CRISP3
gene geneOn this page
Also known as SGP28CRISP-3CRS3dJ442L6.3Aeg2
Summary
CRISP3 (cysteine rich secretory protein 3, HGNC:16904) is a protein-coding gene on chromosome 6p12.3, encoding Cysteine-rich secretory protein 3 (P54108).
This gene encodes a member of the cysteine-rich secretory protein (CRISP) family within the CRISP, antigen 5 and pathogenesis-related 1 proteins superfamily. The encoded protein has an N-terminal CRISP, antigen 5 and pathogenesis-related 1 proteins domain, a hinge region, and a C-terminal ion channel regulator domain. This protein contains cysteine residues, located in both the N- and C-terminal domains, that form eight disulfide bonds, a distinguishing characteristic of this family. This gene is expressed in the male reproductive tract where it plays a role in sperm function and fertilization, and the female reproductive tract where it plays a role in endometrial receptivity for embryo implantation. This gene is upregulated in certain types of prostate cancer. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 10321 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 43 total
- MANE Select transcript:
NM_006061
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16904 |
| Approved symbol | CRISP3 |
| Name | cysteine rich secretory protein 3 |
| Location | 6p12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2 |
| Ensembl gene | ENSG00000096006 |
| Ensembl biotype | protein_coding |
| OMIM | 618062 |
| Entrez | 10321 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000263045, ENST00000354620, ENST00000371159, ENST00000433368
RefSeq mRNA: 3 — MANE Select: NM_006061
NM_001190986, NM_001368123, NM_006061
CCDS: CCDS4929, CCDS55019, CCDS93932
Canonical transcript exons
ENST00000263045 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000850440 | 49727376 | 49728857 |
| ENSE00001138750 | 49731163 | 49731251 |
| ENSE00001138761 | 49733195 | 49733292 |
| ENSE00002219370 | 49744331 | 49744388 |
| ENSE00002311210 | 49737325 | 49737398 |
| ENSE00002486518 | 49736391 | 49736507 |
| ENSE00002488442 | 49733703 | 49733848 |
| ENSE00003648010 | 49735504 | 49735591 |
Expression profiles
Bgee: expression breadth ubiquitous, 185 present calls, max score 99.67.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 10.0421 / max 4077.1644, expressed in 152 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 73923 | 8.6927 | 115 |
| 73922 | 0.8319 | 45 |
| 73924 | 0.3006 | 42 |
| 73925 | 0.1617 | 29 |
| 73926 | 0.0552 | 15 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 99.67 | gold quality |
| right uterine tube | UBERON:0001302 | 99.54 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.94 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.83 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 98.57 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 98.43 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 98.28 | gold quality |
| bone marrow | UBERON:0002371 | 98.04 | gold quality |
| minor salivary gland | UBERON:0001830 | 97.83 | gold quality |
| seminal vesicle | UBERON:0000998 | 97.63 | gold quality |
| oral cavity | UBERON:0000167 | 97.54 | gold quality |
| bone marrow cell | CL:0002092 | 97.43 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 96.35 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 96.28 | gold quality |
| buccal mucosa cell | CL:0002336 | 96.15 | gold quality |
| mouth mucosa | UBERON:0003729 | 96.04 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 95.68 | gold quality |
| oviduct epithelium | UBERON:0004804 | 95.07 | gold quality |
| bone element | UBERON:0001474 | 94.80 | gold quality |
| trachea | UBERON:0003126 | 93.36 | gold quality |
| cervix epithelium | UBERON:0004801 | 93.27 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 92.85 | gold quality |
| body of tongue | UBERON:0011876 | 92.78 | gold quality |
| urethra | UBERON:0000057 | 92.44 | gold quality |
| amniotic fluid | UBERON:0000173 | 92.22 | gold quality |
| upper leg skin | UBERON:0004262 | 91.89 | gold quality |
