ODF2L

gene
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Also known as KIAA1229

Summary

ODF2L (outer dense fiber of sperm tails 2 like, HGNC:29225) is a protein-coding gene on chromosome 1p22.3, encoding Protein BCAP (Q9ULJ1). Acts as a suppressor of ciliogenesis, specifically, the initiation of ciliogenesis.

Involved in negative regulation of cilium assembly. Located in centriolar satellite and ciliary basal body.

Source: NCBI Gene 57489 — RefSeq curated summary.

At a glance

  • GWAS associations: 4
  • Clinical variants (ClinVar): 121 total
  • MANE Select transcript: NM_001366781

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:29225
Approved symbolODF2L
Nameouter dense fiber of sperm tails 2 like
Location1p22.3
Locus typegene with protein product
StatusApproved
AliasesKIAA1229
Ensembl geneENSG00000122417
Ensembl biotypeprotein_coding
OMIM620130
Entrez57489

Gene structure

Transcript identifiers

Ensembl transcripts: 41 — 21 protein_coding, 9 nonsense_mediated_decay, 9 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000294678, ENST00000317336, ENST00000359242, ENST00000370566, ENST00000394733, ENST00000460698, ENST00000462648, ENST00000463933, ENST00000472144, ENST00000472368, ENST00000473792, ENST00000476054, ENST00000478286, ENST00000479890, ENST00000480440, ENST00000486215, ENST00000486557, ENST00000488879, ENST00000496592, ENST00000524695, ENST00000531412, ENST00000534092, ENST00000696297, ENST00000696298, ENST00000696299, ENST00000696300, ENST00000696301, ENST00000696302, ENST00000696303, ENST00000696304, ENST00000696309, ENST00000696310, ENST00000907312, ENST00000926630, ENST00000926631, ENST00000926632, ENST00000926633, ENST00000926634, ENST00000926635, ENST00000945042, ENST00000945043

RefSeq mRNA: 35 — MANE Select: NM_001366781 NM_001007022, NM_001184765, NM_001184766, NM_001366779, NM_001366781, NM_001366782, NM_001366783, NM_001366784, NM_001395519, NM_001395520, NM_001395521, NM_001395522, NM_001395523, NM_001395524, NM_001395525, NM_001395526, NM_001395527, NM_001395528, NM_001395529, NM_001395530, NM_001395531, NM_001395532, NM_001395533, NM_001395534, NM_001395535, NM_001395536, NM_001395537, NM_001395538, NM_001395539, NM_001395540, NM_001395541, NM_001395542, NM_001395543, NM_001395544, NM_020729

CCDS: CCDS30763, CCDS41354, CCDS53339, CCDS90996, CCDS90997

Canonical transcript exons

ENST00000460698 — 17 exons

ExonStartEnd
ENSE000017997738635644486356602
ENSE000021543478634683786348878
ENSE000034607928637243186372540
ENSE000034814118635285986352984
ENSE000034999108635878786358891
ENSE000035109808638467686384801
ENSE000035269068637623386376418
ENSE000035344108638224286382358
ENSE000035446178638313486383196
ENSE000035524518636042686360536
ENSE000035599098635453086354692
ENSE000035817038637101886371153
ENSE000036232128638293186383002
ENSE000036235348638545886385590
ENSE000036742658635477486354859
ENSE000039668678638691586387086
ENSE000039668688639603386396323

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 98.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.1195 / max 329.8220, expressed in 1764 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
1310419.59131758
131031.1292588
131010.2597128
131020.139240

