PPP2R3C

Summary

PPP2R3C (protein phosphatase 2 regulatory subunit B’‘gamma, HGNC:17485) is a protein-coding gene on chromosome 14q13.2, encoding Serine/threonine-protein phosphatase 2A regulatory subunit B’’ subunit gamma (Q969Q6). May regulate MCM3AP phosphorylation through phosphatase recruitment. It is a selective cancer dependency (DepMap: 71.4% of cell lines).

This gene encodes a regulatory subunit of the serine/threonine phosphatase, protein phosphatase 2. This protein is localized to both nuclear and cytoplasmic regions depending on cell cycle phase. Homozygous conditional knockout mice for this gene exhibit reduced numbers and impaired proliferation of immune system B cells. This protein may regulate the expression of the P-glycoprotein ATP-binding cassette transporter through its phosphatase activity. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 55012 — RefSeq curated summary.

At a glance

• Gene–disease (curated): gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 9
• Clinical variants (ClinVar): 15 total — 1 pathogenic
• Phenotypes (HPO): 74
• Cancer dependency (DepMap): dependent in 71.4% of screened cell lines
• MANE Select transcript: NM_017917

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17485
Approved symbol	PPP2R3C
Name	protein phosphatase 2 regulatory subunit B’‘gamma
Location	14q13.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20644, G4-1, G5PR
Ensembl gene	ENSG00000092020
Ensembl biotype	protein_coding
OMIM	615902
Entrez	55012

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 12 protein_coding, 12 nonsense_mediated_decay, 2 retained_intron

ENST00000261475, ENST00000553273, ENST00000553282, ENST00000554222, ENST00000554265, ENST00000554361, ENST00000554488, ENST00000554563, ENST00000554899, ENST00000555219, ENST00000555614, ENST00000555630, ENST00000555644, ENST00000555726, ENST00000556254, ENST00000557074, ENST00000557217, ENST00000557278, ENST00000557288, ENST00000557773, ENST00000892731, ENST00000928307, ENST00000928308, ENST00000928309, ENST00000928310, ENST00000955603

RefSeq mRNA: 3 — MANE Select: NM_017917 NM_001305155, NM_001305156, NM_017917

CCDS: CCDS9654

Canonical transcript exons

ENST00000261475 — 13 exons

Exon	Start	End
ENSE00003531759	35116610	35116737
ENSE00003532390	35087951	35088010
ENSE00003554073	35096558	35096633
ENSE00003558340	35095048	35095184
ENSE00003562280	35099252	35099384
ENSE00003599956	35107304	35107374
ENSE00003623775	35110525	35110629
ENSE00003644083	35085472	35085778
ENSE00003647517	35121902	35121990
ENSE00003679531	35091070	35091207
ENSE00003692784	35109819	35109931
ENSE00003787326	35108139	35108236
ENSE00003790490	35096709	35096764

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 95.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.7477 / max 310.2371, expressed in 1785 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
142839	16.1366	1739
142841	4.0636	1544
142843	2.1684	1153
142842	0.2168	67
142840	0.1622	40

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	95.64	gold quality
left testis	UBERON:0004533	95.60	gold quality
ventricular zone	UBERON:0003053	95.07	gold quality
ganglionic eminence	UBERON:0004023	94.84	gold quality
granulocyte	CL:0000094	94.78	gold quality
monocyte	CL:0000576	94.69	gold quality
leukocyte	CL:0000738	94.65	gold quality
mononuclear cell	CL:0000842	94.59	gold quality
cortical plate	UBERON:0005343	94.59	gold quality
testis	UBERON:0000473	94.41	gold quality
sperm	CL:0000019	94.22	gold quality
blood	UBERON:0000178	93.32	gold quality
calcaneal tendon	UBERON:0003701	93.10	gold quality
adrenal tissue	UBERON:0018303	92.97	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.85	gold quality
male germ cell	CL:0000015	92.82	gold quality
buccal mucosa cell	CL:0002336	92.81	gold quality
adenohypophysis	UBERON:0002196	92.57	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.55	gold quality
anterior cingulate cortex	UBERON:0009835	92.38	gold quality
cingulate cortex	UBERON:0003027	92.28	gold quality
bone marrow	UBERON:0002371	91.90	gold quality
spleen	UBERON:0002106	91.78	gold quality
right frontal lobe	UBERON:0002810	91.71	gold quality
amygdala	UBERON:0001876	91.66	gold quality
pituitary gland	UBERON:0000007	91.60	gold quality
muscle layer of sigmoid colon	UBERON:0035805	91.60	gold quality
prefrontal cortex	UBERON:0000451	91.39	gold quality
bone marrow cell	CL:0002092	91.28	gold quality
descending thoracic aorta	UBERON:0002345	91.26	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.35

