSA-1640170	Cell Cycle	—
R-HSA-69278	Cell Cycle, Mitotic	—
R-HSA-380287	Centrosome maturation	—
R-HSA-5617833	Cilium Assembly	—
R-HSA-69275	G2/M Transition	—
R-HSA-68886	M Phase	—
R-HSA-453274	Mitotic G2-G2/M phases	—
R-HSA-68877	Mitotic Prometaphase	—
R-HSA-1852241	Organelle biogenesis and maintenance	—

MSigDB gene sets: 241 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_NEGATIVE_REGULATION_OF_INNATE_IMMUNE_RESPONSE, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_CENTRIOLE_ASSEMBLY, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_PROTEIN_STABILIZATION, GOBP_REGULATION_OF_CELL_CYCLE, GOCC_CENTROSOME, GOBP_REGULATION_OF_RESPONSE_TO_STRESS

GO Biological Process (11): DNA damage checkpoint signaling (GO:0000077), centriole replication (GO:0007099), signal transduction in response to DNA damage (GO:0042770), negative regulation of innate immune response (GO:0045824), protein stabilization (GO:0050821), spindle assembly (GO:0051225), cell division (GO:0051301), de novo centriole assembly involved in multi-ciliated epithelial cell differentiation (GO:0098535), negative regulation of protein K63-linked ubiquitination (GO:1900045), DNA damage response (GO:0006974), centrosome duplication (GO:0051298)

GO Molecular Function (2): molecular adaptor activity (GO:0060090), protein binding (GO:0005515)

GO Cellular Component (6): spindle pole (GO:0000922), centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064)

Reactome top-level categories

10 top-level categories:

Category	Pathways
G2/M Transition	3
Centrosome maturation	2
Cell Cycle, Mitotic	2
Loss of proteins required for interphase microtubule organization from the centrosome	1
Mitotic Prometaphase	1
Assembly of the 9+0 primary cilium	1
Organelle biogenesis and maintenance	1
M Phase	1
Mitotic G2-G2/M phases	1
Cell Cycle	1

GO top-level categories

35 GO namespaces:

Category	Terms
cellular anatomical structure	3
microtubule organizing center	3
cell cycle process	2
binding	2
DNA integrity checkpoint signaling	1
signal transduction in response to DNA damage	1
centrosome duplication	1
centriole assembly	1
DNA damage response	1
intracellular signal transduction	1
negative regulation of response to biotic stimulus	1
negative regulation of defense response	1
negative regulation of response to external stimulus	1
innate immune response	1
regulation of innate immune response	1
negative regulation of immune response	1
regulation of protein stability	1
spindle organization	1
chromosome segregation	1
membraneless organelle assembly	1
cellular process	1
de novo centriole assembly	1
multi-ciliated epithelial cell differentiation	1
protein K63-linked ubiquitination	1
regulation of protein K63-linked ubiquitination	1
negative regulation of protein polyubiquitination	1
cellular response to stress	1
centrosome cycle	1
molecular_function	1
spindle	1
centriole	1
intracellular membraneless organelle	1
cytoplasm	1
centrosome	1
cilium	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 7 of 19 annotations. The rest are phylogenetic / computational / electronic (IEA).

7 experimentally-supported GO terms:

GO term	NS	Evidence
centriole replication	BP	mutant phenotype
negative regulation of innate immune response	BP	direct assay
negative regulation of protein K63-linked ubiquitination	BP	direct assay
protein stabilization	BP	direct assay
centrosome	CC	direct assay
ciliary basal body	CC	direct assay
molecular adaptor activity	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 1,538 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEP63	PLK4	O00444	813
CEP63	STIL	Q15468	811
CEP63	CEP152	O94986	803
CEP63	CPAP	Q9HC77	793
CEP63	SASS6	Q6UVJ0	788
CEP63	WDR62	O43379	764
CEP63	CEP135	Q66GS9	762
CEP63	CEP192	Q8TEP8	760
CEP63	CEP57	Q86XR8	702
CEP63	CEP120	Q8N960	694
CEP63	CCP110	O43303	693
CEP63	ASPM	Q8IZT6	692
CEP63	PCNT	O95613	686
CEP63	CCDC14	Q49A88	682
CEP63	CDK5RAP2	Q96SN8	675

