CLDN11

Summary

CLDN11 (claudin 11, HGNC:8514) is a protein-coding gene on chromosome 3q26.2, encoding Claudin-11 (O75508). Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.

This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a major component of central nervous system (CNS) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. Mouse studies showed that the gene deficiency results in deafness and loss of the Sertoli cell epithelial phenotype in the testis. This protein is a tight junction protein at the human blood-testis barrier (BTB), and the BTB disruption is related to a dysfunction of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified.

Source: NCBI Gene 5010 — RefSeq curated summary.

At a glance

• Gene–disease (curated): leukodystrophy, hypomyelinating, 22 (Strong, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 23 total — 2 pathogenic
• Phenotypes (HPO): 23
• MANE Select transcript: NM_005602

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8514
Approved symbol	CLDN11
Name	claudin 11
Location	3q26.2
Locus type	gene with protein product
Status	Approved
Aliases	OSP
Ensembl gene	ENSG00000013297
Ensembl biotype	protein_coding
OMIM	601326
Entrez	5010

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding_CDS_not_defined, 2 protein_coding, 1 retained_intron

ENST00000064724, ENST00000468358, ENST00000477531, ENST00000486429, ENST00000488989, ENST00000489485, ENST00000643053, ENST00000970096

RefSeq mRNA: 2 — MANE Select: NM_005602 NM_001185056, NM_005602

CCDS: CCDS3213

Canonical transcript exons

ENST00000064724 — 3 exons

Exon	Start	End
ENSE00000826189	170418868	170419292
ENSE00001214204	170432524	170434691
ENSE00003828099	170423163	170423327

Expression profiles

Bgee: expression breadth ubiquitous, 241 present calls, max score 99.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 157.1508 / max 6295.8018, expressed in 1069 samples.

FANTOM5 promoters (14 alternative TSS)

Promoter ID	TPM avg	Samples expressed
39741	131.3549	1049
39758	15.1597	794
39744	5.1191	659
39745	1.8216	412
39762	1.1420	397
39755	0.5586	235
39761	0.5352	252
39743	0.3892	225
39760	0.2928	141
39759	0.2537	104

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
inferior vagus X ganglion	UBERON:0005363	99.82	gold quality
subthalamic nucleus	UBERON:0001906	99.61	gold quality
superior vestibular nucleus	UBERON:0007227	99.61	gold quality
ventral tegmental area	UBERON:0002691	99.58	gold quality
pons	UBERON:0000988	99.54	gold quality
lateral globus pallidus	UBERON:0002476	99.48	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.43	gold quality
adult organism	UBERON:0007023	99.39	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.34	gold quality
trigeminal ganglion	UBERON:0001675	99.26	gold quality
substantia nigra pars compacta	UBERON:0001965	99.13	gold quality
globus pallidus	UBERON:0001875	98.87	gold quality
spinal cord	UBERON:0002240	98.87	gold quality
right testis	UBERON:0004534	98.76	gold quality
medial globus pallidus	UBERON:0002477	98.68	gold quality
endothelial cell	CL:0000115	98.63	gold quality
left testis	UBERON:0004533	98.53	gold quality
lateral nuclear group of thalamus	UBERON:0002736	98.29	gold quality
parietal lobe	UBERON:0001872	97.89	gold quality
postcentral gyrus	UBERON:0002581	97.73	gold quality
left ovary	UBERON:0002119	97.48	gold quality
corpus callosum	UBERON:0002336	97.45	gold quality
right ovary	UBERON:0002118	97.37	gold quality
testis	UBERON:0000473	97.07	gold quality
dorsal root ganglion	UBERON:0000044	96.99	gold quality
dorsal plus ventral thalamus	UBERON:0001897	96.83	gold quality
mammary duct	UBERON:0001765	96.40	gold quality
ovary	UBERON:0000992	95.85	gold quality
germinal epithelium of ovary	UBERON:0001304	95.71	gold quality
mucosa of paranasal sinus	UBERON:0005030	95.66	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	1008.66
E-GEOD-134144	yes	36.78
E-GEOD-84465	yes	11.28
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREB1, GATA1, GATA4, GATA6, HAND1, NFYA

miRNA regulators (miRDB)

113 targeting CLDN11, 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-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-6772-5P	99.94	67.01	577
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AQ-3P	99.93	72.66	4867

Literature-anchored findings (GeneRIF, showing 27)

• Data demonstrate that in rhesus monkeys immune responses directed at human OSP are encephalitogenic, leading to inflammatory responses throughout the central nervous system and to selective demyelination of the optic nerve. (PMID:18412169)
• the disruption of the blood-testis barrier is related to a dysfunction of claudin-11 and not to a failure of its expression. (PMID:19241088)
• Contribution of the tight junction protein CLDN11 to barrier function in endothelial cells is novel and may reflect hemodynamic requirements of the corpus cavernosum. (PMID:19622796)
• hypermethylation of CLDN11, leading to downregulated expression, contributes to gastric carcinogenesis by increasing cellular motility and invasiveness (PMID:19956721)
• Claudins 11,expression in meningiomas. (PMID:20546350)
• late spermatogenic wave may negatively regulate claudin-11 gene activation and the subcellular localization of claudin-11 in Sertoli cells, thus altering the blood testis barrier in the human testis (PMID:20850723)
• claudin-11 may have a role in preventing cancer progression and may serve as a therapeutic target in reducing metastasis (PMID:21468549)
• Treatment with 3-deazaneplanocin A, an inhibitor of H3K27 methyltransferase, attenuated CLDN11 induction by serum stimulation in parallel with sustained miR-1275 expression (PMID:22736761)
• disorganization of claudin-11 expression in Sertoli cells might be one of the factors involved in the impairment of spermatogenesis. (PMID:22951003)
• The spatial organization of claudin-11 and connexin-43 is altered in men with primary seminiferous tubule failure. (PMID:23706332)
• The expression of claudin-11 was up regulated in gastric cancer tissue. (PMID:23919729)
• these data suggest that cancer cells may induce CLDN11 overexpression and subsequent collective migration of peritumoral CAFs via TGF-beta secretion. (PMID:24268521)
• CLDN11 is an epigenetic biomarker for malignancy in dysplastic nevus and melanoma. (PMID:24999589)
• the expression of miR-99b was inversely correlated with CLDN11 levels . These findings suggest that a high level of miR-99b expression is an independent prognostic factor and correlates with poor survival of patients with Hepatocellular carcinoma (HCC) (PMID:26134929)
• Claudin-11 might represent the essential component of the blood-testis barrier in human. (PMID:27486954)
• expression of claudin-11 in cutaneous squamous cell carcinoma (cSCC) cells depended on the activity of p38delta MAPK; knock-down of claudin-11 enhanced cSCC cell invasion (PMID:27992079)
• The expression of claudin-11, -23 was remarkably downregulated in gastric cancer. (PMID:28350854)
• Authors demonstrated that CLDN11 promoter hypermethylation is a frequent event in LSCC, and contributes to metastasis and progression of LSCC. (PMID:28743857)
• our present findings indicate that claudin-11 expression at the BBB, BSCB, and BAB, but not the BCSFB, is downregulated in multiple sclerosis, impairing the functional integrity of these barriers. (PMID:29984400)
• We suggest that although claudin-7 and claudin-11 can be found in nearly all eutopic and ectopic epithelial cells, the impaired localization of claudin-11 in ectopic endometrium might contribute to the pathogenesis of endometriosis. (PMID:30514158)
• Overexpression of snail transcription factor (snail) correlates with increased claudin-11, and both are associated with a worse outcome. (PMID:30664792)
• Study found CLDN11 is a novel target gene of MiR-92a and indicate that its downregulation by extracellular vesicles containing miR-92a also contributes to the pro-angiogenic state of endothelial cells. (PMID:31500278)
• Chrysin enhances anticancer drug-induced toxicity mediated by the reduction of claudin-1 and 11 expression in a spheroid culture model of lung squamous cell carcinoma cells. (PMID:31551535)
• Over-expressed lncRNA PCAT18 inhibits proliferation, migration and invasion of gastric cancer cells through regulation of miR-135b/CLDN11 (PMID:32119960)
• De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. (PMID:33313762)
• MiR-205 suppressed the malignant behaviors of breast cancer cells by targeting CLDN11 via modulation of the epithelial-to-mesenchymal transition. (PMID:33971623)
• Serum claudin-5, claudin-11, occludin, vinculin, paxillin, and beta-catenin levels in preschool children with autism spectrum disorder. (PMID:36662163)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cldn11a	ENSDARG00000020031
danio_rerio	cldn11b	ENSDARG00000030723
mus_musculus	Cldn11	ENSMUSG00000037625
rattus_norvegicus	Cldn11	ENSRNOG00000010263

Paralogs (22): CLDN18 (ENSG00000066405), CLDN15 (ENSG00000106404), CLDN16 (ENSG00000113946), CLDN10 (ENSG00000134873), CLDN17 (ENSG00000156282), CLDN8 (ENSG00000156284), CLDN14 (ENSG00000159261), CLDN1 (ENSG00000163347), CLDN19 (ENSG00000164007), CLDN3 (ENSG00000165215), CLDN2 (ENSG00000165376), CLDN20 (ENSG00000171217), CLDN22 (ENSG00000177300), CLDN7 (ENSG00000181885), CLDN5 (ENSG00000184113), CLDN6 (ENSG00000184697), CLDN24 (ENSG00000185758), CLDN4 (ENSG00000189143), CLDN9 (ENSG00000213937), CLDN25 (ENSG00000228607), CLDN34 (ENSG00000234469), CLDN23 (ENSG00000253958)

Protein

Protein identifiers

Claudin-11 — O75508 (reviewed: O75508)

Alternative names: Oligodendrocyte-specific protein

All UniProt accessions (1): O75508

UniProt curated annotations — full annotation on UniProt →

Function. Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.

Subunit / interactions. Interacts with tetraspanin-3/TSPAN3. Interacts with OCLN.

Subcellular location. Cell junction. Tight junction. Cell membrane.

Disease relevance. Leukodystrophy, hypomyelinating, 22 (HLD22) [MIM:619328] An autosomal dominant disorder characterized by global developmental delay, mildly impaired intellectual development, motor impairment, limb spasticity, dysarthria, and eye abnormalities including hypermetropia. Brain imaging shows hypomyelinating leukodystrophy. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the claudin family.

RefSeq proteins (2): NP_001171985, NP_005593* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003555	Claudin11	Family
IPR004031	PMP22/EMP/MP20/Claudin	Family
IPR006187	Claudin	Family
IPR017974	Claudin_CS	Conserved_site

Pfam: PF00822

UniProt features (14 total): topological domain 5, transmembrane region 4, modified residue 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75508-F1	85.60	0.59

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 (2): 197, 198

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-420029	Tight junction interactions

MSigDB gene sets: 198 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, KEGG_TIGHT_JUNCTION, GOBP_MALE_GAMETE_GENERATION, chr3q26, SP1_Q2_01, GOBP_CELL_CELL_ADHESION, MARTINEZ_RB1_TARGETS_UP, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_ENSHEATHMENT_OF_NEURONS, RIGGI_EWING_SARCOMA_PROGENITOR_DN, CORRE_MULTIPLE_MYELOMA_UP, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, RICKMAN_HEAD_AND_NECK_CANCER_A, GOBP_CELL_JUNCTION_ASSEMBLY, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION

GO Biological Process (6): cell adhesion (GO:0007155), spermatogenesis (GO:0007283), axon ensheathment (GO:0008366), calcium-independent cell-cell adhesion (GO:0016338), bicellular tight junction assembly (GO:0070830), tight junction assembly (GO:0120192)

GO Molecular Function (3): structural molecule activity (GO:0005198), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (10): lipid droplet (GO:0005811), neurofilament (GO:0005883), plasma membrane (GO:0005886), bicellular tight junction (GO:0005923), cell junction (GO:0030054), axon (GO:0030424), basal part of cell (GO:0045178), tight junction (GO:0070160), membrane (GO:0016020), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Cell-cell junction organization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cellular process	1
developmental process involved in reproduction	1
male gamete generation	1
ensheathment of neurons	1
cell-cell adhesion	1
apical junction assembly	1
tight junction assembly	1
cell-cell junction assembly	1
tight junction organization	1
molecular_function	1
protein binding	1
binding	1
intracellular membraneless organelle	1
cytoplasm	1
intermediate filament	1
membrane	1
cell periphery	1
apical junction complex	1
tight junction	1
neuron projection	1
cell-cell junction	1
cell junction	1

Protein interactions and networks

STRING

1198 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CLDN11	TJP1	Q07157	951
CLDN11	OCLN	Q16625	884
CLDN11	PMP22	Q01453	854
CLDN11	CNP	P09543	675
CLDN11	TJP2	Q9UDY2	655
CLDN11	ERMN	Q8TAM6	654
CLDN11	TJP3	O95049	651
CLDN11	CLDN12	P56749	631
CLDN11	SYCP3	Q8IZU3	595
CLDN11	MOBP	Q13875	589
CLDN11	MBP	P02686	581
CLDN11	PLP1	P04400	579
CLDN11	CDH2	P19022	565
CLDN11	CLDN23	Q96B33	539
CLDN11	CYP17A1	P05093	537

IntAct

37 interactions, top by confidence:

A	B	Type	Score
CLDN11	SHISA3	psi-mi:“MI:0915”(physical association)	0.560
CLDN11	SMIM3	psi-mi:“MI:0915”(physical association)	0.560
TNFSF14	CLDN11	psi-mi:“MI:0915”(physical association)	0.560
CLDN11	KLRC1	psi-mi:“MI:0915”(physical association)	0.560
SHISA3	CLDN11	psi-mi:“MI:0915”(physical association)	0.560
SPINT1	CLDN11	psi-mi:“MI:0915”(physical association)	0.560
CLDN11	ZP3	psi-mi:“MI:0915”(physical association)	0.560
CLDN11	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
CLDN11	C16orf54	psi-mi:“MI:0915”(physical association)	0.560
CLDN11	AMIGO1	psi-mi:“MI:0915”(physical association)	0.560
CLDN11	FNDC9	psi-mi:“MI:0915”(physical association)	0.560
CLDN11	ATN1	psi-mi:“MI:0915”(physical association)	0.560
CLDN11	KLK6	psi-mi:“MI:0915”(physical association)	0.560
CLDN11	SMIM3	psi-mi:“MI:0915”(physical association)	0.000
CLDN11	TNFSF14	psi-mi:“MI:0915”(physical association)	0.000
CLDN11	KLRC1	psi-mi:“MI:0915”(physical association)	0.000
CLDN11	SPINT1	psi-mi:“MI:0915”(physical association)	0.000
CLDN11	ZP3	psi-mi:“MI:0915”(physical association)	0.000
CLDN11	TMEM80	psi-mi:“MI:0915”(physical association)	0.000
CLDN11	C16orf54	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (11): TNFSF14 (Two-hybrid), KLRC1 (Two-hybrid), SPINT1 (Two-hybrid), FNDC9 (Two-hybrid), TMEM80 (Two-hybrid), SHISA3 (Two-hybrid), AMIGO1 (Two-hybrid), C16orf54 (Two-hybrid), ZP3 (Two-hybrid), SMIM3 (Two-hybrid), CLDN11 (Affinity Capture-MS)

ESM2 similar proteins: A2VE58, A3KQ86, A3LPS1, A6H7B0, A7E3W5, A8MWL6, A9SEY7, B2RZ87, O43759, O43760, O43761, O54980, O55100, O55101, O75508, O95473, P0DI72, P0DI73, P22831, P47987, Q08AU7, Q08DL4, Q13021, Q28597, Q2YDD6, Q3MHK4, Q4R3L1, Q5APC0, Q5BLB7, Q5R703, Q5REK8, Q5RFC1, Q5XGR0, Q60771, Q62876, Q63ZU3, Q6DFR5, Q7TQJ1, Q8BGN8, Q8R191

Diamond homologs: A0A8C0N7E5, A6NM45, C3VMW3, C9JDP6, D3ZQJ0, O00501, O14493, O15551, O19005, O35054, O54942, O75508, O88551, O88552, O95471, O95484, O95500, O95832, P56745, P56746, P56747, P56748, P56750, P56856, P56857, P56880, P57739, P78369, Q0VCN0, Q2HJ22, Q2KIY2, Q3B7N4, Q3MHK4, Q4R3L1, Q5E9L0, Q5I0E5, Q5QT56, Q5R8E5, Q60771, Q63400

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	13
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1106668	NM_005602.6(CLDN11):c.622T>C (p.Ter208Gln)	Pathogenic
1106670	NM_005602.6(CLDN11):c.622T>G (p.Ter208Glu)	Pathogenic

SpliceAI

631 predictions. Top by Δscore:

Variant	Effect	Δscore
3:170419288:GCCGG:G	donor_gain	1.0000
3:170423161:A:AG	acceptor_gain	1.0000
3:170423162:G:GG	acceptor_gain	1.0000
3:170423279:GC:G	donor_gain	1.0000
3:170423280:C:CG	donor_gain	1.0000
3:170423280:C:G	donor_gain	1.0000
3:170419290:CGGG:C	donor_loss	0.9900
3:170419291:GG:G	donor_gain	0.9900
3:170419292:GG:G	donor_gain	0.9900
3:170419292:GGT:G	donor_loss	0.9900
3:170419293:G:A	donor_loss	0.9900
3:170419293:G:GG	donor_gain	0.9900
3:170419294:T:C	donor_loss	0.9900
3:170421246:T:TA	acceptor_gain	0.9900
3:170423154:T:A	acceptor_gain	0.9900
3:170423158:CCCAG:C	acceptor_gain	0.9900
3:170423159:CCA:C	acceptor_loss	0.9900
3:170423159:CCAGG:C	acceptor_gain	0.9900
3:170423160:CA:C	acceptor_loss	0.9900
3:170423160:CAGG:C	acceptor_gain	0.9900
3:170423161:A:AT	acceptor_loss	0.9900
3:170423161:AG:A	acceptor_gain	0.9900
3:170423161:AGGCT:A	acceptor_gain	0.9900
3:170423162:G:T	acceptor_loss	0.9900
3:170423162:GG:G	acceptor_gain	0.9900
3:170423162:GGC:G	acceptor_gain	0.9900
3:170423162:GGCT:G	acceptor_gain	0.9900
3:170423276:GTGGC:G	donor_gain	0.9900
3:170423277:TGGCT:T	donor_gain	0.9900
3:170423278:GGC:G	donor_gain	0.9900

AlphaMissense

1310 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:170419225:G:C	W53C	0.999
3:170419225:G:T	W53C	0.999
3:170419156:G:C	W30C	0.998
3:170419156:G:T	W30C	0.998
3:170419106:A:C	S14R	0.997
3:170419108:C:A	S14R	0.997
3:170419108:C:G	S14R	0.997
3:170419116:G:A	G17D	0.997
3:170419118:T:A	W18R	0.997
3:170419118:T:C	W18R	0.997
3:170419217:G:A	G51R	0.997
3:170419217:G:C	G51R	0.997
3:170432553:T:C	F141L	0.997
3:170432555:C:A	F141L	0.997
3:170432555:C:G	F141L	0.997
3:170419189:C:G	C41W	0.996
3:170419223:T:A	W53R	0.996
3:170419223:T:C	W53R	0.996
3:170423210:G:C	G92R	0.996
3:170419115:G:C	G17R	0.995
3:170419154:T:A	W30R	0.995
3:170419154:T:C	W30R	0.995
3:170419187:T:C	C41R	0.995
3:170419188:G:A	C41Y	0.995
3:170419217:G:T	G51W	0.995
3:170419218:G:A	G51E	0.995
3:170419232:T:A	C56S	0.995
3:170419233:G:C	C56S	0.995
3:170419259:T:A	C65S	0.995
3:170419260:G:C	C65S	0.995

dbSNP variants (sampled 300 via entrez): RS1000108381 (3:170430608 C>T), RS1000143310 (3:170430997 C>T), RS1000957317 (3:170424263 G>A), RS1001602750 (3:170429702 C>T), RS1001636204 (3:170419971 G>A), RS1001729592 (3:170420162 C>T), RS1001840015 (3:170427934 A>G), RS1001934614 (3:170428210 T>C,G), RS1001958060 (3:170425664 G>T), RS1002305793 (3:170425095 G>A), RS1002514309 (3:170431026 G>A), RS1002521499 (3:170434884 G>A,C), RS1002625497 (3:170428405 T>A), RS1002683082 (3:170421386 G>A), RS1002963617 (3:170428122 G>A)

Disease associations

OMIM: gene MIM:601326 | disease phenotypes: MIM:619328

GenCC curated gene-disease

Disease	Classification	Inheritance
leukodystrophy, hypomyelinating, 22	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
leukodystrophy, hypomyelinating, 22	Moderate	AD

Mondo (1): leukodystrophy, hypomyelinating, 22 (MONDO:0025701)

Orphanet (0):

HPO phenotypes

23 total (23 of 23 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000470	Short neck
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000540	Hypermetropia
HP:0000543	Optic disc pallor
HP:0000639	Nystagmus
HP:0000750	Delayed speech and language development
HP:0001260	Dysarthria
HP:0001371	Flexion contracture
HP:0001763	Pes planus
HP:0002307	Drooling
HP:0002395	Lower limb hyperreflexia
HP:0002540	Inability to walk
HP:0003429	CNS hypomyelination
HP:0003487	Babinski sign
HP:0003593	Infantile onset
HP:0006889	Borderline intellectual disability
HP:0006895	Lower limb hypertonia
HP:0008936	Axial hypotonia
HP:0025336	Delayed ability to sit
HP:0031936	Delayed ability to walk
HP:0200049	Upper limb hypertonia

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001148_1	Prostate cancer	7.000000e-22
GCST004821_1	Monocyte chemoattractant protein-1 (red blood cell fatty acid level interaction)	5.000000e-10
GCST010661_17	Blood glucose levels	2.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006810	oleic acid measurement
EFO:0004468	glucose measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs62293499	CLDN11		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression, increases methylation	9
sodium arsenite	decreases expression, increases abundance	2
mercuric bromide	increases expression, affects cotreatment	2
Resveratrol	affects cotreatment, increases expression, decreases expression	2
Arsenic	decreases ubiquitination, decreases expression, increases abundance	2
Copper	affects cotreatment, increases expression, affects binding, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	increases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	increases expression	1
methylmercuric chloride	increases expression	1
alpha-pinene	increases expression, increases abundance, affects cotreatment	1
bisphenol A	affects cotreatment, increases methylation, decreases methylation	1
trichostatin A	increases expression	1
3,4-dichloroaniline	decreases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
cobaltous chloride	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
nickel sulfate	increases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
chromium hexavalent ion	decreases expression, increases abundance	1
CGP 52608	increases reaction, affects binding	1
2-palmitoylglycerol	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
2,2’,4,4’,5-brominated diphenyl ether	increases expression	1
ICG 001	increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
2-(4-(biphenyl-4-sulfonyl)-piperazin-1-yl)-6,7-dipropoxyquinazolin-4-yl-amine	decreases expression	1
bisphenol S	affects methylation	1

Cellosaurus cell lines

2 cell lines: 1 induced pluripotent stem cell, 1 finite cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C9IB	UBCi002-A	Induced pluripotent stem cell	Male
CVCL_D6WX	GM29259	Finite cell line	Male

Clinical trials (associated diseases)

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