KAZN
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Also known as KIAA1026KAZRINFLJ43806
Summary
KAZN (kazrin, periplakin interacting protein, HGNC:29173) is a protein-coding gene on chromosome 1p36.21, encoding Kazrin (Q674X7). Component of the cornified envelope of keratinocytes.
This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified.
Source: NCBI Gene 23254 — RefSeq curated summary.
At a glance
- GWAS associations: 20
- Clinical variants (ClinVar): 137 total
- MANE Select transcript:
NM_201628
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29173 |
| Approved symbol | KAZN |
| Name | kazrin, periplakin interacting protein |
| Location | 1p36.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1026, KAZRIN, FLJ43806 |
| Ensembl gene | ENSG00000189337 |
| Ensembl biotype | protein_coding |
| OMIM | 618301 |
| Entrez | 23254 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 8 protein_coding, 1 retained_intron
ENST00000361144, ENST00000376028, ENST00000376030, ENST00000400797, ENST00000400798, ENST00000491547, ENST00000503743, ENST00000636203, ENST00000636564
RefSeq mRNA: 8 — MANE Select: NM_201628
NM_001017999, NM_001018000, NM_001018001, NM_001370229, NM_001370230, NM_001370231, NM_015209, NM_201628
CCDS: CCDS152, CCDS30604, CCDS41267, CCDS41268
Canonical transcript exons
ENST00000376030 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001547274 | 15114471 | 15118043 |
| ENSE00001651536 | 15060172 | 15060302 |
| ENSE00001666438 | 15094180 | 15094385 |
| ENSE00001679250 | 15065630 | 15065753 |
| ENSE00001720677 | 15094815 | 15094933 |
| ENSE00001727729 | 15063572 | 15063622 |
| ENSE00001766628 | 15101543 | 15101774 |
| ENSE00003028566 | 15112427 | 15112541 |
| ENSE00003153069 | 15103359 | 15103460 |
| ENSE00003182157 | 15104023 | 15104189 |
| ENSE00003462389 | 14960684 | 14960875 |
| ENSE00003536210 | 15034749 | 15034885 |
| ENSE00003586727 | 14598685 | 14599223 |
| ENSE00003627502 | 15056091 | 15056280 |
| ENSE00003693501 | 15043989 | 15044159 |
Expression profiles
Bgee: expression breadth ubiquitous, 277 present calls, max score 98.91.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.3103 / max 244.9347, expressed in 1440 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 807 | 7.7708 | 1394 |
| 788 | 2.8036 | 606 |
| 790 | 1.4655 | 448 |
| 777 | 0.6690 | 189 |
| 789 | 0.3248 | 195 |
| 778 | 0.1112 | 61 |
| 810 | 0.1059 | 47 |
| 779 | 0.0436 | 24 |
| 808 | 0.0159 | 6 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar vermis | UBERON:0004720 | 98.91 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 98.18 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.15 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 98.10 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 98.06 | gold quality |
| paraflocculus | UBERON:0005351 | 97.85 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 97.72 | gold quality |
| squamous epithelium | UBERON:0006914 | 97.50 | gold quality |
| renal medulla | UBERON:0000362 | 97.45 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 97.45 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 97.29 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 97.26 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 97.24 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.96 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 96.79 | gold quality |
| ventral tegmental area | UBERON:0002691 | 96.78 | gold quality |
| parietal lobe | UBERON:0001872 | 96.59 | gold quality |
| medulla oblongata | UBERON:0001896 | 96.58 | gold quality |
| postcentral gyrus | UBERON:0002581 | 96.45 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 96.32 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 96.32 | gold quality |
| cortical plate | UBERON:0005343 | 96.16 | gold quality |
| nipple | UBERON:0002030 | 96.08 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 96.05 | gold quality |
| spleen | UBERON:0002106 | 95.98 | gold quality |
| cerebellum | UBERON:0002037 | 95.94 | gold quality |
| caput epididymis | UBERON:0004358 | 95.90 | gold quality |
| inferior olivary complex | UBERON:0002127 | 95.89 | gold quality |
| mammalian vulva | UBERON:0000997 | 95.88 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 95.82 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 8366.34 |
| E-HCAD-25 | yes | 4036.26 |
| E-GEOD-180759 | yes | 3405.74 |
| E-HCAD-30 | yes | 3100.02 |
| E-CURD-119 | yes | 2341.87 |
| E-MTAB-10018 | yes | 237.88 |
| E-HCAD-5 | yes | 47.69 |
| E-ANND-3 | yes | 8.32 |
| E-GEOD-131882 | no | 2638.02 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
78 targeting KAZN, 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-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-9718 | 99.94 | 68.91 | 918 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
Literature-anchored findings (GeneRIF, showing 6)
- Kazrin colocalizes with periplakin and desmoplakin at desmosomes and with periplakin at the interdesmosomal plasma membrane, but its subcellular distribution is independent of periplakin [kazrin] (PMID:15337775)
- kazrin is a dual regulator of intercellular adhesion and differentiation in keratinocytes and regulates these processes by Rho-dependent and -independent mechanisms (PMID:18840647)
- These results suggested that Kazrin F might play an important role in regulating cellular apoptosis by interacting with ARC and Bax. (PMID:19727525)
- kazrinE is a kazrin isoform with a liprin-homology domain(LHD), and associates with stabilised microtubules via its LHD. Overexpressed kazrinE in epidermal keratinocytes induces changes in cell shape and stimulates terminal differentiation. (PMID:19843585)
- exons 5-15 of kazrin, encoding the nuclear localization signal and C-terminal domain, are not required for epidermal development and function (PMID:22513779)
- KAZN as a diagnostic marker in ovarian cancer: a comprehensive analysis based on microarray, mRNA-sequencing, and methylation data. (PMID:35710397)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kaznb | ENSDARG00000006601 |
| danio_rerio | kazna | ENSDARG00000076923 |
| mus_musculus | Kazn | ENSMUSG00000040606 |
| rattus_norvegicus | Kazn | ENSRNOG00000014322 |
| drosophila_melanogaster | Liprin-gamma | FBGN0034720 |
Protein
Protein identifiers
Kazrin — Q674X7 (reviewed: Q674X7)
All UniProt accessions (4): A0A1B0GTU0, A0A1B0GWK2, B0QYQ6, Q674X7
UniProt curated annotations — full annotation on UniProt →
Function. Component of the cornified envelope of keratinocytes. May be involved in the interplay between adherens junctions and desmosomes. The function in the nucleus is not known.
Subunit / interactions. Isoform 2, isoform 3 and isoform 4 interact with PPL N-terminus.
Subcellular location. Cytoplasm. Cytoskeleton Cytoplasm. Cell junction. Desmosome. Nucleus Cytoplasm. Nucleus.
Tissue specificity. Isoform 2, isoform 3 and isoform 4 are expressed in several cell lines including keratinocytes and bladder and epidermoid carcinoma (at protein level). Isoform 2, isoform 3 and isoform 4 are expressed in hair follicle and interfollicular epidermis (at protein level).
Similarity. Belongs to the kazrin family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q674X7-1 | 1 | yes |
| Q674X7-2 | 2, A | |
| Q674X7-3 | 3, B | |
| Q674X7-4 | 4, C, D | |
| Q674X7-5 | 5 |
RefSeq proteins (8): NP_001017999, NP_001018000, NP_001018001, NP_001357158, NP_001357159, NP_001357160, NP_056024, NP_963922* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001660 | SAM | Domain |
| IPR013761 | SAM/pointed_sf | Homologous_superfamily |
| IPR037613 | Kazrin_SAM_rpt_1 | Domain |
| IPR037614 | Kazrin | Family |
| IPR037615 | Kazrin_SAM_rpt_2 | Domain |
| IPR037616 | Kazrin_SAM_rpt_3 | Domain |
| IPR059089 | Kazrin_N | Domain |
Pfam: PF00536, PF07647, PF25986
UniProt features (25 total): splice variant 6, region of interest 5, domain 3, compositionally biased region 3, modified residue 3, sequence variant 2, chain 1, sequence conflict 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q674X7-F1 | 71.09 | 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 (3): 352, 367, 387
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-6809371 | Formation of the cornified envelope |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-6805567 | Keratinization |
MSigDB gene sets: 164 (showing top):
GOBP_EPITHELIUM_DEVELOPMENT, MOOTHA_GLYCOGEN_METABOLISM, MORF_MSH3, MORF_BRCA1, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, MORF_ATRX, MITSIADES_RESPONSE_TO_APLIDIN_DN, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, ZIC1_01, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_EPIDERMIS_DEVELOPMENT, MASSARWEH_RESPONSE_TO_ESTRADIOL, GOBP_KERATINIZATION, GOCC_CELL_CELL_JUNCTION
GO Biological Process (1): keratinization (GO:0031424)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (9): cornified envelope (GO:0001533), nucleoplasm (GO:0005654), cytosol (GO:0005829), cytoskeleton (GO:0005856), nuclear speck (GO:0016607), desmosome (GO:0030057), nucleus (GO:0005634), cytoplasm (GO:0005737), anchoring junction (GO:0070161)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Keratinization | 1 |
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| keratinocyte differentiation | 1 |
| multicellular organismal process | 1 |
| binding | 1 |
| plasma membrane | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| intracellular membraneless organelle | 1 |
| nuclear ribonucleoprotein granule | 1 |
| cell-cell junction | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
612 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KAZN | PPL | O60437 | 748 |
| KAZN | ARHGAP5 | Q13017 | 569 |
| KAZN | ZNF813 | Q6ZN06 | 477 |
| KAZN | FAM110D | Q8TAY7 | 444 |
| KAZN | ANKRD61 | A6NGH8 | 426 |
| KAZN | ELAVL1 | Q15717 | 426 |
| KAZN | EVPL | Q92817 | 423 |
| KAZN | ZDHHC14 | Q8IZN3 | 416 |
| KAZN | EIF4G1 | Q04637 | 410 |
| KAZN | ARVCF | O00192 | 400 |
| KAZN | SH3RF3 | Q8TEJ3 | 381 |
| KAZN | SMTNL2 | Q2TAL5 | 378 |
| KAZN | CHST11 | Q9NPF2 | 363 |
| KAZN | STAMBPL1 | Q96FJ0 | 354 |
| KAZN | RIMS2 | Q9UQ26 | 353 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LZTS2 | KAZN | psi-mi:“MI:0915”(physical association) | 0.560 |
| KAZN | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KAZN | FXR1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| KAZN | TSC1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| KAZN | PLEC | psi-mi:“MI:0915”(physical association) | 0.400 |
| KAZN | NS1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ECE1 | KAZN | psi-mi:“MI:0915”(physical association) | 0.370 |
| ARHGAP5 | KAZN | psi-mi:“MI:0914”(association) | 0.350 |
| KAZN | INPPL1 | psi-mi:“MI:0914”(association) | 0.350 |
| COIL | KAZN | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (52): LZTS2 (Two-hybrid), KAZN (Affinity Capture-RNA), KAZN (Affinity Capture-MS), PPL (Reconstituted Complex), KAZN (Affinity Capture-Western), KAZN (Affinity Capture-MS), KAZN (Two-hybrid), KAZN (Two-hybrid), KAZN (Two-hybrid), KAZN (Two-hybrid), KAZN (Two-hybrid), KAZN (Two-hybrid), KAZN (Two-hybrid), KAZN (Two-hybrid), KAZN (Two-hybrid)
ESM2 similar proteins: A0JNT9, A0JPP8, A1X157, O15169, O75145, O75335, P39880, P60469, Q07DZ5, Q08CF3, Q08E13, Q09YM8, Q2M1P5, Q2QLG9, Q2VUH7, Q32PN7, Q3TMW1, Q3UHC7, Q3UIL6, Q3UIW5, Q3UJV1, Q5DU25, Q5FWS6, Q5JU85, Q5PRF9, Q5XI59, Q5ZJ07, Q674X7, Q68UI8, Q69ZS8, Q6IPM2, Q6NZT2, Q6P402, Q6P730, Q6ZP65, Q80XS6, Q80Y83, Q8JZP9, Q8K1S6, Q8R4R9
Diamond homologs: A9C3W3, O35711, O75145, O75334, O75335, P60469, Q13136, Q21049, Q5FWS6, Q674X7, Q69ZS8, Q86W92, Q8BSS9, Q8C8U0, Q8ND30, Q91Z79, Q91Z80, Q94071
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
137 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 112 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
542 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:14599220:CAAGG:C | donor_loss | 0.9900 |
| 1:14599221:AAG:A | donor_loss | 0.9900 |
| 1:14599222:AGGT:A | donor_loss | 0.9900 |
| 1:14599223:GGT:G | donor_loss | 0.9900 |
| 1:14599224:GT:G | donor_loss | 0.9900 |
| 1:14599225:T:A | donor_loss | 0.9900 |
| 1:14623738:G:GG | donor_gain | 0.9700 |
| 1:14598845:G:GT | donor_gain | 0.9500 |
| 1:14598842:G:GT | donor_gain | 0.9200 |
| 1:14599286:G:GA | donor_gain | 0.8700 |
| 1:14599224:G:GG | donor_gain | 0.8600 |
| 1:14602015:A:G | acceptor_gain | 0.8600 |
| 1:14607556:GA:G | acceptor_gain | 0.8600 |
| 1:14599061:G:GT | donor_gain | 0.8500 |
| 1:14602028:A:G | acceptor_gain | 0.8500 |
| 1:14598864:C:G | donor_gain | 0.8300 |
| 1:14611363:TAGA:T | donor_gain | 0.8200 |
| 1:14611364:AGAA:A | donor_gain | 0.8200 |
| 1:14623737:T:G | donor_gain | 0.8200 |
| 1:14615266:A:T | donor_gain | 0.8000 |
| 1:14623741:T:A | donor_gain | 0.8000 |
| 1:14599219:GCAAG:G | donor_gain | 0.7900 |
| 1:14599281:G:GT | donor_gain | 0.7900 |
| 1:14599804:G:GT | donor_gain | 0.7900 |
| 1:14599285:T:TA | donor_gain | 0.7700 |
| 1:14601545:A:AA | donor_gain | 0.7700 |
| 1:14602027:A:AG | acceptor_gain | 0.7700 |
| 1:14608950:A:AG | acceptor_gain | 0.7500 |
| 1:14602014:A:AG | acceptor_gain | 0.7400 |
| 1:14601544:T:TA | acceptor_gain | 0.7200 |
AlphaMissense
5072 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:14599074:T:C | L26P | 1.000 |
| 1:14599086:T:C | L30P | 1.000 |
| 1:15034794:T:C | L155P | 1.000 |
| 1:15034815:T:C | L162P | 1.000 |
| 1:15034827:T:C | L166P | 1.000 |
| 1:15034848:T:A | L173H | 1.000 |
| 1:15034848:T:C | L173P | 1.000 |
| 1:15034851:G:C | R174P | 1.000 |
| 1:15034856:T:C | F176L | 1.000 |
| 1:15034857:T:C | F176S | 1.000 |
| 1:15034857:T:G | F176C | 1.000 |
| 1:15034858:C:A | F176L | 1.000 |
| 1:15034858:C:G | F176L | 1.000 |
| 1:15034860:T:A | I177N | 1.000 |
| 1:15034863:G:C | R178P | 1.000 |
| 1:15044140:T:C | L236P | 1.000 |
| 1:15044152:T:C | L240P | 1.000 |
| 1:15094293:T:A | W446R | 1.000 |
| 1:15094293:T:C | W446R | 1.000 |
| 1:15094309:T:A | V451D | 1.000 |
| 1:15094317:T:A | W454R | 1.000 |
| 1:15094317:T:C | W454R | 1.000 |
| 1:15094380:G:T | G475W | 1.000 |
| 1:15094381:G:A | G475E | 1.000 |
| 1:15094888:T:C | L501P | 1.000 |
| 1:15101589:T:A | W532R | 1.000 |
| 1:15101589:T:C | W532R | 1.000 |
| 1:15101650:G:A | G552E | 1.000 |
| 1:15101724:A:C | S577R | 1.000 |
| 1:15101726:C:A | S577R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000001536 (1:14879948 A>G), RS1000001765 (1:14498689 C>T), RS1000005974 (1:14666155 C>T), RS1000008911 (1:14660499 C>A), RS1000010694 (1:13977761 A>G), RS1000010960 (1:14580490 A>G), RS1000015440 (1:15015896 C>T), RS1000018167 (1:14158714 G>C), RS1000023592 (1:14165066 C>T), RS1000026351 (1:14826292 T>A,G), RS1000027198 (1:14286950 A>G), RS1000028915 (1:14737727 C>A,T), RS1000029872 (1:14985531 AAAAT>A), RS1000031524 (1:14110238 T>C), RS1000032441 (1:14320934 C>T)
Disease associations
OMIM: gene MIM:618301 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
20 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002927_10 | Mercury levels | 8.000000e-06 |
| GCST002938_23 | Copper levels | 3.000000e-06 |
| GCST003059_1 | Parkinson’s disease | 1.000000e-06 |
| GCST003074_1 | Cerebral amyloid deposition in APOEe4 non-carriers (PET imaging) | 2.000000e-07 |
| GCST003812_3 | Non-response to antidepressants and depression | 1.000000e-06 |
| GCST004720_10 | Conotruncal heart defects (inherited effects) | 7.000000e-06 |
| GCST006995_1 | Logical memory (delayed recall) in Alzheimer’s disease dementia | 5.000000e-07 |
| GCST007576_106 | Chronotype | 2.000000e-11 |
| GCST008152_61 | Weight | 2.000000e-06 |
| GCST008153_4 | Lean body mass | 5.000000e-06 |
| GCST008158_139 | Body mass index | 7.000000e-06 |
| GCST008179_8 | Moderate-to-late spontaneous preterm birth | 5.000000e-06 |
| GCST008792_1 | Urinary albumin-to-creatinine ratio in diabetes | 4.000000e-08 |
| GCST008922_3 | Triacylglyceride levels | 4.000000e-08 |
| GCST010570_1 | Polycystic ovary syndrome (reproductive subtype) | 2.000000e-10 |
| GCST011743_11 | HDL cholesterol levels in HIV infection | 1.000000e-05 |
| GCST012125_4 | Chronic pain | 9.000000e-07 |
| GCST012310_13 | Schizophrenia x sex interaction | 3.000000e-06 |
| GCST012311_21 | Schizophrenia x sex interaction | 3.000000e-06 |
| GCST012490_377 | Femur bone mineral density x serum urate levels interaction | 3.000000e-08 |
EFO canonical traits (12, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007707 | cerebral amyloid deposition measurement |
| EFO:0004874 | memory performance |
| EFO:0008328 | chronotype measurement |
| EFO:0004338 | body weight |
| EFO:0004995 | lean body mass |
| EFO:0004340 | body mass index |
| EFO:0006917 | spontaneous preterm birth |
| EFO:0007778 | urinary albumin to creatinine ratio |
| EFO:0004530 | triglyceride measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0008343 | sex interaction measurement |
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
56 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects binding, increases expression, affects cotreatment, decreases expression | 5 |
| bisphenol A | increases methylation, decreases expression, increases expression, affects cotreatment | 4 |
| sodium arsenite | increases expression, affects methylation, decreases expression | 4 |
| Valproic Acid | increases expression | 3 |
| Vehicle Emissions | increases expression, decreases expression, decreases reaction, increases abundance | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 2 |
| Aflatoxin B1 | affects methylation, increases methylation | 2 |
| Particulate Matter | decreases expression, decreases reaction, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| uranyl acetate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| benzo(e)pyrene | affects methylation | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine | decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| abrine | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression, decreases reaction | 1 |
| bisphenol S | decreases methylation | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 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): conotruncal heart malformations, mood disorder, polycystic ovary syndrome