IntAct

Human interaction partners of CEP63 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

showing 30 of 48 partners by confidence:

Partner	Interaction type	MIscore	Records
PIBF1	physical association	0.760	3
DTNB	physical association	0.740	5
TBC1D15	physical association	0.740	4
CEP57	physical association	0.740	3
CCDC14	physical association	0.710	3
EZH2	physical association	0.670	5
ALOX5	physical association	0.670	4
SMARCE1	physical association	0.670	4
SSX3	physical association	0.670	4
TXLNB	physical association	0.670	3
HAUS1	physical association	0.660	3
TANK	physical association	0.660	3
TXLNA	physical association	0.660	3
DISC1	physical association	0.630	8
CEP57L1	physical association	0.560	6
ARFIP2	physical association	0.560	3
DZIP3	physical association	0.560	3
FAM161A	physical association	0.560	3
FBF1	physical association	0.560	3
NXT2	physical association	0.560	3
POLR3C	physical association	0.560	3
SYT17	physical association	0.560	3
TSHZ3	physical association	0.560	3
ZCCHC10	physical association	0.560	3
NPM1	physical association	0.560	1
KXD1	physical association	0.550	1
NUFIP2	physical association	0.500	1
AP2M1	physical association	0.400	1
HTT	physical association	0.370	1
MBIP	physical association	0.370	1

BioGRID (264 interactions; top human partners by supporting records): CCDC14 (Proximity Label-MS; 7 records), CEP152 (Proximity Label-MS; 5 records), CEP57 (Two-hybrid; 4 records), KIAA0753 (Proximity Label-MS; 4 records), TBC1D15 (Two-hybrid; 4 records), TXLNB (Two-hybrid; 4 records), ALOX5 (Two-hybrid; 3 records), CDK1 (Affinity Capture-Western; 3 records), CEP128 (Proximity Label-MS; 3 records), CEP192 (Proximity Label-MS; 3 records), DISC1 (Two-hybrid; 3 records), DTNB (Two-hybrid; 3 records), OFD1 (Proximity Label-MS; 3 records), PCM1 (Proximity Label-MS; 3 records), PIBF1 (Proximity Label-MS; 3 records)

SIGNOR signaling

2 signaling interactions:

A	Effect	B	Mechanism
CDK5RAP2	“up-regulates activity”	CEP63	relocalization
CEP63	“up-regulates activity”	CDK2	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 48 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.

GO biological processes:

GO term	Partners	Fold	FDR
cilium assembly	6	10.5×	7e-03

Disease & clinical

Genetic variants

Variant evidence for CEP63: 540 ClinVar records (43 pathogenic / likely pathogenic); 25 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	24
Likely pathogenic	19
Uncertain significance	258
Likely benign	130
Benign	59

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 43 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
977835	NM_001353108.3(CEP63):c.790-2A>G	Likely pathogenic	criteria provided, multiple submitters, no conflicts	3
2171890	NM_001353108.3(CEP63):c.1067+2T>C	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
1206034	NM_001353108.3(CEP63):c.990del (p.Asp330fs)	Pathogenic	criteria provided, single submitter	3
402246	NM_178554.6(KY):c.51_52insTATCGACATGTGCTGTATCTATCGACAT (p.Val18fs)	Pathogenic	criteria provided, single submitter	2
520721	NM_001353108.3(CEP63):c.448del (p.Arg150fs)	Pathogenic	criteria provided, single submitter	1
1380648	NM_001353108.3(CEP63):c.1722C>A (p.Tyr574Ter)	Pathogenic	criteria provided, single submitter	1
1441092	NM_001353108.3(CEP63):c.577C>T (p.Gln193Ter)	Pathogenic	criteria provided, single submitter	1
1453008	NM_001353108.3(CEP63):c.1189G>T (p.Glu397Ter)	Pathogenic	criteria provided, single submitter	1
1905565	NM_001353108.3(CEP63):c.880C>T (p.Gln294Ter)	Pathogenic	criteria provided, single submitter	1
1924575	NM_001353108.3(CEP63):c.1608dup (p.Gln537fs)	Pathogenic	criteria provided, single submitter	1
2019176	NM_001353108.3(CEP63):c.240del (p.Gln80fs)	Pathogenic	criteria provided, single submitter	1
2096488	NM_001353108.3(CEP63):c.1473del (p.Glu492fs)	Pathogenic	criteria provided, single submitter	1
2143588	NM_001353108.3(CEP63):c.538C>T (p.Gln180Ter)	Pathogenic	criteria provided, single submitter	1
2581449	NM_178554.6(KY):c.481C>T (p.Gln161Ter)	Pathogenic	criteria provided, single submitter	1
2581612	NM_001353108.3(CEP63):c.490C>T (p.Gln164Ter)	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore CEP63’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 33 predictions of 1,466):