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting PPP2R3C, 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-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-6513-3P	99.59	69.77	1102
HSA-MIR-2117	98.48	67.97	1307
HSA-MIR-6502-3P	97.86	65.43	569
HSA-MIR-3059-3P	96.71	67.08	606

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 71.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 6)

• G5PR expression is markedly augmented in the centrocytes of germinal centers after immunization of transgenic mice with T cell-dependent antigen. (PMID:22753944)
• Knockdown of PP5 and/or PPP2R3C increased P-gp expression and lowered the sensitivity to vincristine and doxorubicin. Consequently, results indicate that PP5/PPP2R3C negatively regulates P-gp expression and function. (PMID:24333728)
• findings suggest that protein phosphatase 2 regulatory subunit B (PPP2R3C) is involved in the ontogeny of multiple organs, especially critical for testis development and spermatogenesis (PMID:30893644)
• Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C. (PMID:34714774)
• Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis. (PMID:34750818)
• A disease-associated PPP2R3C-MAP3K1 phospho-regulatory module controls centrosome function. (PMID:39317195)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ppp2r3c	ENSDARG00000043972
mus_musculus	Ppp2r3c	ENSMUSG00000021022
rattus_norvegicus	Ppp2r3c	ENSRNOG00000023591

Protein

Protein identifiers

Serine/threonine-protein phosphatase 2A regulatory subunit B’’ subunit gamma — Q969Q6 (reviewed: Q969Q6)

Alternative names: Protein phosphatase subunit G5PR, Rhabdomyosarcoma antigen MU-RMS-40.6A/6C

All UniProt accessions (13): Q969Q6, A0A0C4DGK2, G3V228, G3V2K1, G3V3T9, G3V3V5, G3V561, G3V5U8, H0YJ16, H0YJC5, H0YJR2, H0YJV0, Q86US5

UniProt curated annotations — full annotation on UniProt →

Function. May regulate MCM3AP phosphorylation through phosphatase recruitment. May act as a negative regulator of ABCB1 expression and function through the dephosphorylation of ABCB1 by TFPI2/PPP2R3C complex. May play a role in the activation-induced cell death of B-cells.

Subunit / interactions. Interacts with MCM3AP/GANP. Interacts with PPP5C, and the phosphatase 2A core enzyme composed of the PPP2CA catalytic subunit and the constant regulatory subunit PPP2R1A. Finds in a complex with ABCB1, TFPI2 and PPP2R3C; leading to the dephosphorylation of ABCB1.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Ubiquitously expressed in brain and other tissues.

Disease relevance. Myoectodermal gonadal dysgenesis syndrome (MEGD) [MIM:618419] An autosomal recessive disorder characterized by 46,XY complete gonadal dysgenesis and extragonadal anomalies, including typical facial gestalt, low birth weight, myopathy, rod and cone dystrophy, anal atresia, omphalocele, sensorineural hearing loss, dry and scaly skin, skeletal abnormalities, renal agenesis and neuromotor delay. The disease is caused by variants affecting the gene represented in this entry. Spermatogenic failure 36 (SPGF36) [MIM:618420] An autosomal dominant infertility disorder due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus. The disease may be caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q969Q6-1	1	yes
Q969Q6-2	2

RefSeq proteins (3): NP_001292084, NP_001292085, NP_060387* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR039865	PPP2R3C	Family
IPR041534	EF-hand_13	Domain

Pfam: PF17958

UniProt features (15 total): binding site 5, sequence variant 3, sequence conflict 3, domain 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q969Q6-F1	90.08	0.73

Functional residue map

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

Ligand- & substrate-binding residues (5): 286; 288; 290; 292; 297

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 402 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_MEMBRANE_DEPOLARIZATION, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_B_CELL_HOMEOSTASIS, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_B_CELL_ACTIVATION, GOBP_T_CELL_HOMEOSTASIS, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GOBP_LYMPHOCYTE_HOMEOSTASIS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_REGULATION_OF_MEMBRANE_DEPOLARIZATION, GGGTGGRR_PAX4_03, GOCC_MICROTUBULE_ORGANIZING_CENTER

