SAPCD2
gene geneOn this page
Also known as p42.3
Summary
SAPCD2 (suppressor APC domain containing 2, HGNC:28055) is a protein-coding gene on chromosome 9q34.3, encoding Suppressor APC domain-containing protein 2 (Q86UD0). Plays a role in planar mitotic spindle orientation in retinal progenitor cells (RPCs) and promotes the production of symmetric terminal divisions.
Involved in negative regulation of protein localization to cell cortex and positive regulation of cell population proliferation. Located in several cellular components, including apical cortex; apical junction complex; and nuclear lumen.
Source: NCBI Gene 89958 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 61 total
- MANE Select transcript:
NM_178448
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28055 |
| Approved symbol | SAPCD2 |
| Name | suppressor APC domain containing 2 |
| Location | 9q34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | p42.3 |
| Ensembl gene | ENSG00000186193 |
| Ensembl biotype | protein_coding |
| OMIM | 612057 |
| Entrez | 89958 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000409687, ENST00000879034, ENST00000879035, ENST00000940023
RefSeq mRNA: 1 — MANE Select: NM_178448
NM_178448
CCDS: CCDS7027
Canonical transcript exons
ENST00000409687 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001332484 | 137064863 | 137064979 |
| ENSE00001332487 | 137065078 | 137065185 |
| ENSE00001332492 | 137065522 | 137065668 |
| ENSE00001332496 | 137066262 | 137066374 |
| ENSE00001413685 | 137062127 | 137064787 |
| ENSE00001856953 | 137069890 | 137070557 |
Expression profiles
Bgee: expression breadth ubiquitous, 191 present calls, max score 92.23.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.2600 / max 70.5986, expressed in 1210 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 103302 | 6.0670 | 1165 |
| 103301 | 1.1931 | 537 |
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 92.23 | gold quality |
| pancreatic ductal cell | CL:0002079 | 86.58 | silver quality |
| ileal mucosa | UBERON:0000331 | 85.98 | gold quality |
| vena cava | UBERON:0004087 | 85.93 | gold quality |
| cerebellar vermis | UBERON:0004720 | 84.17 | gold quality |
| ventricular zone | UBERON:0003053 | 84.16 | gold quality |
| upper arm skin | UBERON:0004263 | 83.53 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 83.32 | silver quality |
| thymus | UBERON:0002370 | 83.23 | gold quality |
| pylorus | UBERON:0001166 | 82.79 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 82.56 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 82.02 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 81.84 | gold quality |
| tongue | UBERON:0001723 | 81.79 | silver quality |
| parotid gland | UBERON:0001831 | 81.75 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 81.74 | gold quality |
| nipple | UBERON:0002030 | 81.66 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 81.62 | silver quality |
| gingival epithelium | UBERON:0001949 | 81.20 | silver quality |
| ventral tegmental area | UBERON:0002691 | 80.86 | silver quality |
| substantia nigra pars reticulata | UBERON:0001966 | 80.80 | silver quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 80.65 | silver quality |
| superior surface of tongue | UBERON:0007371 | 80.59 | gold quality |
| amygdala | UBERON:0001876 | 80.56 | gold quality |
| pericardium | UBERON:0002407 | 79.96 | gold quality |
| tibialis anterior | UBERON:0001385 | 79.84 | silver quality |
| pons | UBERON:0000988 | 79.82 | silver quality |
| lateral globus pallidus | UBERON:0002476 | 79.81 | gold quality |
| medulla oblongata | UBERON:0001896 | 79.78 | silver quality |
| mammalian vulva | UBERON:0000997 | 79.60 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7249 | yes | 70.39 |
| E-ANND-3 | no | 2.81 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
57 targeting SAPCD2, 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-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-1197 | 99.70 | 67.75 | 1027 |
| HSA-MIR-670-5P | 99.67 | 69.94 | 1565 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-130A-5P | 99.33 | 70.26 | 2623 |