Position(s)	Effect	Δscore	Sites
3:134495294–134495295	acceptor_loss	1.0000	6
3:134507107–134507108	acceptor_loss	1.0000	6
3:134507287–134507288	donor_loss	1.0000	5
3:134531843–134531844	acceptor_loss	1.0000	5
3:134531941–134531942	donor_loss	1.0000	5
3:134532470	donor_gain	1.0000
3:134546144	acceptor_gain	1.0000
3:134549052	acceptor_gain	1.0000
3:134549057–134549059	acceptor_gain	1.0000	2
3:134549174	donor_gain	1.0000

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

4 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	0.000102
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	0.000384
Pancreatic Adenocarcinoma (validation)	unfavorable	0.000624
Kidney Chromophobe (TCGA)	unfavorable	0.000927

Disease associations

OMIM: gene MIM:614724 | disease phenotypes: MIM:614728, MIM:617114, MIM:303350

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
Seckel syndrome 6	Strong	Autosomal recessive	3

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (6 panels, 2 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

6 panels:

Panel	Rating
DDG2P	green
Fetal anomalies	green
Hypotonic infant	amber
Intellectual disability	amber
Leukodystrophy, childhood onset	amber
Paediatric disorders	amber

Mondo (3): Seckel syndrome 6 (MONDO:0013871), myofibrillar myopathy 7 (MONDO:0014922), hereditary spastic paraplegia (MONDO:0019064)

Orphanet (1): Hereditary spastic paraplegia (Orphanet:685)

HPO phenotypes

30 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000275	Narrow face
HP:0000347	Micrognathia
HP:0000363	Abnormal earlobe morphology
HP:0000387	Absent earlobe
HP:0000444	Convex nasal ridge
HP:0000494	Downslanted palpebral fissures
HP:0000501	Glaucoma
HP:0000682	Abnormal dental enamel morphology
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001363	Craniosynostosis
HP:0001382	Joint hypermobility
HP:0001385	Hip dysplasia
HP:0001511	Intrauterine growth retardation
HP:0001852	Sandal gap
HP:0002209	Sparse scalp hair
HP:0002650	Scoliosis
HP:0002750	Delayed skeletal maturation
HP:0003577	Congenital onset
HP:0004209	Clinodactyly of the 5th finger
HP:0004322	Short stature
HP:0004326	Cachexia
HP:0007495	Prematurely aged appearance
HP:0009804	Tooth agenesis
HP:0010579	Cone-shaped epiphysis
HP:0011342	Mild global developmental delay
HP:0011451	Primary microcephaly
HP:0100543	Cognitive impairment

GWAS associations

25 associations:

Study	Trait	p-value
GCST004501_70	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	7e-13
GCST004500_4	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	1e-12
GCST004504_71	Waist circumference adjusted for BMI in non-smokers	2e-12
GCST004063_38	Waist circumference adjusted for body mass index	2e-11
GCST004564_233	Waist circumference adjusted for BMI in active individuals	4e-10
GCST004562_14	Waist circumference adjusted for body mass index	1e-9
GCST004563_206	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	2e-9
GCST004564_231	Waist circumference adjusted for BMI in active individuals	4e-9
GCST004562_217	Waist circumference adjusted for body mass index	9e-9
GCST004500_37	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	2e-8
GCST004563_32	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	2e-8
GCST012227_1213	Hip circumference adjusted for BMI	3e-8
GCST000174_11	Height	7e-8
GCST004504_72	Waist circumference adjusted for BMI in non-smokers	2e-7
GCST004501_71	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	4e-7
GCST004500_110	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	6e-7
GCST004063_33	Waist circumference adjusted for body mass index	8e-7
GCST004501_26	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	8e-7
GCST004504_70	Waist circumference adjusted for BMI in non-smokers	9e-7
GCST004063_42	Waist circumference adjusted for body mass index	1e-6
GCST004407_3	Neurocognitive impairment in HIV-1 infection (dichotomous)	2e-6
GCST004564_232	Waist circumference adjusted for BMI in active individuals	2e-6
GCST003815_86	Late-onset Alzheimer’s disease	4e-6
GCST004562_92	Waist circumference adjusted for body mass index	4e-6
GCST004563_240	Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)	5e-6

EFO canonical traits (from GWAS)

6 canonical traits:

EFO ID	Trait name
EFO:1001870	late-onset Alzheimers disease
EFO:0007789	BMI-adjusted waist circumference
EFO:0007998	cognitive impairment measurement
EFO:0004318	smoking behavior
EFO:0008002	physical activity measurement
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
D015419	Spastic Paraplegia, Hereditary	C10.500.300.820; C10.574.500.495.820; C10.668.829.800.300.820; C16.131.666.300.820; C16.320.400.375.820

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, decreases expression, affects cotreatment, increases abundance	3
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance	2
Valproic Acid	affects expression, increases expression	2
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
beta-lapachone	increases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
Sunitinib	increases expression	1
Vorinostat	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Calcitriol	decreases expression, affects cotreatment	1
Dexamethasone	affects cotreatment, increases expression	1
Diuron	decreases expression	1
Doxorubicin	decreases expression	1
Hydrogen Peroxide	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
Smoke	decreases expression	1
Testosterone	affects cotreatment, decreases expression	1
Theophylline	decreases expression, affects cotreatment	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	increases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

55 trials:

NCT	Phase	Status	Title
NCT07542548	Phase 4	COMPLETED	D-Cycloserine for Serine Palmitoyltransferase Inhibition
NCT07803276	Phase 4	RECRUITING	Comparison Between Palpatory and Ultrasound-guided Methods for Botulinum Toxin Administration in Spastic Paraplegia
NCT03961906	Phase 2	COMPLETED	Physiotherapy in Hereditary Spastic Paraplegia
NCT04768166	Phase 2	COMPLETED	Testing Miglustat Administration in Subjects With Spastic Paraplegia 11
NCT06117020	Phase 1	COMPLETED	Single and Multiple Ascending Dose Study of MTR-601 in Healthy Individuals
NCT02604186	Phase 2/3	COMPLETED	Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia
NCT05518188	Phase 1/2	RECRUITING	Melpida: Recombinant Adeno-associated Virus (Serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
NCT06948019	Phase 1/2	NOT_YET_RECRUITING	Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)
NCT06478238	Early Phase 1	RECRUITING	Calcium Folinate Treatment of Spastic Paraplegia 56
NCT00023075	Not specified	COMPLETED	Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis
NCT00136630	Not specified	COMPLETED	Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
NCT00140829	Not specified	COMPLETED	SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
NCT00677768	Not specified	COMPLETED	Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS)
NCT01568658	Not specified	ACTIVE_NOT_RECRUITING	Genetic and Physical Study of Childhood Nerve and Muscle Disorders
NCT02327845	Not specified	ACTIVE_NOT_RECRUITING	Phenotype, Genotype & Biomarkers in ALS and Related Disorders
NCT02852278	Not specified	COMPLETED	A Patient Centric Motor Neuron Disease Activities of Daily Living Scale
NCT02859428	Not specified	TERMINATED	Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31
NCT03104088	Not specified	COMPLETED	Studying Cognition in SPG4
NCT03206190	Not specified	RECRUITING	The preSPG4 Study - Studying the Prodromal and Early Phase of SPG4
NCT03627416	Not specified	COMPLETED	Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy
NCT03981276	Not specified	RECRUITING	Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
NCT04006418	Not specified	RECRUITING	A Registered Cohort Study on Spastic Paraplegia
NCT04180098	Not specified	COMPLETED	Improving Gait Adaptability in Hereditary Spastic Paraplegia
NCT04256681	Not specified	COMPLETED	SNAP: Measurement of the Subjective Perception of the Symptom in Hereditary Spastic Paraparesis (HSP)
NCT04712812	Not specified	RECRUITING	Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia
NCT04875416	Not specified	ACTIVE_NOT_RECRUITING	Phenotype, Genotype and Biomarkers 2
NCT04912609	Not specified	COMPLETED	Trehalose Administration in Subjects With Spastic Paraplegia 11 (3AL-SPG11)
NCT05354622	Not specified	RECRUITING	Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
NCT05373082	Not specified	COMPLETED	Identification of Modifying Factors in Hereditary Spastic Paraplegia
NCT05411627	Not specified	WITHDRAWN	A Pilot Study of Shockwave Therapy in HSP
NCT05432999	Not specified	COMPLETED	Extracorporeal Shockwave Therapy for Spasticity in People With Spinal Cord Injury
NCT05613114	Not specified	COMPLETED	Effect of Dalfampridine in Patients With Hereditary Spastic Paraplegia
NCT05767268	Not specified	COMPLETED	Assessment of the Psychophysical State During Rehabilitation Treatment With Lokomat
NCT05848271	Not specified	RECRUITING	Natural History Study of Patients with HPDL Mutations
NCT06156813	Not specified	RECRUITING	Turkish Lower-Extremity Motor Activity Log (LE-MAL)
NCT06229626	Not specified	RECRUITING	Evaluation of an Intensive Training Program for Patients with Hereditary Spastic Paraparesis SPG4/Spast
NCT06260982	Not specified	UNKNOWN	Cognitive Disorders in Hereditary Spastic Paraplegia Type 4
NCT06553976	Not specified	RECRUITING	Spastic Paraplegia - Centers of Excellence Research Network
NCT06572046	Not specified	RECRUITING	STOP-HSP.Net: a Registry for Hereditary Spastic Paraplegia as an Integration Tool for Future Therapeutic Strategies
NCT06573866	Not specified	ACTIVE_NOT_RECRUITING	Enhancement of Quality of Work And Life
NCT06680063	Not specified	COMPLETED	Correlation Between Clinical Assessment and Neurophysiological Assessment in Spinal Cord Injury
NCT06728787	Not specified	RECRUITING	Robot-assisted Walking Treatment in Hereditary Spastic Paraplegia (HSP)
NCT06740006	Not specified	COMPLETED	Retrospective Study on the WalkOn AFO in Children or Teenagers With Neurological Pathologies
NCT06742697	Not specified	RECRUITING	Flexibility, Resistance, Aerobic, Movement Execution Training in Adults With Hereditary Spastic Paraplegia
NCT06844734	Not specified	RECRUITING	A Prospective Cohort Study of ITB Treatment for HSP
NCT06936163	Not specified	RECRUITING	A Prospective Cohort Study of Surgical Treatment for Foot Deformities in HSP
NCT07090057	Not specified	RECRUITING	The Effect of Targeting the Plantaris Muscle-tendon in Surgical Correction of Ankle Equinus in Children
NCT07136844	Not specified	RECRUITING	Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology
NCT07352085	Not specified	COMPLETED	Exoskeleton-assisted Neurorehabilitation
NCT07417943	Not specified	RECRUITING	Neuromodulation to Enhance Motor Function in HSP
NCT07478172	Not specified	RECRUITING	Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
NCT07561359	Not specified	ENROLLING_BY_INVITATION	12-Week Strength and Functional Exercise Program for Hereditary Spastic Paraplegia Trial (HSPMOVE)
NCT07706517	Not specified	COMPLETED	Assessing Transition Practices for Children With Disabilities: Pathways to a Successful Adulthood
NCT07798674	Not specified	RECRUITING	TreatHSP Platform: Adaptive Natural History Platform for Ataxias, HSPs, and Spastic Ataxias
NCT07799233	Not specified	COMPLETED	Dental-Oral and Craniofacial Characteristics of Hereditary Spastic Paraplegia: A Preliminary Study