CADM3

Summary

CADM3 (cell adhesion molecule 3, HGNC:17601) is a protein-coding gene on chromosome 1q23.2, encoding Cell adhesion molecule 3 (Q8N126). Involved in cell-cell adhesion.

The protein encoded by this gene is a calcium-independent cell-cell adhesion protein that can form homodimers or heterodimers with other nectin proteins. The encoded protein has both homophilic and heterophilic cell-cell adhesion activity. This gene is reported to be a tumor suppressor gene.

Source: NCBI Gene 57863 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Charcot-Marie-Tooth disease, axonal, type 2FF (Strong, GenCC)
• GWAS associations: 8
• Clinical variants (ClinVar): 95 total — 1 likely-pathogenic
• Phenotypes (HPO): 27
• MANE Select transcript: NM_001127173

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17601
Approved symbol	CADM3
Name	cell adhesion molecule 3
Location	1q23.2
Locus type	gene with protein product
Status	Approved
Aliases	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1
Ensembl gene	ENSG00000162706
Ensembl biotype	protein_coding
OMIM	609743
Entrez	57863

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000368124, ENST00000368125, ENST00000416746, ENST00000910627, ENST00000910628, ENST00000910629, ENST00000968039

RefSeq mRNA: 3 — MANE Select: NM_001127173 NM_001127173, NM_001346510, NM_021189

CCDS: CCDS1182, CCDS44251

Canonical transcript exons

ENST00000368125 — 9 exons

Exon	Start	End
ENSE00001067900	159196891	159197060
ENSE00001067902	159191936	159192076
ENSE00001067905	159193870	159194040
ENSE00001067906	159192578	159192730
ENSE00001067908	159193423	159193560
ENSE00001067909	159196364	159196454
ENSE00001446369	159200804	159203313
ENSE00003574845	159199751	159199876
ENSE00003844033	159171615	159171853

Expression profiles

Bgee: expression breadth ubiquitous, 218 present calls, max score 99.23.

FANTOM5 (CAGE): breadth broad, TPM avg 15.4044 / max 607.2628, expressed in 624 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
5952	14.6653	613
5951	0.7391	154

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar hemisphere	UBERON:0002245	99.23	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.22	gold quality
cerebellar cortex	UBERON:0002129	99.18	gold quality
cortical plate	UBERON:0005343	98.64	gold quality
cerebellum	UBERON:0002037	98.40	gold quality
right frontal lobe	UBERON:0002810	97.97	gold quality
tibial nerve	UBERON:0001323	96.76	gold quality
anterior cingulate cortex	UBERON:0009835	96.47	gold quality
cingulate cortex	UBERON:0003027	96.46	gold quality
nucleus accumbens	UBERON:0001882	96.40	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.26	gold quality
prefrontal cortex	UBERON:0000451	96.23	gold quality
sural nerve	UBERON:0015488	95.18	gold quality
amygdala	UBERON:0001876	95.15	gold quality
paraflocculus	UBERON:0005351	95.05	gold quality
Brodmann (1909) area 10	UBERON:0013541	94.86	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	94.77	gold quality
neocortex	UBERON:0001950	94.61	gold quality
frontal cortex	UBERON:0001870	94.52	gold quality
caudate nucleus	UBERON:0001873	94.29	gold quality
ganglionic eminence	UBERON:0004023	93.93	gold quality
putamen	UBERON:0001874	93.81	gold quality
hypothalamus	UBERON:0001898	93.72	gold quality
cerebellar vermis	UBERON:0004720	93.23	gold quality
telencephalon	UBERON:0001893	93.13	gold quality
cerebral cortex	UBERON:0000956	93.12	gold quality
brain	UBERON:0000955	92.86	gold quality
central nervous system	UBERON:0001017	92.72	gold quality
forebrain	UBERON:0001890	92.57	gold quality
trigeminal ganglion	UBERON:0001675	92.05	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	25.55
E-HCAD-11	yes	24.87
E-ANND-3	yes	8.38

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

133 targeting CADM3, 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-8485	100.00	77.57	4731
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-6764-5P	99.75	67.89	2304

Literature-anchored findings (GeneRIF, showing 16)

