CLDN7

Summary

CLDN7 (claudin 7, HGNC:2049) is a protein-coding gene on chromosome 17p13.1, encoding Claudin-7 (O95471). Plays a major role in tight junction-specific obliteration of the intercellular space.

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. Differential expression of this gene has been observed in different types of malignancies, including breast cancer, ovarian cancer, hepatocellular carcinomas, urinary tumors, prostate cancer, lung cancer, head and neck cancers, thyroid carcinomas, etc.. Alternatively spliced transcript variants encoding different isoforms have been found.

Source: NCBI Gene 1366 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 39 total
• MANE Select transcript: NM_001307

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2049
Approved symbol	CLDN7
Name	claudin 7
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	Hs.84359
Ensembl gene	ENSG00000181885
Ensembl biotype	protein_coding
OMIM	609131
Entrez	1366

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 20 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000360325, ENST00000397317, ENST00000538261, ENST00000571881, ENST00000571932, ENST00000573745, ENST00000574070, ENST00000575313, ENST00000888702, ENST00000888703, ENST00000888704, ENST00000888705, ENST00000888706, ENST00000888707, ENST00000888708, ENST00000912871, ENST00000912872, ENST00000912873, ENST00000912874, ENST00000912875, ENST00000912876

RefSeq mRNA: 3 — MANE Select: NM_001307 NM_001185022, NM_001185023, NM_001307

CCDS: CCDS11096, CCDS54081

Canonical transcript exons

ENST00000360325 — 4 exons

Exon	Start	End
ENSE00001276852	7260642	7260726
ENSE00002651446	7259903	7260536
ENSE00002675597	7261821	7262478
ENSE00003789326	7260821	7260985

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 99.63.

FANTOM5 (CAGE): breadth broad, TPM avg 44.0101 / max 1255.9422, expressed in 740 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164183	40.3089	479
164184	2.5134	585
164182	0.7015	285
164187	0.2063	95
164186	0.1451	75
164185	0.1350	68

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	99.63	gold quality
lower esophagus mucosa	UBERON:0035834	99.37	gold quality
duodenum	UBERON:0002114	99.15	gold quality
rectum	UBERON:0001052	98.96	gold quality
right uterine tube	UBERON:0001302	98.89	gold quality
esophagus mucosa	UBERON:0002469	98.66	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.29	gold quality
minor salivary gland	UBERON:0001830	97.88	gold quality
saliva-secreting gland	UBERON:0001044	97.84	gold quality
metanephros cortex	UBERON:0010533	97.35	gold quality
body of pancreas	UBERON:0001150	97.03	gold quality
left lobe of thyroid gland	UBERON:0001120	96.88	gold quality
pancreas	UBERON:0001264	96.58	gold quality
islet of Langerhans	UBERON:0000006	96.52	gold quality
thyroid gland	UBERON:0002046	96.48	gold quality
right lobe of thyroid gland	UBERON:0001119	96.39	gold quality
upper lobe of left lung	UBERON:0008952	95.52	gold quality
adult mammalian kidney	UBERON:0000082	95.46	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.29	gold quality
gall bladder	UBERON:0002110	95.01	gold quality
transverse colon	UBERON:0001157	94.74	gold quality
small intestine	UBERON:0002108	94.40	gold quality
tonsil	UBERON:0002372	93.96	gold quality
right lung	UBERON:0002167	93.53	gold quality
placenta	UBERON:0001987	93.25	gold quality
lung	UBERON:0002048	92.85	gold quality
kidney	UBERON:0002113	92.55	gold quality
fallopian tube	UBERON:0003889	91.79	gold quality
vagina	UBERON:0000996	91.65	gold quality
cortex of kidney	UBERON:0001225	91.08	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTBP1, DLX4, ELF3, GRHL3, HDAC1, HNF4A, RUNX3, SNAI1, SOX9, SSRP1, TCF4, TCF7L2, TFAP4, TWIST1

miRNA regulators (miRDB)

