WDR44

Summary

WDR44 (WD repeat domain 44, HGNC:30512) is a protein-coding gene on chromosome Xq24, encoding WD repeat-containing protein 44 (Q5JSH3). Downstream effector for Rab11 which regulates Rab11 intracellular membrane trafficking functions such as endocytic recycling, intracellular ciliogenesis and protein export. It is a selective cancer dependency (DepMap: 11.2% of cell lines).

This gene encodes a protein that interacts with the small GTPase rab11. A similar protein in rat binds the GTP-containing active form of rab11. This protein may play a role in endosome recycling. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 54521 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliopathy (Strong, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 300 total — 1 likely-pathogenic
• Cancer dependency (DepMap): dependent in 11.2% of screened cell lines
• MANE Select transcript: NM_019045

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30512
Approved symbol	WDR44
Name	WD repeat domain 44
Location	Xq24
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp686L20145, RPH11, RAB11BP, SYM-4
Ensembl gene	ENSG00000131725
Ensembl biotype	protein_coding
OMIM	301070
Entrez	54521

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 16 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000254029, ENST00000371822, ENST00000371825, ENST00000371848, ENST00000493448, ENST00000859392, ENST00000859393, ENST00000859394, ENST00000859395, ENST00000859396, ENST00000859397, ENST00000935940, ENST00000935941, ENST00000935942, ENST00000947513, ENST00000947514, ENST00000947515

RefSeq mRNA: 3 — MANE Select: NM_019045 NM_001184965, NM_001184966, NM_019045

CCDS: CCDS14572, CCDS55482, CCDS55483

Canonical transcript exons

ENST00000254029 — 20 exons

Exon	Start	End
ENSE00000899839	118410895	118410959
ENSE00000899840	118432781	118432894
ENSE00000899841	118436702	118436824
ENSE00000899842	118441368	118441559
ENSE00000899843	118442244	118442345
ENSE00000899844	118442565	118442680
ENSE00000899847	118444360	118444494
ENSE00001239473	118443560	118443687
ENSE00001603035	118409489	118409627
ENSE00001610239	118398387	118398470
ENSE00001647971	118396970	118397106
ENSE00001650999	118378419	118378452
ENSE00001676257	118394055	118394185
ENSE00001686354	118404338	118404444
ENSE00001686743	118392632	118393271
ENSE00001730723	118395249	118395344
ENSE00001774110	118406875	118407026
ENSE00001823994	118346106	118346580
ENSE00001875691	118448893	118449961
ENSE00003694011	118387340	118387414

Expression profiles

Bgee: expression breadth ubiquitous, 277 present calls, max score 96.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.7008 / max 217.0966, expressed in 1810 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
197349	18.2519	1806
197352	0.6520	360
197350	0.4059	191
197348	0.2433	91
197351	0.1475	50

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	96.42	gold quality
calcaneal tendon	UBERON:0003701	88.24	gold quality
tendon of biceps brachii	UBERON:0008188	88.24	gold quality
corpus callosum	UBERON:0002336	87.90	gold quality
tendon	UBERON:0000043	87.81	gold quality
esophagus squamous epithelium	UBERON:0006920	87.47	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.91	gold quality
germinal epithelium of ovary	UBERON:0001304	86.89	gold quality
gingival epithelium	UBERON:0001949	86.57	gold quality
endothelial cell	CL:0000115	86.55	gold quality
epithelium of esophagus	UBERON:0001976	86.53	gold quality
medial globus pallidus	UBERON:0002477	86.46	gold quality
tibia	UBERON:0000979	85.92	gold quality
oocyte	CL:0000023	85.87	gold quality
gingiva	UBERON:0001828	85.85	gold quality
globus pallidus	UBERON:0001875	85.76	gold quality
choroid plexus epithelium	UBERON:0003911	85.33	gold quality
amniotic fluid	UBERON:0000173	85.25	gold quality
squamous epithelium	UBERON:0006914	85.17	gold quality
jejunal mucosa	UBERON:0000399	84.62	gold quality
visceral pleura	UBERON:0002401	84.49	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.48	gold quality
monocyte	CL:0000576	84.41	gold quality
mononuclear cell	CL:0000842	84.29	gold quality
leukocyte	CL:0000738	84.14	gold quality
middle temporal gyrus	UBERON:0002771	84.11	gold quality
parietal pleura	UBERON:0002400	84.06	gold quality
saphenous vein	UBERON:0007318	84.04	gold quality
pleura	UBERON:0000977	83.93	gold quality
cortical plate	UBERON:0005343	83.84	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