• Necl-1 is a neural-tissue-specific Ca2+-independent immunoglobulin-like cell-cell adhesion molecule which potentially has membrane-associated guanylate kinase subfamily member-binding activity and localizes at the non-junctional cell-cell contact sites (PMID:15741237)
• crystallographic analysis of human Nectin-like molecule-1/Syncam3/Tsll1/Igsf4b, a neural tissue-specific immunoglobulin-like cell-cell adhesion molecule (PMID:16467305)
• human NECL1 is an N-linked glycoprotein with a single glycosylation site at position N290KS (PMID:18420026)
• Expression of entry receptors nectin-1 and HVEM prevent entry of HSV-1 into human conjunctival epithelium. (PMID:18502984)
• NECL1 may inhibit the proliferation of T98G cells by inducing its apoptosis. (PMID:18686605)
• suggests that NECL1 may act as a tumor suppressor in glioma and loss of it in glioma may be caused by histone deacetylation (PMID:19062177)
• Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
• Nec- 1 suppress the growth and tumorigenic ability of colon cancer cells. (PMID:19565570)
• NECL1 can inhibit the migration and invasion of glioma cells and induce differentiation. (PMID:20078932)
• A link might exist between NECL1 and the extracellular matrix protein OPN in inhibiting the migration and invasion of U251 glioma ce (PMID:20598232)
• Findings clearly reveal the structural basis for the cis-dimerization of nectins through the first Ig-like domains. (PMID:21325282)
• A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. (PMID:22360420)
• Nectin-based cell-cell adhesion was formed at the apical side of the junctional adhesion molecule (JAM)-based cell-cell adhesion; cadherin and claudin were recruited to the nectin-3 and JAM-based cell-cell adhesion sites to form AJ- and TJ-like domains. (PMID:24112238)
• CADM3 expression was increased in retinoblastoma tissues and cells. miR-140-5p inhibited CADM3 expression possibly by targeting the 3’-UTR. (PMID:29808799)
• A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. (PMID:33889941)
• Clinical significance of low expression of CADM3 in breast cancer and preliminary exploration of related mechanisms. (PMID:38515057)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cadm3	ENSDARG00000057013
mus_musculus	Cadm3	ENSMUSG00000005338
rattus_norvegicus	Cadm3	ENSRNOG00000003365
drosophila_melanogaster	Fas3	FBGN0000636

Paralogs (14): PVR (ENSG00000073008), CD200 (ENSG00000091972), CADM4 (ENSG00000105767), CRTAM (ENSG00000109943), NECTIN1 (ENSG00000110400), NECTIN2 (ENSG00000130202), NECTIN4 (ENSG00000143217), CD226 (ENSG00000150637), SMAGP (ENSG00000170545), CADM2 (ENSG00000175161), NECTIN3 (ENSG00000177707), TIGIT (ENSG00000181847), CADM1 (ENSG00000182985), NCR3 (ENSG00000204475)

Protein

Protein identifiers

Cell adhesion molecule 3 — Q8N126 (reviewed: Q8N126)

Alternative names: Brain immunoglobulin receptor, Immunoglobulin superfamily member 4B, Nectin-like protein 1, Synaptic cell adhesion molecule 3, TSLC1-like protein 1

All UniProt accessions (2): A0A0C4DG09, Q8N126

UniProt curated annotations — full annotation on UniProt →

Function. Involved in cell-cell adhesion. Has both calcium-independent homophilic cell-cell adhesion activity and calcium-independent heterophilic cell-cell adhesion activity with IGSF4, NECTIN1 and NECTIN3. Interaction with EPB41L1 may regulate structure or function of cell-cell junctions.

Subunit / interactions. Homodimer. Can form trans-heterodimers with NECTIN3. Interacts with EPB41L1, DLG3, PALS2 and CASK.

Subcellular location. Cell membrane. Cell junction.

Tissue specificity. Isoform 1 is expressed mainly in adult and fetal brain. Isoform 2 is highly expressed in adult brain and weakly expressed in placenta. In brain, Isoform 2 is highly expressed in cerebellum.

Disease relevance. Charcot-Marie-Tooth disease, axonal, type 2FF (CMT2FF) [MIM:619519] A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2FF is characterized by early-childhood onset of difficulties walking or running due to atrophy and weakness of the lower limbs. Some patients lose independent ambulation. There is also prominent involvement of the upper limbs. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The cytoplasmic region mediates interaction with EPB41L1, DLG3, PALS2 and CASK.

Induction. Markedly in glioma cell lines and prostate cancer cell lines.

