WDR45B

Summary

WDR45B (WD repeat domain 45B, HGNC:25072) is a protein-coding gene on chromosome 17q25.3, encoding WD repeat domain phosphoinositide-interacting protein 3 (Q5MNZ6). Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation.

This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene.

Source: NCBI Gene 56270 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures (Strong, GenCC)
• Clinical variants (ClinVar): 62 total — 1 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 25
• MANE Select transcript: NM_019613

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25072
Approved symbol	WDR45B
Name	WD repeat domain 45B
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	WIPI3
Ensembl gene	ENSG00000141580
Ensembl biotype	protein_coding
OMIM	609226
Entrez	56270

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 13 protein_coding, 4 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000392325, ENST00000571767, ENST00000571817, ENST00000571835, ENST00000572583, ENST00000573616, ENST00000573656, ENST00000574828, ENST00000576517, ENST00000577774, ENST00000910942, ENST00000910943, ENST00000910944, ENST00000910945, ENST00000910946, ENST00000910947, ENST00000910948, ENST00000927069, ENST00000927070, ENST00000927071, ENST00000927072, ENST00000927073

RefSeq mRNA: 1 — MANE Select: NM_019613 NM_019613

CCDS: CCDS11815

Canonical transcript exons

ENST00000392325 — 10 exons

Exon	Start	End
ENSE00001313378	82614562	82616025
ENSE00002671584	82648274	82648444
ENSE00003494022	82630921	82631022
ENSE00003528379	82617296	82617397
ENSE00003547176	82625389	82625483
ENSE00003549594	82619043	82619128
ENSE00003568332	82627204	82627291
ENSE00003587260	82643949	82644023
ENSE00003610644	82621609	82621799
ENSE00003683440	82616524	82616645

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 49.3795 / max 309.2204, expressed in 1818 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168998	49.3034	1818
168995	0.0762	26

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	99.00	gold quality
oocyte	CL:0000023	98.96	gold quality
epithelium of nasopharynx	UBERON:0001951	98.57	gold quality
type B pancreatic cell	CL:0000169	98.54	gold quality
right uterine tube	UBERON:0001302	98.09	gold quality
pharyngeal mucosa	UBERON:0000355	97.88	gold quality
nasal cavity epithelium	UBERON:0005384	97.76	gold quality
gingival epithelium	UBERON:0001949	97.70	gold quality
lower esophagus mucosa	UBERON:0035834	97.68	gold quality
epithelium of bronchus	UBERON:0002031	97.55	gold quality
bronchus	UBERON:0002185	97.52	gold quality
upper arm skin	UBERON:0004263	97.41	gold quality
bronchial epithelial cell	CL:0002328	97.37	gold quality
CA1 field of hippocampus	UBERON:0003881	97.34	gold quality
nasal cavity mucosa	UBERON:0001826	97.32	gold quality
squamous epithelium	UBERON:0006914	97.32	gold quality
cervix squamous epithelium	UBERON:0006922	97.26	silver quality
esophagus squamous epithelium	UBERON:0006920	97.10	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.08	gold quality
germinal epithelium of ovary	UBERON:0001304	97.06	gold quality
esophagus mucosa	UBERON:0002469	96.99	gold quality
epithelium of esophagus	UBERON:0001976	96.96	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.96	gold quality
mammary duct	UBERON:0001765	96.89	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.88	gold quality
palpebral conjunctiva	UBERON:0001812	96.86	gold quality
cervix epithelium	UBERON:0004801	96.86	gold quality
spinal cord	UBERON:0002240	96.84	gold quality
left ovary	UBERON:0002119	96.82	gold quality
gingiva	UBERON:0001828	96.80	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting WDR45B, 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-6873-3P	100.00	71.42	2626
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-4643	99.49	67.63	1791
HSA-MIR-657	99.48	66.02	848
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-135A-5P	99.36	71.85	1601
HSA-MIR-135B-5P	99.36	71.63	1613
HSA-MIR-12113	99.32	67.54	1072

Literature-anchored findings (GeneRIF, showing 4)