125 targeting WDR44, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5692A	100.00	74.40	6850
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3065-5P	99.97	71.56	3281

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 11.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• GRAF2, WDR44, and MICAL1 mediate Rab8/10/11-dependent export of E-cadherin, MMP14, and CFTR DeltaF508. (PMID:32344433)
• Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. (PMID:38191484)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	wdr44	ENSDARG00000060249
mus_musculus	Wdr44	ENSMUSG00000036769
rattus_norvegicus	Wdr44	ENSRNOG00000029068
drosophila_melanogaster	CG34133	FBGN0083969
caenorhabditis_elegans		WBGENE00006369

Protein

Protein identifiers

WD repeat-containing protein 44 — Q5JSH3 (reviewed: Q5JSH3)

Alternative names: Rab11-binding protein, Rabphilin-11

All UniProt accessions (2): Q5JSH3, H7BY83

UniProt curated annotations — full annotation on UniProt →

Function. Downstream effector for Rab11 which regulates Rab11 intracellular membrane trafficking functions such as endocytic recycling, intracellular ciliogenesis and protein export. ATK1-mediated phosphorylation of WDR44 induces binding to Rab11 which activates endocytic recycling of transferrin receptor back to the plasma membrane. When bound to Rab11, prevents the formation of the ciliogenic Rab11-Rabin8/RAB3IP-RAB11FIP3 complex, therefore inhibiting preciliary trafficking and ciliogenesis. Participates in neo-synthesized protein export by connecting the endoplasmic reticulum (ER) with the endosomal tubule via direct interactions with the integral ER proteins VAPA or VAPB and the endosomal protein GRAFs (GRAF1/ARHGAP26 or GRAF2/ARHGAP10), which facilitates the transfer of proteins such as E-cadherin, MPP14 and CFTR into a Rab8-Rab10-Rab11-dependent export route.

Subunit / interactions. Interacts with the GTP-bound form of RAB11A and RAB11B. Interacts with GRAF1/ARHGAP26 or GRAF2/ARHGAP10; the interaction connects the endoplasmic reticulum (ER) with the endosomal tubule. Interacts (via FFAT-like motif) with VAPA (via MSP domain) or VAPB (via MSP domain); the interaction connects the ER with the endosomal tubule. Does not bind to RAB7, RAB10, RAB14, RAB35 and RAB8A.

Subcellular location. Cytoplasm. Cytosol. Perinuclear region. Endosome membrane. Golgi apparatus. trans-Golgi network.

Post-translational modifications. Phosphorylated by ATK1; the phosphorylation stabilizes its interaction with RAB11A and RAB11B.

Domain organisation. The FFAT-like motif is important for interaction with VAPA or VAPB.

Isoforms (4)

UniProt ID	Names	Canonical?
Q5JSH3-1	1	yes
Q5JSH3-2	2
Q5JSH3-3	3
Q5JSH3-4	4

RefSeq proteins (3): NP_001171894, NP_001171895, NP_061918* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR020472	WD40_PAC1	Repeat
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR040324	WDR44/Dgr2	Family

Pfam: PF00400

UniProt features (80 total): modified residue 24, sequence conflict 17, region of interest 8, repeat 7, compositionally biased region 6, splice variant 6, mutagenesis site 6, sequence variant 2, initiator methionine 1, chain 1, coiled-coil region 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5JSH3-F1	63.01	0.32

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 (24): 2, 3, 11, 27, 50, 66, 71, 81, 96, 126, 158, 219, 262, 271, 342, 344, 349, 403, 470, 471 …

Mutagenesis-validated functional residues (6):

