WDR49

gene
On this page

Also known as FLJ33620

Summary

WDR49 (WD repeat domain 49, HGNC:26587) is a protein-coding gene on chromosome 3q26.1, encoding Cilia- and flagella-associated protein 337 (Q8IV35). Associates with components of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility, and might act as an inner dynein arm (IDA) hub or linkage.

This gene encodes a member of the WD repeat protein family with nine WD repeats. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 151790 — RefSeq curated summary.

At a glance

  • GWAS associations: 9
  • Clinical variants (ClinVar): 119 total
  • MANE Select transcript: NM_001366157

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:26587
Approved symbolWDR49
NameWD repeat domain 49
Location3q26.1
Locus typegene with protein product
StatusApproved
AliasesFLJ33620
Ensembl geneENSG00000174776
Ensembl biotypeprotein_coding
Entrez151790

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 12 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000308378, ENST00000460448, ENST00000466760, ENST00000471198, ENST00000472600, ENST00000476376, ENST00000479765, ENST00000488012, ENST00000493061, ENST00000647816, ENST00000682715, ENST00000862151, ENST00000961482, ENST00000961483, ENST00000961484

RefSeq mRNA: 4 — MANE Select: NM_001366157 NM_001348951, NM_001348952, NM_001366157, NM_001366158

CCDS: CCDS3201, CCDS93421, CCDS93422

Canonical transcript exons

ENST00000682715 — 19 exons

ExonStartEnd
ENSE00001204147167620429167620603
ENSE00001204149167621467167621643
ENSE00001204158167626852167627292
ENSE00001204162167532879167532977
ENSE00001204175167531115167531279
ENSE00001263757167500153167500299
ENSE00001263763167505307167505416
ENSE00001263772167522315167522484
ENSE00001263778167527820167528017
ENSE00001263783167529052167529239
ENSE00001703148167554650167554798
ENSE00001865315167478684167478996
ENSE00003506396167560064167560228
ENSE00003537480167602127167602275
ENSE00003634426167575918167576151
ENSE00003635965167536870167537000
ENSE00003673923167604301167604468
ENSE00003786012167653261167653499
ENSE00003835167167653834167653942

Expression profiles

Bgee: expression breadth ubiquitous, 163 present calls, max score 89.58.

FANTOM5 (CAGE): breadth broad, TPM avg 1.6703 / max 137.9243, expressed in 306 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter IDTPM avgSamples expressed
454511.2451278
454520.229779
454500.099152
454490.064736
454530.01545
454540.00784
454550.00472
454560.00382

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
bronchial epithelial cellCL:000232889.58gold quality
right uterine tubeUBERON:000130289.04gold quality
mucosa of paranasal sinusUBERON:000503088.53gold quality
bronchusUBERON:000218587.66gold quality
olfactory segment of nasal mucosaUBERON:000538686.52gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047384.77gold quality
ventricular zoneUBERON:000305380.84gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099178.77gold quality
oviduct epitheliumUBERON:000480478.19gold quality
epithelium of nasopharynxUBERON:000195176.53gold quality
monocyteCL:000057676.12gold quality
leukocyteCL:000073875.11gold quality
corpus callosumUBERON:000233673.54gold quality
ganglionic eminenceUBERON:000402372.93gold quality
fallopian tubeUBERON:000388972.18gold quality
calcaneal tendonUBERON:000370172.05gold quality
C1 segment of cervical spinal cordUBERON:000646970.48gold quality
spinal cordUBERON:000224069.35gold quality
hypothalamusUBERON:000189869.12gold quality
right atrium auricular regionUBERON:000663168.67gold quality
cardiac atriumUBERON:000208167.95gold quality
bone marrow cellCL:000209266.89gold quality
caudate nucleusUBERON:000187365.72gold quality
amygdalaUBERON:000187664.72gold quality
granulocyteCL:000009464.32gold quality
nasal cavity mucosaUBERON:000182664.06gold quality
nucleus accumbensUBERON:000188263.01gold quality
substantia nigraUBERON:000203862.13gold quality
right lungUBERON:000216761.09gold quality
tendonUBERON:000004360.04gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-MTAB-6075yes88.09
E-ANND-3yes10.43
E-GEOD-36552no9.66

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusWdr49ENSMUSG00000104301
rattus_norvegicusWdr49ENSRNOG00000024628