Similarity. Belongs to the nectin family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N126-1	1	yes
Q8N126-2	2
Q8N126-3	3

RefSeq proteins (3): NP_001120645, NP_001333439, NP_067012 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003585	Neurexin-like	Domain
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013162	CD80_C2-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily

Pfam: PF07686, PF08205, PF13927

UniProt features (30 total): strand 9, disulfide bond 3, sequence variant 3, domain 3, splice variant 2, topological domain 2, signal peptide 1, chain 1, modified residue 1, glycosylation site 1, helix 1, transmembrane region 1, region of interest 1, site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1Z9M	X-RAY DIFFRACTION	2.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N126-F1	84.97	0.67

Functional residue map

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

Catalytic / active sites (1): 25 (not glycosylated)

Post-translational modifications (1): 388

Disulfide bonds (3): 50–110, 152–209, 254–299

Glycosylation sites (1): 290

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-418990	Adherens junctions interactions
R-HSA-420597	Nectin/Necl trans heterodimerization
R-HSA-1500931	Cell-Cell communication
R-HSA-421270	Cell-cell junction organization
R-HSA-446728	Cell junction organization

MSigDB gene sets: 185 (showing top): RNGTGGGC_UNKNOWN, GOBP_HETEROPHILIC_CELL_CELL_ADHESION, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GOBP_CELL_CELL_ADHESION, KONDO_COLON_CANCER_HCP_WITH_H3K27ME1, ONDER_CDH1_TARGETS_2_UP, ONDER_CDH1_SIGNALING_VIA_CTNNB1, GOCC_CELL_CELL_JUNCTION, KEGG_CELL_ADHESION_MOLECULES_CAMS, GOCC_SYNAPSE, ZHENG_BOUND_BY_FOXP3, GOCC_PRESYNAPTIC_MEMBRANE, GOCC_ANCHORING_JUNCTION, GOCC_PLASMA_MEMBRANE_REGION

GO Biological Process (3): homophilic cell-cell adhesion (GO:0007156), heterophilic cell-cell adhesion (GO:0007157), cell adhesion (GO:0007155)

GO Molecular Function (2): protein homodimerization activity (GO:0042803), protein binding (GO:0005515)

GO Cellular Component (5): plasma membrane (GO:0005886), cell-cell junction (GO:0005911), presynaptic membrane (GO:0042734), membrane (GO:0016020), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Cell-cell junction organization	1
Adherens junctions interactions	1
Cell junction organization	1
Cell-Cell communication	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell-cell adhesion	2
cellular process	1
identical protein binding	1
protein dimerization activity	1
binding	1
membrane	1
cell periphery	1
anchoring junction	1
synaptic membrane	1
presynapse	1
cellular anatomical structure	1
cell junction	1

Protein interactions and networks

STRING

1112 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CADM3	PALS2	Q9NZW5	878
CADM3	CADM4	Q8NFZ8	849
CADM3	MPP3	Q13368	847
CADM3	DLG3	Q92796	802
CADM3	AFDN	P55196	620
CADM3	NECTIN1	Q15223	591
CADM3	EPB41L2	O43491	508
CADM3	CADM1	Q9BY67	501
CADM3	ACKR1	Q16570	458
CADM3	MGST3	O14880	456
CADM3	SPARCL1	Q14515	455
CADM3	KCNA1	Q09470	442
CADM3	GMPR	P36959	420
CADM3	GPR88	Q9GZN0	420
CADM3	GNPDA1	P46926	418

IntAct

15 interactions, top by confidence:

A	B	Type	Score
CADM3	SEC11C	psi-mi:“MI:0915”(physical association)	0.560
CLEC4A	SEMA7A	psi-mi:“MI:0914”(association)	0.530
CADM3	CADM4	psi-mi:“MI:0915”(physical association)	0.400
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
ADGRG5	SLC33A1	psi-mi:“MI:0914”(association)	0.350
CLGN	TMEM131L	psi-mi:“MI:0914”(association)	0.350
LRRC32	ORC4	psi-mi:“MI:0914”(association)	0.350
MRPL49	UBA6	psi-mi:“MI:0914”(association)	0.350
SPPL2B	POC1B-GALNT4	psi-mi:“MI:0914”(association)	0.350
ZDHHC11	NRP1	psi-mi:“MI:0914”(association)	0.350
CADM3	SEC11C	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (4): CADM3 (Affinity Capture-MS), SEC11C (Two-hybrid), CADM3 (Affinity Capture-MS), CADM3 (Affinity Capture-MS)

ESM2 similar proteins: A0A5B9, A6NDV4, A6QLK4, B1AWJ5, E9PTA2, O75051, O94759, P01850, P01851, P01852, P01857, P01859, P01860, P01861, P01869, P01870, P01906, P01909, P03987, P06333, P0DSE2, P0DTU4, P11364, P15151, P15981, P20759, P20762, P32506, P54900, Q1WIM1, Q1WIM3, Q3TMX7, Q6P767, Q6ZRP7, Q7TQ33, Q812F8, Q8N126, Q8NFZ8, Q8R143, Q8R464

Diamond homologs: O95727, Q13449, Q149L7, Q1WIM1, Q1WIM2, Q1WIM3, Q62813, Q6AYP5, Q7ZXX1, Q8BLK3, Q8BLQ9, Q8N126, Q8N3J6, Q8NFZ8, Q8R464, Q8R5M8, Q98919, Q99N28, Q9BY67, P04921, Q0V8T0, Q0V8T3, Q0V8T6, Q28F36, Q5RD64, Q6DJ83, Q6XFR6, Q78HU7, Q99P47, Q9C0A0, Q9CPW0, Q9UHC6, P11834, P32736, Q14982, Q58DA5, Q5IS61, Q62718, Q90773, Q98892

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	66
Likely benign	10
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1268234	NM_001127173.3(CADM3):c.413A>G (p.Tyr138Cys)	Likely pathogenic

SpliceAI

1840 predictions. Top by Δscore:

Variant	Effect	Δscore
1:159171849:GGACG:G	donor_gain	1.0000
1:159171850:GACG:G	donor_gain	1.0000
1:159171850:GACGG:G	donor_gain	1.0000
1:159171854:G:GG	donor_gain	1.0000
1:159189869:CAAGG:C	donor_loss	1.0000
1:159189870:AAG:A	donor_loss	1.0000
1:159189871:AGGTG:A	donor_loss	1.0000
1:159189872:GGTG:G	donor_loss	1.0000
1:159189873:G:T	donor_loss	1.0000
1:159189874:T:A	donor_loss	1.0000
1:159192728:TAGGT:T	donor_loss	1.0000
1:159192729:AGGT:A	donor_loss	1.0000
1:159192731:GT:G	donor_loss	1.0000
1:159192732:T:A	donor_loss	1.0000
1:159194001:G:GT	donor_gain	1.0000
1:159194031:G:GT	donor_gain	1.0000
1:159196453:GT:G	donor_gain	1.0000
1:159197058:ATG:A	donor_gain	1.0000
1:159197059:TG:T	donor_gain	1.0000
1:159197059:TGG:T	donor_loss	1.0000
1:159197060:GG:G	donor_gain	1.0000
1:159197061:G:GG	donor_gain	1.0000
1:159197061:GT:G	donor_loss	1.0000
1:159197062:T:G	donor_loss	1.0000
1:159199746:TCCA:T	acceptor_gain	1.0000
1:159199747:CCA:C	acceptor_gain	1.0000
1:159199748:CA:C	acceptor_gain	1.0000
1:159199749:A:AG	acceptor_gain	1.0000
1:159199749:A:AT	acceptor_loss	1.0000
1:159199749:AGA:A	acceptor_gain	1.0000

AlphaMissense

2591 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:159191990:T:C	L48P	1.000
1:159191995:T:A	C50S	1.000
1:159191995:T:C	C50R	1.000
1:159191996:G:A	C50Y	1.000
1:159191996:G:C	C50S	1.000
1:159191997:C:G	C50W	1.000
1:159192031:T:A	W62R	1.000
1:159192031:T:C	W62R	1.000
1:159192032:G:C	W62S	1.000
1:159192033:G:C	W62C	1.000
1:159192033:G:T	W62C	1.000
1:159192034:T:C	S63P	1.000
1:159192061:T:C	F72L	1.000
1:159192062:T:G	F72C	1.000
1:159192063:T:A	F72L	1.000
1:159192063:T:G	F72L	1.000
1:159192626:T:C	L93P	1.000
1:159192632:T:A	I95N	1.000
1:159192670:T:C	Y108H	1.000
1:159192670:T:G	Y108D	1.000
1:159192671:A:C	Y108S	1.000
1:159192671:A:G	Y108C	1.000
1:159192676:T:A	C110S	1.000
1:159192676:T:C	C110R	1.000
1:159192677:G:A	C110Y	1.000
1:159192677:G:C	C110S	1.000
1:159192677:G:T	C110F	1.000
1:159192678:C:G	C110W	1.000
1:159192679:T:C	S111P	1.000
1:159192685:T:C	F113L	1.000

dbSNP variants (sampled 300 via entrez): RS1000090129 (1:159182363 G>A), RS1000157237 (1:159203016 T>G), RS1000223898 (1:159171538 C>A), RS1000373017 (1:159203238 T>C), RS1000393404 (1:159200800 A>C,G), RS1000495552 (1:159184171 T>A,C), RS1000515217 (1:159172397 G>A), RS1000684071 (1:159198871 G>A), RS1000785445 (1:159171366 G>A), RS1000895556 (1:159196156 C>G), RS1001060009 (1:159190193 C>A), RS1001074264 (1:159186158 G>A), RS1001089514 (1:159177861 A>C), RS1001114530 (1:159183827 G>A), RS1001147521 (1:159181365 G>C)

Disease associations

OMIM: gene MIM:609743 | disease phenotypes: MIM:619519

GenCC curated gene-disease

Disease	Classification	Inheritance
Charcot-Marie-Tooth disease, axonal, type 2FF	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Charcot-Marie-Tooth disease, axonal, type 2FF	Moderate	AD

Mondo (2): Charcot-Marie-Tooth disease, axonal, type 2FF (MONDO:0030433), prostate cancer (MONDO:0008315)

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

HPO phenotypes

27 total (27 of 27 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0001239	Wrist flexion contracture
HP:0001284	Areflexia
HP:0001348	Brisk reflexes
HP:0001611	Hypernasal speech
HP:0001643	Patent ductus arteriosus
HP:0001763	Pes planus
HP:0002650	Scoliosis
HP:0002936	Distal sensory impairment
HP:0003394	Muscle spasm
HP:0003438	Absent Achilles reflex
HP:0003593	Infantile onset
HP:0003596	Middle age onset
HP:0003693	Distal amyotrophy
HP:0006886	Impaired distal vibration sensation
HP:0007149	Distal upper limb amyotrophy
HP:0008944	Distal lower limb amyotrophy
HP:0008959	Distal upper limb muscle weakness
HP:0009005	Weakness of the intrinsic hand muscles
HP:0009027	Foot dorsiflexor weakness
HP:0009830	Peripheral neuropathy
HP:0011463	Childhood onset
HP:0030319	Weakness of facial musculature
HP:0031189	Wrist drop
HP:0031936	Delayed ability to walk
HP:0033383	Decreased compound muscle action potential amplitude
HP:0033466	Weak grip

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST000083_12	Select biomarker traits	3.000000e-06
GCST000083_6	Select biomarker traits	1.000000e-06
GCST001385_3	Inflammatory biomarkers	9.000000e-14
GCST002743_2	Neutrophil count in HIV-infection	3.000000e-17
GCST003135_1	Bipolar disorder and eating disorder	9.000000e-06
GCST007732_22	Allergic disease (asthma, hay fever or eczema)	3.000000e-08
GCST010042_100	Asthma	5.000000e-10
GCST010043_85	Asthma	5.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004833	neutrophil count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D011471	Prostatic Neoplasms	C04.588.945.440.770; 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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
sodium arsenite	decreases expression, increases expression	2
Aflatoxin B1	increases methylation	2
Cadmium Chloride	decreases expression, increases expression	2
lead acetate	decreases expression	1
diisononyl phthalate	affects cotreatment, decreases expression	1
terbufos	increases methylation	1
trichostatin A	decreases expression	1
lead nitrate	affects cotreatment, decreases expression	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	decreases expression	1
butylbenzyl phthalate	affects cotreatment, decreases expression	1
cupric chloride	decreases expression	1
pentanal	increases expression	1
Vorinostat	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Vehicle Emissions	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation, affects methylation	1
Cadmium	decreases expression	1
Calcitriol	increases expression	1
Diethylhexyl Phthalate	affects cotreatment, decreases expression	1
Fonofos	increases methylation	1
Formaldehyde	increases expression	1
Lead	affects expression, affects splicing	1
Mercury	affects cotreatment, decreases expression	1
Parathion	increases methylation	1
Thimerosal	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
NCT00106392	PHASE4	COMPLETED	A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy
NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
NCT00199485	PHASE4	COMPLETED	Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer
NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study 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
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
NCT00391690	PHASE4	COMPLETED	Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer
NCT00422708	PHASE4	COMPLETED	Local Anesthesia for Prostate Biopsy
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
NCT00859027	PHASE4	COMPLETED	Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer
NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
NCT00953277	PHASE4	COMPLETED	Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer
NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer
NCT01512472	PHASE4	TERMINATED	Firmagon (Degarelix) Intermittent Therapy
NCT01547416	PHASE4	COMPLETED	The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function
NCT01571544	PHASE4	COMPLETED	The Use of Thermal Suits as Preventing Hypothermia During Surgery
NCT01581749	PHASE4	UNKNOWN	Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer
NCT01649635	PHASE4	COMPLETED	Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer