CDH8
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Summary
CDH8 (cadherin 8, HGNC:1767) is a protein-coding gene on chromosome 16q21, encoding Cadherin-8 (P55286). Cadherins are calcium-dependent cell adhesion proteins.
This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein’s homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance.
Source: NCBI Gene 1006 — RefSeq curated summary.
At a glance
- GWAS associations: 21
- Clinical variants (ClinVar): 102 total
- MANE Select transcript:
NM_001796
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1767 |
| Approved symbol | CDH8 |
| Name | cadherin 8 |
| Location | 16q21 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000150394 |
| Ensembl biotype | protein_coding |
| OMIM | 603008 |
| Entrez | 1006 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 7 protein_coding, 5 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000299345, ENST00000577228, ENST00000577390, ENST00000577536, ENST00000577730, ENST00000580044, ENST00000582242, ENST00000582980, ENST00000583382, ENST00000583483, ENST00000584337, ENST00000584506, ENST00000584966, ENST00000585315, ENST00000958085
RefSeq mRNA: 2 — MANE Select: NM_001796
NM_001410893, NM_001796
CCDS: CCDS10802, CCDS92168
Canonical transcript exons
ENST00000577390 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000994716 | 61789346 | 61789482 |
| ENSE00000994721 | 61825012 | 61825179 |
| ENSE00000994722 | 61820926 | 61821113 |
| ENSE00000994725 | 61857119 | 61857238 |
| ENSE00001141385 | 61727094 | 61727215 |
| ENSE00001700676 | 61901179 | 61901473 |
| ENSE00002309910 | 62021152 | 62021602 |
| ENSE00003583145 | 61655470 | 61655721 |
| ENSE00003692898 | 61647250 | 61654101 |
| ENSE00003693196 | 61713841 | 61713958 |
| ENSE00003786257 | 61817479 | 61817732 |
| ENSE00003844246 | 62036080 | 62036438 |
Expression profiles
Bgee: expression breadth ubiquitous, 188 present calls, max score 93.78.
FANTOM5 (CAGE): breadth broad, TPM avg 3.2719 / max 152.8372, expressed in 488 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 157651 | 2.8806 | 464 |
| 157652 | 0.1243 | 62 |
| 157648 | 0.1221 | 60 |
| 157650 | 0.0807 | 43 |
| 157649 | 0.0642 | 33 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 93.78 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 89.41 | gold quality |
| prefrontal cortex | UBERON:0000451 | 85.55 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 84.36 | gold quality |
| entorhinal cortex | UBERON:0002728 | 83.67 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.63 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 83.01 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.46 | gold quality |
| frontal cortex | UBERON:0001870 | 81.67 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 81.53 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 80.68 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 80.60 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 80.25 | gold quality |
| neocortex | UBERON:0001950 | 80.08 | gold quality |
| ventricular zone | UBERON:0003053 | 80.03 | gold quality |
| cerebral cortex | UBERON:0000956 | 79.93 | gold quality |
| nucleus accumbens | UBERON:0001882 | 79.56 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 79.53 | gold quality |
| right frontal lobe | UBERON:0002810 | 79.11 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 78.96 | gold quality |
| telencephalon | UBERON:0001893 | 78.93 | gold quality |
| pons | UBERON:0000988 | 78.80 | gold quality |
| caudate nucleus | UBERON:0001873 | 78.75 | gold quality |
| Ammon’s horn | UBERON:0001954 | 78.22 | gold quality |
| primary visual cortex | UBERON:0002436 | 77.76 | gold quality |