Paralogs (14): WDR54 (ENSG00000005448), FBXW11 (ENSG00000072803), FBXW7 (ENSG00000109670), TRAF7 (ENSG00000131653), FBXW9 (ENSG00000132004), FBXO36 (ENSG00000153832), WDR64 (ENSG00000162843), FBXW12 (ENSG00000164049), BTRC (ENSG00000166167), FBXW8 (ENSG00000174989), PAAF1 (ENSG00000175575), WDR86 (ENSG00000187260), FBXO16 (ENSG00000214050), EFCAB8 (ENSG00000215529)

Protein

Protein identifiers

Cilia- and flagella-associated protein 337Q8IV35 (reviewed: Q8IV35)

Alternative names: WD repeat-containing protein 49

All UniProt accessions (8): Q8IV35, A0A3B3IS43, C9IZ29, C9JY37, E9PDB0, F8WAZ9, H0Y8A5, H7C4Y4

UniProt curated annotations — full annotation on UniProt →

Function. Associates with components of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility, and might act as an inner dynein arm (IDA) hub or linkage.

Subunit / interactions. Associates with components of the nexin-dynein regulatory complex (N-DRC) and the CFAP184:CFAP263 complex.

Subcellular location. Cell projection. Cilium.

Similarity. Belongs to the CFAP337 family.

Isoforms (3)

UniProt IDNamesCanonical?
Q8IV35-11yes
Q8IV35-23
Q8IV35-32

RefSeq proteins (4): NP_001335880, NP_001335881, NP_001353086, NP_001353087 (=MANE)

Domains & families (InterPro)

IDNameType
IPR001680WD40_rptRepeat
IPR002048EF_hand_domDomain
IPR011992EF-hand-dom_pairHomologous_superfamily
IPR015943WD40/YVTN_repeat-like_dom_sfHomologous_superfamily
IPR019775WD40_repeat_CSConserved_site
IPR020472WD40_PAC1Repeat
IPR036322WD40_repeat_dom_sfHomologous_superfamily
IPR051242WD-EF-hand_domainFamily

Pfam: PF00400

UniProt features (18 total): repeat 9, splice variant 3, sequence variant 2, chain 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8IV35-F171.920.27

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 38 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GSE45365_NK_CELL_VS_BCELL_DN, LHX3_01, chr3q26, TGIF_01, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, GOCC_CILIUM, DODD_NASOPHARYNGEAL_CARCINOMA_DN, SOX3_TARGET_GENES, ZIM3_TARGET_GENES, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_2, TGACAGNY_MEIS1_01, GR_Q6_01, PBX1_01, CTTTAAR_UNKNOWN

GO Biological Process (0):

GO Molecular Function (2): calcium ion binding (GO:0005509), protein binding (GO:0005515)

GO Cellular Component (2): cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
metal ion binding1
binding1
intraciliary transport particle1
membrane-bounded organelle1
plasma membrane bounded cell projection1
cellular anatomical structure1

Protein interactions and networks

STRING

286 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
WDR49ZBBXA8MT70718
WDR49TMEM253P0C7T8583
WDR49GOLGA8CPA6NN73580
WDR49PLEKHH3Q7Z736577
WDR49LRRC74AQ0VAA2573
WDR49A0A0G2JP48A0A0G2JP48543
WDR49ARMCX2Q7L311530
WDR49SERPINI2O75830514
WDR49FAM124AQ86V42513
WDR49CROCC2H7BZ55507
WDR49GRIFINA4D1Z8499
WDR49IFT70AQ86WT1477
WDR49ASB15Q8WXK1475
WDR49PIGKQ92643468
WDR49FRMD7Q6ZUT3465

IntAct

4 interactions, top by confidence:

ABTypeScore
CFAP337ARHGAP17psi-mi:“MI:0915”(physical association)0.560
CFAP337ARHGAP17psi-mi:“MI:0914”(association)0.560
CFAP337HMGN2psi-mi:“MI:0915”(physical association)0.400

BioGRID (4): ARHGAP17 (Affinity Capture-MS), WDR49 (Proximity Label-MS), ARHGAP17 (Affinity Capture-MS), L3MBTL1 (Affinity Capture-MS)

