CDH6
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Summary
CDH6 (cadherin 6, HGNC:1765) is a protein-coding gene on chromosome 5p13.3, encoding Cadherin-6 (P55285). Cadherins are calcium-dependent cell adhesion proteins.
This gene encodes a member of the cadherin superfamily. Cadherins are membrane glycoproteins that mediate homophilic cell-cell adhesion and play critical roles in cell differentiation and morphogenesis. The encoded protein is a type II cadherin and may play a role in kidney development as well as endometrium and placenta formation. Decreased expression of this gene may be associated with tumor growth and metastasis.
Source: NCBI Gene 1004 — RefSeq curated summary.
At a glance
- GWAS associations: 26
- Clinical variants (ClinVar): 85 total
- MANE Select transcript:
NM_004932
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1765 |
| Approved symbol | CDH6 |
| Name | cadherin 6 |
| Location | 5p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000113361 |
| Ensembl biotype | protein_coding |
| OMIM | 603007 |
| Entrez | 1004 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 4 protein_coding, 3 retained_intron
ENST00000265071, ENST00000504835, ENST00000506396, ENST00000508132, ENST00000514738, ENST00000899823, ENST00000899824
RefSeq mRNA: 2 — MANE Select: NM_004932
NM_001362435, NM_004932
CCDS: CCDS3894
Canonical transcript exons
ENST00000265071 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000971065 | 31267346 | 31267701 |
| ENSE00000971069 | 31302111 | 31302298 |
| ENSE00000971070 | 31305174 | 31305427 |
| ENSE00000971071 | 31313318 | 31313454 |
| ENSE00000971072 | 31316208 | 31316329 |
| ENSE00001006058 | 31293962 | 31294256 |
| ENSE00001390780 | 31322818 | 31329146 |
| ENSE00001701765 | 31317673 | 31317924 |
| ENSE00003497071 | 31297289 | 31297408 |
| ENSE00003544819 | 31317375 | 31317492 |
| ENSE00003582736 | 31299464 | 31299631 |
| ENSE00003842115 | 31193686 | 31193886 |
Expression profiles
Bgee: expression breadth ubiquitous, 228 present calls, max score 96.27.
FANTOM5 (CAGE): breadth broad, TPM avg 22.2447 / max 634.4456, expressed in 761 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 55954 | 13.0349 | 678 |
| 55952 | 6.0245 | 619 |
| 55953 | 2.0013 | 493 |
| 55955 | 0.7106 | 373 |
| 55956 | 0.4439 | 259 |
| 55958 | 0.0295 | 11 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| olfactory bulb | UBERON:0002264 | 96.27 | gold quality |
| type B pancreatic cell | CL:0000169 | 96.08 | silver quality |
| tongue squamous epithelium | UBERON:0006919 | 88.14 | gold quality |
| nephron tubule | UBERON:0001231 | 87.29 | gold quality |
| tibial artery | UBERON:0007610 | 86.83 | gold quality |
| popliteal artery | UBERON:0002250 | 86.82 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 84.86 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 84.83 | gold quality |
| islet of Langerhans | UBERON:0000006 | 84.64 | gold quality |
| endothelial cell | CL:0000115 | 84.47 | gold quality |
| kidney epithelium | UBERON:0004819 | 84.30 | gold quality |
| kidney | UBERON:0002113 | 83.84 | gold quality |
| diaphragm | UBERON:0001103 | 82.68 | gold quality |
| oviduct epithelium | UBERON:0004804 | 82.28 | gold quality |
| vena cava | UBERON:0004087 | 82.12 | gold quality |
| gall bladder | UBERON:0002110 | 82.11 | gold quality |
| sural nerve | UBERON:0015488 | 82.07 | gold quality |
| cortical plate | UBERON:0005343 | 81.87 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 81.70 | gold quality |
| metanephros cortex | UBERON:0010533 | 81.68 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 81.22 | gold quality |
| metanephros | UBERON:0000081 | 81.12 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 80.84 | gold quality |
| visceral pleura | UBERON:0002401 | 80.83 | gold quality |
