CEP170B

gene
On this page

Also known as FAM68CCep170R

Summary

CEP170B (centrosomal protein 170B, HGNC:20362) is a protein-coding gene on chromosome 14q32.33, encoding Centrosomal protein of 170 kDa protein B (Q9Y4F5). Plays a role in microtubule organization.

Predicted to be located in cytoplasm and microtubule.

Source: NCBI Gene 283638 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 447 total
  • MANE Select transcript: NM_001112726

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:20362
Approved symbolCEP170B
Namecentrosomal protein 170B
Location14q32.33
Locus typegene with protein product
StatusApproved
AliasesFAM68C, Cep170R
Ensembl geneENSG00000099814
Ensembl biotypeprotein_coding
OMIM620251
Entrez283638

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 retained_intron

ENST00000251181, ENST00000414716, ENST00000556508, ENST00000864421, ENST00000864422, ENST00000926145

RefSeq mRNA: 2 — MANE Select: NM_001112726 NM_001112726, NM_015005

CCDS: CCDS45175, CCDS45176

Canonical transcript exons

ENST00000414716 — 19 exons

ExonStartEnd
ENSE00000655780104880287104880425
ENSE00000655782104882728104882832
ENSE00000655787104883831104884549
ENSE00000655789104885369104885542
ENSE00000655791104886040104886130
ENSE00000655792104886275104887978
ENSE00000901774104893761104893849
ENSE00000901775104893523104893666
ENSE00001604178104889620104889758
ENSE00001674345104868424104868555
ENSE00001680489104883035104883508
ENSE00001717488104892976104893135
ENSE00001736696104878443104878501
ENSE00003483403104894537104894588
ENSE00003500689104894285104894378
ENSE00003576886104876256104876345
ENSE00003621293104877885104877963
ENSE00003845175104894711104896747
ENSE00003849867104865268104865513

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 98.36.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0163 / max 12.5365, expressed in 4 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
14184716.23251664
1418520.01634

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
pancreatic ductal cellCL:000207998.36gold quality
Brodmann (1909) area 10UBERON:001354197.41gold quality
endometrium epitheliumUBERON:000481195.75gold quality
frontal poleUBERON:000279594.91gold quality
CA1 field of hippocampusUBERON:000388194.76gold quality
ileal mucosaUBERON:000033194.74gold quality
orbitofrontal cortexUBERON:000416794.57gold quality
cerebellar vermisUBERON:000472094.52gold quality
paraflocculusUBERON:000535194.34gold quality
right hemisphere of cerebellumUBERON:001489093.86gold quality
pharyngeal mucosaUBERON:000035593.73gold quality
nippleUBERON:000203093.68gold quality
tongue squamous epitheliumUBERON:000691993.55gold quality
nasal cavity epitheliumUBERON:000538493.43gold quality
Brodmann (1909) area 46UBERON:000648393.29gold quality
middle frontal gyrusUBERON:000270293.08gold quality
cerebellar cortexUBERON:000212993.04gold quality
cerebellar hemisphereUBERON:000224593.01gold quality
cerebellumUBERON:000203793.00gold quality
tracheaUBERON:000312692.85gold quality
parietal lobeUBERON:000187292.84gold quality
pylorusUBERON:000116692.82gold quality
mucosa of transverse colonUBERON:000499192.82gold quality
oocyteCL:000002392.72gold quality
right frontal lobeUBERON:000281092.69gold quality
superior frontal gyrusUBERON:000266192.62gold quality
cardia of stomachUBERON:000116292.59gold quality
cervix squamous epitheliumUBERON:000692292.55gold quality
postcentral gyrusUBERON:000258192.47gold quality
frontal cortexUBERON:000187092.40gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-GEOD-137537yes4.39
E-ANND-3yes4.01

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

108 targeting CEP170B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3163100.0077.238605
HSA-MIR-4673100.0066.641490
HSA-MIR-5193100.0067.261744
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-9-5P100.0072.282361
HSA-MIR-6740-5P100.0065.64932
HSA-MIR-4283100.0066.422097
HSA-MIR-8485100.0077.574731
HSA-MIR-4645-5P99.9865.811284
HSA-MIR-4650-5P99.9864.69999
HSA-MIR-7152-3P99.9767.47849
HSA-MIR-9-3P99.9670.882068
HSA-MIR-146A-5P99.9668.93988
HSA-MIR-146B-5P99.9669.13977
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-96-5P99.9572.802140
HSA-MIR-7153-5P99.9468.891006
HSA-MIR-1213399.9271.822006
HSA-MIR-1271-5P99.9171.991972
HSA-MIR-7-1-3P99.9171.534384
HSA-MIR-7-2-3P99.9171.404394
HSA-MIR-182-5P99.8774.032589
HSA-MIR-449299.8768.253611
HSA-LET-7A-2-3P99.8770.531921
HSA-MIR-444799.8567.812900
HSA-LET-7G-3P99.8570.431929