20 targeting CLDN7, 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-548C-3P	99.99	74.01	7587
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-12132	99.47	68.90	1341
HSA-MIR-12113	99.32	67.54	1072
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-4539	98.78	67.18	888
HSA-MIR-4664-5P	98.17	65.07	1020
HSA-MIR-5585-5P	97.95	68.80	1024
HSA-MIR-4469	97.93	65.81	1319
HSA-MIR-3198	97.84	65.64	579
HSA-MIR-194-3P	97.36	65.96	1027
HSA-MIR-342-5P	97.25	64.10	817
HSA-MIR-1291	96.28	65.89	1224
HSA-MIR-6775-3P	95.76	65.91	982

Literature-anchored findings (GeneRIF, showing 40)

• Loss of claudin-7 correlates with histological grade in both ductal carcinoma in situ and invasive ductal carcinoma of the breast, providing insight into the potential role of CLDN-7 in the progression and ability of breast cancer cells to disseminate. (PMID:12673207)
• 2 forms of claudin-7, a full-length form with 211 AA residues and a C-terminal truncated form with 158 AA residues, are able to regulate the expression of a tissue-specific protein, prostate-specific antigen, in the LNCaP prostate cancer cell line. (PMID:14502431)
• Loss of claudin-1 expression proved to be a strong predictor of disease recurrence and poor patient survival in stage II colon cancer. (PMID:15475928)
• Claudin-1 and claudin-7 may play a significant role in tumor progression of cervical neoplasia and may represent useful markers for malignant transformation of cervical squamous cells. (PMID:15790437)
• Overexpression of claudin-7 is associated with gastric tumorigenesis (PMID:16049341)
• induction of claudin7 expression by ELF3 appears critical to the formation of the epithelial structures in biphasic synovial sarcoma (PMID:17060315)
• Claudin tight junction proteins in endoscopy biopsy samples showed Barrett’s metaplasia contains more claudin-2 and claudin-3 than found in normal esophageal mucosa, but markedly lower claudins 1 and 5, indicating very different tight junction barriers. (PMID:17103306)
• When compared, adenocarcinomas and squamous cell carcinomas revealed significant differences in CLDN7 expression. (PMID:17418912)
• claudin-7-associated EpCAM is recruited into (tetraspanin-enriched membrane microdomains) and forms a complex with CO-029 and CD44v6 that facilitates metastasis formation (PMID:17579117)
• Results show show that claudin 7 expression changed with the gastric carcinogenic process and that this is implicated in cancer characteristics. (PMID:17611659)
• Claudin-7 to be a candidate expression marker for distinguishing chromophobe renal cell carcinoma from other renal tumor subtypes, including the morphologically similar oncocytoma. (PMID:17922590)
• Reduced claudin-7 expression correlates with loss of differentiation in thyroid neoplasms. (PMID:17962811)
• CLDN-7 is significantly overexpressed in all main histologic types of epithelial ovarian cancer (PMID:18298564)
• The role of extracellular loop domains of claudin-1 in determining tight junctions function, is studied. (PMID:18349130)
• a reduced expression of the claudin-7 gene might lead to venous invasion and liver metastasis in colorectal cancer. (PMID:18357381)
• Claudin-3 and claudin-7 expression in effusions independently predicts poor survival in ovarian cancer. (PMID:18439941)
• claudin-7 overexpression promotes a loss of tumor cell polarization and contributes to tumorigenesis (PMID:18519685)
• neither occludin nor claudin-7 expression was associated with clinicopathologic findings in patients with urothelial carcinoma of the upper urinary tract. (PMID:18550469)