| HSA-MIR-3692-5P | 99.29 | 67.04 | 1421 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-4293 | 99.22 | 65.46 | 1263 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-146A-3P | 99.13 | 68.99 | 1881 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-4324 | 99.04 | 70.14 | 1569 |
| HSA-MIR-4326 | 98.97 | 67.63 | 962 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-367-5P | 98.84 | 67.18 | 902 |
| HSA-MIR-4656 | 98.79 | 66.22 | 1306 |
Literature-anchored findings (GeneRIF, showing 19)
- the regulatory relationship between miRNAs and the p42.3 gene (PMID:21998710)
- p42.3 overexpression is associated with mitotic progression in malignant transformed cells. (PMID:23192843)
- p42.3 protein plays an important role in the generation and development of gastric cancer. (PMID:23228105)
- p42.3 might play an important role in the progression of colorectal cancer. (PMID:23576022)
- Up-regulation of p42.3 in hepatocellular carcinoma promotes tumorigenicity and tumor growth. (PMID:23704824)
- Role of C9orf140 in the promotion of colorectal cancer progression and mechanisms of its upregulation via activation of STAT5, beta-catenin and EZH2. (PMID:24608043)
- Overexpression of the p42.3 gene is associated with gliomas. (PMID:24927751)
- p42.3 has a role in the pathogenesis of gastric carcinoma (PMID:26106439)
- p42.3 gene expression is associated with gastric mucosal inflammation that can be upregulated by TNF-alpha and H. pylori infection. (PMID:26316259)
- results uncover SAPCD2 as a key regulator of the ternary complex controlling spindle orientation during morphogenesis and asymmetric cell divisions (PMID:26766442)
- Data show that overexpressed p42.3 protein is correlated with gastric cancer cell proliferation, migration, and invasion, suggesting its use as a biological marker in gastric cancer. (PMID:27449033)
- p42.3 protein was related to the occurrence and development of gastric carcinoma. (PMID:27461626)
- Study showed C9orf140 as a novel Axin1-interacting protein and a negative regulator of Wnt/beta-catenin signaling. It functions upstream of beta-catenin, outcompetes PP2A for binding to Axin1, influences the balance between phosphorylation and de-phosphorylation of beta-catenin compromising Wnt3A-induced beta-catenin accumulation. C9orf140 seems to mediate a negative feedback loop of Wnt/beta-catenin signaling by bindi… (PMID:29531269)
- SAPCD2 is increased and positively associated with that of PXN-AS1-L isoform in nasopharyngeal carcinoma (NPC). Gain and loss-of-function experiments demonstrated that SAPCD2 promotes NPC cell proliferation, migration, and invasion. Furthermore, depletion of SAPCD2 significantly reverses the roles of PXN-AS1-L in promoting NPC cell proliferation, migration, and invasion in vitro, and NPC tumor growth in vivo. (PMID:31173488)
- SAPCD2 promotes invasiveness and migration ability of breast cancer cells via YAP/TAZ. (PMID:32329855)
- YY1-inudced activation of lncRNA DUXAP8 promotes proliferation and suppresses apoptosis of triple negative breast cancer cells through upregulating SAPCD2. (PMID:33683171)
- SAPCD2 promotes neuroblastoma progression by altering the subcellular distribution of E2F7. (PMID:35197448)
- MiR-486-5p specifically suppresses SAPCD2 expression, which attenuates the aggressive phenotypes of lung adenocarcinoma cells. (PMID:35467005)
- Homologous proteins SAPCD2X1 and SAPCD2 have significantly different carcinogenic capacities in human colorectal cancer cells based on structural prediction and functional verification. (PMID:38158695)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| ENSDARG00000115167 | ||
| mus_musculus | Sapcd2 | ENSMUSG00000026955 |
| rattus_norvegicus | Sapcd2 | ENSRNOG00000013069 |
Paralogs (1): SAPCD1 (ENSG00000228727)
Protein
Protein identifiers
Suppressor APC domain-containing protein 2 — Q86UD0 (reviewed: Q86UD0)
Alternative names: Tumor specificity and mitosis phase-dependent expression protein, p42.3
All UniProt accessions (1): Q86UD0
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in planar mitotic spindle orientation in retinal progenitor cells (RPCs) and promotes the production of symmetric terminal divisions. Negatively regulates the mitotic apical cortex localization of GPSM2. Involved also in positive regulation of cell proliferation and tumor cell growth.
Subunit / interactions. Interacts with a spindle orientation complex at least composed of GNAI1, GPSM2 and NUMA1. Interacts with GPSM2 (via TPR motifs); this interaction is required to prevent GPSM2 anchoring at the mitotic apical cortex and is inhibited in presence of NUMA1 in a dose dependent manner. Interacts with PARD3.
Subcellular location. Cytoplasm. Nucleus. Cell cortex. Apical cell membrane. Cell junction. Tight junction.
Tissue specificity. Expressed in 5-month-old fetal tissues, including stomach, intestine, colon, liver, brain, lung, heart, spleen and kidney. Undetectable in non-cancerous adult tissues. Expressed in many primary gastric carcinoma, but almost not in adjacent normal mucosa. Expressed preferentially in M and G1 phases, compared to S and G2 phases. Expression is up-regulated in hepatocellular carcinoma (HCC) and colorectal cancer (CRC) tissues (at protein level).
RefSeq proteins (1): NP_848543* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026828 | SAPC2_1/2 | Family |
| IPR057953 | SAPC2_N | Domain |
Pfam: PF11414, PF25825
UniProt features (9 total): region of interest 3, coiled-coil region 2, modified residue 2, chain 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86UD0-F1 | 69.70 | 0.34 |
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 (2): 219, 284
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 128 (showing top):
GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_ESTABLISHMENT_OF_SPINDLE_ORIENTATION, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_SPINDLE_LOCALIZATION, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, YORDY_RECIPROCAL_REGULATION_BY_ETS1_AND_SP100_UP, GOBP_ESTABLISHMENT_OF_CELL_POLARITY, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, FISCHER_G2_M_CELL_CYCLE, GOBP_MITOTIC_CELL_CYCLE, GOCC_APICAL_PLASMA_MEMBRANE, FISCHER_DREAM_TARGETS, GOBP_MORPHOGENESIS_OF_A_POLARIZED_EPITHELIUM
GO Biological Process (6): establishment of mitotic spindle orientation (GO:0000132), positive regulation of cell population proliferation (GO:0008284), regulation of establishment of planar polarity (GO:0090175), symmetric cell division (GO:0098725), negative regulation of protein localization to cell cortex (GO:1904777), cell division (GO:0051301)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (13): nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), bicellular tight junction (GO:0005923), apical plasma membrane (GO:0016324), apical junction complex (GO:0043296), apical cortex (GO:0045179), nucleus (GO:0005634), cytoplasm (GO:0005737), plasma membrane (GO:0005886), cell cortex (GO:0005938), membrane (GO:0016020), anchoring junction (GO:0070161)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| nuclear lumen | 2 |
| cytoplasm | 2 |
| cell periphery | 2 |
| mitotic cell cycle | 1 |
| establishment of mitotic spindle localization | 1 |
| establishment of spindle orientation | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| establishment of planar polarity | 1 |
| regulation of animal organ morphogenesis | 1 |
| cell division | 1 |
| protein localization to cell cortex | 1 |
| negative regulation of protein localization to cell periphery | 1 |
| regulation of protein localization to cell cortex | 1 |
| cellular process | 1 |
| binding | 1 |
| intracellular membraneless organelle | 1 |
| apical junction complex | 1 |
| tight junction | 1 |
| apical part of cell | 1 |
| plasma membrane region | 1 |
| cell-cell junction | 1 |
| cell cortex region | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
772 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SAPCD2 | MISP | Q8IVT2 | 511 |
| SAPCD2 | AXIN1 | O15169 | 434 |
| SAPCD2 | PROSER2 | Q86WR7 | 410 |
| SAPCD2 | LRRN4CL | Q8ND94 | 396 |
| SAPCD2 | TMEM45B | Q96B21 | 384 |
| SAPCD2 | PDCL2 | Q8N4E4 | 368 |
| SAPCD2 | ITSN2 | Q9NZM3 | 356 |
| SAPCD2 | RIC8A | Q9NPQ8 | 345 |
| SAPCD2 | FAM107A | O95990 | 341 |
| SAPCD2 | CHST9 | Q7L1S5 | 339 |
| SAPCD2 | SLC44A4 | Q53GD3 | 338 |
| SAPCD2 | STARD13 | Q9Y3M8 | 333 |
| SAPCD2 | ARHGEF38 | Q9NXL2 | 328 |
| SAPCD2 | DUXA | A6NLW8 | 324 |
| SAPCD2 | UAP1L1 | Q3KQV9 | 324 |
IntAct
78 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RALBP1 | SAPCD2 | psi-mi:“MI:0915”(physical association) | 0.800 |
| RALBP1 | JUN | psi-mi:“MI:0914”(association) | 0.640 |
| MPDZ | SMCHD1 | psi-mi:“MI:0914”(association) | 0.590 |
| VCL | SAPCD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GMNN | SAPCD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | SAPCD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SAPCD2 | GPRASP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SAPCD2 | MDFI | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP1-3 | SAPCD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ATF4 | SAPCD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SAPCD2 | USHBP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SAPCD2 | AIRIM | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT3 | SAPCD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SAPCD2 | EXOC7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BFSP2 | SAPCD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLIN5 | INPPL1 | psi-mi:“MI:0914”(association) | 0.530 |
| CHGA | DENR | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| Cep350 | CCDC85C | psi-mi:“MI:0915”(physical association) | 0.400 |
| UBA1 | NVL | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| TANK | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| GPSM1 | BRD4 | psi-mi:“MI:0914”(association) | 0.350 |
| RALBP1 | AP2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| CBY2 | KIF11 | psi-mi:“MI:0914”(association) | 0.350 |
| DEPDC1 | SAPCD2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZFC3H1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (51): SAPCD2 (Affinity Capture-MS), SAPCD2 (Affinity Capture-MS), SAPCD2 (Affinity Capture-MS), SAPCD2 (Affinity Capture-MS), SAPCD2 (Affinity Capture-MS), SAPCD2 (Affinity Capture-MS), SAPCD2 (Affinity Capture-MS), SAPCD2 (Affinity Capture-MS), SAPCD2 (Affinity Capture-MS), SAPCD2 (Affinity Capture-MS), SAPCD2 (Affinity Capture-MS), SAPCD2 (Affinity Capture-RNA), SAPCD2 (Affinity Capture-MS), SAPCD2 (Two-hybrid), SAPCD2 (Two-hybrid)
ESM2 similar proteins: A0A8I5KY20, A2A9T0, A2IDD5, B0BNK9, B8ZZ34, C9JI98, C9JLR9, F5GYI3, O18734, P0CG25, P84157, Q0IIA6, Q0PHV7, Q0X0E2, Q13387, Q1RMK9, Q2M3D2, Q2TAM9, Q3ZCQ3, Q4VA45, Q673H1, Q69YZ2, Q6NS60, Q6P6N5, Q6PJ61, Q7Z6J2, Q80ZJ8, Q810I0, Q86SX3, Q86UD0, Q86XT2, Q8BNN1, Q8IUW3, Q8N4Y2, Q8N6N2, Q8QZV0, Q8R4T5, Q8TF61, Q8VCR9, Q8WXF8
Diamond homologs: Q5SSQ6, Q86UD0, Q9CY86, Q9D818
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
61 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 53 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
810 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:137064976:GGGCC:G | acceptor_loss | 1.0000 |
| 9:137064978:GCCTG:G | acceptor_loss | 1.0000 |
| 9:137065073:CTCA:C | donor_loss | 1.0000 |
| 9:137065074:TCA:T | donor_loss | 1.0000 |
| 9:137065075:CA:C | donor_loss | 1.0000 |
| 9:137065076:A:AC | donor_gain | 1.0000 |
| 9:137065076:AC:A | donor_gain | 1.0000 |
| 9:137065077:C:CC | donor_gain | 1.0000 |
| 9:137065077:CC:C | donor_gain | 1.0000 |
| 9:137065077:CCCGG:C | donor_gain | 1.0000 |
| 9:137065181:AAGTC:A | acceptor_gain | 1.0000 |
| 9:137065182:AGTC:A | acceptor_gain | 1.0000 |
| 9:137065183:GTC:G | acceptor_gain | 1.0000 |
| 9:137065184:TC:T | acceptor_gain | 1.0000 |
| 9:137065185:CC:C | acceptor_gain | 1.0000 |
| 9:137065186:C:CC | acceptor_gain | 1.0000 |
| 9:137065186:C:T | acceptor_gain | 1.0000 |
| 9:137065187:T:C | acceptor_loss | 1.0000 |
| 9:137065514:GCACT:G | donor_loss | 1.0000 |
| 9:137065515:CACTC:C | donor_loss | 1.0000 |
| 9:137065516:ACTCA:A | donor_loss | 1.0000 |
| 9:137065517:CTCAC:C | donor_loss | 1.0000 |
| 9:137065518:TCA:T | donor_loss | 1.0000 |
| 9:137065519:CAC:C | donor_loss | 1.0000 |
| 9:137065520:A:AC | donor_gain | 1.0000 |
| 9:137065520:A:AT | donor_loss | 1.0000 |
| 9:137065520:ACGG:A | donor_gain | 1.0000 |
| 9:137065521:C:CC | donor_gain | 1.0000 |
| 9:137065521:CG:C | donor_gain | 1.0000 |
| 9:137065521:CGG:C | donor_gain | 1.0000 |
AlphaMissense
2481 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:137064753:A:G | L364P | 0.998 |
| 9:137070377:G:C | F28L | 0.998 |
| 9:137070377:G:T | F28L | 0.998 |
| 9:137070379:A:G | F28L | 0.998 |
| 9:137064716:A:C | F376L | 0.997 |
| 9:137064716:A:T | F376L | 0.997 |
| 9:137064718:A:G | F376L | 0.997 |
| 9:137064732:A:G | L371P | 0.997 |
| 9:137070246:A:G | L72S | 0.997 |
| 9:137070293:C:A | W56C | 0.997 |
| 9:137070293:C:G | W56C | 0.997 |
| 9:137070295:A:G | W56R | 0.997 |
| 9:137070295:A:T | W56R | 0.997 |
| 9:137070378:A:G | F28S | 0.997 |
| 9:137064665:G:C | F393L | 0.996 |
| 9:137064665:G:T | F393L | 0.996 |
| 9:137064667:A:G | F393L | 0.996 |
| 9:137064720:A:G | L375P | 0.996 |
| 9:137070201:A:G | F87S | 0.996 |
| 9:137070209:G:C | F84L | 0.996 |
| 9:137070209:G:T | F84L | 0.996 |
| 9:137070211:A:G | F84L | 0.996 |
| 9:137070306:A:T | I52N | 0.995 |
| 9:137070366:A:G | L32P | 0.995 |
| 9:137064870:A:G | L350P | 0.994 |
| 9:137070306:A:C | I52S | 0.994 |
| 9:137070348:A:G | I38T | 0.994 |
| 9:137070378:A:C | F28C | 0.994 |
| 9:137064742:T:C | K368E | 0.993 |
| 9:137070353:G:C | F36L | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000077145 (9:137067706 G>A), RS1000805957 (9:137064559 G>A,T), RS1001047509 (9:137064383 A>T), RS1001155899 (9:137069226 A>G,T), RS1001828812 (9:137066894 C>A,T), RS1002024753 (9:137064250 C>T), RS1002592492 (9:137063010 C>T), RS1002621722 (9:137069361 C>G), RS1002652716 (9:137069551 G>A), RS1002916150 (9:137061687 T>C), RS1002975183 (9:137067600 C>T), RS1003456329 (9:137062114 A>G), RS1003656446 (9:137071825 G>A), RS1003694071 (9:137063274 C>G,T), RS1003978698 (9:137066994 CT>C,CTT)
Disease associations
OMIM: gene MIM:612057 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002402_80 | Platelet count | 4.000000e-10 |
| GCST90011899_10 | Aspartate aminotransferase levels | 1.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| 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
50 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 4 |
| Benzo(a)pyrene | decreases expression | 4 |
| Cyclosporine | decreases expression | 3 |
| Cisplatin | affects expression, decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Tunicamycin | decreases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| lead acetate | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sulforaphane | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| diallyl trisulfide | decreases expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| abrine | decreases expression | 1 |
| palbociclib | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | decreases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Azathioprine | 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.