CDH7

Summary

CDH7 (cadherin 7, HGNC:1766) is a protein-coding gene on chromosome 18q22.1, encoding Cadherin-7 (Q9ULB5). Cadherins are calcium-dependent cell adhesion proteins.

This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types. Mutations in this gene may be associated with bipolar disease in human patients. This gene is present in a gene cluster on chromosome 18.

Source: NCBI Gene 1005 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 142 total
• MANE Select transcript: NM_004361

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1766
Approved symbol	CDH7
Name	cadherin 7
Location	18q22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000081138
Ensembl biotype	protein_coding
OMIM	605806
Entrez	1005

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000323011, ENST00000397968, ENST00000536984, ENST00000581601

RefSeq mRNA: 4 — MANE Select: NM_004361 NM_001317214, NM_001362438, NM_004361, NM_033646

CCDS: CCDS11993, CCDS82259

Canonical transcript exons

ENST00000397968 — 12 exons

Exon	Start	End
ENSE00000523291	65809704	65809998
ENSE00000670311	65822081	65822248
ENSE00000670313	65824644	65824831
ENSE00000670315	65843812	65844065
ENSE00000670317	65857816	65857952
ENSE00000670320	65858925	65859046
ENSE00000950327	65859708	65859825
ENSE00000950328	65862666	65862917
ENSE00001170664	65762647	65763052
ENSE00001530997	65880401	65890337
ENSE00001530998	65751012	65751150
ENSE00001745971	65814485	65814604

Expression profiles

Bgee: expression breadth broad, 80 present calls, max score 78.99.

FANTOM5 (CAGE): breadth broad, TPM avg 0.7564 / max 62.4396, expressed in 235 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
170680	0.4040	181
170677	0.2156	65
170678	0.0559	31
170679	0.0557	26
170681	0.0253	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	78.99	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.26	gold quality
cerebellar cortex	UBERON:0002129	75.32	gold quality
cerebellar hemisphere	UBERON:0002245	75.18	gold quality
cerebellum	UBERON:0002037	75.03	gold quality
right hemisphere of cerebellum	UBERON:0014890	73.28	gold quality
pons	UBERON:0000988	73.26	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	73.11	gold quality
tibial nerve	UBERON:0001323	72.04	gold quality
cranial nerve II	UBERON:0000941	69.83	gold quality
buccal mucosa cell	CL:0002336	69.36	silver quality
Brodmann (1909) area 23	UBERON:0013554	65.05	silver quality
primary visual cortex	UBERON:0002436	65.04	gold quality
prefrontal cortex	UBERON:0000451	64.83	gold quality
postcentral gyrus	UBERON:0002581	64.61	silver quality
putamen	UBERON:0001874	64.18	gold quality
pigmented layer of retina	UBERON:0001782	63.49	gold quality
substantia nigra pars compacta	UBERON:0001965	62.11	gold quality
superior frontal gyrus	UBERON:0002661	61.85	gold quality
occipital lobe	UBERON:0002021	61.12	gold quality
frontal cortex	UBERON:0001870	60.65	gold quality
parietal lobe	UBERON:0001872	60.64	silver quality
caudate nucleus	UBERON:0001873	60.57	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	60.20	gold quality
hypothalamus	UBERON:0001898	59.67	gold quality
neocortex	UBERON:0001950	59.60	gold quality
Brodmann (1909) area 9	UBERON:0013540	59.39	gold quality
nucleus accumbens	UBERON:0001882	58.87	gold quality
brain	UBERON:0000955	58.44	gold quality
adenohypophysis	UBERON:0002196	57.90	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-5	yes	563.00
E-ANND-3	yes	7.14
E-GEOD-99795	no	30.50

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

63 targeting CDH7, 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-4795-3P	100.00	74.62	4024
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-4320	99.75	65.80	793
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-4502	99.65	66.99	1021
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-24-3P	99.59	69.97	1934

Literature-anchored findings (GeneRIF, showing 3)

• During oncogenesis, cadherin-7, N-cad and E-cad could be used as an efficient marker set for melanoma. (PMID:15273735)
• Cadherin-7 interacts with melanoma inhibitory activity protein and negatively modulates melanoma cell migration. (PMID:19200257)
• Our results support CDH7 to be a risk factor of major depressive disorder in the Han Chinese population (PMID:24554215)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cdh7b	ENSDARG00000017649
danio_rerio	cdh7a	ENSDARG00000023542
mus_musculus	Cdh7	ENSMUSG00000026312
rattus_norvegicus	Cdh7	ENSRNOG00000032490