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
right uterine tubeUBERON:000130298.38gold quality
calcaneal tendonUBERON:000370196.96gold quality
olfactory segment of nasal mucosaUBERON:000538695.33gold quality
sural nerveUBERON:001548894.94gold quality
adenohypophysisUBERON:000219694.88gold quality
adrenal tissueUBERON:001830394.33gold quality
right lobe of thyroid glandUBERON:000111993.99gold quality
left lobe of thyroid glandUBERON:000112093.74gold quality
oviduct epitheliumUBERON:000480493.62gold quality
spleenUBERON:000210693.59gold quality
right lungUBERON:000216793.45gold quality
bronchial epithelial cellCL:000232893.43gold quality
omental fat padUBERON:001041493.20gold quality
peritoneumUBERON:000235893.14gold quality
small intestine Peyer’s patchUBERON:000345493.06gold quality
left ovaryUBERON:000211992.88gold quality
rectumUBERON:000105292.87gold quality
right ovaryUBERON:000211892.87gold quality
thyroid glandUBERON:000204692.85gold quality
body of uterusUBERON:000985392.52gold quality
upper lobe of left lungUBERON:000895292.44gold quality
tibial nerveUBERON:000132392.39gold quality
pituitary glandUBERON:000000792.38gold quality
left uterine tubeUBERON:000130392.35gold quality
left adrenal gland cortexUBERON:003582592.35gold quality
endocervixUBERON:000045892.31gold quality
transverse colonUBERON:000115792.16gold quality
metanephros cortexUBERON:001053392.15gold quality
bronchusUBERON:000218592.13gold quality
left adrenal glandUBERON:000123492.07gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

ExperimentMarker?Max mean expression
E-CURD-46yes66.23
E-CURD-88yes53.11
E-GEOD-130148yes12.69
E-CURD-114yes11.84
E-ANND-3yes10.69
E-CURD-112yes4.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

107 targeting ODF2L, 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-3064-3P100.0070.091254
HSA-MIR-3163100.0077.238605
HSA-MIR-548AW99.9972.573559
HSA-MIR-477599.9875.006394
HSA-MIR-1213699.9872.815713
HSA-MIR-590-3P99.9674.346478
HSA-MIR-551B-5P99.9671.283493
HSA-MIR-9983-3P99.9471.483631
HSA-MIR-335-3P99.9373.364958
HSA-MIR-497-5P99.9271.832674
HSA-MIR-130599.9171.433443
HSA-MIR-4753-3P99.9071.033786
HSA-MIR-15A-5P99.9072.802787
HSA-MIR-15B-5P99.9072.782798
HSA-MIR-16-5P99.9072.802780
HSA-MIR-195-5P99.9072.812805
HSA-MIR-548E-5P99.8972.734486
HSA-MIR-424-5P99.8971.902641
HSA-MIR-6838-5P99.8971.942690
HSA-MIR-7845-5P99.8864.88771
HSA-MIR-129-5P99.8870.263273
HSA-LET-7A-2-3P99.8770.531921
HSA-MIR-10395-5P99.8667.35676
HSA-MIR-659-3P99.8570.691620
HSA-LET-7G-3P99.8570.431929
HSA-MIR-576-5P99.8470.462582
HSA-MIR-684499.8270.692423
HSA-MIR-430799.8270.453374
HSA-MIR-3150A-3P99.7664.441640
HSA-MIR-6763-5P99.7664.681767

Literature-anchored findings (GeneRIF, showing 1)

  • ODF2L acts as a synthetic lethal partner with WEE1 inhibition in epithelial ovarian cancer models. (PMID:36378528)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusOdf2lENSMUSG00000028256
rattus_norvegicusOdf2lENSRNOG00000014059

Paralogs (1): ODF2 (ENSG00000136811)

Protein

Protein identifiers

Protein BCAPQ9ULJ1 (reviewed: Q9ULJ1)

Alternative names: Basal body centriole-associated protein, Outer dense fiber protein 2-like

All UniProt accessions (13): A0A8Q3SIE2, A0A8Q3SIL9, A0A8Q3SIM3, A0A8Q3WL67, A0A8Q3WMC5, B5ME44, E9PJZ1, E9PMV9, E9PNP0, Q9ULJ1, H0YCM1, H0YD68, H0YF19

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a suppressor of ciliogenesis, specifically, the initiation of ciliogenesis.

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

Tissue specificity. Mainly expressed in trachea and testis. Not detected in bone marrow, bladder, leukocytes. Only weakly detected in tongue, stomach, brain and ovaries.

Similarity. Belongs to the ODF2 family.

