MOB1A
gene geneOn this page
Also known as FLJ10788MOB1FLJ11595Mob4BMats1
Summary
MOB1A (MOB kinase activator 1A, HGNC:16015) is a protein-coding gene on chromosome 2p13.1, encoding MOB kinase activator 1A (Q9H8S9). Activator of LATS1/2 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis.
The protein encoded by this gene is a component of the Hippo signaling pathway, which controls organ size and tumor growth by enhancing apoptosis. Loss of the encoded protein results in cell proliferation and cancer formation. The encoded protein is also involved in the control of microtubule stability during cytokinesis. Several transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 55233 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 21 total
- MANE Select transcript:
NM_018221
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16015 |
| Approved symbol | MOB1A |
| Name | MOB kinase activator 1A |
| Location | 2p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10788, MOB1, FLJ11595, Mob4B, Mats1 |
| Ensembl gene | ENSG00000114978 |
| Ensembl biotype | protein_coding |
| OMIM | 609281 |
| Entrez | 55233 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 7 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000396049, ENST00000463975, ENST00000488006, ENST00000494600, ENST00000495286, ENST00000497054, ENST00000882070, ENST00000882071, ENST00000882072, ENST00000925501, ENST00000925502, ENST00000925503
RefSeq mRNA: 4 — MANE Select: NM_018221
NM_001317110, NM_001317111, NM_001317112, NM_018221
CCDS: CCDS46340
Canonical transcript exons
ENST00000396049 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001813102 | 74152528 | 74156645 |
| ENSE00002465743 | 74159091 | 74159254 |
| ENSE00003480355 | 74167014 | 74167107 |
| ENSE00003530028 | 74178661 | 74178879 |
| ENSE00003574525 | 74165218 | 74165351 |
| ENSE00003617334 | 74172586 | 74172752 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 98.40.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 93.5224 / max 835.0217, expressed in 1827 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 29166 | 93.5224 | 1827 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 98.40 | gold quality |
| mononuclear cell | CL:0000842 | 98.40 | gold quality |
| leukocyte | CL:0000738 | 98.29 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 97.77 | gold quality |
| superficial temporal artery | UBERON:0001614 | 97.72 | gold quality |
| secondary oocyte | CL:0000655 | 97.54 | gold quality |
| bone marrow cell | CL:0002092 | 97.31 | gold quality |
| oocyte | CL:0000023 | 97.30 | gold quality |
| lymph node | UBERON:0000029 | 97.11 | gold quality |
| caecum | UBERON:0001153 | 97.07 | gold quality |
| vermiform appendix | UBERON:0001154 | 97.07 | gold quality |
| hair follicle | UBERON:0002073 | 96.86 | gold quality |
| bone marrow | UBERON:0002371 | 96.82 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 96.67 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 96.49 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.41 | gold quality |
| penis | UBERON:0000989 | 96.22 | gold quality |
| endometrium | UBERON:0001295 | 96.13 | gold quality |
| synovial joint | UBERON:0002217 | 96.13 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 96.03 | gold quality |
| tonsil | UBERON:0002372 | 96.02 | gold quality |
| colonic epithelium | UBERON:0000397 | 96.00 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 95.98 | gold quality |
| gingiva | UBERON:0001828 | 95.96 | gold quality |
| gingival epithelium | UBERON:0001949 | 95.92 | gold quality |
| blood | UBERON:0000178 | 95.90 | gold quality |
| endometrium epithelium | UBERON:0004811 | 95.74 | gold quality |
| upper arm skin | UBERON:0004263 | 95.65 | gold quality |
| lower lobe of lung | UBERON:0008949 | 95.63 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 95.60 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-97 | no | 1290.02 |
| E-CURD-88 | no | 3.80 |
| E-MTAB-5061 | no | 3.69 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
152 targeting MOB1A, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| 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-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
