CEP295NL

Summary

CEP295NL (CEP295 N-terminal like, HGNC:44659) is a protein-coding gene on chromosome 17q25.3, encoding CEP295 N-terminal-like protein (Q96MC4).

Predicted to be involved in regulation of centriole replication. Predicted to be located in motile cilium. Predicted to be active in centriole; centrosome; and cytosol.

Source: NCBI Gene 100653515 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001243540

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:44659
Approved symbol	CEP295NL
Name	CEP295 N-terminal like
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	DDC8
Ensembl gene	ENSG00000178404
Ensembl biotype	protein_coding
Entrez	100653515

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000322630, ENST00000587052, ENST00000590267

RefSeq mRNA: 2 — MANE Select: NM_001243540 NM_001243540, NM_001243541

CCDS: CCDS58603

Canonical transcript exons

ENST00000322630 — 3 exons

Exon	Start	End
ENSE00001243930	78890579	78892459
ENSE00001529273	78903134	78903201
ENSE00003484976	78901785	78901926

Expression profiles

Bgee: expression breadth ubiquitous, 121 present calls, max score 95.57.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0527 / max 54.5813, expressed in 5 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168512	0.0493	5
168511	0.0034	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	95.57	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.45	gold quality
left testis	UBERON:0004533	90.20	gold quality
testis	UBERON:0000473	89.91	gold quality
right testis	UBERON:0004534	89.90	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.70	gold quality
bone marrow cell	CL:0002092	78.94	gold quality
corpus callosum	UBERON:0002336	74.72	gold quality
bone marrow	UBERON:0002371	73.07	gold quality
blood	UBERON:0000178	72.76	gold quality
calcaneal tendon	UBERON:0003701	69.20	gold quality
lower esophagus mucosa	UBERON:0035834	68.11	gold quality
colonic epithelium	UBERON:0000397	67.81	gold quality
monocyte	CL:0000576	67.79	gold quality
leukocyte	CL:0000738	67.27	gold quality
stromal cell of endometrium	CL:0002255	65.78	gold quality
tonsil	UBERON:0002372	62.39	gold quality
granulocyte	CL:0000094	60.67	gold quality
spleen	UBERON:0002106	59.68	gold quality
uterine cervix	UBERON:0000002	57.79	gold quality
duodenum	UBERON:0002114	57.54	gold quality
ectocervix	UBERON:0012249	55.67	gold quality
urinary bladder	UBERON:0001255	54.79	gold quality
myometrium	UBERON:0001296	54.68	gold quality
left ovary	UBERON:0002119	54.60	gold quality
ovary	UBERON:0000992	54.36	gold quality
tibial nerve	UBERON:0001323	54.15	gold quality
right ovary	UBERON:0002118	53.21	gold quality
esophagus mucosa	UBERON:0002469	53.00	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	53.00	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.97

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	alms1	ENSDARG00000074779
mus_musculus	Cep295nl	ENSMUSG00000076433
rattus_norvegicus	Timp2	ENSRNOG00000033143

Paralogs (3): ALMS1 (ENSG00000116127), C10orf90 (ENSG00000154493), CEP295 (ENSG00000166004)

Protein

Protein identifiers

CEP295 N-terminal-like protein — Q96MC4 (reviewed: Q96MC4)

Alternative names: KIAA1731 N-terminal like protein

All UniProt accessions (3): Q96MC4, A0A9L9PXH9, A0A9L9PY45

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cell projection. Cilium.

RefSeq proteins (2): NP_001230469, NP_001230470 (=MANE)

Domains & families (InterPro)

UniProt features (13 total): compositionally biased region 6, region of interest 4, coiled-coil region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96MC4-F1	59.38	0.22

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 41 (showing top): GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_REGULATION_OF_CENTRIOLE_REPLICATION, GOBP_CENTRIOLE_ASSEMBLY, GOBP_REGULATION_OF_CELL_CYCLE, GOCC_CENTROSOME, GOBP_REGULATION_OF_CENTROSOME_CYCLE, GOBP_ORGANELLE_ASSEMBLY, GOBP_REGULATION_OF_ORGANELLE_ASSEMBLY, GOBP_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_CENTROSOME_DUPLICATION, GOCC_CENTRIOLE, GOCC_CILIUM

GO Biological Process (1): regulation of centriole replication (GO:0046599)

GO Molecular Function (0):

GO Cellular Component (5): centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
microtubule organizing center	2
cellular anatomical structure	2
centriole replication	1
regulation of centrosome duplication	1
regulation of organelle assembly	1
centriole	1
intracellular membraneless organelle	1
cytoplasm	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

102 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEP295NL	CLRN2	A0PK11	531
CEP295NL	LRRC31	Q6UY01	502
CEP295NL	TANGO6	Q9C0B7	447
CEP295NL	TSSK4	Q6SA08	432
CEP295NL	CSTF2T	Q9H0L4	378
CEP295NL	CD96	P40200	344
CEP295NL	CLEC4G	Q6UXB4	343
CEP295NL	TSSK6	Q9BXA6	336
CEP295NL	RHBDL2	Q9NX52	311
CEP295NL	CLEC4A	Q9UMR7	297
CEP295NL	RPL6	Q02878	289
CEP295NL	IFIT1B	Q5T764	275
CEP295NL	LRIT1	Q9P2V4	266
CEP295NL	SLAMF6	Q96DU3	256
CEP295NL	ANGPTL1	O95841	251

IntAct

3 interactions, top by confidence:

A	B	Type	Score
CEP295NL	H3-4	psi-mi:“MI:0915”(physical association)	0.400
CEP295NL	H2BC9	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (4): KIAA1731NL (Affinity Capture-RNA), KIAA1731NL (Protein-RNA), KIAA1731NL (Proximity Label-MS), KIAA1731NL (Proximity Label-MS)

ESM2 similar proteins: A0A1B0GVZ6, A5D7I0, A6H7B4, A6NDZ8, A6NE82, A6NJ08, A6NJB7, A6NJI1, A6NL46, A6QP24, A8MUA0, A8MUI8, A8MV72, A8MX80, B2RW88, O94850, P0C6A0, P24097, P50617, Q0P5M0, Q0VD86, Q2KIL8, Q3B8N5, Q3SY00, Q3SYA9, Q3UN58, Q5BMD4, Q5JTZ5, Q5RBE4, Q5VZ46, Q66MI6, Q68US1, Q6GQV0, Q6PAC4, Q80TS7, Q80VY2, Q8BFY7, Q8BII1, Q8IXW0, Q8K2F3

Diamond homologs: Q497N6, Q96MC4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

352 predictions. Top by Δscore:

Variant	Effect	Δscore
17:78890658:C:CA	donor_gain	0.9400
17:78901420:T:TA	donor_gain	0.9200
17:78894385:TCTTG:T	acceptor_gain	0.8900
17:78901949:C:T	acceptor_gain	0.8500
17:78890699:A:AT	donor_gain	0.8300
17:78901948:CCAGA:C	acceptor_gain	0.8000
17:78901949:C:CT	acceptor_gain	0.7900
17:78890613:T:C	donor_gain	0.7800
17:78894386:C:G	acceptor_gain	0.7800
17:78901943:C:CT	acceptor_gain	0.7800
17:78898091:T:A	donor_gain	0.7700
17:78890659:C:A	donor_gain	0.7400
17:78890696:TGCA:T	donor_gain	0.7400
17:78901944:A:T	acceptor_gain	0.7400
17:78901950:A:T	acceptor_gain	0.7400
17:78890698:C:CT	donor_gain	0.7300
17:78890641:G:C	donor_gain	0.6400
17:78895919:C:A	donor_gain	0.6300
17:78898251:C:A	acceptor_gain	0.6300
17:78898101:CA:C	donor_gain	0.6000
17:78892482:G:GT	acceptor_gain	0.5900
17:78892489:TCC:T	acceptor_gain	0.5900
17:78895412:G:T	acceptor_gain	0.5800
17:78890618:C:CT	donor_gain	0.5700
17:78892524:G:GA	acceptor_gain	0.5700
17:78892525:A:AA	acceptor_gain	0.5700
17:78895280:C:G	acceptor_gain	0.5700
17:78892481:TG:T	acceptor_gain	0.5600
17:78890697:G:GC	donor_gain	0.5500
17:78890700:A:AA	donor_gain	0.5500

AlphaMissense

4052 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:78890686:A:C	F606L	0.980
17:78890686:A:T	F606L	0.980
17:78890688:A:G	F606L	0.980
17:78890653:A:C	F617L	0.976
17:78890653:A:T	F617L	0.976
17:78890655:A:G	F617L	0.976
17:78890676:C:G	A610P	0.941
17:78890717:A:G	I596T	0.937
17:78891457:A:C	F349L	0.937
17:78891457:A:T	F349L	0.937
17:78891459:A:G	F349L	0.937
17:78891469:A:C	F345L	0.915
17:78891469:A:T	F345L	0.915
17:78891471:A:G	F345L	0.915
17:78890672:C:G	R611P	0.907
17:78891436:T:A	K356N	0.902
17:78891436:T:G	K356N	0.902
17:78891437:T:A	K356I	0.895
17:78890654:A:G	F617S	0.890
17:78890654:A:C	F617C	0.876
17:78890663:A:G	L614S	0.875
17:78890917:G:C	S529R	0.866
17:78890917:G:T	S529R	0.866
17:78890919:T:G	S529R	0.866
17:78890909:A:G	I532T	0.855
17:78891449:T:A	N352I	0.855
17:78891461:A:G	L348S	0.851
17:78890717:A:C	I596S	0.850
17:78890738:A:G	I589T	0.846
17:78890687:A:G	F606S	0.844

dbSNP variants (sampled 300 via entrez): RS1000021645 (17:78903335 A>G), RS1000172760 (17:78899154 G>C), RS1000225238 (17:78896407 G>A), RS1000286333 (17:78900950 C>G,T), RS1000384917 (17:78894819 GA>G,GAA), RS1000401364 (17:78900683 C>A,T), RS1000514931 (17:78896569 G>A,C), RS1000659959 (17:78895843 C>T), RS1000711683 (17:78896120 G>A), RS1000947818 (17:78892268 T>A,C), RS1001405527 (17:78899750 CT>C), RS1001511462 (17:78894879 G>A,C), RS1001693732 (17:78903831 G>A), RS1001704057 (17:78890296 G>A), RS1001733736 (17:78896649 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	decreases expression, affects cotreatment	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic Trioxide	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Cisplatin	affects cotreatment, decreases expression	1
Copper	affects cotreatment, decreases expression	1
Ozone	affects expression, increases abundance	1
Smoke	decreases expression	1
Okadaic Acid	increases expression	1
Magnetite Nanoparticles	increases expression	1

Clinical trials (associated diseases)

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