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriocep170baENSDARG00000074636
danio_reriocep170bbENSDARG00000078327
mus_musculusCep170bENSMUSG00000072825
rattus_norvegicusCep170bENSRNOG00000033688

Paralogs (1): CEP170 (ENSG00000143702)

Protein

Protein identifiers

Centrosomal protein of 170 kDa protein BQ9Y4F5 (reviewed: Q9Y4F5)

Alternative names: Centrosomal protein 170B

All UniProt accessions (1): Q9Y4F5

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in microtubule organization.

Subcellular location. Cytoplasm. Cytoskeleton.

Similarity. Belongs to the CEP170 family.

Isoforms (3)

UniProt IDNamesCanonical?
Q9Y4F5-11yes
Q9Y4F5-22
Q9Y4F5-33

RefSeq proteins (2): NP_001106197, NP_055820 (=MANE)

Domains & families (InterPro)

IDNameType
IPR000253FHA_domDomain
IPR008984SMAD_FHA_dom_sfHomologous_superfamily
IPR029300CEP170_CDomain
IPR051176Cent_Immune-Sig_ModFamily

Pfam: PF00498, PF15308

UniProt features (58 total): modified residue 30, compositionally biased region 15, region of interest 8, splice variant 2, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9Y4F5-F147.310.07

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 (30): 360, 421, 480, 492, 536, 542, 597, 619, 655, 711, 721, 746, 748, 751, 753, 772, 829, 853, 954, 972 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 109 (showing top): WANG_CLIM2_TARGETS_UP, BROWNE_HCMV_INFECTION_48HR_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, PETROVA_ENDOTHELIUM_LYMPHATIC_VS_BLOOD_DN, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_UP, chr14q32, WANG_PROSTATE_CANCER_ANDROGEN_INDEPENDENT, WINNEPENNINCKX_MELANOMA_METASTASIS_DN, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_UP, DODD_NASOPHARYNGEAL_CARCINOMA_DN, RADAEVA_RESPONSE_TO_IFNA1_DN, MEISSNER_NPC_HCP_WITH_H3K4ME2, MARTENS_TRETINOIN_RESPONSE_UP, DURAND_STROMA_S_UP

GO Biological Process (0):

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

GO Cellular Component (3): microtubule (GO:0005874), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding1
microtubule cytoskeleton1
polymeric cytoskeletal fiber1
intracellular anatomical structure1
cellular anatomical structure1
intracellular membraneless organelle1

Protein interactions and networks

STRING

1429 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CEP170BCWF19L2Q2TBE0557
CEP170BQ6NXN5Q6NXN5480
CEP170BRAB39AQ14964462
CEP170BINTS9Q9NV88461
CEP170BSPATA7Q9P0W8442
CEP170BYEATS2Q9ULM3441
CEP170BWDR89Q96FK6437
CEP170BSTK38LQ9Y2H1417
CEP170BRAI14Q9P0K7408
CEP170BTAFA2Q8N3H0407
CEP170BTMEM268Q5VZI3400
CEP170BRFX2P48378390
CEP170BCRYL1Q9Y2S2381
CEP170BCCDC24Q8N4L8376
CEP170BANKRD28O15084373

IntAct

62 interactions, top by confidence:

ABTypeScore
SLMAPSTRNpsi-mi:“MI:2364”(proximity)0.710
CSNK2BNMT2psi-mi:“MI:0914”(association)0.660
CEP170KIF2Apsi-mi:“MI:2364”(proximity)0.650
YWHAGBLTP3Bpsi-mi:“MI:2364”(proximity)0.640
DYNLL2BLTP3Bpsi-mi:“MI:0914”(association)0.640
YWHABBLTP3Bpsi-mi:“MI:2364”(proximity)0.610
YWHABBLTP3Bpsi-mi:“MI:0914”(association)0.610
YWHAHBLTP3Bpsi-mi:“MI:2364”(proximity)0.570
YWHAZBLTP3Bpsi-mi:“MI:0914”(association)0.530
DEFA5NUDT19psi-mi:“MI:0914”(association)0.530
KIF2BBACH1psi-mi:“MI:0914”(association)0.530
CENPHPSMD11psi-mi:“MI:0914”(association)0.530
PNMA2CCDC85Cpsi-mi:“MI:0914”(association)0.530
YWHABPLEKHG3psi-mi:“MI:0914”(association)0.480
Cep170WDR62psi-mi:“MI:0915”(physical association)0.400
CEP170Breppsi-mi:“MI:0915”(physical association)0.370
TYK2BAG2psi-mi:“MI:0914”(association)0.350
KIF2AEIF3Fpsi-mi:“MI:0914”(association)0.350
OFD1SUPT5Hpsi-mi:“MI:0914”(association)0.350
RPGRIP1LKIF2Apsi-mi:“MI:0914”(association)0.350
TUBA1ACAPZBpsi-mi:“MI:0914”(association)0.350
TUBA1AKIF2Apsi-mi:“MI:0914”(association)0.350
ESR1ESYT2psi-mi:“MI:0914”(association)0.350
ERAB34psi-mi:“MI:0914”(association)0.350
BMI1HMGB1P1psi-mi:“MI:0914”(association)0.350
BMI1MEIS3P1psi-mi:“MI:0914”(association)0.350
PRKAA2DFFApsi-mi:“MI:0914”(association)0.350
TUBB4BTUBA1Bpsi-mi:“MI:0914”(association)0.350
YWHABBRAFpsi-mi:“MI:0914”(association)0.350

BioGRID (90): CEP170B (Affinity Capture-MS), CEP170B (Affinity Capture-MS), CEP170B (Affinity Capture-MS), CEP170B (Affinity Capture-MS), CEP170B (Affinity Capture-MS), CEP170B (Proximity Label-MS), CEP170B (Proximity Label-MS), CEP170B (Proximity Label-MS), CEP170B (Proximity Label-MS), CEP170B (Proximity Label-MS), CEP170B (Proximity Label-MS), CEP170B (Affinity Capture-MS), CEP170B (Affinity Capture-MS), CEP170B (Affinity Capture-MS), CEP170B (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GTI1, A2BIL8, A5PKK9, C5DY61, E2QSX5, E7F555, O35147, O43151, P11805, P19416, P24940, P27579, Q06616, Q17QE3, Q1LZE2, Q1RMQ5, Q1T763, Q28CW2, Q2HR82, Q2TBN9, Q3B8E9, Q3ZBS1, Q567C6, Q5RDK8, Q62417, Q68FW2, Q6AY26, Q6DFB0, Q6P6I6, Q6PKN7, Q80U49, Q86YL5, Q8C3W1, Q8QVM1, Q8VEB3, Q8VI59, Q96FT9, Q96GV9, Q96GY3, Q99618

Diamond homologs: A0JM08, Q498L0, Q5M9G6, Q5SW79, Q6A065, Q80U49, Q8BIZ6, Q8TAD8, Q96L14, Q9BWU0, Q9Y4F5, A6PWD2, B1AJZ9, P66800, P9WGJ8, P9WGJ9, B7SY83, Q12972, Q28147, Q4JVU0, Q8R3G1, Q9FIK2, A6ZRW7, O74388, P0C219, P38823, P46017, P53924, Q03944, Q06001, Q10322, Q14BN4, Q28623, Q3URD3, Q07930, Q54VU4, Q8W4D8, A0QNG6, P34648

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 70 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:

PathwayPartnersFoldFDR
Activation of BAD and translocation to mitochondria7106.6×2e-11
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex794.0×3e-11
SARS-CoV-1 targets host intracellular signalling and regulatory pathways794.0×3e-11
Activation of BH3-only proteins769.5×2e-10
RHO GTPases activate PKNs744.4×6e-09
Intrinsic Pathway for Apoptosis741.0×9e-09
Translocation of SLC2A4 (GLUT4) to the plasma membrane1134.0×5e-12
FOXO-mediated transcription533.6×4e-06

GO biological processes:

GO termPartnersFoldFDR
protein targeting530.0×2e-04
intracellular protein localization915.4×3e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance349
Likely benign53
Benign30