• WDR45B has been identified as a potential intellectual disability gene through genomic sequencing of 2 large cohorts of affected individuals. In this report we present 6 individuals from 3 unrelated families with homozygous pathogenic variants in WDR45B: c.799C>T (p.Q267*) in 1 family and c.673C>T (p.R225*) in 2 families (PMID:28503735)
• WIPI3 and WIPI4 beta-propellers have roles as scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy (PMID:28561066)
• Multi-site-mediated entwining of the linear WIR-motif around WIPI beta-propellers for autophagy. (PMID:32483132)
• A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review. (PMID:35962600)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	wdr45b	ENSDARG00000021557
mus_musculus	Wdr45b	ENSMUSG00000025173
rattus_norvegicus	Wdr45b	ENSRNOG00000036662
drosophila_melanogaster	CG11975	FBGN0037648

Paralogs (3): WIPI1 (ENSG00000070540), WIPI2 (ENSG00000157954), WDR45 (ENSG00000196998)

Protein

Protein identifiers

WD repeat domain phosphoinositide-interacting protein 3 — Q5MNZ6 (reviewed: Q5MNZ6)

Alternative names: WD repeat-containing protein 45-like, WD repeat-containing protein 45B, WIPI49-like protein

All UniProt accessions (5): Q5MNZ6, I3L1D0, I3L3A5, I3L4L8, I3L4S6

UniProt curated annotations — full annotation on UniProt →

Function. Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation. Binds phosphatidylinositol 3-phosphate (PtdIns3P), and other phosphoinositides including PtdIns(3,5)P2, forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases and is recruited at phagophore assembly sites where it regulates the elongation of nascent phagophores downstream of WIPI2. In the cellular response to starvation, may also function together with the TSC1-TSC2 complex and RB1CC1 in the inhibition of the mTORC1 signaling pathway.

Subunit / interactions. Interacts with the TSC1-TSC2 complex; stimulated upon starvation. Interacts with RB1CC1. Interacts with ATG2A.

Subcellular location. Preautophagosomal structure. Lysosome.

Tissue specificity. Ubiquitously expressed. Highly expressed in heart, skeletal muscle and pancreas. Up-regulated in a variety of tumor tissues including ovarian and uterine cancers.

Disease relevance. Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures (NEDSBAS) [MIM:617977] An autosomal recessive disorder characterized by profound developmental delay, progressive spastic quadriplegia and contractures, early-onset refractory epilepsy in most patients, and brain malformations. Neuroimaging shows ventriculomegaly, reduced cerebral white matter volume, and thinning of cerebral gray matter. The disease may be caused by variants affecting the gene represented in this entry.

Domain organisation. The L/FRRG motif is required for recruitment to PtdIns3P.

Similarity. Belongs to the WD repeat PROPPIN family.

RefSeq proteins (1): NP_062559* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR048720	PROPPIN	Family

Pfam: PF21032

UniProt features (64 total): strand 27, mutagenesis site 16, repeat 7, sequence conflict 5, turn 3, sequence variant 2, helix 2, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
6IYY	X-RAY DIFFRACTION	1.8
6KLR	X-RAY DIFFRACTION	2.21
8ZQG	X-RAY DIFFRACTION	2.77
9CE3	ELECTRON MICROSCOPY	2.9
9C9I	X-RAY DIFFRACTION	3.18

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5MNZ6-F1	94.78	0.90

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (16):

Position	Phenotype
19–22	abolished interaction with atg2a.
35	strongly decreased interaction with atg2a; when associated with 59-q–a-62.
59–62	strongly decreased interaction with atg2a; when associated with q-35.
62	does not affect binding to phosphoinositides.
65	strongly decreased interaction with atg2a; when associated with a-125.
96–98	strongly decreased interaction with atg2a.
125	strongly decreased interaction with atg2a; when associated with a-65.
184	abolished binding to phosphoinositides.
204	abolished binding to phosphoinositides.
206	abolished binding to phosphoinositides.
208	abolished binding to phosphoinositides.
211	abolished binding to phosphoinositides.
225–226	loss of ptdins3p binding.
225	abolished binding to phosphoinositides.
226	abolished binding to phosphoinositides.
255	abolished binding to phosphoinositides.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1632852	Macroautophagy

MSigDB gene sets: 204 (showing top): GOBP_VACUOLE_ORGANIZATION, AAGCCAT_MIR135A_MIR135B, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_MACROAUTOPHAGY, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_POLYSACCHARIDE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_RESPONSE_TO_STARVATION, GOBP_CARBOHYDRATE_CATABOLIC_PROCESS, ATCATGA_MIR433, MODULE_18, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, TTTGCAC_MIR19A_MIR19B

GO Biological Process (8): autophagosome assembly (GO:0000045), autophagy of mitochondrion (GO:0000422), pexophagy (GO:0000425), cellular response to starvation (GO:0009267), protein localization to phagophore assembly site (GO:0034497), nucleophagy (GO:0044804), glycophagy (GO:0061723), autophagy (GO:0006914)

GO Molecular Function (6): protein-macromolecule adaptor activity (GO:0030674), phosphatidylinositol-3-phosphate binding (GO:0032266), TSC1-TSC2 complex binding (GO:0062078), phosphatidylinositol-3,5-bisphosphate binding (GO:0080025), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (4): phagophore assembly site (GO:0000407), lysosome (GO:0005764), cytosol (GO:0005829), phagophore assembly site membrane (GO:0034045)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Autophagy	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
macroautophagy	3
phosphatidylinositol phosphate binding	2
binding	2
cytoplasm	2
cellular anatomical structure	2
Atg12 activating enzyme activity	1
protein-phosphatidylethanolamide deconjugating activity	1
Atg12 conjugating enzyme activity	1
Atg12 ligase activity	1
organelle assembly	1
Atg1/ULK1 kinase complex assembly	1
autophagosome organization	1
autophagy	1
autophagy of peroxisome	1
cellular response to nutrient levels	1
cellular response to stress	1
response to starvation	1
autophagosome assembly	1
intracellular protein localization	1
glycogen catabolic process	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
protein binding	1
molecular adaptor activity	1
protein-containing complex binding	1
phosphatidylinositol bisphosphate binding	1
lytic vacuole	1
phagophore assembly site	1
membrane	1

Protein interactions and networks

STRING

834 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WDR45B	ATG2A	Q2TAZ0	887
WDR45B	OTUD7B	Q6GQQ9	853
WDR45B	ATG2B	Q96BY7	774
WDR45B	ATG12	O94817	603
WDR45B	ATG5	Q9H1Y0	591
WDR45B	EPG5	Q9HCE0	580
WDR45B	PIK3R4	Q99570	580
WDR45B	ATG16L1	Q676U5	562
WDR45B	ATG14	Q6ZNE5	554
WDR45B	WIPI2	Q9Y4P8	549
WDR45B	ATG7	O95352	549
WDR45B	ATG3	Q9NT62	543
WDR45B	PIK3C3	Q8NEB9	530
WDR45B	AMBRA1	Q9C0C7	525
WDR45B	ATG101	Q9BSB4	506

IntAct

67 interactions, top by confidence:

A	B	Type	Score
TFAP4	ANGPTL7	psi-mi:“MI:0914”(association)	0.640
ARRDC1	NEDD4	psi-mi:“MI:0914”(association)	0.640
SARNP	ZC3H11A	psi-mi:“MI:0914”(association)	0.610
PLEKHO1	UBA6	psi-mi:“MI:0914”(association)	0.530
C5orf24	MEIS1	psi-mi:“MI:0914”(association)	0.530
BMX	ARIH2	psi-mi:“MI:0914”(association)	0.530
PLEKHA1	PBX2	psi-mi:“MI:0914”(association)	0.530
RCN1	WDR45B	psi-mi:“MI:0914”(association)	0.530
ASPRV1	WDR45B	psi-mi:“MI:0914”(association)	0.530
PML	NDUFA2	psi-mi:“MI:0914”(association)	0.530
PLEKHN1	ELP1	psi-mi:“MI:0914”(association)	0.530
ILVBL	SLC33A1	psi-mi:“MI:0914”(association)	0.530
BACC1	SMARCA5	psi-mi:“MI:0914”(association)	0.530
S	WDR45B	psi-mi:“MI:0915”(physical association)	0.500
AKR1B1	WDR45B	psi-mi:“MI:0915”(physical association)	0.400
JUN		psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
KHDRBS2	SUPT5H	psi-mi:“MI:0914”(association)	0.350
P2RX5	NOP56	psi-mi:“MI:0914”(association)	0.350
KCNJ5	ERI3	psi-mi:“MI:0914”(association)	0.350
PML		psi-mi:“MI:0914”(association)	0.350
ARRDC1	KDM1A	psi-mi:“MI:0914”(association)	0.350
CNPY2	COL2A1	psi-mi:“MI:0914”(association)	0.350