ESM2 similar proteins: A0JMR6, A2RRS8, A6NFN9, A8MPX8, B1ANS9, O15297, O75747, P25022, P79457, Q08AW4, Q14680, Q14AW5, Q15052, Q2IBB1, Q2IBB4, Q2IBG0, Q2QL84, Q2QLH1, Q3MJ13, Q3US16, Q4R3G4, Q4R7Q1, Q5H913, Q5JTW2, Q5R5T0, Q5R6E1, Q5RFQ4, Q5SUS0, Q5XGI3, Q5XX13, Q5XXR3, Q692V3, Q6P2S7, Q6P3V7, Q7XVF9, Q86VS3, Q8BVT6, Q8C0W1, Q8C5W4, Q8IV35

Diamond homologs: A0JMQ0, A1CJY4, A1D3F5, A1D7I5, A2QEV8, A3LX18, A4RDD7, A5DGL8, A5DVY3, A6RUL1, A6ZMK5, A7EF03, A7RM20, A7TH19, A8ID74, A8QBF3, A8WVX8, B0BNA7, B0WC36, B0XFT7, B0XYC8, B3MHX6, B3MVL6, B3N4C7, B3NLK7, B4GIU9, B4GSH1, B4HN85, B4I195, B4J9K1, B4JB43, B4KGX9, B4KQU8, B4LKS9, B4LUA5, B4MYI5, B4N0L0, B4NW98, B4P528, B4Q354

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance97
Likely benign11
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4087 predictions. Top by Δscore:

VariantEffectΔscore
3:167531275:TGTAT:Tacceptor_gain1.0000
3:167531277:TAT:Tacceptor_gain1.0000
3:167531279:TC:Tacceptor_loss1.0000
3:167531280:C:CCacceptor_gain1.0000
3:167531281:T:Gacceptor_loss1.0000
3:167532974:CTCC:Cacceptor_gain1.0000
3:167560228:CCTAA:Cacceptor_loss1.0000
3:167560229:C:CAacceptor_loss1.0000
3:167560230:T:Cacceptor_loss1.0000
3:167566828:A:ACdonor_gain1.0000
3:167566829:C:CAdonor_gain1.0000
3:167602276:C:CCacceptor_gain1.0000
3:167602281:C:CTacceptor_gain1.0000
3:167602282:A:Tacceptor_gain1.0000
3:167602286:T:TCacceptor_gain1.0000
3:167604469:C:CCacceptor_gain1.0000
3:167482067:CAAA:Cdonor_gain0.9900
3:167482068:AAAA:Adonor_gain0.9900
3:167500151:A:ACdonor_gain0.9900
3:167500152:C:CCdonor_gain0.9900
3:167500317:T:Cacceptor_gain0.9900
3:167500317:T:TCacceptor_gain0.9900
3:167531109:TTTTA:Tdonor_loss0.9900
3:167531110:TTTA:Tdonor_loss0.9900
3:167531111:TTAC:Tdonor_loss0.9900
3:167531112:TAC:Tdonor_loss0.9900
3:167531114:C:Adonor_loss0.9900
3:167531114:CCTG:Cdonor_gain0.9900
3:167531276:GTAT:Gacceptor_gain0.9900
3:167531278:AT:Aacceptor_gain0.9900

AlphaMissense

6982 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
3:167602142:G:CS79R0.996
3:167602142:G:TS79R0.996
3:167602144:T:GS79R0.996
3:167560220:G:CS165R0.994
3:167560220:G:TS165R0.994
3:167560222:T:GS165R0.994
3:167576139:A:GW89R0.989
3:167576139:A:TW89R0.989
3:167602243:A:GW46R0.982
3:167602243:A:TW46R0.982
3:167602275:G:TA35E0.981
3:167532951:A:GW309R0.978
3:167532951:A:TW309R0.978
3:167529063:A:GW447R0.976
3:167529063:A:TW447R0.976
3:167602245:A:GL45P0.975
3:167529200:A:TV401D0.974
3:167576137:C:AW89C0.974
3:167576137:C:GW89C0.974
3:167602176:A:TV68D0.974
3:167575966:G:CS146R0.973
3:167575966:G:TS146R0.973
3:167575968:T:GS146R0.973
3:167536942:A:GW276R0.971
3:167536942:A:TW276R0.971
3:167532973:A:CS301R0.969
3:167532973:A:TS301R0.969
3:167532975:T:GS301R0.969
3:167602149:A:GL77P0.969
3:167529098:A:GL435P0.968