Top pathogenic / likely-pathogenic (0)

SpliceAI

3318 predictions. Top by Δscore:

VariantEffectΔscore
14:104865510:GCAG:Gdonor_gain1.0000
14:104865512:AGG:Adonor_loss1.0000
14:104865513:GGTAG:Gdonor_loss1.0000
14:104865514:GTAGG:Gdonor_loss1.0000
14:104868537:GT:Gdonor_gain1.0000
14:104868564:G:GTdonor_gain1.0000
14:104876254:A:AGacceptor_gain1.0000
14:104876255:G:GAacceptor_gain1.0000
14:104876255:GT:Gacceptor_gain1.0000
14:104876255:GTCCC:Gacceptor_gain1.0000
14:104876341:ATGGG:Adonor_gain1.0000
14:104876342:TGGG:Tdonor_gain1.0000
14:104876343:GGG:Gdonor_gain1.0000
14:104876343:GGGG:Gdonor_gain1.0000
14:104876344:GG:Gdonor_gain1.0000
14:104876344:GGG:Gdonor_gain1.0000
14:104876344:GGGT:Gdonor_loss1.0000
14:104876345:GG:Gdonor_gain1.0000
14:104876346:G:GCdonor_loss1.0000
14:104876346:G:GGdonor_gain1.0000
14:104883507:GG:Gdonor_gain1.0000
14:104883508:GG:Gdonor_gain1.0000
14:104883828:CAGGC:Cacceptor_loss1.0000
14:104883829:A:AGacceptor_gain1.0000
14:104883829:A:ATacceptor_loss1.0000
14:104883830:G:GGacceptor_gain1.0000
14:104884567:G:GGdonor_gain1.0000
14:104885540:CAG:Cdonor_loss1.0000
14:104885543:GTAC:Gdonor_loss1.0000
14:104886273:A:AGacceptor_gain1.0000

AlphaMissense

10074 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000055506 (14:104895241 G>A,T), RS1000067146 (14:104883806 AGGTG>A), RS1000358416 (14:104884401 C>A,G,T), RS1000477212 (14:104865338 G>C), RS1000534006 (14:104869807 C>T), RS1000566363 (14:104889571 G>A,C), RS1000636107 (14:104888634 C>T), RS1000693009 (14:104885824 G>A), RS1000721330 (14:104864439 C>G), RS1000783984 (14:104865208 C>G,T), RS1000785822 (14:104865669 C>G,T), RS1000863112 (14:104879641 G>A,C), RS1000999437 (14:104874770 C>T), RS1001040519 (14:104876981 G>A), RS1001170231 (14:104876595 C>A,T)

Disease associations

OMIM: gene MIM:620251 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

StudyTraitp-value
GCST007002_7Cerebrospinal fluid t-tau levels in normal cognition7.000000e-09
GCST007007_3Cerebrospinal fluid t-tau levels7.000000e-06

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004760t-tau measurement

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.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyrenedecreases methylation, increases expression, increases methylation, affects methylation, decreases expression4
sodium arseniteincreases expression3
bisphenol Faffects cotreatment, increases methylation, decreases expression2
Acetaminophenincreases expression2
Valproic Acidaffects expression, increases methylation2
Cyclosporineincreases expression2
FR900359affects phosphorylation1
dicrotophosincreases expression1
bisphenol Aaffects cotreatment, decreases expression1
testosterone undecanoateaffects cotreatment, decreases expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
butyraldehydedecreases expression1
coumarinaffects phosphorylation1
K 7174increases expression1
nutlin 3affects cotreatment, increases expression1
2,2’,4,4’-tetrabromodiphenyl etheraffects methylation1
jinfukangaffects cotreatment, increases expression1
Sunitinibincreases expression1
Fulvestrantincreases methylation, affects cotreatment1
Air Pollutantsincreases abundance, increases expression1
Caffeineaffects phosphorylation1
Cisplatinaffects cotreatment, increases expression1
Dactinomycinaffects cotreatment, increases expression1
Dichlorodiphenyl Dichloroethylenedecreases expression1
Dexamethasoneaffects cotreatment, decreases expression1
Diethylhexyl Phthalateincreases expression1
Indomethacinaffects cotreatment, decreases expression1
Quercetinincreases expression1
Thiramincreases expression1
1-Methyl-3-isobutylxanthineaffects cotreatment, decreases expression1

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.