EXPH5

Summary

EXPH5 (exophilin 5, HGNC:30578) is a protein-coding gene on chromosome 11q22.3, encoding Exophilin-5 (Q8NEV8). May act as Rab effector protein and play a role in vesicle trafficking.

The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome secretion and intracellular vesicle trafficking. Reduced expression of this gene results in keratin filament defects. Mutations in this gene have been associated with some cases of epidermolysis bullosa, an inherited skin fragility disorder. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 23086 — RefSeq curated summary.

At a glance

• Gene–disease (curated): epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive (Strong, GenCC)
• GWAS associations: 5
• Clinical variants (ClinVar): 431 total — 11 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 6
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_015065

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30578
Approved symbol	EXPH5
Name	exophilin 5
Location	11q22.3
Locus type	gene with protein product
Status	Approved
Aliases	SLAC2-B
Ensembl gene	ENSG00000110723
Ensembl biotype	protein_coding
OMIM	612878
Entrez	23086

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000265843, ENST00000524840, ENST00000525344, ENST00000526312, ENST00000531386, ENST00000533052

RefSeq mRNA: 5 — MANE Select: NM_015065 NM_001144763, NM_001144764, NM_001144765, NM_001308019, NM_015065

CCDS: CCDS76473, CCDS8341

Canonical transcript exons

ENST00000265843 — 6 exons

Exon	Start	End
ENSE00001771686	108539024	108539186
ENSE00002198214	108505435	108514875
ENSE00002291286	108593418	108593768
ENSE00003492843	108541652	108541812
ENSE00003601031	108528136	108528184
ENSE00003715725	108518235	108518373

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 97.44.

FANTOM5 (CAGE): breadth broad, TPM avg 3.4562 / max 447.0911, expressed in 788 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
122163	1.1666	376
122166	0.9632	376
122158	0.4416	9
122154	0.3521	95
122162	0.1565	76
122160	0.1178	15
122164	0.0839	30
122155	0.0508	20
122161	0.0478	17
122156	0.0275	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tongue squamous epithelium	UBERON:0006919	97.44	gold quality
skin of hip	UBERON:0001554	97.37	gold quality
mucosa of paranasal sinus	UBERON:0005030	97.27	gold quality
amniotic fluid	UBERON:0000173	97.25	gold quality
oral cavity	UBERON:0000167	96.30	gold quality
upper leg skin	UBERON:0004262	96.20	gold quality
bronchial epithelial cell	CL:0002328	95.96	gold quality
upper arm skin	UBERON:0004263	95.79	gold quality
epithelium of bronchus	UBERON:0002031	95.47	gold quality
nipple	UBERON:0002030	95.39	gold quality
nasal cavity epithelium	UBERON:0005384	94.94	gold quality
bronchus	UBERON:0002185	94.50	gold quality
gingiva	UBERON:0001828	94.10	gold quality
cerebellar vermis	UBERON:0004720	94.08	gold quality
paraflocculus	UBERON:0005351	93.80	gold quality
hair follicle	UBERON:0002073	93.46	gold quality
gingival epithelium	UBERON:0001949	93.45	gold quality
choroid plexus epithelium	UBERON:0003911	92.24	gold quality
epithelium of nasopharynx	UBERON:0001951	91.44	gold quality
palpebral conjunctiva	UBERON:0001812	91.25	gold quality
mammalian vulva	UBERON:0000997	90.96	gold quality
esophagus squamous epithelium	UBERON:0006920	90.22	gold quality
buccal mucosa cell	CL:0002336	89.94	gold quality
epithelium of esophagus	UBERON:0001976	89.62	gold quality
squamous epithelium	UBERON:0006914	89.28	gold quality
penis	UBERON:0000989	88.98	gold quality
metanephric glomerulus	UBERON:0004736	88.49	gold quality
lower lobe of lung	UBERON:0008949	88.37	gold quality
renal glomerulus	UBERON:0000074	88.33	gold quality
placenta	UBERON:0001987	88.13	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	16.49
E-GEOD-36552	no	76.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