Isoforms (6)

UniProt IDNamesCanonical?
Q9ULJ1-11, L-BCAPyes
Q9ULJ1-22
Q9ULJ1-33
Q9ULJ1-44
Q9ULJ1-55
Q9ULJ1-66

RefSeq proteins (35): NP_001007023, NP_001171694, NP_001171695, NP_001353708, NP_001353710, NP_001353711, NP_001353712, NP_001353713, NP_001382448, NP_001382449, NP_001382450, NP_001382451, NP_001382452, NP_001382453, NP_001382454, NP_001382455, NP_001382456, NP_001382457, NP_001382458, NP_001382459, NP_001382460, NP_001382461, NP_001382462, NP_001382463, NP_001382464, NP_001382465, NP_001382466, NP_001382467, NP_001382468, NP_001382469, NP_001382470, NP_001382471, NP_001382472, NP_001382473, NP_065780 (=MANE)

Domains & families (InterPro)

IDNameType
IPR026099ODF2/BCAPFamily

UniProt features (16 total): coiled-coil region 5, splice variant 5, sequence conflict 3, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9ULJ1-F182.060.52

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 120 (showing top): RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NEGATIVE_REGULATION_OF_ORGANELLE_ASSEMBLY, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CILIUM_ORGANIZATION, GOCC_CENTROSOME, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, GOBP_ORGANELLE_ASSEMBLY, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, GOBP_NEGATIVE_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_REGULATION_OF_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION

GO Biological Process (2): cell projection organization (GO:0030030), negative regulation of cilium assembly (GO:1902018)

GO Molecular Function (0):

GO Cellular Component (8): centrosome (GO:0005813), centriole (GO:0005814), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
microtubule organizing center3
cellular anatomical structure3
intracellular membraneless organelle2
cellular component organization1
cilium assembly1
negative regulation of plasma membrane bounded cell projection assembly1
regulation of cilium assembly1
negative regulation of organelle assembly1
centriole1
centrosome1
cilium1
intracellular anatomical structure1
intraciliary transport particle1
membrane-bounded organelle1
plasma membrane bounded cell projection1

Protein interactions and networks

STRING

1043 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ODF2LPRSS23O95084497
ODF2LSH3GLB1Q9Y371489
ODF2LPKDREJQ9NTG1473
ODF2LCBY2Q8NA61469
ODF2LGRB2P29354445
ODF2LUBXN11Q5T124437
ODF2LPIK3R2O00459434
ODF2LSPEM1Q8N4L4412
ODF2LSPATA19Q7Z5L4407
ODF2LSPATA9Q9BWV2405
ODF2LMETTL3Q86U44404
ODF2LEMC9Q9Y3B6402
ODF2LCABYRO75952397
ODF2LDKKL1Q9UK85396
ODF2LOAZ3Q9UMX2395

IntAct

49 interactions, top by confidence:

ABTypeScore
MED4MED19psi-mi:“MI:2364”(proximity)0.900
EMILIN1METTL15psi-mi:“MI:0914”(association)0.530
PPP1R13BCCDC85Cpsi-mi:“MI:0914”(association)0.530
BORCS6HSBP1psi-mi:“MI:0914”(association)0.530
ODF2PLK1psi-mi:“MI:0914”(association)0.480
ODF2LCHD4psi-mi:“MI:0915”(physical association)0.400
Ndc80RRBP1psi-mi:“MI:0915”(physical association)0.400
ERBB2ODF2Lpsi-mi:“MI:0915”(physical association)0.370
ODF2LHTTpsi-mi:“MI:0915”(physical association)0.370
S100PPLEKHG3psi-mi:“MI:0914”(association)0.350
CFAP184TARS3psi-mi:“MI:0914”(association)0.350
KRT38KRBA1psi-mi:“MI:0914”(association)0.350
INSYN1CCDC85Cpsi-mi:“MI:0914”(association)0.350
ODF2LGAPDHSpsi-mi:“MI:0914”(association)0.350
BORCS6UQCRQpsi-mi:“MI:0914”(association)0.350
BRK1KIF5Cpsi-mi:“MI:0914”(association)0.350
CEP128CCDC66psi-mi:“MI:2364”(proximity)0.270
PCM1CCDC66psi-mi:“MI:2364”(proximity)0.270
ODF2CCDC66psi-mi:“MI:2364”(proximity)0.270
TRAF3IP1ODF2Lpsi-mi:“MI:0915”(physical association)0.000
NDEL1ODF2Lpsi-mi:“MI:0915”(physical association)0.000
ppdKODF2Lpsi-mi:“MI:0915”(physical association)0.000
ODF2Lspo0Jpsi-mi:“MI:0915”(physical association)0.000
ODF2Lpsi-mi:“MI:0915”(physical association)0.000
cotEODF2Lpsi-mi:“MI:0915”(physical association)0.000
ODF2LcitT3psi-mi:“MI:0915”(physical association)0.000
ODF2LlysRpsi-mi:“MI:0915”(physical association)0.000

BioGRID (55): ODF2L (Affinity Capture-RNA), ODF2L (Affinity Capture-MS), ODF2L (Proximity Label-MS), ODF2L (Proximity Label-MS), ODF2L (Proximity Label-MS), ODF2L (Proximity Label-MS), ODF2L (Affinity Capture-MS), ODF2L (Affinity Capture-MS), NPM2 (Affinity Capture-MS), GAPDHS (Affinity Capture-MS), ZMAT2 (Affinity Capture-MS), HACL1 (Affinity Capture-MS), ODF2L (Affinity Capture-RNA), ODF2L (Biochemical Activity), ODF2L (Proximity Label-MS)

ESM2 similar proteins: A0A0A6YYL3, A2A2Z9, A6NC57, A8MYB1, A9JSR5, A9UM82, A9ZSY0, D3ZNV2, F4K1B4, G5EBL8, H3BUK9, O14043, P34606, Q01649, Q08B20, Q0VBY1, Q19UN5, Q32L59, Q4UJ75, Q501X2, Q5CZ79, Q5M7B7, Q5SQ80, Q5TYW2, Q5VUR7, Q66HB6, Q6AY08, Q7FAD5, Q7TPV2, Q7Z7B0, Q80X59, Q811D2, Q86Y13, Q86YR6, Q8IVF6, Q8N6Q1, Q8NF67, Q8WXW3, Q95JR0, Q96AA8

Diamond homologs: Q08B20, Q0VBY1, Q5ZKK5, Q9D478, Q9ULJ1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 50 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 termPartnersFoldFDR
cilium assembly511.2×6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance88
Likely benign8
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

2755 predictions. Top by Δscore:

VariantEffectΔscore
1:86354525:CATA:Cdonor_loss1.0000
1:86354526:ATAC:Adonor_loss1.0000
1:86354527:TA:Tdonor_loss1.0000
1:86354528:A:Cdonor_loss1.0000
1:86354689:TTTT:Tacceptor_gain1.0000
1:86354690:TTT:Tacceptor_gain1.0000
1:86354697:T:Cacceptor_gain1.0000
1:86354697:T:TCacceptor_gain1.0000
1:86354700:C:CTacceptor_gain1.0000
1:86354772:A:ACdonor_gain1.0000
1:86354773:C:CCdonor_gain1.0000
1:86354773:CT:Cdonor_gain1.0000
1:86354855:TCAAC:Tacceptor_gain1.0000
1:86354856:CAAC:Cacceptor_gain1.0000
1:86354856:CAACC:Cacceptor_gain1.0000
1:86354857:AAC:Aacceptor_gain1.0000
1:86354857:AACC:Aacceptor_loss1.0000
1:86354858:AC:Aacceptor_gain1.0000
1:86354859:CC:Cacceptor_gain1.0000
1:86354859:CCTAA:Cacceptor_loss1.0000
1:86354860:C:CCacceptor_gain1.0000
1:86354860:C:Tacceptor_gain1.0000
1:86356458:C:CAdonor_gain1.0000
1:86356472:T:TAdonor_gain1.0000
1:86356488:T:TAdonor_gain1.0000
1:86356489:C:Adonor_gain1.0000
1:86356511:T:Adonor_gain1.0000
1:86358782:CGTA:Cdonor_loss1.0000
1:86358783:GTA:Gdonor_loss1.0000
1:86358784:TA:Tdonor_loss1.0000

