CST1
gene geneOn this page
Summary
CST1 (cystatin SN, HGNC:2473) is a protein-coding gene on chromosome 20p11.21, encoding Cystatin-SN (P01037). Human saliva appears to contain several cysteine proteinase inhibitors that are immunologically related to cystatin S but that differ in their specificity due to amino acid sequence differences.
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a cysteine proteinase inhibitor found in saliva, tears, urine, and seminal fluid.
Source: NCBI Gene 1469 — RefSeq curated summary.
At a glance
- Gene–disease (curated): male infertility with azoospermia or oligozoospermia due to single gene mutation (Limited, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 49 total
- MANE Select transcript:
NM_001898
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2473 |
| Approved symbol | CST1 |
| Name | cystatin SN |
| Location | 20p11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000170373 |
| Ensembl biotype | protein_coding |
| OMIM | 123855 |
| Entrez | 1469 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000304749, ENST00000398402
RefSeq mRNA: 1 — MANE Select: NM_001898
NM_001898
CCDS: CCDS13160
Canonical transcript exons
ENST00000304749 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001604936 | 23749016 | 23749129 |
| ENSE00001694243 | 23750639 | 23750935 |
| ENSE00001834068 | 23747562 | 23747899 |
Expression profiles
Bgee: expression breadth ubiquitous, 106 present calls, max score 97.33.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.1758 / max 1873.1436, expressed in 36 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 186738 | 1.1486 | 36 |
| 186739 | 0.0272 | 1 |
Top tissues by expression
257 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gall bladder | UBERON:0002110 | 97.33 | gold quality |
| parotid gland | UBERON:0001831 | 83.81 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 80.41 | gold quality |
| tibial nerve | UBERON:0001323 | 63.52 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 63.31 | silver quality |
| pancreatic ductal cell | CL:0002079 | 62.96 | silver quality |
| prostate gland | UBERON:0002367 | 62.11 | gold quality |
| tonsil | UBERON:0002372 | 61.81 | gold quality |
| gluteal muscle | UBERON:0002000 | 61.74 | gold quality |
| triceps brachii | UBERON:0001509 | 61.72 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 59.93 | gold quality |
| endometrium | UBERON:0001295 | 58.20 | gold quality |
| vermiform appendix | UBERON:0001154 | 58.17 | gold quality |
| caecum | UBERON:0001153 | 56.23 | gold quality |
| right uterine tube | UBERON:0001302 | 55.85 | gold quality |
| cartilage tissue | UBERON:0002418 | 54.99 | gold quality |
| adult organism | UBERON:0007023 | 53.99 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 53.71 | gold quality |
| islet of Langerhans | UBERON:0000006 | 53.30 | gold quality |
| thymus | UBERON:0002370 | 52.89 | silver quality |
| hair follicle | UBERON:0002073 | 52.43 | gold quality |
| quadriceps femoris | UBERON:0001377 | 52.06 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 51.71 | gold quality |
| deltoid | UBERON:0001476 | 51.47 | gold quality |
| vastus lateralis | UBERON:0001379 | 51.02 | gold quality |
| seminal vesicle | UBERON:0000998 | 50.93 | silver quality |
| urinary bladder | UBERON:0001255 | 50.90 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 50.20 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 49.63 | silver quality |
| myocardium | UBERON:0002349 | 49.60 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7008 | yes | 9938.22 |
| E-ANND-3 | yes | 6.42 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting CST1, 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-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-452-5P | 99.65 | 69.63 | 1762 |
| HSA-MIR-4676-3P | 99.65 | 69.31 | 1733 |
| HSA-MIR-892C-3P | 99.65 | 69.38 | 1745 |
| HSA-MIR-4663 | 99.62 | 65.33 | 957 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-4722-5P | 98.46 | 66.34 | 1611 |
| HSA-MIR-302F | 98.44 | 69.02 | 1776 |
| HSA-MIR-6753-5P | 94.70 | 64.08 | 470 |
Literature-anchored findings (GeneRIF, showing 28)
- Murine monoclonal antibodies were made which can distinguish between CST1 and CST2. (PMID:15829315)
- CST1 might be highly involved in gastric tumorigenesis and regulate the proteolytic activity of cysteine proteases. (PMID:19463800)
- Identification of Cystatin SN as a novel tumor marker for colorectal cancer. (PMID:19513549)
- CST1 expression at both the messenger RNA and protein levels was barely detected in control cells, which included early passage proliferating, quiescent, or immortal human fibroblasts (PMID:21636832)
- CST1 may contribute to inactivation of protease allergens and help re-establish homeostasis of the nasal membranes. (PMID:23950865)
- In conclusion, our data suggest that CST1 might contribute to the proliferation of pancreatic cancer cells and could be a potential biomarker for the early detection of pancreatic cancer. (PMID:25577248)
- high expression of Cystatin SN is a significant prognostic indicator of a higher rate of recurrence, metastatic risk, and poor survival in patients with surgically resected NSCLCs. (PMID:25648368)
- interactions of human family 1 & 2 cystatins with cathepsin L1 (PMID:27764212)
- These results indicate that CST1-mediated extracellular CatB activity enhances tumor development by preventing cellular senescence. (PMID:28383558)
- High CST1 expression is negatively correlated with survival of breast cancer patients. CST1 promotes cell proliferation, clone formation, and metastasis in breast cancer cells. CST1 is a novel potential prognostic biomarker and therapeutic target for breast cancer. (PMID:28523467)
- this results identified cystatin 1 as a biomarker in patients with seasonal allergic rhinitis (PMID:28633877)
- CST1 may be involved in the pathogenesis of Eosinophilic chronic rhinosinusitis (CRS), and may contribute to the severity and recurrence of CRS with nasal polyps after endoscopic sinus surgery. (PMID:29698614)
- Results revealed that CST1 expression was upregulated in colon cancer (CC) compared with normal tissues and contributed to CC cell proliferation. (PMID:29845224)
- Human cystatin SN suppresses allergic rhinitis (AR) symptoms through inhibiting allergen protease activities and protecting the nasal TJ barrier in an allergen-specific manner. We propose that upregulation of nasal endogenous protease inhibitors, including cystatin SN, is a novel therapeutic strategy for protease allergen-induced AR. (PMID:30012514)
- CST1 enhanced eosinophil activation and recruitment through induction of IL-5. (PMID:30974106)
- The CST complex (CTC1-STN1-TEN1) maintains genome integrity through resolution of G4 structures both ahead of the replication fork and on the lagging strand template (PMID:30976812)
- The role of CST1 in hepatocellular carcinoma (HCC) progression and its potential as a latent target for HCC treatment is reported. (PMID:31106426)
- CST1 was identified as one of the target genes regulated by HOXC10 in gastric cancer. CST1 knockdown represses tumorigenicity of gastric cancer cells. (PMID:31115563)
- Prognostic and pharmacologic value of cystatin SN for chronic rhinosinusitis with nasal polyps. (PMID:33675819)
- Cystatin C and cystatin SN as possible soluble tumor markers in malignant uveal melanoma. (PMID:34957724)
- Cystatin SN promotes epithelial-mesenchymal transition and serves as a prognostic biomarker in lung adenocarcinoma. (PMID:35637432)
- MicroRNA-375 inhibits laryngeal squamous cell carcinoma progression via targeting CST1. (PMID:35953439)
- MiR-942-5p inhibits tumor migration and invasion through targeting CST1 in esophageal squamous cell carcinoma. (PMID:36848349)
- Cystatin SN in type 2 inflammatory airway diseases. (PMID:36958985)
- Epithelium-derived cystatin SN inhibits house dust mite protease activity in allergic asthma. (PMID:37026502)
- Meibomian Gland Dysfunction Is Associated with Low Levels of Immunoglobulin Chains and Cystatin-SN. (PMID:37894795)
- Combination of serum CST1 and HE4 for early diagnosis of endometrial cancer. (PMID:38077439)
- The functional role of CST1 and CCL26 in asthma development. (PMID:38270326)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:busm1-57f23.1 | ENSDARG00000074425 |
| caenorhabditis_elegans | WBGENE00000534 | |
| caenorhabditis_elegans | WBGENE00000535 | |
| caenorhabditis_elegans | WBGENE00023486 |
Paralogs (11): CST7 (ENSG00000077984), CST9L (ENSG00000101435), CST3 (ENSG00000101439), CST4 (ENSG00000101441), CST8 (ENSG00000125815), CSTL1 (ENSG00000125823), CST11 (ENSG00000125831), CST5 (ENSG00000170367), CST2 (ENSG00000170369), CST9 (ENSG00000173335), CST6 (ENSG00000175315)
Protein
Protein identifiers
Cystatin-SN — P01037 (reviewed: P01037)
Alternative names: Cystain-SA-I, Cystatin-1, Salivary cystatin-SA-1
All UniProt accessions (1): P01037
UniProt curated annotations — full annotation on UniProt →
Function. Human saliva appears to contain several cysteine proteinase inhibitors that are immunologically related to cystatin S but that differ in their specificity due to amino acid sequence differences. Cystatin SN, with a pI of 7.5, is a much better inhibitor of papain and dipeptidyl peptidase I than is cystatin S, although both inhibit ficin equally well.
Subcellular location. Secreted.
Tissue specificity. Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level). Expressed in saliva, tears, urine and seminal fluid.
Similarity. Belongs to the cystatin family.
RefSeq proteins (1): NP_001889* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000010 | Cystatin_dom | Domain |
| IPR018073 | Prot_inh_cystat_CS | Conserved_site |
| IPR046350 | Cystatin_sf | Homologous_superfamily |
Pfam: PF00031
UniProt features (11 total): sequence variant 5, disulfide bond 2, signal peptide 1, chain 1, short sequence motif 1, site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P01037-F1 | 92.69 | 0.75 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 32 (reactive site)
Disulfide bonds (2): 94–104, 118–138
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 67 (showing top):
MODULE_255, MODULE_317, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, MAHADEVAN_IMATINIB_RESISTANCE_DN, VETTER_TARGETS_OF_PRKCA_AND_ETS1_DN, GOBP_DETECTION_OF_CHEMICAL_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION_OF_TASTE, GOBP_SENSORY_PERCEPTION_OF_TASTE, MODULE_88, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, CHIANG_LIVER_CANCER_SUBCLASS_CTNNB1_UP, MODULE_69, MODULE_55, GOMF_PEPTIDASE_REGULATOR_ACTIVITY, chr20p11
GO Biological Process (1): detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)
GO Molecular Function (3): cysteine-type endopeptidase inhibitor activity (GO:0004869), protein binding (GO:0005515), peptidase inhibitor activity (GO:0030414)
GO Cellular Component (4): obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), vesicle (GO:0031982), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| detection of chemical stimulus involved in sensory perception of taste | 1 |
| sensory perception of bitter taste | 1 |
| cysteine-type endopeptidase activity | 1 |
| endopeptidase inhibitor activity | 1 |
| binding | 1 |
| enzyme inhibitor activity | 1 |
| peptidase activity | 1 |
| peptidase regulator activity | 1 |
| intracellular anatomical structure | 1 |
| membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
633 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CST1 | CPPED1 | Q9BRF8 | 938 |
| CST1 | PIP | P12273 | 696 |
| CST1 | CSTA | P01040 | 629 |
| CST1 | AZGP1 | P25311 | 618 |
| CST1 | STATH | P02808 | 580 |
| CST1 | CSTB | P04080 | 565 |
| CST1 | S100A9 | P06702 | 520 |
| CST1 | CA6 | P23280 | 517 |
| CST1 | LCN1 | P31025 | 485 |
| CST1 | BPIFA2 | Q96DR5 | 475 |
| CST1 | LYZL1 | Q6UWQ5 | 469 |
| CST1 | DCD | P58461 | 451 |
| CST1 | CTSS | P25774 | 447 |
| CST1 | GZF1 | Q9H116 | 438 |
| CST1 | AMY1B | P04745 | 434 |
IntAct
98 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TADA3 | TADA2A | psi-mi:“MI:0914”(association) | 0.740 |
| COMMD1 | VPS26C | psi-mi:“MI:0914”(association) | 0.730 |
| TAX1BP3 | ARVCF | psi-mi:“MI:0914”(association) | 0.690 |
| NDUFA13 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.640 |
| UQCRQ | COX7A2L | psi-mi:“MI:0914”(association) | 0.640 |
| ACTR3 | ARPC2 | psi-mi:“MI:0914”(association) | 0.640 |
| C1D | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.640 |
| DNAJC8 | SF3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| SGTA | CST1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CSNK2B | CST1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CST1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| CST1 | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CST1 | IER3IP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CST1 | CSNK2B | psi-mi:“MI:0915”(physical association) | 0.560 |
| CST1 | ASPH | psi-mi:“MI:0915”(physical association) | 0.560 |
| FTH1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| FRMD1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| DDX31 | IGLL5 | psi-mi:“MI:0914”(association) | 0.530 |
| CST1 | CTSV | psi-mi:“MI:0914”(association) | 0.530 |
| HBM | SCGB2A1 | psi-mi:“MI:0914”(association) | 0.530 |
| B3GALNT1 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| RHOBTB1 | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
| GTF2B | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
| PLEKHG6 | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
| UBTD2 | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (167): SGTA (Two-hybrid), CST1 (Affinity Capture-MS), CST1 (Affinity Capture-MS), CST1 (Affinity Capture-MS), CST1 (Affinity Capture-MS), CST1 (Affinity Capture-MS), CST1 (Affinity Capture-MS), CST4 (Affinity Capture-MS), CST1 (Affinity Capture-MS), CTSH (Affinity Capture-MS), CST1 (Affinity Capture-MS), CST1 (Affinity Capture-MS), CST1 (Affinity Capture-MS), CST1 (Affinity Capture-MS), CST1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0K0IP23, A0A224AHH8, A0A3S6I186, A0A5C1J0Z8, A0A6B9KZ52, B1P1J3, B2Z450, B7PKZ1, B7PKZ2, E3P6N3, E3P6N4, E3P6N5, E3P6N6, E3P6N7, E3P6N8, E3P6N9, E3P6P0, E3P6P1, E3P6P2, E3P6P3, E3P6P4, G5EDZ9, J3RYX9, J3SE80, O60676, O88969, P01037, P01048, P08935, P0DXA0, P19313, P22085, P28325, P32766, P35481, P81714, P90698, Q15828, Q2XXN5, Q331K1
Diamond homologs: A0A0K0IP23, B1P1J3, G5ECM9, G5EDZ9, O19092, P01034, P01037, P22085, Q6QZV5, Q91195, Q9JM84, B2Z450, E3P6N3, E3P6N4, E3P6N5, E3P6N6, E3P6N7, E3P6N8, E3P6N9, E3P6P0, E3P6P1, E3P6P2, E3P6P3, E3P6P4, J3RYX9, J3SE80, O19093, O97862, P01035, P01038, P08935, P0DXA0, P14841, P19313, P21460, P31726, P35481, P81061, P81714, P90698
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
49 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 8 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
219 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:23747898:TTC:T | acceptor_loss | 1.0000 |
| 20:23747900:C:A | acceptor_loss | 1.0000 |
| 20:23747900:C:CC | acceptor_gain | 1.0000 |
| 20:23747902:G:C | acceptor_gain | 1.0000 |
| 20:23749011:CGTA:C | donor_loss | 1.0000 |
| 20:23749012:GTA:G | donor_loss | 1.0000 |
| 20:23749013:TACC:T | donor_loss | 1.0000 |
| 20:23749014:ACCT:A | donor_loss | 1.0000 |
| 20:23749015:CCTT:C | donor_gain | 1.0000 |
| 20:23749125:ACGGT:A | acceptor_gain | 1.0000 |
| 20:23749126:CGGT:C | acceptor_gain | 1.0000 |
| 20:23749126:CGGTC:C | acceptor_gain | 1.0000 |
| 20:23749128:GT:G | acceptor_gain | 1.0000 |
| 20:23749128:GTC:G | acceptor_loss | 1.0000 |
| 20:23749129:TC:T | acceptor_loss | 1.0000 |
| 20:23749130:C:CC | acceptor_gain | 1.0000 |
| 20:23749131:T:G | acceptor_loss | 1.0000 |
| 20:23749133:C:CT | acceptor_gain | 1.0000 |
| 20:23749135:C:CT | acceptor_gain | 1.0000 |
| 20:23749137:C:CT | acceptor_gain | 1.0000 |
| 20:23749138:A:T | acceptor_gain | 1.0000 |
| 20:23750636:TAC:T | donor_loss | 1.0000 |
| 20:23750637:A:AC | donor_gain | 1.0000 |
| 20:23750638:C:CC | donor_gain | 1.0000 |
| 20:23750638:C:CT | donor_loss | 1.0000 |
| 20:23747895:TGTTT:T | acceptor_gain | 0.9900 |
| 20:23747896:GTTT:G | acceptor_gain | 0.9900 |
| 20:23747897:TTT:T | acceptor_gain | 0.9900 |
| 20:23747898:TT:T | acceptor_gain | 0.9900 |
| 20:23747902:G:GC | acceptor_gain | 0.9900 |
AlphaMissense
918 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:23747861:C:A | W127C | 0.971 |
| 20:23747861:C:G | W127C | 0.971 |
| 20:23747882:G:C | F120L | 0.960 |
| 20:23747882:G:T | F120L | 0.960 |
| 20:23747884:A:G | F120L | 0.960 |
| 20:23747889:C:G | C118S | 0.959 |
| 20:23747890:A:T | C118S | 0.959 |
| 20:23747883:A:C | F120C | 0.957 |
| 20:23750717:G:C | F50L | 0.949 |
| 20:23750717:G:T | F50L | 0.949 |
| 20:23750719:A:G | F50L | 0.949 |
| 20:23749077:C:G | C94S | 0.946 |
| 20:23749078:A:T | C94S | 0.946 |
| 20:23749083:G:A | T92I | 0.925 |
| 20:23747829:C:G | C138S | 0.924 |
| 20:23747830:A:T | C138S | 0.924 |
| 20:23750715:G:T | A51D | 0.923 |
| 20:23749041:A:C | F106C | 0.921 |
| 20:23750640:T:G | Q76P | 0.920 |
| 20:23749047:C:G | C104S | 0.916 |
| 20:23749048:A:T | C104S | 0.916 |
| 20:23749078:A:G | C94R | 0.914 |
| 20:23747890:A:G | C118R | 0.912 |
| 20:23750699:G:C | N56K | 0.908 |
| 20:23750699:G:T | N56K | 0.908 |
| 20:23749077:C:T | C94Y | 0.904 |
| 20:23750639:C:A | Q76H | 0.904 |
| 20:23750639:C:G | Q76H | 0.904 |
| 20:23749048:A:G | C104R | 0.903 |
| 20:23750718:A:C | F50C | 0.898 |
dbSNP variants (sampled 300 via entrez): RS1000382148 (20:23747093 T>C,G), RS1001074339 (20:23752920 G>A,C,T), RS1002872823 (20:23748065 G>A,C), RS1003078365 (20:23751268 G>A,T), RS1004075527 (20:23752561 C>G,T), RS1004447204 (20:23748757 T>A,C), RS1004898817 (20:23748298 C>G,T), RS1005113982 (20:23751481 T>C), RS1005901630 (20:23747587 A>T), RS1005928673 (20:23747481 G>C), RS1007523440 (20:23749857 G>A,C), RS1008117728 (20:23749070 C>T), RS1009581787 (20:23752900 C>T), RS1009616220 (20:23752758 G>A,T), RS1011424035 (20:23752648 C>A,G,T)
Disease associations
OMIM: gene MIM:123855 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| male infertility with azoospermia or oligozoospermia due to single gene mutation | Limited | Autosomal recessive |
Mondo (1): (MONDO:0018393)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006585_1273 | Blood protein levels | 1.000000e-115 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | increases expression, increases abundance | 3 |
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| bisphenol A | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| mercuric bromide | affects cotreatment, increases expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| corosolic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Endosulfan | decreases expression | 1 |
| Estradiol | affects expression, increases reaction | 1 |
| Etoposide | affects response to substance | 1 |
| Lipopolysaccharides | affects expression, affects response to substance | 1 |
| Lucanthone | increases expression | 1 |
| Methotrexate | affects response to substance | 1 |
| Phosphorus | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | increases abundance, increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Nanotubes, Carbon | increases expression | 1 |
| Particulate Matter | increases abundance, increases 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.