Paralogs (33): CDH1 (ENSG00000039068), CDH10 (ENSG00000040731), CDH3 (ENSG00000062038), CDH19 (ENSG00000071991), CDHR2 (ENSG00000074276), CDH17 (ENSG00000079112), PCDH11Y (ENSG00000099715), CDHR5 (ENSG00000099834), CDH20 (ENSG00000101542), PCDH11X (ENSG00000102290), CDH23 (ENSG00000107736), CDH9 (ENSG00000113100), CDH6 (ENSG00000113361), CDH26 (ENSG00000124215), CDHR3 (ENSG00000128536), CDH15 (ENSG00000129910), CDH24 (ENSG00000139880), CDH11 (ENSG00000140937), CDH13 (ENSG00000140945), CDH18 (ENSG00000145526), CDHR1 (ENSG00000148600), CDH22 (ENSG00000149654), CDH8 (ENSG00000150394), CDH12 (ENSG00000154162), PCDH1 (ENSG00000156453), DCHS1 (ENSG00000166341), PCDH7 (ENSG00000169851), CDH2 (ENSG00000170558), CDH4 (ENSG00000179242), CDH5 (ENSG00000179776), PCDH9 (ENSG00000184226), DCHS2 (ENSG00000197410), PCDH20 (ENSG00000280165)

Protein

Protein identifiers

Cadherin-7 — Q9ULB5 (reviewed: Q9ULB5)

All UniProt accessions (2): Q9ULB5, F5H5X9

UniProt curated annotations — full annotation on UniProt →

Function. Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.

Subcellular location. Cell membrane.

Domain organisation. Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.

RefSeq proteins (4): NP_001304143, NP_001349367, NP_004352, NP_387450 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000233	Cadherin_Y-type_LIR	Domain
IPR002126	Cadherin-like_dom	Domain
IPR015919	Cadherin-like_sf	Homologous_superfamily
IPR020894	Cadherin_CS	Conserved_site
IPR027397	Catenin-bd_sf	Homologous_superfamily
IPR039808	Cadherin	Family

Pfam: PF00028, PF01049

UniProt features (18 total): domain 5, sequence conflict 3, glycosylation site 2, sequence variant 2, topological domain 2, signal peptide 1, propeptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9ULB5-F1	78.22	0.43

Functional residue map

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

Glycosylation sites (2): 449, 530

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-418990	Adherens junctions interactions
R-HSA-1500931	Cell-Cell communication
R-HSA-421270	Cell-cell junction organization
R-HSA-446728	Cell junction organization

MSigDB gene sets: 119 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, BENPORATH_ES_WITH_H3K27ME3, GOBP_CALCIUM_DEPENDENT_CELL_CELL_ADHESION, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, GOBP_CELL_CELL_ADHESION, GOBP_CELL_JUNCTION_ORGANIZATION, AACTTT_UNKNOWN, chr18q22, GOBP_CELL_JUNCTION_ASSEMBLY, GOBP_ADHERENS_JUNCTION_ORGANIZATION, GOBP_CELL_CELL_JUNCTION_ASSEMBLY, GOCC_CELL_CELL_JUNCTION, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOCC_ANCHORING_JUNCTION, GOCC_EXTRINSIC_COMPONENT_OF_MEMBRANE

GO Biological Process (9): cell morphogenesis (GO:0000902), cell-cell junction assembly (GO:0007043), homophilic cell-cell adhesion (GO:0007156), calcium-dependent cell-cell adhesion (GO:0016339), cell migration (GO:0016477), adherens junction organization (GO:0034332), cell-cell adhesion mediated by cadherin (GO:0044331), cell-cell adhesion (GO:0098609), cell adhesion (GO:0007155)

GO Molecular Function (4): calcium ion binding (GO:0005509), beta-catenin binding (GO:0008013), cadherin binding (GO:0045296), metal ion binding (GO:0046872)

GO Cellular Component (4): plasma membrane (GO:0005886), adherens junction (GO:0005912), catenin complex (GO:0016342), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Cell-cell junction organization	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	3
cell-cell junction organization	2
anatomical structure morphogenesis	1
cell junction assembly	1
cell motility	1
cell adhesion	1
cellular process	1
metal ion binding	1
protein binding	1
cell adhesion molecule binding	1
cation binding	1
membrane	1
cell periphery	1
cell-cell junction	1
extrinsic component of plasma membrane	1
plasma membrane protein complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

974 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CDH7	CDH15	P55291	656
CDH7	CDH10	Q9Y6N8	626
CDH7	CDH2	P19022	616
CDH7	CDH6	P55285	569
CDH7	CTNNB1	P35222	521
CDH7	CDH4	P55283	502
CDH7	SMARCA4	P51532	498
CDH7	CDC42	P21181	475
CDH7	MIA	Q16674	457
CDH7	CDH8	P55286	450
CDH7	CDH3	P22223	449
CDH7	POC5	Q8NA72	444
CDH7	PAX1	P15863	443
CDH7	CDH12	P55289	438
CDH7	COMP	P49747	425