GO Biological Process (10): microtubule cytoskeleton organization (GO:0000226), B cell homeostasis (GO:0001782), regulation of antimicrobial humoral response (GO:0002759), cortical cytoskeleton organization (GO:0030865), regulation of dephosphorylation (GO:0035303), T cell homeostasis (GO:0043029), positive regulation of B cell differentiation (GO:0045579), spleen development (GO:0048536), regulation of mitochondrial depolarization (GO:0051900), regulation of B cell activation (GO:0050864)

GO Molecular Function (2): metal ion binding (GO:0046872), protein binding (GO:0005515)

GO Cellular Component (9): nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), centrosome (GO:0005813), cytosol (GO:0005829), cilium (GO:0005929), actin cytoskeleton (GO:0015629), nuclear body (GO:0016604), nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoskeleton organization	2
lymphocyte homeostasis	2
cytoplasm	2
intracellular membrane-bounded organelle	2
microtubule-based process	1
regulation of response to biotic stimulus	1
regulation of humoral immune response	1
antimicrobial humoral response	1
regulation of defense response	1
regulation of response to external stimulus	1
dephosphorylation	1
regulation of metabolic process	1
B cell differentiation	1
regulation of B cell differentiation	1
positive regulation of lymphocyte differentiation	1
positive regulation of B cell activation	1
hematopoietic or lymphoid organ development	1
regulation of membrane depolarization	1
regulation of mitochondrial membrane potential	1
mitochondrial depolarization	1
B cell activation	1
regulation of lymphocyte activation	1
cation binding	1
binding	1
nuclear lumen	1
endomembrane system	1
centriole	1
microtubule organizing center	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoskeleton	1
nucleoplasm	1
intracellular membraneless organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

808 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPP2R3C	ITIH4	Q14624	972
PPP2R3C	PPP2R2A	P50409	778
PPP2R3C	PPP2R2D	Q66LE6	775
PPP2R3C	PPP2R5A	Q15172	763
PPP2R3C	PPP2R2B	Q00005	757
PPP2R3C	PPP2CA	P05323	722
PPP2R3C	PPP2R2C	Q9Y2T4	687
PPP2R3C	PPP2R5B	Q15173	623
PPP2R3C	PPP2R1A	P30153	586
PPP2R3C	PPP2R1B	P30154	543
PPP2R3C	PPP2R3B	Q9Y5P8	533
PPP2R3C	PPP2R5C	Q13362	526
PPP2R3C	PPP2R5E	Q16537	521
PPP2R3C	STRN	O43815	514
PPP2R3C	STRN4	Q9NRL3	512

IntAct

69 interactions, top by confidence:

A	B	Type	Score
PPP2R1A	STRN	psi-mi:“MI:0914”(association)	0.880
PPP2CB	STRN	psi-mi:“MI:0914”(association)	0.790
CEP350	CEP43	psi-mi:“MI:0914”(association)	0.770
CEP19	CEP43	psi-mi:“MI:0914”(association)	0.770
PPP2CB	CEP43	psi-mi:“MI:0914”(association)	0.730
PPP2R1A	PPFIA3	psi-mi:“MI:0914”(association)	0.670
POLR1C	PPP2R3C	psi-mi:“MI:0915”(physical association)	0.560
PPP2R3C	POLR1C	psi-mi:“MI:0915”(physical association)	0.560
PPP2R3C	RTN3	psi-mi:“MI:0915”(physical association)	0.560
	PPP2R3C	psi-mi:“MI:0915”(physical association)	0.560
PPP2R3C	CMTM5	psi-mi:“MI:0915”(physical association)	0.560
RTN3	PPP2R3C	psi-mi:“MI:0915”(physical association)	0.560
PRPF31	PPP2R3C	psi-mi:“MI:0915”(physical association)	0.560
PPP2R3C	SMG9	psi-mi:“MI:0915”(physical association)	0.560
PPP2R3C	FAM161B	psi-mi:“MI:0915”(physical association)	0.560
PPP2R3C	ENKD1	psi-mi:“MI:0915”(physical association)	0.560
PPP2R3C	MOAP1	psi-mi:“MI:0915”(physical association)	0.560
FAM161A	PPP2R3C	psi-mi:“MI:0915”(physical association)	0.560
CCDC146	PPP2R3C	psi-mi:“MI:0915”(physical association)	0.560
PPP2R1A	ENSA	psi-mi:“MI:0914”(association)	0.530
Cep350	CCDC85C	psi-mi:“MI:0915”(physical association)	0.400
Cep43	CEP43	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (68): PPP2R3C (Two-hybrid), PPP2R3C (Two-hybrid), CCDC33 (Two-hybrid), CMTM5 (Two-hybrid), PPP2R3C (Affinity Capture-MS), PPP2R3C (Affinity Capture-MS), PPP2R3C (Two-hybrid), PPP2R3C (Proximity Label-MS), PPP2R3C (Proximity Label-MS), PPP2R3C (Proximity Label-MS), CCDC33 (Two-hybrid), DYNC1H1 (Affinity Capture-MS), ITGB4 (Affinity Capture-MS), MYBL2 (Affinity Capture-MS), PCM1 (Affinity Capture-MS)