AlphaMissense

4328 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:86382300:A:GL189P0.968
1:86354561:A:GL579P0.961
1:86354553:C:GA582P0.952
1:86382303:C:GR188P0.951
1:86352908:A:GL615P0.949
1:86352920:A:GL611P0.947
1:86382956:A:GL161P0.935
1:86354780:A:GL533P0.924
1:86354571:C:GA576P0.923
1:86382998:A:GL147P0.917
1:86354657:A:GL547P0.912
1:86382343:C:GA175P0.912
1:86376310:C:GA245P0.887
1:86354624:A:GL558P0.886
1:86382336:C:GR177P0.885
1:86354556:C:GA581P0.880
1:86371139:A:GL312P0.877
1:86352929:A:GI608T0.867
1:86354564:T:GQ578P0.861
1:86354645:A:GL551P0.859
1:86371127:A:GL316P0.848
1:86358870:C:GA426P0.847
1:86382258:A:GL203S0.846
1:86376394:A:GW217R0.841
1:86376394:A:TW217R0.841
1:86356454:A:GL503P0.831
1:86382274:C:GA198P0.830
1:86382312:A:TV185E0.829
1:86382291:T:GQ192P0.810
1:86352938:T:GQ605P0.808

dbSNP variants (sampled 300 via entrez): RS1000017063 (1:86349038 TTTAAAA>T), RS1000043815 (1:86372860 C>G,T), RS1000278189 (1:86394658 T>C), RS1000306890 (1:86348979 T>C), RS1000416816 (1:86349488 T>C), RS1000541012 (1:86354225 A>C), RS1000622318 (1:86393118 C>T), RS1000700800 (1:86382610 T>C), RS1000837770 (1:86362976 C>T), RS1000847604 (1:86363301 C>T), RS1000940907 (1:86367992 T>C), RS1000953608 (1:86357852 T>C), RS1001018030 (1:86350561 T>C), RS1001080235 (1:86395851 C>G,T), RS1001169067 (1:86362480 G>A)

Disease associations

OMIM: gene MIM:620130 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

StudyTraitp-value
GCST005580_172Intraocular pressure1.000000e-08
GCST005580_288Intraocular pressure2.000000e-09
GCST006629_76Pulse pressure3.000000e-10
GCST009847_14Hallux valgus3.000000e-07

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0004695intraocular pressure measurement
EFO:0005763pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Aciddecreases expression, decreases methylation3
Particulate Matterincreases abundance, increases expression, decreases expression2
triphenyl phosphateaffects expression1
bisphenol Aincreases methylation, affects methylation, affects cotreatment1
trichostatin Aincreases expression1
potassium chromate(VI)affects cotreatment, decreases expression1
epigallocatechin gallatedecreases expression, affects cotreatment1
di-n-butylphosphoric acidaffects expression1
torcetrapibincreases expression1
bisphenol Sincreases methylation1
jinfukangdecreases expression1
Sunitinibdecreases expression1
Fulvestrantaffects cotreatment, increases methylation1
Leflunomidedecreases expression1
Vehicle Emissionsincreases abundance, increases expression1
Benzo(a)pyrenedecreases methylation, increases methylation1
Clorgylineincreases expression1
Dimethyl Sulfoxideincreases expression1
Doxorubicindecreases expression1
Estradiolaffects cotreatment, increases expression1
Ethyl Methanesulfonateincreases expression1
Malathiondecreases expression1
Methyl Methanesulfonateincreases expression1
Testosteronedecreases expression1
Tobacco Smoke Pollutiondecreases expression1
Tretinoinincreases expression1
Aflatoxin B1decreases methylation1
Okadaic Acidincreases expression1
Acrylamidedecreases 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.