• Claudin-1 plays a crucial role in recruiting occludin to tight junctions, and occludin is involved in intercellular barrier function. (PMID:18560860)
• Aspirin induces gastric epithelial barrier dysfunction by activating p38 MAPK via claudin-7. (PMID:18667601)
• claudin-7 and claudin-8 have potential use as immunohistochemical biomarkers in the differential diagnosis of chromophobe renal cell carcinoma and oncocytoma (PMID:18799195)
• claudin-1 expression is an independent prognosticator of shortened disease-specific patient survival in clinically relevant subgroups of clear cell renal cell carcinoma (PMID:18981000)
• Down-regulation of claudin-7 might lead to altered tight junction structure and be related to the impaired epithelial function in active ulcerative colitis. (PMID:19120888)
• Expression pattern of claudins 5 and 7 distinguishes solid-pseudopapillary from pancreatoblastoma, acinar cell and endocrine tumors of the pancreas. (PMID:19194274)
• claudin-4, in addition to 1 and 5, might be a useful differential diagnostic marker of lung cancer in Korean people. (PMID:19231096)
• is altered in early-stage psoriasis (PMID:19661441)
• Claudins 6, 7, and 9 expressions are closely related to gastric carcinogenesis. (PMID:19960275)
• Claudin-1 was expressed in all 18 cases of Epstein-Barr virus-associated nasopharyngeal carcinoma studied (PMID:20204275)
• Claudin-1, -3, -4, -5, and -7 are expressed in developing human lung from week 12 to week 40 with distinct locations and in divergent quantities. (PMID:20478039)
• Increased expression of claudin-6, claudin-7, or claudin-9 is sufficient to enhance tumorigenic properties of a gastric adenocarcinoma cell line. (PMID:20874001)
• These data suggest that proteasomes regulate claudin-1 localization at the plasma membrane, which changes upon proteasomal inhibition to a Rab5a-mediated endosomal localization. (PMID:20926780)
• Claudin-7 down-regulation is an important feature in oral squamous cell carcinoma (PMID:21083599)
• Analysis of staining intensities of CLDN 1 and 3 is useful as an auxiliary diagnostic and prognostic tool in patients with salivary gland mucoepidermoid carcinoma. (PMID:21184237)
• transcriptional activity of claudin 7 gene not a useful marker of laryngeal tumor (PMID:21193919)
• Claudin-7 mRNA level is decreased already as an early event in colorectal carcinogenesis, probably contributing to the compromised epithelial barrier in adenomas. (PMID:21310043)
• Claudin-7 and tricellulin were markedly reduced at all stages of tumor development. In situ hybridization analysis showed no correlation between HPV infection and altered expression of the tight junction proteins. (PMID:21480761)
• The claudin-7 inhibits cell migration and invasion through ERK/MAPK signaling pathway in response to growth factor stimulation in human lung cancer cells. (PMID:21641901)
• down-regulation of Claudin-7 and overexpression of Slug in lung squamous cell carcinoma and adenocarcinoma (PMID:21645451)
• Claudin-7 is significantly upregulated in epithelial ovarian cancer. (PMID:21789222)
• CD24+ (P=0.07) and claudin-7 positivity (P=0.05) were associated with reduced time of recurrence, suggesting a contribution of these markers to aggressiveness of breast cancer. (PMID:21956537)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cldn7b	ENSDARG00000014047
mus_musculus	Cldn7	ENSMUSG00000018569
rattus_norvegicus	Cldn7	ENSRNOG00000017325