ESM2 similar proteins: A2VEI2, A8WQT4, B3MIF1, D6WIX5, O70200, P41044, P55008, P55009, P81076, Q02892, Q1LY46, Q21153, Q295E6, Q3UQ44, Q5E9G1, Q5E9R3, Q5RBP4, Q5TM25, Q5ZK33, Q641Z6, Q6AXZ3, Q6CM00, Q6DJ05, Q6FRV0, Q6GQ76, Q74ZK6, Q803R5, Q803V3, Q8CD10, Q8IQ70, Q8IYU8, Q8R491, Q94CF0, Q95PZ2, Q969Q6, Q99P77, Q9BDK2, Q9BZE4, Q9EQP2, Q9FEE2

Diamond homologs: P42322, Q5E9G1, Q6AXZ3, Q6DJ05, Q803V3, Q969Q6, Q9FEE2, Q9JK24

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PPP2R3C	“up-regulates activity”	PPP5C	binding

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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Mitotic Prometaphase	5	13.8×	3e-04

GO biological processes:

GO term	Partners	Fold	FDR
cilium assembly	7	11.4×	7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	10
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
627425	NM_017917.4(PPP2R3C):c.308T>C (p.Leu103Pro)	Pathogenic

SpliceAI

1839 predictions. Top by Δscore:

Variant	Effect	Δscore
14:35085774:TCATC:T	acceptor_gain	1.0000
14:35085775:CATC:C	acceptor_gain	1.0000
14:35085775:CATCC:C	acceptor_gain	1.0000
14:35085777:TC:T	acceptor_gain	1.0000
14:35085777:TCC:T	acceptor_loss	1.0000
14:35085778:CC:C	acceptor_gain	1.0000
14:35085779:C:CC	acceptor_gain	1.0000
14:35091068:AC:A	donor_gain	1.0000
14:35091069:CC:C	donor_gain	1.0000
14:35091203:TAGTC:T	acceptor_gain	1.0000
14:35091206:TCCT:T	acceptor_loss	1.0000
14:35091207:CCTA:C	acceptor_loss	1.0000
14:35091208:C:CA	acceptor_loss	1.0000
14:35091208:C:CC	acceptor_gain	1.0000
14:35091209:T:C	acceptor_loss	1.0000
14:35095073:T:TA	donor_gain	1.0000
14:35095074:C:CA	donor_gain	1.0000
14:35095186:T:C	acceptor_gain	1.0000
14:35099246:TTTTA:T	donor_loss	1.0000
14:35099247:TTTA:T	donor_loss	1.0000
14:35099248:TTACC:T	donor_loss	1.0000
14:35099249:TAC:T	donor_loss	1.0000
14:35099250:ACCTG:A	donor_loss	1.0000
14:35099251:C:CT	donor_loss	1.0000
14:35099285:T:TA	donor_gain	1.0000
14:35099383:TC:T	acceptor_gain	1.0000
14:35099384:CC:C	acceptor_gain	1.0000
14:35099385:C:CC	acceptor_gain	1.0000
14:35099386:T:G	acceptor_loss	1.0000
14:35107302:A:AC	donor_gain	1.0000

AlphaMissense

3014 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:35085681:A:G	L424P	1.000
14:35091179:A:G	L335P	1.000
14:35091191:A:C	L331W	1.000
14:35091206:T:A	D326V	1.000
14:35091207:C:G	D326H	1.000
14:35095085:C:G	R313P	1.000
14:35095130:A:G	L298P	1.000
14:35095145:A:C	L293R	1.000
14:35095145:A:G	L293P	1.000
14:35095145:A:T	L293H	1.000
14:35095151:C:A	G291V	1.000
14:35095151:C:T	G291D	1.000
14:35095152:C:A	G291C	1.000
14:35095152:C:G	G291R	1.000
14:35095166:T:A	D286V	1.000
14:35095166:T:G	D286A	1.000
14:35095167:C:G	D286H	1.000
14:35095169:A:G	L285P	1.000
14:35095175:A:G	L283S	1.000
14:35095178:T:C	Y282C	1.000
14:35095179:A:C	Y282D	1.000
14:35095179:A:G	Y282H	1.000
14:35096569:A:G	L276P	1.000
14:35096572:G:T	A275D	1.000
14:35096585:A:G	S271P	1.000
14:35096586:A:C	F270L	1.000
14:35096586:A:T	F270L	1.000
14:35096587:A:G	F270S	1.000
14:35096588:A:G	F270L	1.000
14:35096588:A:T	F270I	1.000

dbSNP variants (sampled 300 via entrez): RS1000017804 (14:35096319 A>C,G), RS1000137131 (14:35109214 G>A), RS1000215315 (14:35109783 C>A,G,T), RS1000275881 (14:35086065 T>C), RS1000289957 (14:35090860 C>T), RS1000404063 (14:35090984 G>A), RS1000493206 (14:35122172 CTA>C), RS1000649962 (14:35118157 G>T), RS1000702353 (14:35117929 G>A,T), RS1000781735 (14:35123071 G>T), RS1000818766 (14:35117210 C>G,T), RS1000914120 (14:35097717 C>G), RS1000923340 (14:35110171 C>T), RS1000952731 (14:35122776 C>G,T), RS1000954796 (14:35111295 A>T)

Disease associations

OMIM: gene MIM:615902 | disease phenotypes: MIM:612132, MIM:600908, MIM:618419, MIM:618420

GenCC curated gene-disease

Disease	Classification	Inheritance
gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	Strong	Autosomal recessive
spermatogenic failure 36	Limited	Autosomal dominant

Mondo (3): ectodermal dysplasia and immunodeficiency 2 (MONDO:0012806), gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy (MONDO:0032738), spermatogenic failure 36 (MONDO:0032739)

Orphanet (2): Hypohidrotic ectodermal dysplasia (Orphanet:238468), Hypohidrotic ectodermal dysplasia with immunodeficiency (Orphanet:98813)

HPO phenotypes

74 total (30 of 74 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000013	Hypoplasia of the uterus
HP:0000059	Hypoplastic labia majora
HP:0000060	Clitoral hypoplasia
HP:0000069	Abnormality of the ureter
HP:0000122	Unilateral renal agenesis
HP:0000133	Gonadal dysgenesis
HP:0000147	Polycystic ovaries
HP:0000175	Cleft palate
HP:0000233	Thin vermilion border
HP:0000286	Epicanthus
HP:0000288	Abnormality of the philtrum
HP:0000319	Smooth philtrum
HP:0000341	Narrow forehead
HP:0000343	Long philtrum
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000396	Overfolded helix
HP:0000407	Sensorineural hearing impairment
HP:0000413	Atresia of the external auditory canal
HP:0000430	Underdeveloped nasal alae
HP:0000444	Convex nasal ridge
HP:0000494	Downslanted palpebral fissures
HP:0000510	Rod-cone dystrophy
HP:0000668	Hypodontia
HP:0000954	Single transverse palmar crease
HP:0000958	Dry skin
HP:0001156	Brachydactyly
HP:0001169	Broad palm

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST003184_17	Atopic dermatitis	9.000000e-10
GCST003184_9	Atopic dermatitis	2.000000e-15
GCST004609_210	Monocyte percentage of white cells	1.000000e-10
GCST004627_152	Lymphocyte count	8.000000e-13
GCST005537_117	Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)	7.000000e-10
GCST005856_1	Colorectal carcinoma in primary sclerosing cholangitis	7.000000e-07
GCST90002388_131	Lymphocyte count	9.000000e-21
GCST90002394_480	Monocyte percentage of white cells	1.000000e-19
GCST90002399_354	Neutrophil percentage of white cells	1.000000e-13

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007989	monocyte percentage of leukocytes
EFO:0004587	lymphocyte count
EFO:0007990	neutrophil percentage of leukocytes

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C567411	Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant (supp.)

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.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	2
Cadmium Chloride	increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases methylation	1
sodium arsenite	increases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
K 7174	increases expression	1
abrine	increases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Cadmium	increases abundance, increases expression	1
Chelating Agents	affects binding, increases expression	1
Copper	affects binding, increases expression	1
Doxorubicin	decreases expression	1
Gallic Acid	decreases expression	1
Lead	affects splicing	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Progesterone	decreases expression	1
Quercetin	decreases expression	1
Smoke	decreases expression	1
Tretinoin	decreases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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