| renal glomerulus | UBERON:0000074 | 80.82 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 80.64 | gold quality |
| putamen | UBERON:0001874 | 80.55 | gold quality |
| cervix epithelium | UBERON:0004801 | 80.35 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 80.29 | gold quality |
| calcaneal tendon | UBERON:0003701 | 79.78 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75140 | yes | 996.49 |
| E-CURD-10 | yes | 728.25 |
| E-MTAB-7407 | yes | 606.25 |
| E-GEOD-130473 | yes | 407.34 |
| E-GEOD-114530 | yes | 367.78 |
| E-GEOD-75367 | yes | 39.79 |
| E-HCAD-10 | yes | 22.86 |
| E-ANND-3 | yes | 13.30 |
| E-GEOD-70580 | no | 59.95 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): BARX2, DNMT3A, HOXA1
miRNA regulators (miRDB)
227 targeting CDH6, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
Literature-anchored findings (GeneRIF, showing 10)
- The chromatin modifications were determined at five PRC2 targets commonly underexpressed in multiple myeloma (CIITA, CXCL12, GATA2, CDH6 and ICSBP/IRF8). The selected genes were confirmed to be underexpressed in MM compared to normal plasma cells. (PMID:20634887)
- CDH6 is under the control of the transcription factor RUNX2, which we previously described as a crucial mediator of the Id1 pro-invasive function in thyroid tumor cells. (PMID:24069422)
- Data indicate that BRAFV600E, P-cadherin and cadherin 6 protein expressions were correlated with one another. (PMID:26285159)
- Tumor suppressor genes deleted in liver cancer 1 (DLC1), F-box/WD-repeat-containing protein 7 (FBXW7), and cadherin-6 (CDH6) were identified as presumed targets in Cholangiocarcinoma (CC).Inverse correlation between promoter methylation and expression suggested miR-129-2 and members of the miR-200 family (miR-200a, miR-200b, and miR-429) as novel tumor suppressors and oncomiRs, respectively, in CC (PMID:27593557)
- our findings demonstrate that CDH6 exerts as an important independent biomarker that could predict human osteosarcoma clinical outcomes. miR-223-3p can inhibit cell invasion, migration, growth, and proliferation in osteosarcoma by directly targeting CDH6 (PMID:29628305)
- The low endometrial expression of beta-catenin, E-cadherin and K-cadherin were associated to fertility-related problems, such as primary intertility and recurrent pregnancy loss. (PMID:30806528)
- CDH6 and HAGH protein levels in plasma associate with Alzheimer’s disease in APOE epsilon4 carriers. (PMID:32427856)
- Characterization of the role for cadherin 6 in the regulation of human endometrial receptivity. (PMID:32600462)
- The GLI2/CDH6 axis enhances migration, invasion and mitochondrial fission of stomach adenocarcinoma cells. (PMID:37523816)
- Cadherin-6 is a novel mediator for the migration of mesenchymal stem cells to glioblastoma cells in response to stromal cell-derived factor-1. (PMID:38719785)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cdh6 | ENSDARG00000014522 |
| mus_musculus | Cdh6 | ENSMUSG00000039385 |
| rattus_norvegicus | Cdh6 | ENSRNOG00000013535 |
Paralogs (33): CDH1 (ENSG00000039068), CDH10 (ENSG00000040731), CDH3 (ENSG00000062038), CDH19 (ENSG00000071991), CDHR2 (ENSG00000074276), CDH17 (ENSG00000079112), CDH7 (ENSG00000081138), PCDH11Y (ENSG00000099715), CDHR5 (ENSG00000099834), CDH20 (ENSG00000101542), PCDH11X (ENSG00000102290), CDH23 (ENSG00000107736), CDH9 (ENSG00000113100), 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-6 — P55285 (reviewed: P55285)
Alternative names: Kidney cadherin
All UniProt accessions (2): D6RF86, P55285
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.
Tissue specificity. Highly expressed in brain, cerebellum, and kidney. Lung, pancreas, and gastric mucosa show a weak expression. Also expressed in certain liver and kidney carcinomas.