| putamen | UBERON:0001874 | 77.66 | gold quality |
| ganglionic eminence | UBERON:0004023 | 77.58 | gold quality |
| corpus callosum | UBERON:0002336 | 77.55 | gold quality |
| temporal lobe | UBERON:0001871 | 77.28 | gold quality |
| substantia nigra | UBERON:0002038 | 77.11 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-25 | yes | 7.54 |
| E-ANND-3 | yes | 7.12 |
| E-GEOD-99795 | no | 14.94 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| IRF3 | Activation |
miRNA regulators (miRDB)
175 targeting CDH8, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
Literature-anchored findings (GeneRIF, showing 4)
- cadherin-8 may be involved in both kidney morphogenesis as well as tumorigenesis in some types of renal cell carcinoma (PMID:12209956)
- Rare familial 16q21 microdeletions and expression analysis implicate CDH8 in susceptibility to autism and learning disabilities. (PMID:20972252)
- cadherin 8, a type II neuronal cadherin, is expressed in cyst epithelia both in vivo and in vitro; data suggest that ectopic expression of cadherin 8 in renal epithelial cells is sufficient to cause the morphogenic pattern of cyst formation (PMID:21389276)
- Results show that promoter hypermethylation of ADCY8, CDH8, and ZNF582 are correlated with high-grade squamous intraepithelial lesion. (PMID:27651839)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Cdh8 | ENSMUSG00000036510 |
| rattus_norvegicus | Cdh8 | ENSRNOG00000056643 |
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), CDH6 (ENSG00000113361), CDH26 (ENSG00000124215), CDHR3 (ENSG00000128536), CDH15 (ENSG00000129910), CDH24 (ENSG00000139880), CDH11 (ENSG00000140937), CDH13 (ENSG00000140945), CDH18 (ENSG00000145526), CDHR1 (ENSG00000148600), CDH22 (ENSG00000149654), CDH12 (ENSG00000154162), PCDH1 (ENSG00000156453), DCHS1 (ENSG00000166341), PCDH7 (ENSG00000169851), CDH2 (ENSG00000170558), CDH4 (ENSG00000179242), CDH5 (ENSG00000179776), PCDH9 (ENSG00000184226), DCHS2 (ENSG00000197410), PCDH20 (ENSG00000280165)
Protein
Protein identifiers
Cadherin-8 — P55286 (reviewed: P55286)
All UniProt accessions (7): P55286, J3KRI5, J3KT81, J3KTG8, J3QKW5, J3QLE6, X6R3Y6
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. Mainly expressed in brain. Found in certain nerve cell lines, such as retinoblasts, glioma cells and neuroblasts.
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 (2): NP_001397822, NP_001787* (*=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 (20 total): glycosylation site 6, domain 5, sequence conflict 2, topological domain 2, signal peptide 1, propeptide 1, modified residue 1, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P55286-F1 | 77.26 | 0.46 |
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 (1): 795
Glycosylation sites (6): 33, 57, 188, 463, 473, 544
Function
Pathways and Gene Ontology
Reactome pathways
9 pathways
| ID | Pathway |
|---|---|
| R-HSA-418990 | Adherens junctions interactions |
| R-HSA-9833576 | CDH11 homotypic and heterotypic interactions |
| R-HSA-1500931 | Cell-Cell communication |
| R-HSA-421270 | Cell-cell junction organization |
| R-HSA-446728 | Cell junction organization |
| R-HSA-9759475 | Regulation of CDH11 Expression and Function |
| R-HSA-9759476 | Regulation of Homotypic Cell-Cell Adhesion |
| R-HSA-9762292 | Regulation of CDH11 function |
| R-HSA-9764260 | Regulation of Expression and Function of Type II Classical Cadherins |
MSigDB gene sets: 172 (showing top):