Position	Phenotype
1–15	abolishes interaction with vapa or vapb.
211–257	abolishes interaction with arhgap26 and arhgap10.
342	phosphoinactive mutant. impaired interaction with rab11a; when associated with a-344. induced ciliogenesis in serum-star
342	phosphomimetic mutant. no ciliogenesis induction in serum-starved conditions; when associated with d-344.
344	phosphoinactive mutant. impaired interaction with rab11a; when associated with a-342. increased ciliogenesis in serum-st
344	phosphomimetic mutant. no ciliogenesis induction in serum-starved conditions; when associated with d-342.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 175 (showing top): RNGTGGGC_UNKNOWN, TGCGCANK_UNKNOWN, GOBP_VESICLE_MEDIATED_TRANSPORT, GOMF_GTPASE_BINDING, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_ORGANELLE_ASSEMBLY, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GTGCCTT_MIR506, CEBP_Q2, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CILIUM_ORGANIZATION, AGGAGTG_MIR483, HFH3_01, GOBP_ORGANELLE_ASSEMBLY

GO Biological Process (6): regulation of vesicle-mediated transport (GO:0060627), cytosolic ciliogenesis (GO:0061824), negative regulation of cilium assembly (GO:1902018), Golgi to plasma membrane protein transport (GO:0043001), positive regulation of cilium assembly (GO:0045724), protein localization to cilium (GO:0061512)

GO Molecular Function (3): small GTPase binding (GO:0031267), molecular sequestering activity (GO:0140313), protein binding (GO:0005515)

GO Cellular Component (7): Golgi apparatus (GO:0005794), cytosol (GO:0005829), endosome membrane (GO:0010008), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), endosome (GO:0005768), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cilium assembly	3
cytoplasm	3
regulation of cilium assembly	2
endomembrane system	2
vesicle-mediated transport	1
regulation of cellular process	1
regulation of transport	1
negative regulation of plasma membrane bounded cell projection assembly	1
negative regulation of organelle assembly	1
Golgi to plasma membrane transport	1
protein transport	1
establishment of protein localization to plasma membrane	1
protein localization to plasma membrane	1
positive regulation of plasma membrane bounded cell projection assembly	1
positive regulation of organelle assembly	1
protein localization to organelle	1
GTPase binding	1
molecular_function	1
binding	1
intracellular membrane-bounded organelle	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
intracellular anatomical structure	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

852 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WDR44	SLC25A40	Q8TBP6	541
WDR44	RAB3GAP1	Q15042	523
WDR44	AQR	O60306	499
WDR44	VEZF1	Q14119	490
WDR44	A0A087WVV2	A0A087WVV2	488
WDR44	PANK4	Q9NVE7	480
WDR44	SLC6A6	P31641	471
WDR44	SEC61G	P38384	465
WDR44	RAB11FIP4	Q86YS3	453
WDR44	RAB3GAP2	Q9H2M9	453
WDR44	FXYD3	Q14802	451
WDR44	RABGEF1	Q9UJ41	441
WDR44	CLEC16A	Q2KHT3	437
WDR44	KANSL2	Q9H9L4	431
WDR44	VAPA	Q9P0L0	395

IntAct

71 interactions, top by confidence:

A	B	Type	Score
RAB11A	EVI5	psi-mi:“MI:0914”(association)	0.800
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
KBTBD7	METTL15	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
VAPA	FAM83G	psi-mi:“MI:0914”(association)	0.640
RAB11B	SH3BP5	psi-mi:“MI:0914”(association)	0.640
VAPA	PITPNM1	psi-mi:“MI:0914”(association)	0.640
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
INSR	PIK3R2	psi-mi:“MI:2364”(proximity)	0.570
WDR44	PECAM1	psi-mi:“MI:0915”(physical association)	0.560
GRB2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.530
MANSC1	KLRG2	psi-mi:“MI:0914”(association)	0.530
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
HAVCR2	TCAF2	psi-mi:“MI:0914”(association)	0.530
DLK1	TCAF2	psi-mi:“MI:0914”(association)	0.530
VSIG4	TCAF2	psi-mi:“MI:0914”(association)	0.530
TPCN2	AP3B1	psi-mi:“MI:0914”(association)	0.530
TGFBR2	PIK3R2	psi-mi:“MI:0914”(association)	0.530
RAB11A	SH3BP5	psi-mi:“MI:0914”(association)	0.530
Rab11a	EVI5	psi-mi:“MI:0914”(association)	0.350