209 targeting EXPH5, 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-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3162-3P	100.00	65.37	363
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548N	99.98	71.94	4170
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-5696	99.98	72.36	4487
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-548A-5P	99.94	71.27	3482

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 9)

• Slac2-b/KIAA0624 contains an N-terminal Slp homology domain (SHD) (PMID: 11327731). The SHD of Slac2-b specifically and directly binds the GTP-bound form of Rab27A (J. Biol. Chem. 277, (2002) 9212-9218; PMID: 11773082). (PMID:11773082)
• our findings identify an unexpected role for Slac2-b in inherited skin fragility and expand the clinical spectrum of human disorders of GTPase effector proteins. (PMID:23176819)
• Here, we report the second family with two EXPH5 mutations in epidermolysis bullosa simplex. (PMID:24005056)
• The results identify a further EXPH5 pedigree suggest that mutations in EXPH5 should be considered as a possible candidate gene for recessive or sporadic cases of mild generalized EBS. (PMID:26211931)
• Mutations in EXPH5 protein, human have been implicated in the physiopathology of Epidermolysis bullosa simplex. (PMID:27384765)
• both mutations were homozygous and were predicted to result in the absence (EXPH5) or very low levels (COL17A1) of the corresponding protein products, with ultrastructural findings in the skin consistent with the presence of two subtypes, the simplex and the junctional forms, of the disease. (PMID:30016581)
• Slac2-b Coordinates Extracellular Vesicle Secretion to Regulate Keratinocyte Adhesion and Migration. (PMID:32890627)
• SLAC2B-dependent microtubule acetylation regulates extracellular matrix-mediated intracellular TM4SF5 traffic to the plasma membranes. (PMID:33554392)
• Revealing EXPH5 as a potential diagnostic gene biomarker of the late stage of COPD based on machine learning analysis. (PMID:36746116)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Exph5	ENSMUSG00000034584
rattus_norvegicus	Exph5	ENSRNOG00000025115

Protein

Protein identifiers

Exophilin-5 — Q8NEV8 (reviewed: Q8NEV8)

Alternative names: Synaptotagmin-like protein homolog lacking C2 domains b

All UniProt accessions (5): Q8NEV8, A0A087WZJ0, E9PIT1, E9PPH6, F5GXG5

UniProt curated annotations — full annotation on UniProt →

Function. May act as Rab effector protein and play a role in vesicle trafficking.

Subunit / interactions. Interacts with RAB27A.

Tissue specificity. Expressed in keratinocytes.

Disease relevance. Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive (EBS4) [MIM:615028] A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS4 is an autosomal recessive disorder characterized by mild skin fragility with onset at birth or in early childhood, associated with acral blistering with hemorrhagic crusts. Skin fragility improves with age in most patients, although mottled pigmentation may later develop on the trunk and proximal limbs. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NEV8-1	1	yes
Q8NEV8-2	2

RefSeq proteins (5): NP_001138235, NP_001138236, NP_001138237, NP_001294948, NP_055880* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010911	Rab_BD	Domain
IPR039916	EXPH5	Family

UniProt features (61 total): sequence variant 20, compositionally biased region 16, region of interest 11, modified residue 11, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NEV8-F1	36.39	0.01

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 (11): 603, 806, 809, 1028, 1086, 1124, 1505, 1753, 1768, 1821, 1851

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 195 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_EPITHELIUM_DEVELOPMENT, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_EPITHELIAL_CELL_DEVELOPMENT, JAEGER_METASTASIS_DN, chr11q22, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_EXOCYTOSIS, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, GOMF_GTPASE_BINDING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN, GOBP_EPIDERMAL_CELL_DIFFERENTIATION

GO Biological Process (5): keratinocyte development (GO:0003334), intracellular protein transport (GO:0006886), positive regulation of exocytosis (GO:0045921), positive regulation of protein secretion (GO:0050714), multivesicular body sorting pathway (GO:0071985)

GO Molecular Function (1): small GTPase binding (GO:0031267)

GO Cellular Component (1): endosome (GO:0005768)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
positive regulation of secretion by cell	2
epithelial cell development	1
keratinocyte differentiation	1
intracellular protein localization	1
protein transport	1
intracellular transport	1
exocytosis	1
regulation of exocytosis	1
protein secretion	1
regulation of protein secretion	1
positive regulation of protein transport	1
vesicle-mediated transport	1
GTPase binding	1
endomembrane system	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

672 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EXPH5	RAB27A	P51159	970
EXPH5	MLPH	Q9BV36	850
EXPH5	RAB27B	O00194	812
EXPH5	RAP2B	P17964	670
EXPH5	ARF3	P16587	669
EXPH5	SYTL4	Q96C24	665
EXPH5	SYT1	P21579	648
EXPH5	CHML	P26374	648
EXPH5	MYO5A	Q9Y4I1	631
EXPH5	TGM5	O43548	624
EXPH5	KLHL24	Q6TFL4	558
EXPH5	RPH3A	Q9Y2J0	530
EXPH5	PRF1	P14222	497
EXPH5	POGLUT3	Q7Z4H8	487
EXPH5	PKP1	Q13835	482

IntAct

54 interactions, top by confidence:

A	B	Type	Score
SPC24	NDC80	psi-mi:“MI:0914”(association)	0.920
PTPN3	MCC	psi-mi:“MI:0914”(association)	0.660
MLF1	HAX1	psi-mi:“MI:0914”(association)	0.560
HSPB8	VWA8	psi-mi:“MI:0914”(association)	0.530
HAVCR2	TCAF2	psi-mi:“MI:0914”(association)	0.530
EXPH5	E4	psi-mi:“MI:0915”(physical association)	0.370
SMAD9	EXPH5	psi-mi:“MI:0915”(physical association)	0.370
P		psi-mi:“MI:0914”(association)	0.350
	HLA-C	psi-mi:“MI:0914”(association)	0.350
HSPA4	HSPA8	psi-mi:“MI:0914”(association)	0.350
KRT2	IFT56	psi-mi:“MI:0914”(association)	0.350
CFAP184	TARS3	psi-mi:“MI:0914”(association)	0.350
DUSP16	MEIOC	psi-mi:“MI:0914”(association)	0.350
TRIM52	MEIOC	psi-mi:“MI:0914”(association)	0.350
KRT38	KRBA1	psi-mi:“MI:0914”(association)	0.350
NCAPH2	MYO9A	psi-mi:“MI:0914”(association)	0.350
RAB27A	GTPBP1	psi-mi:“MI:0914”(association)	0.350
BORCS8	TP73	psi-mi:“MI:0914”(association)	0.350
PRELID2	TP73	psi-mi:“MI:0914”(association)	0.350
PNMA6A	ZFTRAF1	psi-mi:“MI:0914”(association)	0.350
CCDC107	TMEM131L	psi-mi:“MI:0914”(association)	0.350
TRIM10	VWA8	psi-mi:“MI:0914”(association)	0.350
LOXL4	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
KRT40	NEURL1B	psi-mi:“MI:0914”(association)	0.350
BAG2	PIK3C2A	psi-mi:“MI:0914”(association)	0.350
CRYBA4	ZNF195	psi-mi:“MI:0914”(association)	0.350
C6orf141	ZNF195	psi-mi:“MI:0914”(association)	0.350
NCAPH2	FANCA	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0A1B0GTH6, A0A1D5RMD1, A1KXM5, A2AEY4, A6NCI8, A6QQS3, A7KBS4, C4P6S0, O94713, P0C9Z7, P53963, P53976, Q0P670, Q0VAV2, Q10668, Q196W1, Q2KHR3, Q2YDJ5, Q32MG2, Q3V0A6, Q3V3Q4, Q4V8E9, Q5JRM2, Q68FV4, Q6AXV6, Q6AYN3, Q6NS59, Q7TSG5, Q80VJ6, Q80Y39, Q80YD3, Q810T2, Q86XD8, Q8C5U4, Q8CH19, Q8IWI9, Q8K4E0, Q8NDH2, Q8NEV8, Q8NFU7

Diamond homologs: Q0VAV2, Q8NEV8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 80 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
Activation of BAD and translocation to mitochondria	7	111.0×	1e-11
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	98.0×	2e-11
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	98.0×	2e-11
Activation of BH3-only proteins	7	72.4×	2e-10
RHO GTPases activate PKNs	7	46.3×	5e-09
Intrinsic Pathway for Apoptosis	7	42.7×	8e-09
FOXO-mediated transcription	5	35.0×	4e-06
Apoptosis	8	28.0×	1e-08

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	25.8×	7e-04
intracellular protein localization	7	10.3×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	11
Likely pathogenic	3
Uncertain significance	277
Likely benign	57
Benign	53

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
1304967	NM_015065.3(EXPH5):c.1395del (p.Phe466fs)	Pathogenic
1304968	NM_015065.3(EXPH5):c.2897del (p.Pro966fs)	Pathogenic
1304969	NM_015065.3(EXPH5):c.1947dup (p.Thr650fs)	Pathogenic
1304970	NM_015065.3(EXPH5):c.2249C>A (p.Ser750Ter)	Pathogenic
1304971	NM_015065.3(EXPH5):c.3650T>A (p.Leu1217Ter)	Pathogenic
1304972	NM_015065.3(EXPH5):c.2542del (p.His848fs)	Pathogenic
1304973	NM_015065.3(EXPH5):c.3917C>G (p.Ser1306Ter)	Pathogenic
2242419	NM_015065.3(EXPH5):c.3640del (p.Cys1214fs)	Pathogenic
2570810	NM_015065.3(EXPH5):c.299del (p.Thr100fs)	Pathogenic
265125	NM_015065.3(EXPH5):c.5786del (p.Pro1929fs)	Pathogenic
3337083	NM_015065.3(EXPH5):c.856del (p.Thr286fs)	Pathogenic
3779631	NM_015065.3(EXPH5):c.4483dup (p.Met1495fs)	Likely pathogenic
4081381	NM_015065.3(EXPH5):c.89_99del (p.Glu30fs)	Likely pathogenic
4081382	NM_015065.3(EXPH5):c.644T>A (p.Leu215Ter)	Likely pathogenic

SpliceAI

1602 predictions. Top by Δscore:

Variant	Effect	Δscore
11:108518230:CTTA:C	donor_loss	1.0000
11:108518231:TTAC:T	donor_loss	1.0000
11:108518232:TAC:T	donor_loss	1.0000
11:108518233:A:AC	donor_gain	1.0000
11:108518233:ACCTT:A	donor_loss	1.0000
11:108518234:C:CC	donor_gain	1.0000
11:108539022:AC:A	donor_gain	1.0000
11:108539023:CC:C	donor_gain	1.0000
11:108541675:AG:A	donor_gain	1.0000
11:108593412:CTGTA:C	donor_loss	1.0000
11:108593413:TGTAC:T	donor_loss	1.0000
11:108593414:GTAC:G	donor_loss	1.0000
11:108593415:TACCT:T	donor_loss	1.0000
11:108593416:A:T	donor_loss	1.0000
11:108509540:CAGTT:C	donor_gain	0.9900
11:108518229:ACTT:A	donor_loss	0.9900
11:108518233:AC:A	donor_gain	0.9900
11:108518234:CC:C	donor_gain	0.9900
11:108518371:CTG:C	acceptor_gain	0.9900
11:108539017:AACT:A	donor_loss	0.9900
11:108539018:ACT:A	donor_loss	0.9900
11:108539019:CTC:C	donor_loss	0.9900
11:108539020:TCACC:T	donor_loss	0.9900
11:108539023:C:A	donor_loss	0.9900
11:108539182:CGGAT:C	acceptor_gain	0.9900
11:108539184:GATC:G	acceptor_loss	0.9900
11:108539187:C:CC	acceptor_gain	0.9900
11:108541676:G:C	donor_gain	0.9900
11:108541771:C:CA	donor_gain	0.9900
11:108541808:GTTTG:G	acceptor_gain	0.9900

AlphaMissense

13171 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:108509776:A:G	W1911R	0.994
11:108509776:A:T	W1911R	0.994
11:108509816:G:C	F1897L	0.989
11:108509816:G:T	F1897L	0.989
11:108509818:A:G	F1897L	0.989
11:108541757:A:G	W59R	0.988
11:108541757:A:T	W59R	0.988
11:108509774:C:A	W1911C	0.986
11:108509774:C:G	W1911C	0.986
11:108509840:A:C	F1889L	0.986
11:108509840:A:T	F1889L	0.986
11:108509842:A:G	F1889L	0.986
11:108541752:A:C	F60L	0.982
11:108541752:A:T	F60L	0.982
11:108541754:A:G	F60L	0.982
11:108509817:A:G	F1897S	0.981
11:108509793:A:G	L1905P	0.980
11:108541755:C:A	W59C	0.980
11:108541755:C:G	W59C	0.980
11:108541777:A:G	L52P	0.975
11:108509541:A:G	L1989P	0.974
11:108541781:A:G	W51R	0.973
11:108541781:A:T	W51R	0.973
11:108541807:A:G	L42P	0.973
11:108593423:C:A	R38S	0.973
11:108593423:C:G	R38S	0.973
11:108509762:A:C	F1915L	0.971
11:108509762:A:T	F1915L	0.971
11:108509764:A:G	F1915L	0.971
11:108509744:G:C	F1921L	0.970

dbSNP variants (sampled 300 via entrez): RS1000026290 (11:108608132 C>T), RS1000031831 (11:108520153 C>A,G), RS1000054234 (11:108602912 C>T), RS1000057090 (11:108505131 A>G), RS1000069528 (11:108564557 G>C), RS1000126640 (11:108518866 A>G,T), RS1000134416 (11:108591151 A>C), RS1000181890 (11:108543240 T>C), RS1000182867 (11:108542086 C>G,T), RS1000187083 (11:108545341 C>T), RS1000208078 (11:108587206 C>T), RS1000218823 (11:108540051 C>T), RS1000224539 (11:108545593 TG>T,TGG), RS1000247989 (11:108585338 A>C), RS1000319577 (11:108543444 G>T)

Disease associations

OMIM: gene MIM:612878 | disease phenotypes: MIM:615028

GenCC curated gene-disease

Disease	Classification	Inheritance
epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	Strong	Autosomal recessive

Mondo (1): epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive (MONDO:0014014)

Orphanet (1): Epidermolysis bullosa simplex due to exophilin 5 deficiency (Orphanet:412189)

HPO phenotypes

6 total (6 of 6 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000962	Hyperkeratosis
HP:0001030	Fragile skin
HP:0008066	Abnormal blistering of the skin
HP:0011463	Childhood onset
HP:0025092	Epidermal acanthosis

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST004627_17	Lymphocyte count	1.000000e-09
GCST007250_11	Nonunion in individuals with fractures	3.000000e-07
GCST010002_248	Refractive error	4.000000e-19
GCST011352_1	Alanine aminotransferase levels	1.000000e-08
GCST90002400_474	Plateletcrit	2.000000e-10

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004587	lymphocyte count
EFO:0009707	fractures, ununited
EFO:0007985	platelet crit

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression	7
sodium arsenite	decreases expression, increases abundance	3
trichostatin A	increases expression	2
potassium chromate(VI)	affects cotreatment, decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tretinoin	decreases expression, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	affects expression, decreases expression	2
Cyclosporine	decreases expression, increases expression	2
Particulate Matter	increases expression, increases abundance	2
GSK-J4	increases expression	1
sotorasib	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	increases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	increases expression	1
nickel sulfate	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
pentanal	increases expression	1
chromium hexavalent ion	affects expression	1
CGP 52608	affects binding, increases reaction	1
enniatins	increases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
bisphenol S	decreases methylation	1
jinfukang	decreases expression	1
trametinib	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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