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.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P55285-1 | 1 | yes |
| P55285-2 | 2 |
RefSeq proteins (2): NP_001349364, NP_004923* (*=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 (36 total): strand 9, glycosylation site 6, domain 5, modified residue 2, splice variant 2, sequence conflict 2, turn 2, topological domain 2, signal peptide 1, propeptide 1, region of interest 1, compositionally biased region 1, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5VEB | X-RAY DIFFRACTION | 2.34 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P55285-F1 | 78.67 | 0.47 |
Antibody-complex structures (SAbDab): 1 — 5VEB
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): 786, 790
Glycosylation sites (6): 49, 255, 399, 437, 455, 536
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: 221 (showing top):
BENPORATH_ES_WITH_H3K27ME3, TGACCTY_ERR1_Q2, TAL1ALPHAE47_01, CHX10_01, CAGCTG_AP4_Q5, GOBP_CALCIUM_DEPENDENT_CELL_CELL_ADHESION, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, GOBP_CELL_CELL_ADHESION, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_CELL_JUNCTION_ORGANIZATION, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_2_DN, OCT1_03, IRF1_Q6, BROWNE_HCMV_INFECTION_14HR_DN, JAZAG_TGFB1_SIGNALING_VIA_SMAD4_UP
GO Biological Process (11): cell morphogenesis (GO:0000902), cell-cell junction assembly (GO:0007043), cell adhesion (GO:0007155), homophilic cell-cell adhesion (GO:0007156), Notch signaling pathway (GO:0007219), calcium-dependent cell-cell adhesion (GO:0016339), cell migration (GO:0016477), adherens junction organization (GO:0034332), cell-cell adhesion mediated by cadherin (GO:0044331), synaptic membrane adhesion (GO:0099560), cell-cell adhesion (GO:0098609)
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 (8): nucleoplasm (GO:0005654), plasma membrane (GO:0005886), adherens junction (GO:0005912), catenin complex (GO:0016342), cell junction (GO:0030054), glutamatergic synapse (GO:0098978), membrane (GO:0016020), synapse (GO:0045202)
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 | 4 |
| cellular anatomical structure | 3 |
| cell-cell junction organization | 2 |
| anatomical structure morphogenesis | 1 |
| cell junction assembly | 1 |
| cellular process | 1 |
| cell surface receptor signaling pathway | 1 |
| cell motility | 1 |
| synapse organization | 1 |
| cell adhesion | 1 |
| metal ion binding | 1 |
| protein binding | 1 |
| cell adhesion molecule binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell-cell junction | 1 |
| extrinsic component of plasma membrane | 1 |
| plasma membrane protein complex | 1 |
| synapse | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1158 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CDH6 | CTNNA1 | P35221 | 720 |
| CDH6 | BNIP3L | O60238 | 689 |
| CDH6 | GABARAP | O95166 | 688 |
| CDH6 | CDH15 | P55291 | 669 |
| CDH6 | CDH2 | P19022 | 593 |
| CDH6 | CDH19 | Q9H159 | 576 |
| CDH6 | CTNNB1 | P35222 | 573 |
| CDH6 | CDH20 | Q9HBT6 | 571 |
| CDH6 | CDH7 | Q9ULB5 | 569 |
| CDH6 | CDH10 | Q9Y6N8 | 539 |
| CDH6 | VEZT | Q9HBM0 | 525 |
| CDH6 | LIN7A | O14910 | 511 |
| CDH6 | TJP1 | Q07157 | 504 |
| CDH6 | RUNX2 | Q13950 | 502 |
| CDH6 | CDH3 | P22223 | 482 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRPV2 | CDH6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CTNNB1 | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (8): CDH6 (Positive Genetic), CDH6 (Affinity Capture-Western), CDH6 (Co-localization), CDH18 (Co-localization), CDH6 (Biochemical Activity), CDH6 (Affinity Capture-MS), CDH6 (Affinity Capture-MS), CDH6 (Protein-peptide)
ESM2 similar proteins: A0A8M2BIB6, F1QSQ0, F8W3X3, H2EQR6, O35902, O54800, O55111, O93319, P32926, P33545, P55280, P55285, P55286, P55287, P55288, P55289, P55292, P55849, P55850, P70407, P70408, P79995, P97291, P97326, Q01107, Q02413, Q02487, Q08554, Q08DJ5, Q13634, Q14126, Q14574, Q28060, Q3SWX5, Q5DWV1, Q5RJH3, Q61495, Q68SP4, Q6W3B0, Q7TMD7