IntAct

3 interactions, top by confidence:

A	B	Type	Score
FGF21	CDH7	psi-mi:“MI:0915”(physical association)	0.370
CTNNB1	IGLL5	psi-mi:“MI:0914”(association)	0.350

BioGRID (11): CDH7 (Affinity Capture-Western), CDH7 (Affinity Capture-MS), CDH7 (Affinity Capture-MS), LAMP2 (Co-fractionation), CDH7 (Co-fractionation), DAB2IP (Co-fractionation), EVA1A (Co-fractionation), KARS (Co-fractionation), KLHL20 (Co-fractionation), CDH7 (Protein-peptide), FGF21 (Two-hybrid)

ESM2 similar proteins: A0A1S4GGP7, B3EWY9, B3EWZ3, B8V7Q1, B8VIW9, F1QSQ0, F8W3X3, G5EDK5, O35902, O54800, P33450, P35443, P49744, P55280, P55285, P55286, P55289, P70407, P70408, P79995, P97291, P97326, Q08DJ5, Q09165, Q13634, Q19319, Q24298, Q3SWX5, Q5DWV2, Q5RJH3, Q68SP4, Q6JAN0, Q6ZTQ4, Q8BL00, Q8BM92, Q8VHN7, Q8WXG9, Q90762, Q90763, Q91838

Diamond homologs: A0A8M2BIB6, B0KW95, B2KI42, B4USZ0, F1PAA9, F1QSQ0, O02840, O35902, O54800, O55075, O55111, O93319, P08641, P09803, P10287, P10288, P12830, P15116, P19022, P19534, P19535, P20310, P22223, P24503, P30944, P32926, P33145, P33146, P33147, P33148, P33150, P33151, P33152, P33545, P39038, P55280, P55283, P55284, P55285, P55286

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
calcium(2+)	“up-regulates activity”	CDH7	“chemical activation”
CDH7	“up-regulates activity”	CTNNB1	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	97
Likely benign	3
Benign	36

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

5158 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:65809777:T:C	F95S	1.000
18:65809797:G:T	G102W	1.000
18:65809798:G:A	G102E	1.000
18:65809798:G:T	G102V	1.000
18:65809828:G:C	R112P	1.000
18:65809926:G:C	D145H	1.000
18:65809927:A:C	D145A	1.000
18:65809927:A:T	D145V	1.000
18:65809928:T:A	D145E	1.000
18:65809928:T:G	D145E	1.000
18:65809934:C:A	N147K	1.000
18:65809934:C:G	N147K	1.000
18:65809935:G:C	D148H	1.000
18:65809936:A:C	D148A	1.000
18:65809936:A:G	D148G	1.000
18:65809936:A:T	D148V	1.000
18:65809945:C:A	P151H	1.000
18:65814520:G:C	D181H	1.000
18:65814521:A:C	D181A	1.000
18:65822198:T:A	V248D	1.000
18:65857935:T:A	V452D	1.000
18:65858991:C:A	P480H	1.000
18:65762987:T:A	W49R	0.999
18:65762987:T:C	W49R	0.999
18:65762989:G:C	W49C	0.999
18:65762989:G:T	W49C	0.999
18:65763047:G:A	G69R	0.999
18:65763047:G:C	G69R	0.999
18:65763048:G:A	G69E	0.999
18:65809705:T:C	L71P	0.999

dbSNP variants (sampled 300 via entrez): RS1000039196 (18:65761628 T>G), RS1000041233 (18:65864617 A>G), RS1000058661 (18:65864840 G>A,C), RS1000062656 (18:65792761 G>A), RS1000072487 (18:65809603 A>C), RS1000079660 (18:65889863 C>T), RS1000120236 (18:65830711 T>A), RS1000144590 (18:65871127 C>A), RS1000169806 (18:65819095 A>G), RS1000236152 (18:65764422 A>G), RS1000236743 (18:65889621 A>G), RS1000240407 (18:65830963 T>A,C), RS1000268681 (18:65764750 T>C), RS1000284648 (18:65848098 T>A), RS1000299419 (18:65756847 A>T)

Disease associations

OMIM: gene MIM:605806 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	8
mercuric bromide	decreases expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
methylmercuric chloride	increases expression	1
methylselenic acid	increases expression	1
potassium perchlorate	increases expression	1
trichostatin A	decreases expression	1
CGP 52608	affects binding, increases reaction	1
deguelin	increases expression	1
bazedoxifene	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
Sunitinib	increases expression	1
Diazinon	decreases methylation	1
Diethylhexyl Phthalate	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Aflatoxin B1	decreases methylation	1
Asbestos, Crocidolite	decreases methylation	1
Asbestos, Amosite	decreases methylation	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery