MOB4
gene geneOn this page
Also known as MOB3DKFZP564M112CGI-952C4DPHOCN
Summary
MOB4 (MOB family member 4, phocein, HGNC:17261) is a protein-coding gene on chromosome 2q33.1, encoding MOB-like protein phocein (Q9Y3A3). Part of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. It is a selective cancer dependency (DepMap: 57.1% of cell lines).
This gene was identified based on its similarity with the mouse counterpart. Studies of the mouse counterpart suggest that the expression of this gene may be regulated during oocyte maturation and preimplantation following zygotic gene activation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HSPE1.
Source: NCBI Gene 25843 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 1 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 57.1% of screened cell lines
- MANE Select transcript:
NM_015387
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17261 |
| Approved symbol | MOB4 |
| Name | MOB family member 4, phocein |
| Location | 2q33.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN |
| Ensembl gene | ENSG00000115540 |
| Ensembl biotype | protein_coding |
| OMIM | 609361 |
| Entrez | 25843 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 8 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000233892, ENST00000323303, ENST00000409355, ENST00000409360, ENST00000409916, ENST00000417097, ENST00000448447, ENST00000497443, ENST00000853551, ENST00000924868, ENST00000924869
RefSeq mRNA: 4 — MANE Select: NM_015387
NM_001100819, NM_001204094, NM_015387, NM_199482
CCDS: CCDS2321, CCDS2322, CCDS46480
Canonical transcript exons
ENST00000323303 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000803180 | 197550515 | 197553699 |
| ENSE00001813004 | 197516066 | 197516146 |
| ENSE00003460959 | 197535530 | 197535630 |
| ENSE00003480693 | 197548336 | 197548415 |
| ENSE00003511242 | 197540351 | 197540437 |
| ENSE00003557830 | 197523624 | 197523686 |
| ENSE00003616498 | 197550275 | 197550386 |
| ENSE00003636966 | 197540111 | 197540153 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 99.60.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.3418 / max 504.2526, expressed in 1813 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 24486 | 47.1348 | 1813 |
| 24484 | 0.1126 | 41 |
| 24485 | 0.0944 | 32 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 99.60 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 96.15 | gold quality |
| heart right ventricle | UBERON:0002080 | 96.13 | gold quality |
| biceps brachii | UBERON:0001507 | 96.09 | gold quality |
| diaphragm | UBERON:0001103 | 96.05 | silver quality |
| deltoid | UBERON:0001476 | 95.80 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 95.46 | gold quality |
| vastus lateralis | UBERON:0001379 | 95.43 | gold quality |
| myocardium | UBERON:0002349 | 95.42 | gold quality |
| quadriceps femoris | UBERON:0001377 | 95.38 | gold quality |
| triceps brachii | UBERON:0001509 | 95.28 | gold quality |
| cortical plate | UBERON:0005343 | 95.26 | gold quality |
| tibialis anterior | UBERON:0001385 | 95.25 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.23 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 95.22 | silver quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 95.06 | gold quality |
| gluteal muscle | UBERON:0002000 | 94.91 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 94.34 | gold quality |
| muscle tissue | UBERON:0002385 | 94.13 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 93.79 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.48 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.45 | gold quality |
| islet of Langerhans | UBERON:0000006 | 93.17 | gold quality |
| oral cavity | UBERON:0000167 | 92.99 | gold quality |
| adrenal gland | UBERON:0002369 | 92.91 | gold quality |
| ventricular zone | UBERON:0003053 | 92.87 | gold quality |
| endothelial cell | CL:0000115 | 92.85 | gold quality |
| cauda epididymis | UBERON:0004360 | 92.82 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 92.79 | gold quality |
| mammalian vulva | UBERON:0000997 | 92.70 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
144 targeting MOB4, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| 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-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 57.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- phosphorylation of MOB1 at Thr74 by MST2 is essential to make a complex of MOB1, MST2 and NDR1, and to fully activate NDR1 (PMID:18362890)
- hMOB3 modulates MST1 apoptotic signaling and supports tumor growth in glioblastoma multiforme. (PMID:24872389)
- Because of divergent evolution of key interface residues, MST4 and MOB4 could disrupt assembly of the MST1-MOB1 complex through alternative pairing and thereby increased YAP activity. Collectively, these findings identify the MST4-MOB4 complex as a noncanonical regulator of the Hippo-YAP pathway with an oncogenic role in PC (PMID:30072378)
- Mob4 is essential for spermatogenesis in Drosophila melanogaster. (PMID:37259670)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mob4 | ENSDARG00000056085 |
| mus_musculus | Mob4 | ENSMUSG00000025979 |
| rattus_norvegicus | Mob4 | ENSRNOG00000014980 |
| drosophila_melanogaster | Mob4 | FBGN0259483 |
| caenorhabditis_elegans | WBGENE00016238 |
Paralogs (6): MOB1A (ENSG00000114978), MOB3B (ENSG00000120162), MOB3C (ENSG00000142961), MOB3A (ENSG00000172081), MOB1B (ENSG00000173542), MOB2 (ENSG00000182208)
Protein
Protein identifiers
MOB-like protein phocein — Q9Y3A3 (reviewed: Q9Y3A3)
Alternative names: 2C4D, Class II mMOB1, Mob1 homolog 3, Mps one binder kinase activator-like 3, Preimplantation protein 3
All UniProt accessions (4): B4DM50, Q9Y3A3, F8W8B0, F8WAQ8
UniProt curated annotations — full annotation on UniProt →
Function. Part of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation.
Subunit / interactions. Binds STRN4. Interacts with DNM1 and EPS15. Interacts with nucleoside diphosphate kinase. Interacts with CTTNBP2. Interacts with CTTNBP2NL. Part of the core of STRIPAK complexes composed of PP2A catalytic and scaffolding subunits, the striatins (PP2A regulatory subunits), the striatin-associated proteins MOB4, STRIP1 and STRIP2, PDCD10 and members of the STE20 kinases, such as STK24 and STK26.
Subcellular location. Cytoplasm. Perinuclear region. Membrane. Golgi apparatus. Golgi stack membrane.
Post-translational modifications. Phosphorylated on serine residues.
Similarity. Belongs to the MOB1/phocein family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y3A3-1 | 1 | yes |
| Q9Y3A3-2 | 2 | |
| Q9Y3A3-3 | 3 |
RefSeq proteins (4): NP_001094289, NP_001191023, NP_056202, NP_955776 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005301 | MOB_kinase_act_fam | Family |
| IPR036703 | MOB_kinase_act_sf | Homologous_superfamily |
Pfam: PF03637
UniProt features (31 total): helix 9, binding site 8, turn 4, sequence conflict 3, splice variant 2, strand 2, chain 1, region of interest 1, mutagenesis site 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5YF4 | X-RAY DIFFRACTION | 1.9 |
| 7K36 | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y3A3-F1 | 91.29 | 0.83 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (8): 92; 97; 110; 113; 119; 127; 169; 174
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 161–165 | decreased formation of stripak core complex. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 201 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, MODULE_255, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, ATACCTC_MIR202, MODULE_317, TATTATA_MIR374, GOBP_HIPPO_SIGNALING, BONCI_TARGETS_OF_MIR15A_AND_MIR16_1, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, WEI_MYCN_TARGETS_WITH_E_BOX, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GCM_NUMA1, TGACATY_UNKNOWN, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, GCM_NF2
GO Biological Process (1): negative regulation of hippo signaling (GO:0035331)
GO Molecular Function (3): protein-macromolecule adaptor activity (GO:0030674), metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (8): cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), Golgi cisterna membrane (GO:0032580), perinuclear region of cytoplasm (GO:0048471), FAR/SIN/STRIPAK complex (GO:0090443), postsynapse (GO:0098794), glutamatergic synapse (GO:0098978), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoplasm | 2 |
| synapse | 2 |
| hippo signaling | 1 |
| regulation of hippo signaling | 1 |
| negative regulation of intracellular signal transduction | 1 |
| protein binding | 1 |
| molecular adaptor activity | 1 |
| cation binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| Golgi cisterna | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
978 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MOB4 | STRN | O43815 | 999 |
| MOB4 | STK26 | Q9P289 | 991 |
| MOB4 | STRIP1 | Q5VSL9 | 990 |
| MOB4 | PDCD10 | Q9BUL8 | 982 |
| MOB4 | STRIP2 | Q9ULQ0 | 981 |
| MOB4 | STK25 | O00506 | 952 |
| MOB4 | PPP2R1A | P30153 | 949 |
| MOB4 | PPP2CA | P05323 | 923 |
| MOB4 | SLMAP | Q14BN4 | 915 |
| MOB4 | STK24 | Q9Y6E0 | 876 |
| MOB4 | STRN4 | Q9NRL3 | 842 |
| MOB4 | CTTNBP2NL | Q9P2B4 | 807 |
| MOB4 | SIKE1 | Q9BRV8 | 794 |
| MOB4 | STRN3 | Q13033 | 790 |
| MOB4 | MOB2 | Q70IA6 | 781 |
IntAct
175 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP2R1A | PPP2CA | psi-mi:“MI:0914”(association) | 0.990 |
| PDCD10 | STK25 | psi-mi:“MI:0914”(association) | 0.980 |
| NPHP1 | NPHP4 | psi-mi:“MI:2364”(proximity) | 0.930 |
| STRN3 | PPP2R1A | psi-mi:“MI:0914”(association) | 0.920 |
| STK25 | STRN | psi-mi:“MI:0914”(association) | 0.900 |
| STK24 | STK25 | psi-mi:“MI:0914”(association) | 0.890 |
| PPP2R1A | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| PPP2R1A | STRN | psi-mi:“MI:2364”(proximity) | 0.880 |
| STRN3 | STK25 | psi-mi:“MI:0914”(association) | 0.880 |
| CTTNBP2NL | STK25 | psi-mi:“MI:0914”(association) | 0.880 |
| STRN3 | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| STRN3 | STRN | psi-mi:“MI:2364”(proximity) | 0.880 |
| STK24 | STRN | psi-mi:“MI:0914”(association) | 0.870 |
| STRIP1 | PPP2CB | psi-mi:“MI:0914”(association) | 0.870 |
| STK26 | STRN | psi-mi:“MI:0914”(association) | 0.860 |
| PRDM14 | CBFA2T2 | psi-mi:“MI:0914”(association) | 0.860 |
| PPP2CA | STRN | psi-mi:“MI:0914”(association) | 0.840 |
| STRIP1 | STK25 | psi-mi:“MI:0914”(association) | 0.840 |
| STRN3 | PPP2R1A | psi-mi:“MI:0914”(association) | 0.830 |
| CTTNBP2NL | STRN | psi-mi:“MI:2364”(proximity) | 0.820 |
| STRN | MOB4 | psi-mi:“MI:0915”(physical association) | 0.790 |
BioGRID (270): MOB4 (Affinity Capture-MS), MOB4 (Affinity Capture-MS), MOB4 (Two-hybrid), MOB4 (Two-hybrid), MOB4 (Affinity Capture-MS), MOB4 (Affinity Capture-MS), MOB4 (Affinity Capture-MS), MOB4 (Affinity Capture-MS), MOB4 (Co-fractionation), MOB4 (Co-fractionation), SF3B1 (Co-fractionation), STRN (Co-fractionation), STRN3 (Co-fractionation), STRN4 (Co-fractionation), MOB4 (Proximity Label-MS)
ESM2 similar proteins: A0A223HDI2, A2BG43, B0BLT4, B0BNM9, B0YN54, O22797, O64587, O94360, P40124, P68265, P68266, Q01518, Q08163, Q0VCQ0, Q2WBN3, Q3SYV4, Q3T1J9, Q4R4I6, Q54XJ0, Q5F495, Q5HZ92, Q5RAE0, Q5RDB1, Q5TA50, Q5XIS2, Q63ZQ3, Q66JG2, Q6DBQ8, Q6NLQ3, Q6NU44, Q6PEB6, Q6Z6S1, Q70IA6, Q7L9L4, Q8BPB0, Q8BS40, Q8GYX0, Q8VI63, Q921Y0, Q949G5
Diamond homologs: P34349, Q5F495, Q5RDB1, Q6PEB6, Q7K0E3, Q9QYW3, Q9Y3A3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 143 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Degradation of beta-catenin by the destruction complex | 8 | 15.6× | 1e-05 |
| Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha | 6 | 13.3× | 6e-04 |
| Anchoring of the basal body to the plasma membrane | 10 | 12.7× | 3e-06 |
| Defective CFTR causes cystic fibrosis | 5 | 12.3× | 3e-03 |
| Orc1 removal from chromatin | 5 | 10.0× | 5e-03 |
| Loss of Nlp from mitotic centrosomes | 5 | 8.9× | 5e-03 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 5 | 8.9× | 5e-03 |
| AURKA Activation by TPX2 | 5 | 8.6× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of hippo signaling | 7 | 39.3× | 3e-07 |
| regulation of MAPK cascade | 5 | 18.2× | 1e-03 |
| protein autophosphorylation | 9 | 10.5× | 9e-05 |
| protein phosphorylation | 11 | 6.0× | 7e-04 |
| intracellular signal transduction | 14 | 4.3× | 9e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
1 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 150620 | GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 | Pathogenic |
SpliceAI
1076 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:197516145:AGGTA:A | donor_loss | 1.0000 |
| 2:197516146:GGTAC:G | donor_loss | 1.0000 |
| 2:197516147:G:GC | donor_loss | 1.0000 |
| 2:197523618:TTATA:T | acceptor_loss | 1.0000 |
| 2:197523619:TATA:T | acceptor_loss | 1.0000 |
| 2:197523621:TA:T | acceptor_loss | 1.0000 |
| 2:197523622:A:AC | acceptor_loss | 1.0000 |
| 2:197523622:A:AG | acceptor_gain | 1.0000 |
| 2:197523623:G:GG | acceptor_gain | 1.0000 |
| 2:197523623:G:GT | acceptor_loss | 1.0000 |
| 2:197535528:A:AG | acceptor_gain | 1.0000 |
| 2:197535529:G:GA | acceptor_gain | 1.0000 |
| 2:197535529:G:GC | acceptor_gain | 1.0000 |
| 2:197535529:GT:G | acceptor_gain | 1.0000 |
| 2:197535529:GTA:G | acceptor_gain | 1.0000 |
| 2:197535529:GTAT:G | acceptor_gain | 1.0000 |
| 2:197535529:GTATA:G | acceptor_gain | 1.0000 |
| 2:197540109:A:AG | acceptor_gain | 1.0000 |
| 2:197540110:G:GG | acceptor_gain | 1.0000 |
| 2:197540435:GAG:G | donor_gain | 1.0000 |
| 2:197548334:A:AG | acceptor_gain | 1.0000 |
| 2:197548335:G:GA | acceptor_gain | 1.0000 |
| 2:197548335:G:GG | acceptor_gain | 1.0000 |
| 2:197548335:GT:G | acceptor_gain | 1.0000 |
| 2:197550270:TCTA:T | acceptor_loss | 1.0000 |
| 2:197550272:TA:T | acceptor_loss | 1.0000 |
| 2:197550273:A:AG | acceptor_gain | 1.0000 |
| 2:197550273:AG:A | acceptor_gain | 1.0000 |
| 2:197550274:G:GA | acceptor_loss | 1.0000 |
| 2:197550274:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
1507 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:197516132:G:C | G16R | 1.000 |
| 2:197516133:G:A | G16D | 1.000 |
| 2:197523636:T:A | W25R | 1.000 |
| 2:197523636:T:C | W25R | 1.000 |
| 2:197535537:A:C | Q44P | 1.000 |
| 2:197535540:A:C | Q45P | 1.000 |
| 2:197535611:T:A | W69R | 1.000 |
| 2:197535611:T:C | W69R | 1.000 |
| 2:197535612:G:C | W69S | 1.000 |
| 2:197535613:G:C | W69C | 1.000 |
| 2:197535613:G:T | W69C | 1.000 |
| 2:197535617:T:C | Y71H | 1.000 |
| 2:197535617:T:G | Y71D | 1.000 |
| 2:197535620:G:A | E72K | 1.000 |
| 2:197535624:A:C | H73P | 1.000 |
| 2:197535630:G:C | R75T | 1.000 |
| 2:197535630:G:T | R75M | 1.000 |
| 2:197540111:G:C | R75S | 1.000 |
| 2:197540111:G:T | R75S | 1.000 |
| 2:197540113:A:C | Q76P | 1.000 |
| 2:197540118:T:C | C78R | 1.000 |
| 2:197540120:C:G | C78W | 1.000 |
| 2:197540128:T:C | L81P | 1.000 |
| 2:197540132:T:A | N82K | 1.000 |
| 2:197540132:T:G | N82K | 1.000 |
| 2:197540140:C:A | A85D | 1.000 |
| 2:197540149:T:C | L88P | 1.000 |
| 2:197540357:T:A | C92S | 1.000 |
| 2:197540357:T:C | C92R | 1.000 |
| 2:197540358:G:A | C92Y | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000030238 (2:197521807 T>A), RS1000084624 (2:197532820 C>T), RS1000153737 (2:197536496 G>T), RS1000250120 (2:197516361 C>A), RS1000308524 (2:197542764 A>G), RS1000309502 (2:197545039 A>G,T), RS1000373025 (2:197536799 T>C), RS1000408628 (2:197519442 G>A,C), RS1000409964 (2:197530725 C>T), RS1000552461 (2:197514284 C>T), RS1000606152 (2:197532667 C>T), RS1000749848 (2:197552033 G>T), RS1000793167 (2:197538778 A>G), RS1000820314 (2:197548584 C>G), RS1000861957 (2:197514775 G>A,C)
Disease associations
OMIM: gene MIM:609361 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004132_35 | Crohn’s disease | 7.000000e-08 |
| GCST004521_180 | Autism spectrum disorder or schizophrenia | 3.000000e-11 |
| GCST004521_275 | Autism spectrum disorder or schizophrenia | 7.000000e-09 |
| GCST006803_21 | Schizophrenia | 4.000000e-13 |
| GCST009600_91 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 1.000000e-08 |
| GCST009719_15 | Allergic rhinitis | 2.000000e-10 |
| GCST010698_25 | Subcortical volume (min-P) | 2.000000e-08 |
| GCST010699_24 | Brain morphology (min-P) | 1.000000e-09 |
| GCST010700_25 | Cortical thickness (MOSTest) | 2.000000e-10 |
| GCST010701_25 | Cortical surface area (MOSTest) | 2.000000e-37 |
| GCST010702_65 | Subcortical volume (MOSTest) | 1.000000e-11 |
| GCST010703_197 | Brain morphology (MOSTest) | 1.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| 1-nitropyrene | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| jinfukang | decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Cannabidiol | increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Gold | decreases expression | 1 |
| Lead | affects splicing | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Thiram | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Zinc | affects cotreatment, increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| 8-Bromo Cyclic Adenosine Monophosphate | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Aflatoxin M1 | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | increases expression | 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): allergic rhinitis, anorexia nervosa, obsessive-compulsive disorder