Paralogs (22): CLDN11 (ENSG00000013297), 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), CLDN5 (ENSG00000184113), CLDN6 (ENSG00000184697), CLDN24 (ENSG00000185758), CLDN4 (ENSG00000189143), CLDN9 (ENSG00000213937), CLDN25 (ENSG00000228607), CLDN34 (ENSG00000234469), CLDN23 (ENSG00000253958)

Protein

Protein identifiers

Claudin-7 — O95471 (reviewed: O95471)

All UniProt accessions (7): O95471, A0A384ME58, F5H496, I3L3L6, I3L3X1, K7EL87, K7EP40

UniProt curated annotations — full annotation on UniProt →

Function. Plays a major role in tight junction-specific obliteration of the intercellular space.

Subunit / interactions. Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3. The phosphorylated form interacts with EPCAM. Does not interact with CD81.

Subcellular location. Cell membrane. Basolateral cell membrane. Cell junction. Tight junction.

Tissue specificity. Expressed in kidney, lung and prostate. Isoform 1 seems to be predominant, except in some normal prostate samples, where isoform 2 is the major form. Down-regulated in breast cancers, including ductal carcinoma in situ (DCIS), lobular carcinoma in situ (LCIS) and invasive ductal carcinoma (IDC) (at protein level), as well as in several cancer cell lines. Loss of expression correlates with histological grade, occurring predominantly in high-grade lesions.

Post-translational modifications. Phosphorylated.

Induction. By androgens.

Similarity. Belongs to the claudin family.

Isoforms (2)

UniProt ID	Names	Canonical?
O95471-1	1	yes
O95471-2	2, t-CLDN-7

RefSeq proteins (3): NP_001171951, NP_001171952, NP_001298* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003552	Claudin7	Family
IPR004031	PMP22/EMP/MP20/Claudin	Family
IPR006187	Claudin	Family
IPR017974	Claudin_CS	Conserved_site

Pfam: PF00822

UniProt features (17 total): topological domain 5, transmembrane region 4, sequence variant 2, mutagenesis site 2, chain 1, region of interest 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95471-F1	82.45	0.55

Functional residue map

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

Mutagenesis-validated functional residues (2):

Position	Phenotype
32	interacts with cd81, and exhibits hcv infection susceptibility in cell culture.
48	interacts with cd81, and exhibits hcv infection susceptibility in cell culture.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-420029	Tight junction interactions
R-HSA-9758919	Epithelial-Mesenchymal Transition (EMT) during gastrulation

MSigDB gene sets: 219 (showing top): FXR_IR1_Q6, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_10, GCANCTGNY_MYOD_Q6, AREB6_01, KEGG_TIGHT_JUNCTION, CREBP1_Q2, CREB_Q4, GOBP_CELL_CELL_ADHESION, BORLAK_LIVER_CANCER_EGF_UP, GOBP_CELL_JUNCTION_ORGANIZATION, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, ATF1_Q6, LUI_TARGETS_OF_PAX8_PPARG_FUSION, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN

GO Biological Process (3): cell adhesion (GO:0007155), calcium-independent cell-cell adhesion (GO:0016338), bicellular tight junction assembly (GO:0070830)

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

GO Cellular Component (7): plasma membrane (GO:0005886), bicellular tight junction (GO:0005923), basolateral plasma membrane (GO:0016323), apicolateral plasma membrane (GO:0016327), lateral plasma membrane (GO:0016328), membrane (GO:0016020), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Cell-cell junction organization	1
Gastrulation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
plasma membrane region	2
cellular anatomical structure	2
cellular process	1
cell-cell adhesion	1
apical junction assembly	1
tight junction assembly	1
molecular_function	1
protein binding	1
binding	1
membrane	1
cell periphery	1
apical junction complex	1
tight junction	1
basal plasma membrane	1
plasma membrane	1
cell junction	1

Protein interactions and networks

STRING

2209 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CLDN7	OCLN	Q16625	999
CLDN7	TJP1	Q07157	999
CLDN7	CD81	P18582	997
CLDN7	TJP2	Q9UDY2	995
CLDN7	EPCAM	P16422	984
CLDN7	F11R	Q9Y624	980
CLDN7	TJP3	O95049	966
CLDN7	MARVELD2	Q8N4S9	960
CLDN7	TACSTD2	P09758	925
CLDN7	TSPAN8	P19075	904
CLDN7	PATJ	Q8NI35	899
CLDN7	CD44	P16070	894
CLDN7	CLDN12	P56749	888
CLDN7	CDH1	P12830	883
CLDN7	SCARB1	Q8WTV0	876

IntAct

345 interactions, top by confidence:

A	B	Type	Score
CLDN7	SYNE4	psi-mi:“MI:0915”(physical association)	0.560
SYNE4	CLDN7	psi-mi:“MI:0915”(physical association)	0.560
TTMP	CLDN7	psi-mi:“MI:0915”(physical association)	0.560
TMEM44	CLDN7	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	ANKRD46	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	OLFM4	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	NKG7	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	ERG28	psi-mi:“MI:0915”(physical association)	0.560
CNIH1	CLDN7	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	TMEM97	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	COL4A5	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	JAGN1	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	UBIAD1	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	TMEM11	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	APOD	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	TMEM128	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	MFSD5	psi-mi:“MI:0915”(physical association)	0.560
SERTM1	CLDN7	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	TMEM100	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	LPAR3	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	TMEM140	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	UNC93B1	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	MAL	psi-mi:“MI:0915”(physical association)	0.560
CLDN7	CXCL9	psi-mi:“MI:0915”(physical association)	0.560
CYB5B	CLDN7	psi-mi:“MI:0915”(physical association)	0.560
GPR37L1	CLDN7	psi-mi:“MI:0915”(physical association)	0.560
CYB561D2	CLDN7	psi-mi:“MI:0915”(physical association)	0.560
BMP10	CLDN7	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (84): SYNE4 (Two-hybrid), RHOXF2 (Two-hybrid), CLDN7 (PCA), SCARB1 (Affinity Capture-MS), CLDN7 (Two-hybrid), CLDN7 (Two-hybrid), CLDN7 (Two-hybrid), CLDN7 (Two-hybrid), CLDN7 (Two-hybrid), CLDN7 (Two-hybrid), CLDN7 (Two-hybrid), CLDN7 (Two-hybrid), CLDN7 (Two-hybrid), CLDN7 (Two-hybrid), CLDN7 (Two-hybrid)

ESM2 similar proteins: A0A8C0N7E5, C3VMW3, D3ZQJ0, O00501, O14493, O15551, O19005, O35054, O35912, O54942, O88551, O95471, O95484, O95832, P56745, P56746, P56747, P56748, P56750, P78369, Q2HJ22, Q2KIY2, Q3B7N4, Q5E9L0, Q5QT56, Q5R8E5, Q63400, Q6BBL6, Q6DHB5, Q6DHP1, Q6L708, Q765N9, Q8BXA6, Q8N6F1, Q95KM5, Q9D1D1, Q9ET38, Q9JKD6, Q9QYW5, Q9YH90

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

6 interactions.

A	Effect	B	Mechanism
SNAI1	“down-regulates quantity by repression”	CLDN7	“transcriptional regulation”
CTBP1	“down-regulates quantity by repression”	CLDN7	“transcriptional regulation”
HDAC1	“down-regulates quantity by repression”	CLDN7	“transcriptional regulation”
TACSTD2	“up-regulates quantity”	CLDN7	binding
CLDN7	down-regulates	Epithelial-mesenchymal_transition

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	28
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

637 predictions. Top by Δscore:

Variant	Effect	Δscore
17:7260638:TTA:T	donor_loss	1.0000
17:7260639:TA:T	donor_loss	1.0000
17:7260640:A:AC	donor_gain	1.0000
17:7260640:ACTTA:A	donor_loss	1.0000
17:7260641:C:CA	donor_loss	1.0000
17:7260641:C:CC	donor_gain	1.0000
17:7260817:TCA:T	donor_loss	1.0000
17:7260818:CAC:C	donor_loss	1.0000
17:7260382:A:AC	donor_gain	0.9900
17:7260382:ACT:A	donor_gain	0.9900
17:7260383:C:CC	donor_gain	0.9900
17:7260383:CTC:C	donor_gain	0.9900
17:7260431:AG:A	donor_gain	0.9900
17:7260635:GACTT:G	donor_loss	0.9900
17:7260636:ACTTA:A	donor_loss	0.9900
17:7260641:CTTA:C	donor_gain	0.9900
17:7260641:CTTAA:C	donor_gain	0.9900
17:7260644:A:AC	donor_gain	0.9900
17:7260645:A:C	donor_gain	0.9900
17:7260727:CTG:C	acceptor_loss	0.9900
17:7260728:T:A	acceptor_loss	0.9900
17:7260819:A:AC	donor_gain	0.9900
17:7260819:A:AT	donor_loss	0.9900
17:7260819:ACCTG:A	donor_gain	0.9900
17:7260820:C:CC	donor_gain	0.9900
17:7260820:CCTGC:C	donor_gain	0.9900
17:7260983:CCG:C	acceptor_gain	0.9900
17:7260984:CG:C	acceptor_gain	0.9900
17:7260984:CGC:C	acceptor_gain	0.9900
17:7260986:C:CC	acceptor_gain	0.9900