| esophagus mucosa | UBERON:0002469 | 91.20 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 90.91 | gold quality |
| fallopian tube | UBERON:0003889 | 90.44 | gold quality |
| tongue | UBERON:0001723 | 90.03 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9801 | yes | 6220.75 |
| E-HCAD-1 | yes | 11.54 |
| E-ANND-3 | yes | 10.31 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AR, ERG, HOXC13, POU2F1, POU2F2
miRNA regulators (miRDB)
54 targeting CRISP3, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| 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-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
| HSA-MIR-508-5P | 99.41 | 64.25 | 1248 |
| HSA-MIR-4284 | 99.36 | 65.25 | 1293 |
| HSA-MIR-3606-5P | 99.31 | 69.67 | 1168 |
| HSA-MIR-3614-5P | 99.30 | 65.25 | 837 |
| HSA-MIR-3160-5P | 99.28 | 69.07 | 1938 |
| HSA-MIR-520E-5P | 99.27 | 68.90 | 1513 |
Literature-anchored findings (GeneRIF, showing 26)
- The presence of CRISP-3 in peroxidase-negative granules of neutrophils, in granules of eosinophils, and in exocrine secretions indicates a role in the innate host defense. (PMID:12223513)
- in situ hybridization experiments indicated that CRISP-3 mRNA is epithelial-specific and is up-regulated in prostate adenocarcinoma compared with benign prostate tissue; a potential biomarker for prostate cancer (PMID:12433721)
- high levels of CRISP-3 in acinar cells dedifferentiating into small proliferating ductal cells in chronic pancreatitis suggests a role of this molecule in the pathophysiology of chronic pancreatitis (PMID:12647793)
- alpha-1-B glycoprotein-CRISP-3 complex displays a similar function in protecting the circulation from a potentially harmful effect of free CRISP-3 (PMID:15461460)
- Human CRISP-3 is a quantitatively minor seminal plasma protein not associated with prostasomes. CRISP-3 was found in secretory epithelium throughout the male genital tract, with particularly high expression in cauda epididymis and ampulla vas deferens. (PMID:15867000)
- Structural similarity with an MSP-binding protein from blood plasma suggests that CRISP-3 binds MSP through its aminoterminal SCP-domain. (PMID:15950934)
- Strong immunostaining for CRISP-3 is common in high-grade prostatic-intraepithelial-neoplasia and preserved in prostatic csncer. (PMID:16388501)
- Predictor of recurrence after radical prostatectomy for localized prostate cancer. (PMID:17634540)
- CRISP-3 pathology occurred in acini remote from lymphocyte foci and may represent some systemic effect in Sjogren Syndrome. (PMID:17665393)
- A tentative structure for the hMSP-CRISP-3 complex using the known crystal structure of triflin as a model of CRISP-3 was presented. (PMID:19026612)
- Results suggest that absence of a local reduction in expression of CRISP-3 in decidualized endometrium of women with EP may be due to reduced exposure to hCG due to the ectopic location of the trophoblast. (PMID:19282327)
- Complex binding of CRISP proteins by A1BG and other proteins may interfere with the detection and function of these proteins. (PMID:20116414)
- Additional transcription changes likely associated with Th2-like eosinophilic inflammation were prominent and included decreased CRISP2&3. (PMID:20625511)
- Either PSP94 or CRISP-3 alone can induce growth inhibition in prostate cancer cells in a cell line specific manner. (PMID:20676114)
- Expression levels of AR and CRISP3 were not affected by short-term ADT but were high in castration-resistant prostate cancer (CRPC) and metastases. (PMID:20680031)
- We found no correlation between CRISP3 expression and biochemical recurrence. (PMID:21240253)
- up-regulation of CRISP3 is associated with prostate carcinomas with the TMPRSS2-ERG fusion gene. (PMID:21814574)
- MSMB and CRISP3 were widely distributed in ovaries and in ovarian tumors; the expression of MSMB fits well with a tumor-suppressor function in ovarian carcinogenesis. (PMID:22993349)
- Strong CRISP3 expression is associated with unfavorable tumor phenotype and early recurrence in prostate cancers (PMID:23196798)
- terminal beta-strands of PSP94 contact the first alpha-helix and the hinge region of CRISP-3 (PMID:23375721)
- up-regulation of the mRNA encoding cysteine-rich secretory protein 3 (CRISP3), a glycoprotein with unknown function that is secreted from multiple exocrine glands, was correlated with HCV resistance. (PMID:24978310)
- These data suggest roles for epithelial and neutrophil-derived CRISP3 in postmenstrual endometrial repair and regeneration (PMID:25715794)
- results suggest that overexpression of CRISP-3 in prostate tumor may maintain higher PSA expression and lower ANXA1 expression (PMID:26369530)
- in the presence of varicocoele, there is a marked increase in seminal CRISP-3 levels. Surgical intervention (varicocelectomy) decreases CRISP-3 levels and improves semen quality. (PMID:30354034)
- In this study, we found obvious differences in the expression of CRISP3 between different mammary carcinoma cells, which is related to the prognosis of patients with mammary carcinoma (PMID:30609035)
- EP300 promotes tumor stemness via epigenetic activation of CRISP3 leading to lobaplatin resistance in triple-negative breast cancer. (PMID:38879857)
Cross-species orthologs
47 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Crisp1 | ENSMUSG00000025431 |
| mus_musculus | Crisp3 | ENSMUSG00000025433 |
| rattus_norvegicus | Crisp3 | ENSRNOG00000013496 |
| drosophila_melanogaster | Ag5r | FBGN0015010 |
| drosophila_melanogaster | Ag5r2 | FBGN0020508 |
| drosophila_melanogaster | CG9400 | FBGN0030562 |
| drosophila_melanogaster | CG10651 | FBGN0032853 |
| drosophila_melanogaster | CG9822 | FBGN0034623 |
| drosophila_melanogaster | CG17974 | FBGN0034624 |
| drosophila_melanogaster | CG3640 | FBGN0035042 |
| drosophila_melanogaster | CG8072 | FBGN0036070 |
| drosophila_melanogaster | CG6628 | FBGN0036072 |
| drosophila_melanogaster | scpr-C | FBGN0037879 |
| drosophila_melanogaster | scpr-B | FBGN0037888 |
| drosophila_melanogaster | scpr-A | FBGN0037889 |
| drosophila_melanogaster | CG8483 | FBGN0038126 |
| drosophila_melanogaster | CG30486 | FBGN0050486 |
| drosophila_melanogaster | antr | FBGN0050488 |
| drosophila_melanogaster | CG31286 | FBGN0051286 |
| drosophila_melanogaster | CG32313 | FBGN0052313 |
| drosophila_melanogaster | CG32679 | FBGN0052679 |
| drosophila_melanogaster | CG34002 | FBGN0054002 |
| drosophila_melanogaster | CG17575 | FBGN0250842 |
| drosophila_melanogaster | CG42564 | FBGN0260766 |
| drosophila_melanogaster | CG42780 | FBGN0261848 |
| drosophila_melanogaster | CG43775 | FBGN0264297 |
| drosophila_melanogaster | CG43776 | FBGN0264298 |
| drosophila_melanogaster | CG43777 | FBGN0264299 |
| caenorhabditis_elegans | WBGENE00004742 | |
| caenorhabditis_elegans | WBGENE00007397 | |
| caenorhabditis_elegans | WBGENE00008027 | |
| caenorhabditis_elegans | WBGENE00008028 | |
| caenorhabditis_elegans | WBGENE00008029 | |
| caenorhabditis_elegans | WBGENE00008030 | |
| caenorhabditis_elegans | WBGENE00008625 | |
| caenorhabditis_elegans | WBGENE00009891 | |
| caenorhabditis_elegans | WBGENE00009895 | |
| caenorhabditis_elegans | WBGENE00009896 | |
| caenorhabditis_elegans | WBGENE00012816 | |
| caenorhabditis_elegans | WBGENE00013971 | |
| caenorhabditis_elegans | WBGENE00013972 | |
| caenorhabditis_elegans | WBGENE00015246 | |
| caenorhabditis_elegans | WBGENE00017055 | |
| caenorhabditis_elegans | WBGENE00017183 | |
| caenorhabditis_elegans | WBGENE00019178 | |
| caenorhabditis_elegans | WBGENE00019179 | |
| caenorhabditis_elegans | WBGENE00021780 |
Paralogs (13): R3HDML (ENSG00000101074), CRISPLD2 (ENSG00000103196), CRISPLD1 (ENSG00000121005), GLIPR2 (ENSG00000122694), CRISP2 (ENSG00000124490), CRISP1 (ENSG00000124812), PI15 (ENSG00000137558), GLIPR1 (ENSG00000139278), CLEC18B (ENSG00000140839), CLEC18A (ENSG00000157322), CLEC18C (ENSG00000157335), GLIPR1L1 (ENSG00000173401), GLIPR1L2 (ENSG00000180481)
Protein
Protein identifiers
Cysteine-rich secretory protein 3 — P54108 (reviewed: P54108)
Alternative names: Specific granule protein of 28 kDa
All UniProt accessions (3): P54108, I3L0A1, J3KPA1
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Interacts with A1BG.
Subcellular location. Secreted.
Tissue specificity. Salivary gland, pancreas and prostate > epididymis, ovary, thymus and colon.
Similarity. Belongs to the CRISP family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P54108-1 | 1 | yes |
| P54108-2 | 2 | |
| P54108-3 | 3 |
RefSeq proteins (3): NP_001177915, NP_001355052, NP_006052* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001283 | CRISP-related | Family |
| IPR003582 | ShKT_dom | Domain |
| IPR013871 | Cysteine_rich_secretory | Domain |
| IPR014044 | CAP_dom | Domain |
| IPR018244 | Allrgn_V5/Tpx1_CS | Conserved_site |
| IPR034117 | SCP_CRISP | Domain |
| IPR035940 | CAP_sf | Homologous_superfamily |
| IPR042076 | Crisp-like_dom | Homologous_superfamily |
Pfam: PF00188, PF08562
UniProt features (16 total): disulfide bond 5, splice variant 2, sequence variant 2, sequence conflict 2, domain 2, signal peptide 1, chain 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P54108-F1 | 92.65 | 0.89 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (5): 191–198, 194–203, 207–240, 216–234, 225–238
Glycosylation sites (1): 239
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
MSigDB gene sets: 116 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, GOZGIT_ESR1_TARGETS_DN, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, chr6p12, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, HANSON_HRAS_SIGNALING_VIA_NFKB, BRUNO_HEMATOPOIESIS, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_16D_DN, GOCC_SECRETORY_VESICLE, GOCC_VESICLE_LUMEN, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_8D_UP
GO Biological Process (2): defense response (GO:0006952), innate immune response (GO:0045087)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (7): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), extracellular matrix (GO:0031012), specific granule lumen (GO:0035580), specific granule (GO:0042581), tertiary granule lumen (GO:1904724), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| response to stress | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| binding | 1 |
| external encapsulating structure | 1 |
| secretory granule lumen | 1 |
| specific granule | 1 |
| secretory granule | 1 |
| intracellular organelle lumen | 1 |
| tertiary granule | 1 |
Protein interactions and networks
STRING
1088 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CRISP3 | A1BG | P04217 | 920 |
| CRISP3 | MTDH | Q86UE4 | 758 |
| CRISP3 | MSMB | P08118 | 720 |
| CRISP3 | IL4I1 | Q96RQ9 | 621 |
| CRISP3 | PLB1 | Q6P1J6 | 619 |
| CRISP3 | LTA4H | P09960 | 548 |
| CRISP3 | LCN2 | P30150 | 527 |
| CRISP3 | PLA2G2A | P14555 | 507 |
| CRISP3 | ACHE | P22303 | 504 |
| CRISP3 | PGLYRP1 | O75594 | 478 |
| CRISP3 | BPIFB1 | Q8TDL5 | 466 |
| CRISP3 | OLFM4 | Q6UX06 | 465 |
| CRISP3 | CEBPB | P17676 | 455 |
| CRISP3 | FGFBP1 | Q14512 | 442 |
| CRISP3 | QPCT | Q16769 | 424 |
| CRISP3 | NPPC | P23582 | 424 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CRISP3 | ADD2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (14): A1BG (Affinity Capture-MS), CRISP3 (Affinity Capture-MS), GPR152 (Two-hybrid), ADD2 (Affinity Capture-MS), ADD3 (Affinity Capture-MS), SLC2A8 (Affinity Capture-MS), HSPA1A (Affinity Capture-MS), CRISP3 (Phenotypic Suppression), CRISP3 (Phenotypic Suppression), CRISP3 (Phenotypic Suppression), CRISP3 (Phenotypic Suppression), MSMB (Reconstituted Complex), CRISP3 (Affinity Capture-MS), CRISP3 (Affinity Capture-MS)
ESM2 similar proteins: A0A0D3QS98, A0A0D3QS99, A2A5I3, O19010, O19011, O42596, P01137, P04202, P04629, P07200, P09533, P16562, P17246, P18341, P35739, P50414, P54108, P54831, P57110, Q01974, Q38HS2, Q3KPV7, Q3UFB7, Q505J3, Q5R7Y0, Q5T4F7, Q60477, Q658N2, Q6UWX4, Q7T141, Q7TSQ1, Q80XH4, Q8BG58, Q91009, Q99JR5, Q9CXM0, Q9D2G9, Q9EQT5, Q9GZM7, Q9H3Y0
Diamond homologs: A0A182GL09, A0A1S4EWW7, A0A218QX58, A1BQQ5, A6MFK9, A6QLZ7, A8S6B6, A9QQ26, A9YME1, B2MVK7, B9URJ1, C0ITL3, D4B327, D4P2Y4, F8J2D4, G3CJR9, O19010, O43692, P0CB15, P0DMB9, P0DMT4, P0DPU0, P0DPU1, P0DPU2, P0DPU5, P0DPV2, P0DSI3, P10736, P10737, P12020, P16562, P16563, P35759, P35760, P35778, P35779, P35780, P35781, P35782, P35783
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 36 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1005 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:49731249:CCA:C | acceptor_gain | 1.0000 |
| 6:49731250:CAC:C | acceptor_gain | 1.0000 |
| 6:49731252:C:CC | acceptor_gain | 1.0000 |
| 6:49733850:T:A | acceptor_loss | 1.0000 |
| 6:49735499:CATA:C | donor_gain | 1.0000 |
| 6:49735500:ATAC:A | donor_loss | 1.0000 |
| 6:49735501:TACT:T | donor_loss | 1.0000 |
| 6:49735502:A:AC | donor_gain | 1.0000 |
| 6:49735503:C:CG | donor_gain | 1.0000 |
| 6:49735503:CTTGT:C | donor_gain | 1.0000 |
| 6:49735587:CATTC:C | acceptor_gain | 1.0000 |
| 6:49735589:TTC:T | acceptor_gain | 1.0000 |
| 6:49735590:TC:T | acceptor_gain | 1.0000 |
| 6:49735591:CC:C | acceptor_gain | 1.0000 |
| 6:49735592:C:CA | acceptor_loss | 1.0000 |
| 6:49735592:C:CC | acceptor_gain | 1.0000 |
| 6:49735593:T:A | acceptor_loss | 1.0000 |
| 6:49736390:CCAT:C | donor_gain | 1.0000 |
| 6:49731161:A:AC | donor_gain | 0.9900 |
| 6:49731162:C:CC | donor_gain | 0.9900 |
| 6:49731162:CTG:C | donor_gain | 0.9900 |
| 6:49731250:CA:C | acceptor_gain | 0.9900 |
| 6:49731259:T:C | acceptor_gain | 0.9900 |
| 6:49731259:T:TC | acceptor_gain | 0.9900 |
| 6:49731923:ATCT:A | donor_gain | 0.9900 |
| 6:49731924:T:C | donor_gain | 0.9900 |
| 6:49733187:ATAC:A | donor_loss | 0.9900 |
| 6:49733188:TACT:T | donor_loss | 0.9900 |
| 6:49733189:ACTT:A | donor_loss | 0.9900 |
| 6:49733190:C:CT | donor_loss | 0.9900 |
AlphaMissense
1703 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000128570 (6:49730240 A>G), RS1000204340 (6:49739207 A>C), RS1001513815 (6:49741623 T>G), RS1001599520 (6:49743055 T>A), RS1001632082 (6:49742737 G>C), RS1001680230 (6:49730270 C>G), RS1001752562 (6:49742844 G>A), RS1001934764 (6:49741581 A>G), RS1001965925 (6:49741249 C>G,T), RS1001979761 (6:49729131 A>G), RS1002144627 (6:49732974 T>C), RS1002146143 (6:49734949 A>G), RS1002194294 (6:49736327 T>A), RS1002498564 (6:49735302 G>A), RS1002815802 (6:49746051 A>G)
Disease associations
OMIM: gene MIM:618062 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases methylation, increases mutagenesis | 2 |
| Nickel | decreases expression | 2 |
| sodium arsenite | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| rofecoxib | increases expression | 1 |
| enzalutamide | decreases expression | 1 |
| Arsenicals | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Lipopolysaccharides | increases expression | 1 |
| Malathion | decreases expression | 1 |
| N-Nitrosopyrrolidine | increases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression, affects cotreatment | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.