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” | CDH6 | “chemical activation” |
| CDH6 | “up-regulates activity” | CTNNB1 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
85 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 68 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2655 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:31193873:G:GT | donor_gain | 1.0000 |
| 5:31294217:G:GT | donor_gain | 1.0000 |
| 5:31297285:ACAGG:A | acceptor_loss | 1.0000 |
| 5:31297286:CAGGT:C | acceptor_loss | 1.0000 |
| 5:31297287:A:AG | acceptor_gain | 1.0000 |
| 5:31297287:A:AT | acceptor_loss | 1.0000 |
| 5:31297288:G:GA | acceptor_gain | 1.0000 |
| 5:31297288:GGT:G | acceptor_gain | 1.0000 |
| 5:31297288:GGTA:G | acceptor_gain | 1.0000 |
| 5:31297288:GGTAC:G | acceptor_gain | 1.0000 |
| 5:31299454:A:AG | acceptor_gain | 1.0000 |
| 5:31299455:C:G | acceptor_gain | 1.0000 |
| 5:31299630:GA:G | donor_gain | 1.0000 |
| 5:31299632:G:GG | donor_gain | 1.0000 |
| 5:31302275:G:GT | donor_gain | 1.0000 |
| 5:31302276:A:T | donor_gain | 1.0000 |
| 5:31302295:AAAGG:A | donor_loss | 1.0000 |
| 5:31302296:AAGG:A | donor_loss | 1.0000 |
| 5:31302299:G:GA | donor_loss | 1.0000 |
| 5:31302300:T:A | donor_loss | 1.0000 |
| 5:31305159:A:AG | acceptor_gain | 1.0000 |
| 5:31305160:C:G | acceptor_gain | 1.0000 |
| 5:31305428:G:GG | donor_gain | 1.0000 |
| 5:31313450:GATCA:G | donor_gain | 1.0000 |
| 5:31313455:G:GG | donor_gain | 1.0000 |
| 5:31316195:T:A | acceptor_gain | 1.0000 |
| 5:31316196:G:A | acceptor_gain | 1.0000 |
| 5:31316328:AG:A | donor_loss | 1.0000 |
| 5:31316329:GG:G | donor_loss | 1.0000 |
| 5:31316330:GTG:G | donor_loss | 1.0000 |
AlphaMissense
5198 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:31294001:T:G | Y90D | 1.000 |
| 5:31294035:T:C | F101S | 1.000 |
| 5:31294056:G:A | G108D | 1.000 |
| 5:31294056:G:T | G108V | 1.000 |
| 5:31294062:T:A | I110K | 1.000 |
| 5:31294110:T:C | L126P | 1.000 |
| 5:31294116:C:A | A128D | 1.000 |
| 5:31294167:T:C | F145S | 1.000 |
| 5:31294185:A:C | D151A | 1.000 |
| 5:31294185:A:T | D151V | 1.000 |
| 5:31294194:A:C | D154A | 1.000 |
| 5:31267636:T:A | W55R | 0.999 |
| 5:31267636:T:C | W55R | 0.999 |
| 5:31267638:G:C | W55C | 0.999 |
| 5:31267638:G:T | W55C | 0.999 |
| 5:31267642:T:A | W57R | 0.999 |
| 5:31267642:T:C | W57R | 0.999 |
| 5:31267644:G:C | W57C | 0.999 |
| 5:31267644:G:T | W57C | 0.999 |
| 5:31267696:G:C | G75R | 0.999 |
| 5:31267697:G:A | G75D | 0.999 |
| 5:31293963:T:C | L77S | 0.999 |
| 5:31294001:T:C | Y90H | 0.999 |
| 5:31294002:A:C | Y90S | 0.999 |
| 5:31294008:T:A | L92H | 0.999 |
| 5:31294008:T:C | L92P | 0.999 |
| 5:31294035:T:G | F101C | 0.999 |
| 5:31294055:G:C | G108R | 0.999 |
| 5:31294055:G:T | G108C | 0.999 |
| 5:31294062:T:G | I110R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000026608 (5:31286147 A>G), RS1000030210 (5:31248090 G>A), RS1000045012 (5:31197836 A>G), RS1000049449 (5:31313151 T>C), RS1000064624 (5:31200591 C>T), RS1000116398 (5:31210897 T>C), RS1000158371 (5:31258881 G>A,C), RS1000178652 (5:31298071 G>A), RS1000221609 (5:31262242 A>G), RS1000264638 (5:31207178 G>T), RS1000289070 (5:31291047 A>G), RS1000299943 (5:31260219 C>T), RS1000310953 (5:31247704 C>T), RS1000318491 (5:31220155 G>A), RS1000373249 (5:31213527 C>A,T)
Disease associations
OMIM: gene MIM:603007 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
26 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000770_5 | Emphysema-related traits | 2.000000e-06 |
| GCST001277_1 | Liver enzyme levels (gamma-glutamyl transferase) | 1.000000e-09 |
| GCST002408_1 | Response to methotrexate in juvenile idiopathic arthritis | 6.000000e-07 |
| GCST003251_17 | Late-onset myasthenia gravis | 4.000000e-06 |
| GCST003818_21 | Resting heart rate | 4.000000e-11 |
| GCST004172_2 | Rheumatoid arthritis | 1.000000e-08 |
| GCST004174_2 | Rheumatoid arthritis (rheumatoid factor and/or anti-cyclic citrullinated peptide seropositive) | 5.000000e-08 |
| GCST006019_48 | Gamma glutamyl transferase levels | 2.000000e-08 |
| GCST006288_212 | Heel bone mineral density | 7.000000e-07 |
| GCST006288_531 | Heel bone mineral density | 2.000000e-09 |
| GCST006979_763 | Heel bone mineral density | 7.000000e-24 |
| GCST007324_146 | Adventurousness | 2.000000e-09 |
| GCST007325_283 | General risk tolerance (MTAG) | 1.000000e-12 |
| GCST007327_75 | Smoking status (ever vs never smokers) | 4.000000e-08 |
| GCST008399_13 | Cocaine dependence | 9.000000e-06 |
| GCST009144_28 | Disease progression in age-related macular degeneration (adjusted for baseline) | 8.000000e-07 |
| GCST010292_6 | Response to lamotrigine and valproic acid in genetic generalized epilepsy | 4.000000e-06 |
| GCST010572_2 | Sweet taste preference | 5.000000e-06 |
| GCST011349_1 | Gamma glutamyl transferase levels | 2.000000e-11 |
| GCST012033_10 | Sleep (1/3-day periodicity) | 9.000000e-09 |
| GCST012322_30 | Triglyceride levels x SSRI defined daily dose interaction in schizophrenia or bipolar disorder | 4.000000e-09 |
| GCST90011898_129 | Alanine aminotransferase levels | 6.000000e-25 |
| GCST90011899_46 | Aspartate aminotransferase levels | 1.000000e-14 |
| GCST90013407_180 | Liver enzyme levels (gamma-glutamyl transferase) | 1.000000e-170 |
| GCST90013663_102 | Alanine aminotransferase levels | 1.000000e-36 |
| GCST90013664_24 | Aspartate aminotransferase levels | 2.000000e-18 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004532 | serum gamma-glutamyl transferase measurement |
| EFO:0007791 | rheumatoid factor seropositivity measurement |
| EFO:0007837 | anti-citrullinated protein antibody seropositivity |
| EFO:0009270 | heel bone mineral density |
| EFO:0008579 | risk-taking behaviour |
| EFO:0004318 | smoking behavior |
| EFO:0008336 | disease progression measurement |
| EFO:0010156 | sweet liking measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0005658 | response to selective serotonin reuptake inhibitor |
| EFO:0004736 | aspartate aminotransferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
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 | 8 |
| methylmercuric chloride | increases expression, affects cotreatment | 4 |
| bisphenol A | affects cotreatment, increases methylation, increases expression, affects expression | 3 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Benzo(a)pyrene | increases expression, increases methylation, affects methylation | 3 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | decreases expression, increases expression | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Silicon Dioxide | decreases expression | 2 |
| p-Chloromercuribenzoic Acid | increases expression, affects cotreatment | 2 |
| aristolochic acid I | decreases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| brequinar | decreases expression | 1 |
| 27-hydroxycholesterol | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dimethylarsinous acid | decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
Cellosaurus cell lines
4 cell lines: 2 cancer cell line, 1 spontaneously immortalized cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1TL | HAP1 CDH6 (-) 2 | Cancer cell line | Male |
| CVCL_E6PU | Genomeditech CHO-K1 H_CDH6 | Spontaneously immortalized cell line | Female |
| CVCL_E6TJ | Genomeditech HEK-293 H_CDH6 | Transformed cell line | Female |
| CVCL_XM68 | HAP1 CDH6 (-) 1 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): adult-onset myasthenia gravis, cocaine dependence, juvenile idiopathic arthritis, pulmonary emphysema