AlphaMissense

1369 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:7260505:A:G	W169R	0.999
17:7260505:A:T	W169R	0.999
17:7260525:C:T	G162D	0.999
17:7260671:A:C	F148L	0.999
17:7260671:A:T	F148L	0.999
17:7260673:A:G	F148L	0.999
17:7260821:C:G	G130R	0.999
17:7261882:G:C	C54W	0.999
17:7261891:C:A	W51C	0.999
17:7261891:C:G	W51C	0.999
17:7261893:A:G	W51R	0.999
17:7261893:A:T	W51R	0.999
17:7261899:C:G	G49R	0.999
17:7261899:C:T	G49R	0.999
17:7261954:C:A	W30C	0.999
17:7261954:C:G	W30C	0.999
17:7261956:A:G	W30R	0.999
17:7261956:A:T	W30R	0.999
17:7261995:C:G	G17R	0.999
17:7260474:C:T	G179D	0.998
17:7260475:C:G	G179R	0.998
17:7260477:C:T	G178E	0.998
17:7260478:C:G	G178R	0.998
17:7260478:C:T	G178R	0.998
17:7260507:C:T	G168D	0.998
17:7260508:C:G	G168R	0.998
17:7260525:C:A	G162V	0.998
17:7260526:C:G	G162R	0.998
17:7260672:A:C	F148C	0.998
17:7260908:C:G	G101R	0.998

dbSNP variants (sampled 300 via entrez): RS1000420016 (17:7262465 C>T), RS1001008709 (17:7260316 C>G,T), RS1001778472 (17:7264558 T>TG), RS1002355560 (17:7263725 C>G), RS1002503196 (17:7263072 T>C), RS1002816621 (17:7263412 C>T), RS1003509778 (17:7261763 GCGCCACCC>G), RS1003770544 (17:7264965 G>A), RS1003791768 (17:7261996 C>A,T), RS1003871578 (17:7261572 T>C), RS1003928954 (17:7261377 C>T), RS1004744599 (17:7260628 G>A,T), RS1005670149 (17:7264898 C>G,T), RS1005796959 (17:7259857 G>A), RS1006218809 (17:7263147 C>T)

Disease associations

OMIM: gene MIM:609131 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST005146_10	Birth weight	1.000000e-15
GCST007429_124	Lung function (FVC)	1.000000e-10
GCST007432_62	FEV1	2.000000e-07
GCST008362_88	Birth weight	1.000000e-24
GCST008363_6	Offspring birth weight	5.000000e-11
GCST009597_251	Multiple sclerosis	3.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004344	birth weight
EFO:0004312	vital capacity
EFO:0004314	forced expiratory volume
EFO:0005939	parental genotype effect 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
rs4562	CLDN7, ELP5	3	0.00	1	methylphenidate

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	6
Tobacco Smoke Pollution	increases expression, affects expression, decreases expression	5
trichostatin A	affects cotreatment, increases expression	3
sodium arsenite	decreases expression, increases expression	3
Cisplatin	increases expression, decreases response to substance, affects reaction, decreases expression, affects cotreatment	3
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
belinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	decreases expression, decreases methylation	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Smoke	decreases expression, decreases reaction	2
Aflatoxin B1	decreases expression	2
Cadmium Chloride	decreases expression	2
Okadaic Acid	increases expression, decreases expression	2
Particulate Matter	affects cotreatment, increases abundance, increases expression	2
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	affects cotreatment, increases expression	1
lead acetate	decreases expression	1
arsenite	decreases methylation	1
sulforaphane	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
cupric chloride	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
pinostrobin	increases expression	1
alpinetin	decreases expression, decreases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C3VD	HT-1080/hCLDN-7	Cancer cell line	Male

Clinical trials (associated diseases)

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