GOBP_RESPONSE_TO_COLD, SATO_SILENCED_BY_DEACETYLATION_IN_PANCREATIC_CANCER, MORF_RAD51L3, GOBP_CELL_CELL_SIGNALING, GOBP_CALCIUM_DEPENDENT_CELL_CELL_ADHESION, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, GOBP_CELL_CELL_ADHESION, GOBP_CELL_JUNCTION_ORGANIZATION, MORF_CTSB, MORF_IL4, OUELLET_CULTURED_OVARIAN_CANCER_INVASIVE_VS_LMP_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_SYNAPTIC_SIGNALING, SCHLOSSER_SERUM_RESPONSE_DN, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS
GO Biological Process (13): cell morphogenesis (GO:0000902), cell-cell junction assembly (GO:0007043), cell adhesion (GO:0007155), homophilic cell-cell adhesion (GO:0007156), response to cold (GO:0009409), calcium-dependent cell-cell adhesion (GO:0016339), cell migration (GO:0016477), adherens junction organization (GO:0034332), synaptic transmission, glutamatergic (GO:0035249), cell-cell adhesion mediated by cadherin (GO:0044331), regulation of synapse organization (GO:0050807), chemical synaptic transmission (GO:0007268), cell-cell adhesion (GO:0098609)
GO Molecular Function (5): calcium ion binding (GO:0005509), beta-catenin binding (GO:0008013), identical protein binding (GO:0042802), cadherin binding (GO:0045296), metal ion binding (GO:0046872)
GO Cellular Component (8): plasma membrane (GO:0005886), adherens junction (GO:0005912), catenin complex (GO:0016342), synaptic cleft (GO:0043083), axon terminus (GO:0043679), synaptic membrane (GO:0097060), glutamatergic synapse (GO:0098978), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-8 pathways:
| Category | Pathways |
|---|---|
| Cell-cell junction organization | 1 |
| Regulation of CDH11 function | 1 |
| Cell junction organization | 1 |
| Cell-Cell communication | 1 |
| Regulation of Expression and Function of Type II Classical Cadherins | 1 |
| Adherens junctions interactions | 1 |
| Regulation of CDH11 Expression and Function | 1 |
| Regulation of Homotypic Cell-Cell Adhesion | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell-cell adhesion | 3 |
| cell-cell junction organization | 2 |
| protein binding | 2 |
| cellular anatomical structure | 2 |
| synapse | 2 |
| anatomical structure morphogenesis | 1 |
| cell junction assembly | 1 |
| cellular process | 1 |
| response to stress | 1 |
| response to temperature stimulus | 1 |
| cell motility | 1 |
| chemical synaptic transmission | 1 |
| regulation of synapse structure or activity | 1 |
| synapse organization | 1 |
| regulation of cellular component organization | 1 |
| anterograde trans-synaptic signaling | 1 |
| cell adhesion | 1 |
| metal ion 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 |
| extracellular region | 1 |
| neuron projection terminus | 1 |
| presynapse | 1 |
| distal axon | 1 |
| plasma membrane region | 1 |
Protein interactions and networks
STRING
1520 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CDH8 | CTNNA2 | P26232 | 575 |
| CDH8 | SORCS3 | Q9UPU3 | 546 |
| CDH8 | CTNNB1 | P35222 | 535 |
| CDH8 | NTNG1 | Q9Y2I2 | 531 |
| CDH8 | CTNND1 | O60716 | 520 |
| CDH8 | CHD8 | Q9HCK8 | 493 |
| CDH8 | IGSF21 | Q96ID5 | 490 |
| CDH8 | CDH4 | P55283 | 490 |
| CDH8 | CDH13 | P55290 | 488 |
| CDH8 | DNMT3B | Q9UBC3 | 469 |
| CDH8 | CDH19 | Q9H159 | 461 |
| CDH8 | CDH20 | Q9HBT6 | 451 |
| CDH8 | CDH7 | Q9ULB5 | 450 |
| CDH8 | CNTNAP4 | Q9C0A0 | 448 |
| CDH8 | PKDCC | Q504Y2 | 438 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDH8 | ARVCF | psi-mi:“MI:0914”(association) | 0.530 |
| CDH8 | ARVCF | psi-mi:“MI:0914”(association) | 0.350 |
| CDH12 | ARVCF | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (37): PKP4 (Affinity Capture-MS), ARVCF (Affinity Capture-MS), NYNRIN (Affinity Capture-MS), CTNNA2 (Affinity Capture-MS), CTNNB1 (Affinity Capture-MS), CTNNA1 (Affinity Capture-MS), CTNND1 (Affinity Capture-MS), TMTC4 (Affinity Capture-MS), BCAM (Affinity Capture-MS), TYK2 (Affinity Capture-MS), PLD2 (Affinity Capture-MS), HADHB (Affinity Capture-MS), JUP (Affinity Capture-MS), PTCD2 (Affinity Capture-MS), EXOG (Affinity Capture-MS)
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
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| calcium(2+) | “up-regulates activity” | CDH8 | “chemical activation” |
| CDH8 | “up-regulates activity” | CTNNB1 | binding |
| CDH8 | “up-regulates quantity” | IRF3 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
102 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 82 |
| Likely benign | 9 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3944 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:61654097:GATGA:G | acceptor_gain | 1.0000 |
| 16:61654098:ATGA:A | acceptor_gain | 1.0000 |
| 16:61654098:ATGAC:A | acceptor_loss | 1.0000 |
| 16:61654099:TGA:T | acceptor_gain | 1.0000 |
| 16:61654100:GA:G | acceptor_gain | 1.0000 |
| 16:61654100:GACTA:G | acceptor_loss | 1.0000 |
| 16:61654101:AC:A | acceptor_loss | 1.0000 |
| 16:61654102:C:CC | acceptor_gain | 1.0000 |
| 16:61654102:CTAGA:C | acceptor_loss | 1.0000 |
| 16:61654103:T:G | acceptor_loss | 1.0000 |
| 16:61655718:TTAT:T | acceptor_gain | 1.0000 |
| 16:61655719:TAT:T | acceptor_gain | 1.0000 |
| 16:61713836:TTTA:T | donor_loss | 1.0000 |
| 16:61713837:TTAC:T | donor_loss | 1.0000 |
| 16:61713838:TAC:T | donor_loss | 1.0000 |
| 16:61713840:C:A | donor_loss | 1.0000 |
| 16:61713955:TGACC:T | acceptor_loss | 1.0000 |
| 16:61713956:GACC:G | acceptor_loss | 1.0000 |
| 16:61713957:ACC:A | acceptor_loss | 1.0000 |
| 16:61713958:CCT:C | acceptor_loss | 1.0000 |
| 16:61713959:CTGA:C | acceptor_loss | 1.0000 |
| 16:61727092:A:AC | donor_gain | 1.0000 |
| 16:61727093:C:CC | donor_gain | 1.0000 |
| 16:61727214:CC:C | acceptor_gain | 1.0000 |
| 16:61727215:CC:C | acceptor_gain | 1.0000 |
| 16:61727216:C:CC | acceptor_gain | 1.0000 |
| 16:61789344:A:AC | donor_gain | 1.0000 |
| 16:61789345:C:CT | donor_gain | 1.0000 |
| 16:61789345:CT:C | donor_gain | 1.0000 |
| 16:61789345:CTA:C | donor_gain | 1.0000 |
AlphaMissense
5287 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:61653968:A:C | F680L | 1.000 |
| 16:61653968:A:T | F680L | 1.000 |
| 16:61653970:A:G | F680L | 1.000 |
| 16:61655488:A:G | C630R | 1.000 |
| 16:61727149:G:T | P494H | 1.000 |
| 16:61727185:A:T | V482D | 1.000 |
| 16:61789357:G:T | A468D | 1.000 |
| 16:61789444:A:G | F439S | 1.000 |
| 16:61817623:A:T | V378D | 1.000 |
| 16:61825104:T:A | D248V | 1.000 |
| 16:61825104:T:G | D248A | 1.000 |
| 16:61825105:C:G | D248H | 1.000 |
| 16:61825110:G:T | A246D | 1.000 |
| 16:61825111:C:G | A246P | 1.000 |
| 16:61825113:T:G | Q245P | 1.000 |
| 16:61825116:A:T | I244N | 1.000 |
| 16:61857139:A:C | F216C | 1.000 |
| 16:61857139:A:G | F216S | 1.000 |
| 16:61857167:A:C | Y207D | 1.000 |
| 16:61857202:T:A | D195V | 1.000 |
| 16:61857202:T:C | D195G | 1.000 |
| 16:61857202:T:G | D195A | 1.000 |
| 16:61857203:C:G | D195H | 1.000 |
| 16:61857208:T:C | D193G | 1.000 |
| 16:61857208:T:G | D193A | 1.000 |
| 16:61857209:C:G | D193H | 1.000 |
| 16:61857214:G:T | A191E | 1.000 |
| 16:61857229:A:T | V186D | 1.000 |
| 16:61901225:A:C | F167L | 1.000 |
| 16:61901225:A:T | F167L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000011171 (16:61832758 A>C), RS1000013916 (16:61959071 C>A), RS1000015469 (16:61981799 T>A), RS1000016048 (16:61653765 C>T), RS1000022371 (16:61680983 A>G), RS1000033657 (16:61681298 T>A), RS1000041639 (16:61823094 A>G,T), RS1000050269 (16:61734863 G>A), RS1000058673 (16:61874716 T>C), RS1000059041 (16:61965623 T>C), RS1000060739 (16:61721205 A>C,T), RS1000061003 (16:61762244 A>G), RS1000077157 (16:62023284 A>T), RS1000077982 (16:61959291 A>G), RS1000089010 (16:61727498 T>C)
Disease associations
OMIM: gene MIM:603008 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
21 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001077_6 | Cystic fibrosis severity | 7.000000e-06 |
| GCST001414_19 | Phospholipid levels (plasma) | 3.000000e-08 |
| GCST001734_11 | Non-small cell lung cancer | 8.000000e-06 |
| GCST003070_5 | Cerebrospinal T-tau levels | 8.000000e-07 |
| GCST003813_3 | Response to antidepressants and depression | 1.000000e-06 |
| GCST004747_13 | Lung cancer in never smokers | 9.000000e-06 |
| GCST006269_1121 | General cognitive ability | 5.000000e-10 |
| GCST006616_6 | Uterine fibroid number (single vs multiple) | 1.000000e-06 |
| GCST007324_100 | Adventurousness | 8.000000e-09 |
| GCST007324_65 | Adventurousness | 7.000000e-15 |
| GCST007325_162 | General risk tolerance (MTAG) | 2.000000e-11 |
| GCST007329_6 | Automobile speeding propensity | 6.000000e-10 |
| GCST008394_8 | Mild to moderate chronic kidney disease | 1.000000e-07 |
| GCST008522_74 | Bitter alcoholic beverage consumption | 4.000000e-06 |
| GCST008969_2 | White coat effect (clinic diastolic blood pressure minus ambulatory diastolic blood pressure) | 4.000000e-06 |
| GCST010396_304 | Gut microbiota (bacterial taxa, hurdle binary method) | 5.000000e-06 |
| GCST011124_9 | Caffeine consumption from tea | 1.000000e-08 |
| GCST011348_41 | High density lipoprotein cholesterol levels | 6.000000e-16 |
| GCST011374_1 | Rotator cuff injury | 2.000000e-08 |
| GCST012277_6 | Clostridioides difficle infection | 9.000000e-07 |
| GCST90011899_26 | Aspartate aminotransferase levels | 9.000000e-41 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004760 | t-tau measurement |
| EFO:0004337 | intelligence |
| EFO:0009410 | uterine fibroid measurement |
| EFO:0008579 | risk-taking behaviour |
| EFO:0010092 | bitter alcoholic beverage consumption measurement |
| EFO:0006945 | diastolic blood pressure change measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0010091 | tea consumption measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0009130 | clostridium difficile infection |
| 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
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, increases expression | 6 |
| trichostatin A | affects cotreatment, decreases expression | 4 |
| methylmercuric chloride | decreases expression, increases expression | 3 |
| bisphenol A | affects expression, affects cotreatment, decreases methylation, increases methylation | 2 |
| arsenite | affects binding, decreases reaction, increases methylation | 2 |
| sodium arsenite | increases abundance, decreases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation | 2 |
| Doxorubicin | affects expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| terbufos | increases methylation | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| nickel sulfate | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression, affects response to substance | 1 |
| CGP 52608 | affects binding, increases reaction | 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 |
| clothianidin | decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression, increases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Arsenic | increases abundance, decreases expression | 1 |
| Diazinon | increases methylation | 1 |
| Dinitrochlorobenzene | decreases expression | 1 |
| Chlorpyrifos | affects reaction, increases expression | 1 |
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): chronic kidney disease, cystic fibrosis, mood disorder, non-small cell lung carcinoma, rotator cuff syndrome