Literature-anchored findings (GeneRIF, showing 16)
- Mats1 can rescue the lethality associated with loss of Mats function in Drosophila; As Mats1 is mutated in human tumors, Mats-mediated growth inhibition and tumor suppression is likely conserved in humans (PMID:15766530)
- MATS1 mRNA expression is suppressed in tumor tissue and its low expression is associated with tumor growth, invasion and metastasis of colorectal cancer (PMID:17611689)
- hMOB1A and hMOB1B are 2 LATS-binding proteins that may function as tumor suppressors in human cancer cells. (PMID:19739119)
- Results suggest that Mob1 and the other mammalian orthologues of the mitotic exit network regulate mitotic progression by facilitating the timely mobilization of the chromosomal passenger complex to the spindle midzone. (PMID:19955215)
- Mob1A and Mob1B are needed for cell abscission and centriole re-joining after telophase and cytokinesis. (PMID:22454515)
- The RING ligase praja2 ubiquitylates and degrades Mob, a core component of NDR/LATS kinase and a positive regulator of the tumour-suppressor Hippo cascade. (PMID:23652010)
- No relationship has been found between the MOBKL1B-NS5A interaction and hepatitis C virus replication. (PMID:25031347)
- Through a comprehensive set of biochemical, biophysical, mutational and structural studies, we quantitatively assess how phosphorylation of MOB1A regulates its interaction with both MST kinases and LATS/NDR family kinases in vitro. (PMID:28373297)
- In this study, we investigated the mechanisms behind the recruitment of MST1 and MST2 kinases to MOB1, which facilitate signal transmission in the Hippo pathway by bringing the MST1 and MST2 kinases in close vicinity to their substrates, the LATS family kinases. (PMID:28373298)
- validated the functional importance of an identified interaction network by characterizing a distinct novel interaction between PTPN5 and Mob1a. (PMID:28675297)
- MOB1 binds differently to the NDR2 and LATS1 kinases.MOB1 interaction with Hippo and MST protein is not essential for development and tissue growth control. (PMID:28947795)
- The Legionella kinase LegK7 exploits the Hippo pathway scaffold protein MOB1A for allostery and substrate phosphorylation. (PMID:32513747)
- RNA-binding protein Musashi2 regulates Hippo signaling via SAV1 and MOB1 in pancreatic cancer. (PMID:32780197)
- Circular RNA circCCDC85A inhibits breast cancer progression via acting as a miR-550a-5p sponge to enhance MOB1A expression. (PMID:34983617)
- Oxidative stress-CBP axis modulates MOB1 acetylation and activates the Hippo signaling pathway. (PMID:35349706)
- CAF-derived exosomal WEE2-AS1 facilitates colorectal cancer progression via promoting degradation of MOB1A to inhibit the Hippo pathway. (PMID:36123327)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mob1a | ENSDARG00000102320 |
| mus_musculus | Mob1a | ENSMUSG00000043131 |
| rattus_norvegicus | Mob1a | ENSRNOG00000059474 |
| rattus_norvegicus | Mob1a-ps1 | ENSRNOG00000065539 |
| drosophila_melanogaster | mats | FBGN0038965 |
Paralogs (6): MOB4 (ENSG00000115540), MOB3B (ENSG00000120162), MOB3C (ENSG00000142961), MOB3A (ENSG00000172081), MOB1B (ENSG00000173542), MOB2 (ENSG00000182208)
Protein
Protein identifiers
MOB kinase activator 1A — Q9H8S9 (reviewed: Q9H8S9)
Alternative names: Mob1 alpha, Mob1 homolog 1B, Mps one binder kinase activator-like 1B
All UniProt accessions (1): Q9H8S9
UniProt curated annotations — full annotation on UniProt →
Function. Activator of LATS1/2 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Stimulates the kinase activity of STK38 and STK38L. Acts cooperatively with STK3/MST2 to activate STK38.
Subunit / interactions. Binds STK38 and STK38L. Interacts with LATS1 and LATS2. Forms a tripartite complex with STK38 and STK3/MST2.
Tissue specificity. Adrenal gland, bone marrow, brain, placenta, prostate, salivary gland, skeletal muscle, testis, thymus, thyroid gland, heart, spinal cord, fetal brain and fetal liver.
Post-translational modifications. Phosphorylated by STK3/MST2 and STK4/MST1 and this phosphorylation enhances its binding to LATS1.
Miscellaneous. May be due to an intron retention.
Similarity. Belongs to the MOB1/phocein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H8S9-1 | 1 | yes |
| Q9H8S9-2 | 2 |
RefSeq proteins (4): NP_001304039, NP_001304040, NP_001304041, NP_060691* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005301 | MOB_kinase_act_fam | Family |
| IPR036703 | MOB_kinase_act_sf | Homologous_superfamily |
Pfam: PF03637
UniProt features (35 total): helix 11, modified residue 5, strand 5, turn 4, binding site 4, splice variant 2, sequence conflict 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
11 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4J1V | X-RAY DIFFRACTION | 1.95 |
| 1PI1 | X-RAY DIFFRACTION | 2 |
| 4JIZ | X-RAY DIFFRACTION | 2.1 |
| 5XQZ | X-RAY DIFFRACTION | 2.1 |
| 5BRK | X-RAY DIFFRACTION | 2.3 |
| 5TWG | X-RAY DIFFRACTION | 2.3 |
| 5TWH | X-RAY DIFFRACTION | 2.5 |
| 6MCP | X-RAY DIFFRACTION | 2.5 |
| 6MCQ | X-RAY DIFFRACTION | 2.57 |
| 5BRM | X-RAY DIFFRACTION | 2.65 |
| 5TWF | X-RAY DIFFRACTION | 3.14 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H8S9-F1 | 88.59 | 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.
Ligand- & substrate-binding residues (4): 79; 84; 161; 166
Post-translational modifications (5): 181, 2, 12, 35, 74
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-2028269 | Signaling by Hippo |
| R-HSA-162582 | Signal Transduction |
MSigDB gene sets: 181 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_HIPPO_SIGNALING, PUJANA_CHEK2_PCC_NETWORK, GOMF_KINASE_ACTIVATOR_ACTIVITY, MARTINEZ_RB1_TARGETS_UP, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, SENESE_HDAC1_TARGETS_UP, MULLIGHAN_NPM1_SIGNATURE_3_DN, MARTINEZ_RB1_AND_TP53_TARGETS_UP, MARSON_BOUND_BY_FOXP3_UNSTIMULATED
GO Biological Process (1): hippo signaling (GO:0035329)
GO Molecular Function (4): protein kinase activator activity (GO:0030295), protein serine/threonine kinase activator activity (GO:0043539), metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| intracellular signal transduction | 1 |
| protein kinase activity | 1 |
| kinase activator activity | 1 |
| protein kinase regulator activity | 1 |
| protein serine/threonine kinase activity | 1 |
| protein kinase activator activity | 1 |
| cation binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1436 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MOB1A | LATS1 | O95835 | 994 |
| MOB1A | SAV1 | Q9H4B6 | 918 |
| MOB1A | LATS2 | Q9NRM7 | 914 |
| MOB1A | STK4 | Q13043 | 904 |
| MOB1A | STK38L | Q9Y2H1 | 849 |
| MOB1A | STK24 | Q9Y6E0 | 803 |
| MOB1A | GFER | P55789 | 765 |
| MOB1A | STK38 | Q15208 | 729 |
| MOB1A | WWTR1 | Q9GZV5 | 662 |
| MOB1A | TEAD1 | P28347 | 654 |
| MOB1A | YAP1 | P46937 | 641 |
| MOB1A | NF2 | P35240 | 592 |
| MOB1A | AMOT | Q4VCS5 | 546 |
| MOB1A | WWC1 | Q8IX03 | 545 |
| MOB1A | VGLL4 | Q14135 | 534 |
IntAct
122 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STK38L | MOB2 | psi-mi:“MI:0914”(association) | 0.910 |
| MOB1A | STK38L | psi-mi:“MI:0915”(physical association) | 0.900 |
| MOB1B | LATS1 | psi-mi:“MI:0914”(association) | 0.840 |
| MOB1A | STK4 | psi-mi:“MI:0915”(physical association) | 0.750 |
| LATS2 | MOB1A | psi-mi:“MI:0915”(physical association) | 0.740 |
| MOB1A | LATS2 | psi-mi:“MI:0915”(physical association) | 0.740 |
| LATS2 | MOB1A | psi-mi:“MI:0914”(association) | 0.740 |
| MOB1A | TDO2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KANK2 | MOB1A | psi-mi:“MI:0915”(physical association) | 0.720 |
| SEPTIN3 | MOB1A | psi-mi:“MI:0915”(physical association) | 0.720 |
| MOB1A | KANK2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MOB1A | SEPTIN3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TDO2 | MOB1A | psi-mi:“MI:0915”(physical association) | 0.720 |
| STK38 | MOB2 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| KXD1 | MOB1A | psi-mi:“MI:0915”(physical association) | 0.670 |
| LATS1 | MOB1A | psi-mi:“MI:0915”(physical association) | 0.670 |
| MOB1A | LATS1 | psi-mi:“MI:0914”(association) | 0.670 |
BioGRID (193): MOB1A (Two-hybrid), MOB1A (Two-hybrid), MOB1A (Two-hybrid), SEPT3 (Two-hybrid), CMTM3 (Two-hybrid), FAM9B (Two-hybrid), LATS2 (Affinity Capture-Western), MOB1A (Affinity Capture-MS), MOB1A (Affinity Capture-MS), KXD1 (Two-hybrid), MOB1A (Two-hybrid), MOB1A (Affinity Capture-MS), MOB1A (Affinity Capture-MS), MOB1A (Affinity Capture-Western), MOB1A (Affinity Capture-Western)
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: F4K494, F4K495, O74558, O94360, P40484, P43563, Q29RK9, Q2LZ59, Q2WBN3, Q3T1J9, Q54BM4, Q54CR8, Q54QV0, Q54XJ0, Q58D63, Q5ABC6, Q5EAA4, Q5R5Z0, Q5RAE0, Q70IA6, Q70IA8, Q7L9L4, Q86TA1, Q8BJG4, Q8BPB0, Q8BSU7, Q8GYX0, Q8IQG1, Q8VE04, Q8VI63, Q921Y0, Q949G5, Q95RA8, Q96BX8, Q9FHI1, Q9H8S9, Q9P601, Q9VL13
SIGNOR signaling
13 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MOB1A | up-regulates | LATS1 | binding |
| MOB1A | up-regulates | LATS2 | binding |
| STK3 | up-regulates | MOB1A | phosphorylation |
| STK4 | up-regulates | MOB1A | phosphorylation |
| MOB1A | up-regulates | LATS1/2 | binding |
| STK3/4 | up-regulates | MOB1A | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 61 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 |
|---|---|---|---|
| Signaling by Hippo | 6 | 90.6× | 9e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| hippo signaling | 6 | 78.5× | 6e-08 |
| keratinocyte differentiation | 6 | 26.6× | 3e-05 |
| negative regulation of canonical Wnt signaling pathway | 5 | 10.5× | 5e-03 |
| protein phosphorylation | 7 | 8.5× | 2e-03 |
| positive regulation of apoptotic process | 7 | 7.1× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
21 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 15 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
989 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:74156571:T:C | donor_gain | 1.0000 |
| 2:74165211:AACT:A | donor_loss | 1.0000 |
| 2:74165212:ACTC:A | donor_loss | 1.0000 |
| 2:74165213:C:CG | donor_loss | 1.0000 |
| 2:74165215:CAC:C | donor_loss | 1.0000 |
| 2:74165216:ACCAA:A | donor_loss | 1.0000 |
| 2:74165217:CCAAT:C | donor_gain | 1.0000 |
| 2:74165347:CATAT:C | acceptor_gain | 1.0000 |
| 2:74165352:C:CC | acceptor_gain | 1.0000 |
| 2:74167010:GTA:G | donor_loss | 1.0000 |
| 2:74167011:TA:T | donor_loss | 1.0000 |
| 2:74167012:ACC:A | donor_loss | 1.0000 |
| 2:74167013:CCTCG:C | donor_loss | 1.0000 |
| 2:74167105:CAG:C | acceptor_gain | 1.0000 |
| 2:74167108:C:CC | acceptor_gain | 1.0000 |
| 2:74172579:AACTT:A | donor_loss | 1.0000 |
| 2:74172580:ACTTA:A | donor_loss | 1.0000 |
| 2:74172583:TA:T | donor_loss | 1.0000 |
| 2:74172584:A:AC | donor_gain | 1.0000 |
| 2:74172585:C:CT | donor_gain | 1.0000 |
| 2:74172585:CT:C | donor_gain | 1.0000 |
| 2:74172585:CTG:C | donor_gain | 1.0000 |
| 2:74172585:CTGTT:C | donor_gain | 1.0000 |
| 2:74172656:T:TA | donor_gain | 1.0000 |
| 2:74172748:TGCTG:T | acceptor_gain | 1.0000 |
| 2:74172750:CTG:C | acceptor_gain | 1.0000 |
| 2:74172751:TG:T | acceptor_gain | 1.0000 |
| 2:74172752:GCTG:G | acceptor_loss | 1.0000 |
| 2:74172753:C:CC | acceptor_gain | 1.0000 |
| 2:74172754:T:C | acceptor_loss | 1.0000 |
AlphaMissense
1452 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:74156608:A:G | L204P | 1.000 |
| 2:74156635:A:G | L195P | 1.000 |
| 2:74159120:A:G | S182P | 1.000 |
| 2:74159128:A:G | L179P | 1.000 |
| 2:74159185:G:T | A160D | 1.000 |
| 2:74159191:A:T | V158D | 1.000 |
| 2:74159193:C:A | R157S | 1.000 |
| 2:74159193:C:G | R157S | 1.000 |
| 2:74159194:C:A | R157M | 1.000 |
| 2:74159194:C:G | R157T | 1.000 |
| 2:74159200:A:G | L155P | 1.000 |
| 2:74159204:G:T | R154S | 1.000 |
| 2:74159244:A:C | F140L | 1.000 |
| 2:74159244:A:T | F140L | 1.000 |
| 2:74159246:A:G | F140L | 1.000 |
| 2:74165229:G:T | P133H | 1.000 |
| 2:74165232:A:G | F132S | 1.000 |
| 2:74165250:A:G | L126P | 1.000 |
| 2:74165259:T:G | Q123P | 1.000 |
| 2:74165266:A:G | W121R | 1.000 |
| 2:74165266:A:T | W121R | 1.000 |
| 2:74165274:A:C | L118W | 1.000 |
| 2:74165287:A:G | Y114H | 1.000 |
| 2:74165335:C:G | A98P | 1.000 |
| 2:74165336:C:A | W97C | 1.000 |
| 2:74165336:C:G | W97C | 1.000 |
| 2:74165337:C:G | W97S | 1.000 |
| 2:74165338:A:G | W97R | 1.000 |
| 2:74165338:A:T | W97R | 1.000 |
| 2:74165344:A:C | Y95D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000021936 (2:74156328 A>G), RS1000075578 (2:74163212 A>G), RS1000096307 (2:74154839 G>C), RS1000175767 (2:74156985 T>C), RS1000209295 (2:74175437 A>G), RS1000227905 (2:74157414 T>A), RS1000247456 (2:74174047 C>T), RS1000469696 (2:74162858 T>A,C), RS1000552196 (2:74175832 T>C), RS1000612664 (2:74179239 G>T), RS1000622734 (2:74179522 A>G), RS1000871054 (2:74167686 G>A), RS1000893456 (2:74179751 T>TC), RS1000899455 (2:74162633 A>C), RS1000923406 (2:74168003 G>C)
Disease associations
OMIM: gene MIM:609281 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004899_10 | Gestational age at birth (maternal effect) | 2.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005112 | gestational age |
| EFO:0005939 | parental genotype effect measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, affects expression | 2 |
| Ozone | increases oxidation, increases abundance, affects expression, affects cotreatment | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid | affects methylation, increases abundance | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| CD 437 | decreases expression | 1 |
| motexafin gadolinium | affects reaction, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| 3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid | decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| jinfukang | decreases expression | 1 |
| picoxystrobin | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Cannabinoids | affects methylation, increases abundance | 1 |
| Dinitrochlorobenzene | affects binding | 1 |
| Ivermectin | decreases expression | 1 |
| Mercuric Chloride | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Nickel | increases expression | 1 |
| Piroxicam | decreases expression | 1 |
| Rotenone | increases expression | 1 |
Cellosaurus cell lines
4 cell lines: 3 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D7V8 | Ubigene A-549 MOB1A KO | Cancer cell line | Male |
| CVCL_D8QR | Ubigene HCT 116 MOB1A KO | Cancer cell line | Male |
| CVCL_D9KK | Ubigene HEK293 MOB1A KO | Transformed cell line | Female |
| CVCL_E0I9 | Ubigene HeLa MOB1A KO | Cancer cell line | Female |
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.