CRISP2
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Also known as CRISP-2CT36
Summary
CRISP2 (cysteine rich secretory protein 2, HGNC:12024) is a protein-coding gene on chromosome 6p12.3, encoding Cysteine-rich secretory protein 2 (P16562). May regulate some ion channels’ activity and thereby regulate calcium fluxes during sperm capacitation.
Predicted to be involved in sexual reproduction. Predicted to be located in extracellular region. Predicted to be active in extracellular space.
Source: NCBI Gene 7180 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 39 total
- MANE Select transcript:
NM_003296
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12024 |
| Approved symbol | CRISP2 |
| Name | cysteine rich secretory protein 2 |
| Location | 6p12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CRISP-2, CT36 |
| Ensembl gene | ENSG00000124490 |
| Ensembl biotype | protein_coding |
| OMIM | 187430 |
| Entrez | 7180 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 8 protein_coding
ENST00000339139, ENST00000616725, ENST00000618917, ENST00000856936, ENST00000856937, ENST00000856938, ENST00000856939, ENST00000856940
RefSeq mRNA: 6 — MANE Select: NM_003296
NM_001142407, NM_001142408, NM_001142417, NM_001142435, NM_001261822, NM_003296
CCDS: CCDS4928
Canonical transcript exons
ENST00000339139 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001138788 | 49695836 | 49695924 |
| ENSE00001138795 | 49697860 | 49697957 |
| ENSE00001138811 | 49699804 | 49699891 |
| ENSE00001368027 | 49713475 | 49713543 |
| ENSE00001375729 | 49692359 | 49692900 |
| ENSE00001378296 | 49712501 | 49712604 |
| ENSE00001381380 | 49711285 | 49711321 |
| ENSE00001383687 | 49709131 | 49709205 |
| ENSE00002444967 | 49698362 | 49698507 |
| ENSE00002472351 | 49700668 | 49700784 |
Expression profiles
Bgee: expression breadth ubiquitous, 163 present calls, max score 99.99.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.9553 / max 714.0675, expressed in 39 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 73917 | 0.7336 | 29 |
| 73918 | 0.2217 | 19 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 99.99 | gold quality |
| male germ cell | CL:0000015 | 99.76 | gold quality |
| adult organism | UBERON:0007023 | 99.25 | gold quality |
| left testis | UBERON:0004533 | 99.05 | gold quality |
| right testis | UBERON:0004534 | 98.98 | gold quality |
| right uterine tube | UBERON:0001302 | 97.76 | gold quality |
| testis | UBERON:0000473 | 96.26 | gold quality |
| pancreatic ductal cell | CL:0002079 | 92.48 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.09 | gold quality |
| bronchial epithelial cell | CL:0002328 | 90.74 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 89.81 | gold quality |
| bronchus | UBERON:0002185 | 88.94 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 87.99 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 83.98 | silver quality |
| minor salivary gland | UBERON:0001830 | 79.78 | gold quality |
| caput epididymis | UBERON:0004358 | 79.62 | gold quality |
| gall bladder | UBERON:0002110 | 79.61 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 79.00 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 78.75 | gold quality |
| bone marrow | UBERON:0002371 | 75.99 | gold quality |
| mouth mucosa | UBERON:0003729 | 75.52 | gold quality |
| cauda epididymis | UBERON:0004360 | 74.57 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 74.53 | gold quality |
| seminal vesicle | UBERON:0000998 | 73.69 | gold quality |
| fallopian tube | UBERON:0003889 | 72.85 | gold quality |
| oviduct epithelium | UBERON:0004804 | 71.70 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 71.36 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 70.39 | gold quality |
| corpus epididymis | UBERON:0004359 | 69.67 | gold quality |
| parotid gland | UBERON:0001831 | 68.90 | silver quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 12207.97 |
| E-HCAD-38 | yes | 5996.75 |
| E-ANND-3 | no | 3.24 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
38 targeting CRISP2, 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-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-8062 | 99.88 | 68.43 | 995 |
| HSA-MIR-582-5P | 99.47 | 70.79 | 2635 |
| HSA-MIR-501-3P | 99.33 | 66.12 | 651 |
| HSA-MIR-502-3P | 99.33 | 66.12 | 651 |
| HSA-MIR-491-3P | 98.88 | 68.86 | 1224 |
| HSA-MIR-487A-5P | 98.85 | 69.37 | 993 |
| HSA-MIR-487B-5P | 98.85 | 69.48 | 987 |
| HSA-MIR-7155-5P | 98.65 | 66.14 | 1290 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-4317 | 98.49 | 67.09 | 987 |
Literature-anchored findings (GeneRIF, showing 15)
- TPX1 is a component of the sperm acrosome that remains associated with sperm after capacitation and acrosome reaction , and is relevant for sperm-oocyte interaction. (PMID:15734896)
- The protein level and localization of TPX1 were altered in patients with spermatogenic arrest and in infertile men with oligoasthenoteratospermia syndrome. (PMID:16759931)
- Polymorphisms within the CRISP2 gene have no significant association with male infertility. (PMID:18550510)
- Additional transcription changes likely associated with Th2-like eosinophilic inflammation were prominent and included decreased CRISP2&3. (PMID:20625511)
- The down-regulation of CRISP2 mRNA and protein expressions in the sperm of asthenospermia patients may be closely related with decreased sperm motility. (PMID:21485539)
- CRISP2 rescues the phenotype of yeast mutants lacking Pry function and purified CRISP2 binds cholesterol in vitro, indicating that lipid binding is a conserved function of the CAP superfamily proteins. (PMID:23027975)
- Study shows the re-association of sperm acrosomal CRISP2 at the EqS during the acrosome reaction. Data showed that F-actin is not involved in the relocalization of CRISP2. Found that basic,but not acidic, conditions can solubilize CRISP2 from sperm cells. (PMID:23661501)
- Preliminary insight into the mechanism leading to the reduced CRISP2 expression in asthenozoospermia, offering a potential therapeutic target for treating male infertility or for male contraception. (PMID:25505194)
- Crisp2 genetic defects in sperm from humans and mice result in male infertility. (PMID:26786179)
- Results identified CRISP2 as a potential binding protein of PSP94 from human sperm. (PMID:27161017)
- low expression of CRISP2 protein rather than its mRNA was observed in the ejaculated spermatozoa from asthenoteratozoospermic patients as compared with normozoospermic males (PMID:27517483)
- The integrated network analysis identified BRCA1 and CRISP2 differentially methylated regions (DMR) as the most central disease-associated DNA methylation biomarkers. Moreover, methylation changes at BRCA1 and CRISP2 specific CpG sites were consistently associated with subclinical atherosclerosis measures. (PMID:28698603)
- DNA methylation profiling identifies epigenetic differences between early versus late stages of diabetic chronic kidney disease. (PMID:33146725)
- Discovery and validation of novel biomarkers for detection of cervical cancer. (PMID:33624385)
- CRISP2, CATSPER1 and PATE1 Expression in Human Asthenozoospermic Semen. (PMID:34440724)
Cross-species orthologs
46 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Crisp2 | ENSMUSG00000023930 |
| rattus_norvegicus | Crisp2 | ENSRNOG00000013225 |
| 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): CRISP3 (ENSG00000096006), R3HDML (ENSG00000101074), CRISPLD2 (ENSG00000103196), CRISPLD1 (ENSG00000121005), GLIPR2 (ENSG00000122694), CRISP1 (ENSG00000124812), PI15 (ENSG00000137558), GLIPR1 (ENSG00000139278), CLEC18B (ENSG00000140839), CLEC18A (ENSG00000157322), CLEC18C (ENSG00000157335), GLIPR1L1 (ENSG00000173401), GLIPR1L2 (ENSG00000180481)
Protein
Protein identifiers
Cysteine-rich secretory protein 2 — P16562 (reviewed: P16562)
Alternative names: Cancer/testis antigen 36, Testis-specific protein TPX-1
All UniProt accessions (2): A0A024RD74, P16562
UniProt curated annotations — full annotation on UniProt →
Function. May regulate some ion channels’ activity and thereby regulate calcium fluxes during sperm capacitation.
Subunit / interactions. Interacts with NSUN4 isoform 3.
Subcellular location. Secreted.
Tissue specificity. Testis and epididymis.
Similarity. Belongs to the CRISP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P16562-1 | 1 | yes |
| P16562-2 | 2 |
RefSeq proteins (6): NP_001135879, NP_001135880, NP_001135889, NP_001135907, NP_001248751, NP_003287* (*=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 (18 total): disulfide bond 5, sequence conflict 2, strand 2, helix 2, domain 2, signal peptide 1, chain 1, sequence variant 1, turn 1, splice variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2CQ7 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P16562-F1 | 93.33 | 0.88 |
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): 189–196, 192–201, 205–238, 214–232, 223–236
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 76 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, chr6p12, GNF2_CCNA1, MORF_EPHA7, MORF_RAB3A, MORF_BMPR2, MORF_DCC, WEBER_METHYLATED_HCP_IN_FIBROBLAST_DN, LEE_LIVER_CANCER_MYC_TGFA_DN, WEBER_METHYLATED_HCP_IN_SPERM_DN, YOSHIMURA_MAPK8_TARGETS_UP, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_B, BRUINS_UVC_RESPONSE_MIDDLE
GO Biological Process (0):
GO Molecular Function (0):
GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1296 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CRISP2 | PGK2 | P07205 | 813 |
| CRISP2 | CATSPER1 | Q8NEC5 | 751 |
| CRISP2 | PLB1 | Q6P1J6 | 655 |
| CRISP2 | IL4I1 | Q96RQ9 | 653 |
| CRISP2 | LTA4H | P09960 | 589 |
| CRISP2 | GGNBP2 | Q9H3C7 | 579 |
| CRISP2 | IZUMO1 | Q8IYV9 | 563 |
| CRISP2 | PATE1 | Q8WXA2 | 562 |
| CRISP2 | AKAP4 | Q5JQC9 | 542 |
| CRISP2 | PRM2 | P04554 | 528 |
| CRISP2 | TMEM37 | Q8WXS4 | 527 |
| CRISP2 | PLA2G2A | P14555 | 515 |
| CRISP2 | IZUMO3 | Q5VZ72 | 493 |
| CRISP2 | PLCZ1 | Q86YW0 | 492 |
| CRISP2 | PKDREJ | Q9NTG1 | 491 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CRISP2 | TUBA4A | psi-mi:“MI:0914”(association) | 0.530 |
| CREB3 | CRISP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CRISP2 | HSPA5 | psi-mi:“MI:0914”(association) | 0.350 |
| CRISP2 | LRP5 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (51): TACC3 (Affinity Capture-MS), CTSF (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), NLGN2 (Affinity Capture-MS), TUBA4A (Affinity Capture-MS), CRISP2 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), TUBA4A (Affinity Capture-MS), NLGN2 (Affinity Capture-MS), TACC3 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), PLXNA1 (Affinity Capture-MS), PCSK6 (Affinity Capture-MS), CELSR1 (Affinity Capture-MS), SEMA3B (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
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 34 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1071 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:49695922:CCA:C | acceptor_gain | 1.0000 |
| 6:49695923:CAC:C | acceptor_gain | 1.0000 |
| 6:49695925:C:CC | acceptor_gain | 1.0000 |
| 6:49698356:TCTTA:T | donor_loss | 1.0000 |
| 6:49698357:CTTAC:C | donor_loss | 1.0000 |
| 6:49698358:TTACC:T | donor_loss | 1.0000 |
| 6:49698359:TACC:T | donor_loss | 1.0000 |
| 6:49698360:A:AT | donor_loss | 1.0000 |
| 6:49698506:ACCT:A | acceptor_loss | 1.0000 |
| 6:49698508:CTA:C | acceptor_loss | 1.0000 |
| 6:49698509:T:C | acceptor_loss | 1.0000 |
| 6:49699799:CATA:C | donor_gain | 1.0000 |
| 6:49699802:A:AC | donor_gain | 1.0000 |
| 6:49699803:C:CC | donor_gain | 1.0000 |
| 6:49700004:C:CT | donor_gain | 1.0000 |
| 6:49700005:T:TT | donor_gain | 1.0000 |
| 6:49700652:CAGCA:C | donor_gain | 1.0000 |
| 6:49700667:CCAT:C | donor_gain | 1.0000 |
| 6:49700783:TC:T | acceptor_gain | 1.0000 |
| 6:49700784:CC:C | acceptor_gain | 1.0000 |
| 6:49700784:CCTAA:C | acceptor_loss | 1.0000 |
| 6:49700785:C:CC | acceptor_gain | 1.0000 |
| 6:49700785:CTA:C | acceptor_loss | 1.0000 |
| 6:49700786:T:A | acceptor_loss | 1.0000 |
| 6:49712499:A:AC | donor_gain | 1.0000 |
| 6:49712500:C:CA | donor_gain | 1.0000 |
| 6:49712500:CT:C | donor_gain | 1.0000 |
| 6:49712500:CTA:C | donor_gain | 1.0000 |
| 6:49712500:CTAA:C | donor_gain | 1.0000 |
| 6:49712500:CTAAT:C | donor_gain | 1.0000 |
AlphaMissense
1600 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:49692810:C:G | C232S | 0.996 |
| 6:49692811:A:T | C232S | 0.996 |
| 6:49699886:C:A | W63C | 0.996 |
| 6:49699886:C:G | W63C | 0.996 |
| 6:49700707:C:A | R48S | 0.996 |
| 6:49700707:C:G | R48S | 0.996 |
| 6:49700708:C:G | R48T | 0.996 |
| 6:49697926:C:G | C150S | 0.995 |
| 6:49697927:A:T | C150S | 0.995 |
| 6:49698416:A:C | F121L | 0.995 |
| 6:49698416:A:T | F121L | 0.995 |
| 6:49698418:A:G | F121L | 0.995 |
| 6:49698458:C:A | W107C | 0.995 |
| 6:49698458:C:G | W107C | 0.995 |
| 6:49699842:C:G | C78S | 0.995 |
| 6:49699843:A:T | C78S | 0.995 |
| 6:49700708:C:A | R48M | 0.995 |
| 6:49692864:C:G | C214S | 0.994 |
| 6:49692865:A:T | C214S | 0.994 |
| 6:49695838:C:G | C201S | 0.994 |
| 6:49695839:A:T | C201S | 0.994 |
| 6:49697875:C:T | C167Y | 0.994 |
| 6:49697876:A:G | C167R | 0.994 |
| 6:49697926:C:T | C150Y | 0.994 |
| 6:49698460:A:G | W107R | 0.994 |
| 6:49698460:A:T | W107R | 0.994 |
| 6:49698488:A:C | N97K | 0.994 |
| 6:49698488:A:T | N97K | 0.994 |
| 6:49697874:G:C | C167W | 0.993 |
| 6:49697875:C:G | C167S | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000005963 (6:49690796 T>C), RS1000032616 (6:49695432 C>T), RS1000067331 (6:49690130 A>G), RS1000128221 (6:49696358 A>G), RS1000220330 (6:49715263 T>C), RS1000251738 (6:49696501 G>T), RS1000384550 (6:49709384 C>T), RS1000389362 (6:49679272 C>A), RS1000420013 (6:49690317 C>A,T), RS1000435915 (6:49713293 G>A), RS1000682289 (6:49700974 T>C), RS1000709541 (6:49714882 C>A,G,T), RS1000726978 (6:49708036 A>G), RS1000860059 (6:49684613 T>G), RS1000879091 (6:49714805 T>C)
Disease associations
OMIM: gene MIM:187430 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): megacolon (MONDO:0001273)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003102_6 | Bone mineral density (hip) and age at menarche | 9.000000e-06 |
| GCST006585_1873 | Blood protein levels | 5.000000e-107 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004703 | age at menarche |
| EFO:0007702 | hip bone mineral density |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008531 | Megacolon | C06.405.469.158.701 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| arsenite | increases methylation | 1 |
| pentanal | increases expression | 1 |
| PKF115-584 | affects expression | 1 |
| Decitabine | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Doxorubicin | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Lithium Chloride | decreases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
2 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04340856 | Not specified | COMPLETED | Retrospective, Uncontrolled Cohort Study on the Therapy of Chronic Megalon |
| NCT07470892 | Not specified | NOT_YET_RECRUITING | Preoperative Fish Oil PN and Prognosis After Constipation Surgery |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): megacolon