BioGRID (147): WDR44 (Affinity Capture-MS), WDR44 (Affinity Capture-MS), WDR44 (Affinity Capture-MS), WDR44 (Affinity Capture-MS), WDR44 (Affinity Capture-MS), WDR44 (Affinity Capture-MS), WDR44 (Affinity Capture-MS), WDR44 (Affinity Capture-MS), WDR44 (Affinity Capture-MS), WDR44 (Affinity Capture-MS), WDR44 (Affinity Capture-MS), WDR44 (Affinity Capture-MS), ACSF2 (Affinity Capture-MS), WDR44 (Affinity Capture-MS), WDR44 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IXF6, A1A5R8, A9ZLX4, D3YXJ0, E9PUQ8, G3UZ78, O00750, O15164, O54828, P30052, P40818, P48984, P52963, P59997, P97496, Q02225, Q08AX9, Q08BR4, Q08D35, Q16760, Q1LUC3, Q2I6J1, Q3UWM4, Q498F0, Q5JSH3, Q5JTW2, Q5RHD1, Q60665, Q64398, Q68FF0, Q6INA9, Q6NSI8, Q6NVE8, Q6PDG5, Q6ZMT4, Q7ZVP1, Q80U87, Q86XP1, Q8C5W4, Q8N7X0

Diamond homologs: O22785, O60136, Q03177, Q3MKM6, Q498F0, Q5JSH3, Q6LA54, Q6NVE8, Q6S7B0, Q8SQS4, Q9LFE2, Q9R037, Q9UT85, Q9XSC3, U4PCM1, P32330, Q6GPP0, O00628, P39108, P97865, Q06440, Q54ZP5, Q8R537, A0CH87, A0DB19, A2QP30, A4R3M4, A7EKM8, A8PWQ8, A8WGE3, B0R0D7, B6K1G6, B8M0Q1, B8N9H4, C5FWH1, C7Z6H2, D5GBI7, F1LTR1, G0SC29, O13923

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 82 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:

Pathway	Partners	Fold	FDR
Constitutive Signaling by Aberrant PI3K in Cancer	6	14.6×	5e-04
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	7	13.0×	2e-04
RAF/MAP kinase cascade	10	11.7×	5e-06
PIP3 activates AKT signaling	7	9.0×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of MAPK cascade	8	9.1×	7e-04
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	8	8.8×	7e-04
positive regulation of cell migration	10	8.7×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	71
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4532150	NM_019045.5(WDR44):c.1163T>A (p.Ile388Asn)	Likely pathogenic

SpliceAI

3314 predictions. Top by Δscore:

Variant	Effect	Δscore
X:118346576:GTGGG:G	donor_gain	1.0000
X:118346578:GGG:G	donor_gain	1.0000
X:118346579:GG:G	donor_gain	1.0000
X:118346579:GGG:G	donor_gain	1.0000
X:118346580:GG:G	donor_gain	1.0000
X:118346580:GGT:G	donor_loss	1.0000
X:118346581:G:GG	donor_gain	1.0000
X:118346581:GTA:G	donor_loss	1.0000
X:118346582:T:A	donor_loss	1.0000
X:118378451:AGGTA:A	donor_loss	1.0000
X:118378453:G:GG	donor_gain	1.0000
X:118378454:T:A	donor_loss	1.0000
X:118394053:A:AG	acceptor_gain	1.0000
X:118394054:G:GG	acceptor_gain	1.0000
X:118396962:A:AG	acceptor_gain	1.0000
X:118396963:A:AG	acceptor_gain	1.0000
X:118396968:AG:A	acceptor_gain	1.0000
X:118396969:GG:G	acceptor_gain	1.0000
X:118396969:GGA:G	acceptor_gain	1.0000
X:118396969:GGAA:G	acceptor_gain	1.0000
X:118396969:GGAAA:G	acceptor_gain	1.0000
X:118397102:GTAAG:G	donor_gain	1.0000
X:118397105:AGGTA:A	donor_loss	1.0000
X:118397107:G:GG	donor_gain	1.0000
X:118398381:TTACA:T	acceptor_loss	1.0000
X:118398382:TACA:T	acceptor_loss	1.0000
X:118398384:CA:C	acceptor_loss	1.0000
X:118398385:A:AC	acceptor_loss	1.0000
X:118398385:A:AG	acceptor_gain	1.0000
X:118398386:G:GT	acceptor_gain	1.0000

AlphaMissense

6021 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:118396974:T:C	I353T	1.000
X:118396974:T:G	I353S	1.000
X:118396977:T:C	L354S	1.000
X:118397025:T:C	L370S	1.000
X:118397025:T:G	L370W	1.000
X:118397067:T:A	L384H	1.000
X:118397067:T:C	L384P	1.000
X:118397073:T:C	L386P	1.000
X:118407004:A:C	Q504P	1.000
X:118407010:T:C	L506P	1.000
X:118409493:C:A	A513D	1.000
X:118409496:T:A	V514D	1.000
X:118409498:T:A	W515R	1.000
X:118409498:T:C	W515R	1.000
X:118409499:G:C	W515S	1.000
X:118409500:G:C	W515C	1.000
X:118409500:G:T	W515C	1.000
X:118409510:T:C	F519L	1.000
X:118409511:T:C	F519S	1.000
X:118409512:T:A	F519L	1.000
X:118409512:T:G	F519L	1.000
X:118409514:C:A	S520Y	1.000
X:118409514:C:T	S520F	1.000
X:118409522:G:C	G523R	1.000
X:118409523:G:A	G523D	1.000
X:118409523:G:T	G523V	1.000
X:118409529:T:C	L525S	1.000
X:118409532:T:A	L526H	1.000
X:118409532:T:C	L526P	1.000
X:118409532:T:G	L526R	1.000

dbSNP variants (sampled 300 via entrez): RS1000027671 (X:118361623 G>C), RS1000039224 (X:118413048 G>A), RS1000093580 (X:118398966 G>A), RS1000106684 (X:118419670 G>A), RS1000113697 (X:118358654 G>A), RS1000217572 (X:118382966 C>G,T), RS1000234283 (X:118423318 A>G), RS1000364256 (X:118392552 G>A), RS1000410730 (X:118402382 C>A,T), RS1000431765 (X:118413463 G>A), RS1000464229 (X:118449395 AT>A,ATT), RS1000520982 (X:118385930 A>G), RS1000524952 (X:118358339 T>A,C), RS1000550339 (X:118385547 A>G), RS1000578495 (X:118449926 G>A)

Disease associations

OMIM: gene MIM:301070 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
ciliopathy	Strong	X-linked

Mondo (1): ciliopathy (MONDO:0005308)

Orphanet (1): Ciliopathy (Orphanet:363250)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008154_57	Trunk fat mass	5.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases mutagenesis	3
Quercetin	decreases expression, increases phosphorylation	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bufotalin	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
bisphenol A	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, decreases reaction	1
sulforaphane	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	decreases phosphorylation	1
methacrylaldehyde	decreases expression, increases abundance, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
jinfukang	decreases expression	1
(+)-JQ1 compound	increases expression	1
bisphenol AF	increases expression	1
Bortezomib	increases expression	1
Acrolein	decreases expression, increases abundance, affects cotreatment	1
Air Pollutants	decreases expression, increases abundance, affects cotreatment	1
Atrazine	decreases expression	1
Caffeine	affects phosphorylation	1
Demecolcine	increases expression	1
Dimethyl Sulfoxide	increases expression	1
Endosulfan	decreases expression	1
Furaldehyde	decreases expression, affects cotreatment, affects localization	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00068224	Not specified	COMPLETED	Clinical and Molecular Investigations Into Ciliopathies
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)