BioGRID (90): WDR45B (Affinity Capture-MS), WDR45B (Affinity Capture-MS), WDR45B (Affinity Capture-MS), WDR45B (Affinity Capture-MS), WDR45B (Affinity Capture-MS), WDR45B (Affinity Capture-MS), WDR45B (Affinity Capture-MS), WDR45B (Affinity Capture-MS), UBXN10 (Affinity Capture-Western), WDR45B (Affinity Capture-Western), WDR45B (Affinity Capture-MS), WDR45B (Affinity Capture-MS), WDR45B (Affinity Capture-MS), WDR45B (Affinity Capture-MS), WDR45B (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8EXB5, A4QNE6, A8WGF4, C1BK83, O35142, O43684, O55029, P35605, P35606, Q17QU5, Q1JP79, Q1JQB2, Q29RH4, Q29RZ9, Q3UGF1, Q4FZW5, Q4R4I8, Q561Y0, Q5I0B4, Q5M7F6, Q5MNZ6, Q5R664, Q5RB58, Q5U4Y8, Q5VQ78, Q6GNF1, Q6NWV3, Q6PA72, Q6TGU2, Q803V5, Q8AVT9, Q8BGF3, Q8IWZ6, Q8K2G4, Q8L828, Q8NEZ3, Q8VE80, Q92747, Q96J01, Q96MX6

Diamond homologs: A1CBB8, A1DE24, A2RAG5, A3GFE3, A5DHI9, A5DVU7, A6QTX7, A6SJ85, A7A258, A7EW77, A7KAM8, A7TPY4, I1RKA1, O16466, P0CS28, P0CS29, P43601, P50079, Q0CW30, Q0U2J8, Q0WPK3, Q1DKJ3, Q2GV40, Q2U6D5, Q4P4N1, Q4WVD0, Q524W4, Q54NA2, Q59P11, Q5ABA6, Q5BH53, Q5MNZ6, Q5MNZ9, Q5QA94, Q5QJC0, Q5R7W0, Q5ZHN3, Q5ZL16, Q640T2, Q68F45

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
PIP3	“up-regulates activity”	WDR45B	“chemical activation”
WDR45B	“up-regulates quantity”	TSC	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	2
Uncertain significance	31
Likely benign	6
Benign	4

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
523671	NM_019613.4(WDR45B):c.799C>T (p.Gln267Ter)	Pathogenic
191088	NM_019613.4(WDR45B):c.673C>T (p.Arg225Ter)	Likely pathogenic
2503429	NM_019613.4(WDR45B):c.100C>T (p.Arg34Ter)	Likely pathogenic

SpliceAI

2345 predictions. Top by Δscore:

Variant	Effect	Δscore
17:82616641:CCAAA:C	acceptor_gain	1.0000
17:82616642:CAAA:C	acceptor_gain	1.0000
17:82616642:CAAAC:C	acceptor_gain	1.0000
17:82616643:AAA:A	acceptor_gain	1.0000
17:82616643:AAAC:A	acceptor_loss	1.0000
17:82616644:AA:A	acceptor_gain	1.0000
17:82616644:AACT:A	acceptor_loss	1.0000
17:82616646:C:A	acceptor_loss	1.0000
17:82616646:C:CC	acceptor_gain	1.0000
17:82616647:T:G	acceptor_loss	1.0000
17:82617291:CCTA:C	donor_loss	1.0000
17:82617292:CTA:C	donor_loss	1.0000
17:82617293:TA:T	donor_loss	1.0000
17:82617294:A:AC	donor_gain	1.0000
17:82617294:A:AT	donor_loss	1.0000
17:82617295:C:CC	donor_gain	1.0000
17:82617295:C:CG	donor_loss	1.0000
17:82617393:TGATG:T	acceptor_gain	1.0000
17:82617394:GATG:G	acceptor_gain	1.0000
17:82617395:ATG:A	acceptor_gain	1.0000
17:82617396:TG:T	acceptor_gain	1.0000
17:82617396:TGCT:T	acceptor_loss	1.0000
17:82617397:GCTG:G	acceptor_loss	1.0000
17:82617398:C:CC	acceptor_gain	1.0000
17:82617398:CTG:C	acceptor_loss	1.0000
17:82617399:T:C	acceptor_loss	1.0000
17:82618991:T:TA	donor_gain	1.0000
17:82618992:C:A	donor_gain	1.0000
17:82621605:TTACT:T	donor_loss	1.0000
17:82621606:TAC:T	donor_loss	1.0000

AlphaMissense

2275 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:82616529:A:T	V308D	1.000
17:82616597:A:C	S285R	1.000
17:82616597:A:T	S285R	1.000
17:82616599:T:G	S285R	1.000
17:82616600:C:A	W284C	1.000
17:82616600:C:G	W284C	1.000
17:82616602:A:G	W284R	1.000
17:82616602:A:T	W284R	1.000
17:82616616:T:C	Y279C	1.000
17:82616617:A:G	Y279H	1.000
17:82617331:A:C	F257L	1.000
17:82617331:A:T	F257L	1.000
17:82617333:A:G	F257L	1.000
17:82617339:G:C	H255D	1.000
17:82617355:G:C	S249R	1.000
17:82617355:G:T	S249R	1.000
17:82617357:T:G	S249R	1.000
17:82619067:C:A	G227V	1.000
17:82619067:C:T	G227E	1.000
17:82619068:C:G	G227R	1.000
17:82619068:C:T	G227R	1.000
17:82619069:T:A	R226S	1.000
17:82619069:T:G	R226S	1.000
17:82619070:C:A	R226I	1.000
17:82619070:C:G	R226T	1.000
17:82619074:G:C	R225G	1.000
17:82619076:A:G	L224P	1.000
17:82619114:T:A	R211S	1.000
17:82619114:T:G	R211S	1.000
17:82619115:C:A	R211I	1.000

dbSNP variants (sampled 300 via entrez): RS1000075676 (17:82618738 T>C), RS1000235333 (17:82623761 T>A,C), RS1000377304 (17:82634690 C>T), RS1000434233 (17:82628702 AAC>A), RS1000496201 (17:82649377 GACAC>G,GAC), RS1000627995 (17:82631187 G>T), RS1000628198 (17:82615265 C>G,T), RS1000632195 (17:82649676 G>A), RS1000667097 (17:82634503 A>G), RS1000704279 (17:82640156 T>C), RS1000751069 (17:82625856 G>A,C), RS1000891556 (17:82641612 G>T), RS1000914745 (17:82615086 T>C), RS1001099684 (17:82644692 C>A), RS1001166207 (17:82647462 AC>A)

Disease associations

OMIM: gene MIM:609226 | disease phenotypes: MIM:617977

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	Strong	Autosomal recessive

Mondo (1): neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures (MONDO:0060704)

Orphanet (0):

HPO phenotypes

25 total (25 of 25 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000505	Visual impairment
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001258	Spastic paraplegia
HP:0001263	Global developmental delay
HP:0001344	Absent speech
HP:0002079	Hypoplasia of the corpus callosum
HP:0002098	Respiratory distress
HP:0002119	Ventriculomegaly
HP:0002187	Profound intellectual disability
HP:0002510	Spastic tetraplegia
HP:0002540	Inability to walk
HP:0002751	Kyphoscoliosis
HP:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0003676	Progressive
HP:0006872	Cerebral hypoplasia
HP:0008936	Axial hypotonia
HP:0011167	Focal tonic seizure
HP:0030674	Antenatal onset
HP:0034295	Reduced cerebral white matter volume
HP:0034392	Joint contracture

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

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Methotrexate	decreases expression	2
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	affects cotreatment, decreases methylation	1
cobaltous chloride	increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Acrolein	increases abundance, affects cotreatment, increases oxidation	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Diazinon	increases methylation	1
Dietary Carbohydrates	decreases expression	1
Doxorubicin	increases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Tobacco Smoke Pollution	increases expression	1
Cyclosporine	decreases methylation	1
Copper Sulfate	increases expression	1
Volatile Organic Compounds	affects cotreatment, increases oxidation	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E2P1	HAP1 WDR45B (-) 1	Cancer cell line	Male
CVCL_E2P2	HAP1 WDR45B (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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