dbSNP variants (sampled 300 via entrez): RS1000025944 (3:167492938 G>A), RS1000047162 (3:167548856 C>A), RS1000059337 (3:167586676 C>T), RS1000094262 (3:167648910 TAC>T), RS1000116825 (3:167499432 T>G), RS1000134126 (3:167563138 G>A), RS1000141713 (3:167513457 G>A), RS1000155933 (3:167556130 C>A), RS1000173610 (3:167580352 C>G), RS1000219835 (3:167612143 C>A,G,T), RS1000221105 (3:167530781 G>T), RS1000264784 (3:167550170 A>G), RS1000268248 (3:167580012 G>C,T), RS1000285656 (3:167569151 C>T), RS1000295813 (3:167506113 C>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): prostate cancer (MONDO:0008315)

Orphanet (1): Familial prostate cancer (Orphanet:1331)

HPO phenotypes

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

GWAS associations

9 associations (top):

StudyTraitp-value
GCST001525_6Visceral fat2.000000e-06
GCST004048_1Fast beta electroencephalogram5.000000e-09
GCST004599_84Mean platelet volume6.000000e-19
GCST010135_19Oily fish consumption3.000000e-10
GCST010136_12Fruit consumption1.000000e-08
GCST010140_11Pork consumption3.000000e-10
GCST010142_12Fish- and plant-related diet1.000000e-11
GCST010796_1427Electrocardiogram morphology (amplitude at temporal datapoints)3.000000e-08
GCST90002395_394Mean platelet volume8.000000e-55

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0004357electroencephalogram measurement
EFO:0008111diet measurement
EFO:0004327electrocardiography

MeSH disease descriptors (1)

DescriptorNameTree numbers
D011471Prostatic NeoplasmsC04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

ChemicalActions (top 5)PubMed papers
graphene oxideincreases expression1
licochalcone Bincreases expression1
Air Pollutantsincreases abundance, increases expression1
Arsenicaffects methylation1
Cadmiumdecreases expression, increases abundance1
Smokeincreases abundance, increases expression1
Thimerosalincreases expression1
Tobacco Smoke Pollutionaffects expression1
Aflatoxin B1increases methylation1
Antirheumatic Agentsdecreases expression1
Cadmium Chlorideincreases abundance, decreases expression1
Okadaic Acidincreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00029224PHASE4COMPLETEDTreatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997PHASE4COMPLETEDOpen-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609PHASE4COMPLETEDThe Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623PHASE4SUSPENDEDThe Plenaxis® Experience Study
NCT00106392PHASE4COMPLETEDA Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029PHASE4UNKNOWNMR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485PHASE4COMPLETEDAngelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219PHASE4COMPLETEDZoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271PHASE4COMPLETEDEffect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146PHASE4COMPLETEDStudy to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554PHASE4COMPLETEDOpen-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098PHASE4COMPLETEDDocetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696PHASE4COMPLETEDCasodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139PHASE4COMPLETEDEffect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765PHASE4COMPLETEDEffects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690PHASE4COMPLETEDEvaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708PHASE4COMPLETEDLocal Anesthesia for Prostate Biopsy
NCT00526331PHASE4COMPLETEDEvaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213PHASE4COMPLETEDCompare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330PHASE4TERMINATEDDissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966PHASE4COMPLETEDRadical Prostatectomy and Perioperative Fluid Therapy
NCT00805701PHASE4COMPLETEDStudy Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027PHASE4COMPLETEDEffect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269PHASE4UNKNOWNCan Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277PHASE4COMPLETEDStudy of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800PHASE4COMPLETEDDoes Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199PHASE4COMPLETEDGlobal Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226PHASE4COMPLETEDEvaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563PHASE4COMPLETEDRandomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905PHASE4COMPLETEDStudy to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672PHASE4COMPLETED3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143PHASE4TERMINATEDProspective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742PHASE4UNKNOWNComparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563PHASE4COMPLETEDHydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874PHASE4COMPLETEDEfficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472PHASE4TERMINATEDFirmagon (Degarelix) Intermittent Therapy
NCT01547416PHASE4COMPLETEDThe Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544PHASE4COMPLETEDThe Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749PHASE4UNKNOWNEvaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635PHASE4COMPLETEDStudy of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer

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