LSM14B
gene geneOn this page
Also known as FT005bA11M20.3FLJ25473LSM13RAP55B
Summary
LSM14B (LSM family member 14B, HGNC:15887) is a protein-coding gene on chromosome 20q13.33, encoding Protein LSM14 homolog B (Q9BX40). mRNA-binding protein essential for female fertility, oocyte meiotic maturation and the assembly of MARDO (mitochondria-associated ribonucleoprotein domain), a membraneless compartment that stores maternal mRNAs in oocytes.
Enables RNA binding activity. Predicted to be involved in several processes, including maternal mRNA clearance; meiotic cell cycle process involved in oocyte maturation; and ovarian follicle development. Predicted to be located in cytoplasmic ribonucleoprotein granule. Predicted to be part of ribonucleoprotein complex.
Source: NCBI Gene 149986 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 53 total
- MANE Select transcript:
NM_144703
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15887 |
| Approved symbol | LSM14B |
| Name | LSM family member 14B |
| Location | 20q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FT005, bA11M20.3, FLJ25473, LSM13, RAP55B |
| Ensembl gene | ENSG00000149657 |
| Ensembl biotype | protein_coding |
| OMIM | 620689 |
| Entrez | 149986 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 8 protein_coding
ENST00000279068, ENST00000279069, ENST00000361670, ENST00000370915, ENST00000400318, ENST00000886858, ENST00000924405, ENST00000924406
RefSeq mRNA: 1 — MANE Select: NM_144703
NM_144703
CCDS: CCDS46626
Canonical transcript exons
ENST00000279068 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000991849 | 62129785 | 62129952 |
| ENSE00000991850 | 62130219 | 62130296 |
| ENSE00001335295 | 62134163 | 62135374 |
| ENSE00001747199 | 62133290 | 62133475 |
| ENSE00001813884 | 62122475 | 62122793 |
| ENSE00002711126 | 62130530 | 62130691 |
| ENSE00003575228 | 62124617 | 62124780 |
| ENSE00003674050 | 62126304 | 62126439 |
| ENSE00003786220 | 62131356 | 62131506 |
Expression profiles
Bgee: expression breadth ubiquitous, 226 present calls, max score 98.06.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 59.8453 / max 295.2209, expressed in 1813 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 185699 | 59.8121 | 1813 |
| 185701 | 0.0226 | 3 |
| 185700 | 0.0106 | 3 |
Top tissues by expression
269 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 98.06 | gold quality |
| cortical plate | UBERON:0005343 | 96.77 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.27 | gold quality |
| male germ cell | CL:0000015 | 95.98 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.09 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.02 | gold quality |
| ventricular zone | UBERON:0003053 | 94.99 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.80 | gold quality |
| right testis | UBERON:0004534 | 94.56 | gold quality |
| left testis | UBERON:0004533 | 94.50 | gold quality |
| cerebellum | UBERON:0002037 | 93.51 | gold quality |
| prefrontal cortex | UBERON:0000451 | 93.14 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.12 | gold quality |
| gastrocnemius | UBERON:0001388 | 92.88 | gold quality |
| right ovary | UBERON:0002118 | 92.39 | gold quality |
| left ovary | UBERON:0002119 | 92.38 | gold quality |
| testis | UBERON:0000473 | 92.25 | gold quality |
| muscle of leg | UBERON:0001383 | 92.22 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.03 | gold quality |
| apex of heart | UBERON:0002098 | 91.87 | gold quality |
| monocyte | CL:0000576 | 91.83 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 91.79 | gold quality |
| cingulate cortex | UBERON:0003027 | 91.73 | gold quality |
| mononuclear cell | CL:0000842 | 91.56 | gold quality |
| leukocyte | CL:0000738 | 91.36 | gold quality |
| body of uterus | UBERON:0009853 | 91.23 | gold quality |
| skin of leg | UBERON:0001511 | 91.13 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.11 | gold quality |
| skin of abdomen | UBERON:0001416 | 90.83 | gold quality |
| heart left ventricle | UBERON:0002084 | 90.24 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 2.99 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
71 targeting LSM14B, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-489-3P | 99.80 | 66.46 | 839 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-519A-3P | 99.67 | 71.67 | 1868 |
| HSA-MIR-519B-3P | 99.67 | 71.67 | 1868 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lsm14b | ENSDARG00000025386 |
| mus_musculus | Lsm14b | ENSMUSG00000039108 |
| rattus_norvegicus | Lsm14b | ENSRNOG00000054557 |
| drosophila_melanogaster | tral | FBGN0041775 |
| caenorhabditis_elegans | car-1 | WBGENE00012484 |
Paralogs (1): LSM14A (ENSG00000257103)
Protein
Protein identifiers
Protein LSM14 homolog B — Q9BX40 (reviewed: Q9BX40)
Alternative names: RNA-associated protein 55B
All UniProt accessions (5): Q9BX40, A0A0C4DFV2, Q5TBP9, Q5TBQ0, Q5TBQ1
UniProt curated annotations — full annotation on UniProt →
Function. mRNA-binding protein essential for female fertility, oocyte meiotic maturation and the assembly of MARDO (mitochondria-associated ribonucleoprotein domain), a membraneless compartment that stores maternal mRNAs in oocytes. Ensures the proper accumulation and clearance of mRNAs essential for oocyte meiotic maturation and the normal progression from Meiosis I to Meiosis II in oocytes. Promotes the translation of some oogenesis-related mRNAs. Regulates the expression and/or localization of some key P-body proteins in oocytes. Essential for the assembly of the primordial follicle in the ovary.
Subunit / interactions. Component of a ribonucleoprotein (RNP) complex. Interacts with DDX6.
Subcellular location. Cytoplasm. Cytoplasmic ribonucleoprotein granule.
Similarity. Belongs to the LSM14 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BX40-1 | 1 | yes |
| Q9BX40-2 | 2 | |
| Q9BX40-3 | 3 |
RefSeq proteins (1): NP_653304* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR010920 | LSM_dom_sf | Homologous_superfamily |
| IPR019050 | FDF_dom | Domain |
| IPR025609 | Lsm14-like_N | Domain |
| IPR025761 | FFD_box | Domain |
| IPR025762 | DFDF | Domain |
| IPR025768 | TFG_box | Domain |
| IPR047575 | Sm | Domain |
Pfam: PF09532, PF12701
UniProt features (28 total): modified residue 8, splice variant 5, compositionally biased region 3, sequence conflict 3, domain 2, region of interest 2, short sequence motif 2, initiator methionine 1, chain 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BX40-F1 | 63.00 | 0.19 |
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 (9): 2, 106, 115, 154, 165, 329, 349, 351, 248
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 132 (showing top):
GOZGIT_ESR1_TARGETS_DN, GOBP_OOGENESIS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, PATIL_LIVER_CANCER, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_OVARIAN_FOLLICLE_DEVELOPMENT, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, GOBP_CELL_MATURATION, GOBP_ORGANELLE_ASSEMBLY, GOBP_FEMALE_SEX_DIFFERENTIATION, MCBRYAN_PUBERTAL_BREAST_5_6WK_UP, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_OOCYTE_MATURATION
GO Biological Process (8): ovarian follicle development (GO:0001541), regulation of translation (GO:0006417), oogenesis (GO:0048477), membraneless organelle assembly (GO:0140694), maternal mRNA clearance (GO:0141065), meiotic cell cycle process involved in oocyte maturation (GO:1903537), cell differentiation (GO:0030154), meiotic cell cycle (GO:0051321)
GO Molecular Function (3): RNA binding (GO:0003723), mRNA binding (GO:0003729), protein binding (GO:0005515)
GO Cellular Component (3): cytoplasmic ribonucleoprotein granule (GO:0036464), ribonucleoprotein complex (GO:1990904), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| female gonad development | 1 |
| anatomical structure development | 1 |
| translation | 1 |
| post-transcriptional regulation of gene expression | 1 |
| regulation of protein metabolic process | 1 |
| germ cell development | 1 |
| female gamete generation | 1 |
| organelle assembly | 1 |
| mRNA catabolic process | 1 |
| maternal-to-zygotic transition of gene expression | 1 |
| oocyte maturation | 1 |
| meiotic cell cycle process | 1 |
| cellular developmental process | 1 |
| cell cycle | 1 |
| sexual reproduction | 1 |
| reproductive process | 1 |
| meiotic nuclear division | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| ribonucleoprotein granule | 1 |
| protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1464 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LSM14B | EIF4E1B | A6NMX2 | 787 |
| LSM14B | PATL2 | C9JE40 | 786 |
| LSM14B | EDC3 | Q96F86 | 784 |
| LSM14B | EIF4ENIF1 | Q9NRA8 | 725 |
| LSM14B | LSM1 | O15116 | 645 |
| LSM14B | DDX6 | P26196 | 644 |
| LSM14B | PABPC1L | Q4VXU2 | 616 |
| LSM14B | CPEB1 | Q9BZB8 | 609 |
| LSM14B | ARHGEF10L | Q9HCE6 | 596 |
| LSM14B | PATL1 | Q86TB9 | 586 |
| LSM14B | NUFIP2 | Q7Z417 | 575 |
| LSM14B | LSM12 | Q3MHD2 | 545 |
| LSM14B | LSM4 | Q9Y4Z0 | 534 |
| LSM14B | XRN1 | Q8IZH2 | 527 |
| LSM14B | DCP1B | Q8IZD4 | 526 |
IntAct
76 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DDX6 | RPS3 | psi-mi:“MI:0915”(physical association) | 0.690 |
| C1QBP | DDX6 | psi-mi:“MI:0915”(physical association) | 0.620 |
| DDX6 | RPLP0 | psi-mi:“MI:0915”(physical association) | 0.620 |
| DDX6 | HSP90AA1 | psi-mi:“MI:0915”(physical association) | 0.540 |
| SMC1A | PDS5B | psi-mi:“MI:0914”(association) | 0.530 |
| MAPT | KIF2A | psi-mi:“MI:0914”(association) | 0.530 |
| LSM14B | SEMG1 | psi-mi:“MI:0914”(association) | 0.530 |
| BHLHA15 | RPLP0 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC3A | ZZEF1 | psi-mi:“MI:0914”(association) | 0.530 |
| BHLHA15 | YBX3 | psi-mi:“MI:0914”(association) | 0.530 |
| DDX6 | MCRIP1 | psi-mi:“MI:0914”(association) | 0.510 |
| C1QBP | RPS3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EIF4ENIF1 | RPLP0 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EIF4ENIF1 | PABPC1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EIF4ENIF1 | MCRIP1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LSM14B | NCBP3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PHF8 | MACROH2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| HUWE1 | NCOA4 | psi-mi:“MI:0914”(association) | 0.350 |
| Iffo2 | TAGLN2 | psi-mi:“MI:0914”(association) | 0.350 |
| C1qbp | psi-mi:“MI:0914”(association) | 0.350 | |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | SEC16A | psi-mi:“MI:0914”(association) | 0.350 |
| NS1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | C11orf98 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC3A | ZNF593 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (146): SEMG2 (Affinity Capture-MS), SEMG1 (Affinity Capture-MS), SIRT3 (Affinity Capture-MS), ICK (Affinity Capture-MS), LSM14B (Affinity Capture-MS), LSM14B (Affinity Capture-MS), LSM14B (Affinity Capture-MS), LSM14B (Proximity Label-MS), LSM14B (Affinity Capture-MS), LSM14B (Affinity Capture-MS), LSM14B (Affinity Capture-MS), LSM14B (Affinity Capture-MS), LSM14B (Affinity Capture-MS), LSM14B (Affinity Capture-MS), LSM14B (Affinity Capture-MS)
ESM2 similar proteins: A0A8M2, A0JMU8, A1L1K8, A5D7H5, B9DFV2, E1BUG7, F4JP52, G1SW77, G3X9Z4, O08719, O15234, O94913, Q0V898, Q1LVV0, Q2T9I5, Q32NW2, Q3MHF8, Q498K9, Q566L7, Q5CZI8, Q5JVS0, Q5R4R4, Q5T8P6, Q5TYQ8, Q659C4, Q68FI1, Q6AXS5, Q6NVR8, Q6NZN0, Q6PKG0, Q8AVJ2, Q8CGC4, Q8K2F8, Q8K3W3, Q8K3X0, Q8NC51, Q8ND56, Q91W18, Q91W39, Q96D71
Diamond homologs: A0A8M2, P45978, Q3MHF8, Q498K9, Q566L7, Q5R4R4, Q68FI1, Q6NVR8, Q8AVJ2, Q8CGC4, Q8K2F8, Q8ND56, Q9BX40, Q9C658, Q9FH77, Q9HGL3, Q9XW17, Q9YH12
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 90 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of translation | 7 | 18.1× | 7e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
53 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1859 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:62122789:CAAAG:C | donor_loss | 1.0000 |
| 20:62122790:AAAGG:A | donor_loss | 1.0000 |
| 20:62122791:AAGGT:A | donor_loss | 1.0000 |
| 20:62122792:AGG:A | donor_loss | 1.0000 |
| 20:62122793:GGTAG:G | donor_loss | 1.0000 |
| 20:62124613:T:G | acceptor_gain | 1.0000 |
| 20:62124614:A:AG | acceptor_gain | 1.0000 |
| 20:62124614:AAGT:A | acceptor_gain | 1.0000 |
| 20:62124615:A:G | acceptor_gain | 1.0000 |
| 20:62124616:GT:G | acceptor_gain | 1.0000 |
| 20:62124616:GTGA:G | acceptor_gain | 1.0000 |
| 20:62124777:TCAGG:T | donor_loss | 1.0000 |
| 20:62124778:CAGGT:C | donor_loss | 1.0000 |
| 20:62124779:AGG:A | donor_loss | 1.0000 |
| 20:62124780:GGT:G | donor_loss | 1.0000 |
| 20:62124781:G:C | donor_loss | 1.0000 |
| 20:62124781:G:GG | donor_gain | 1.0000 |
| 20:62129950:GCG:G | donor_gain | 1.0000 |
| 20:62129953:G:GG | donor_gain | 1.0000 |
| 20:62131351:T:TA | acceptor_gain | 1.0000 |
| 20:62131354:A:AG | acceptor_gain | 1.0000 |
| 20:62131354:AGAT:A | acceptor_gain | 1.0000 |
| 20:62131355:G:GA | acceptor_gain | 1.0000 |
| 20:62131355:GA:G | acceptor_gain | 1.0000 |
| 20:62131355:GAT:G | acceptor_gain | 1.0000 |
| 20:62131355:GATG:G | acceptor_gain | 1.0000 |
| 20:62131355:GATGA:G | acceptor_gain | 1.0000 |
| 20:62131504:CAGGT:C | donor_loss | 1.0000 |
| 20:62131506:GGTG:G | donor_loss | 1.0000 |
| 20:62131507:G:GA | donor_loss | 1.0000 |
AlphaMissense
2512 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:62122697:G:C | G11R | 1.000 |
| 20:62122698:G:A | G11D | 1.000 |
| 20:62122698:G:T | G11V | 1.000 |
| 20:62122707:T:A | I14N | 1.000 |
| 20:62122707:T:C | I14T | 1.000 |
| 20:62122707:T:G | I14S | 1.000 |
| 20:62122713:T:A | L16H | 1.000 |
| 20:62122713:T:C | L16P | 1.000 |
| 20:62122713:T:G | L16R | 1.000 |
| 20:62122718:T:C | S18P | 1.000 |
| 20:62122719:C:A | S18Y | 1.000 |
| 20:62122719:C:T | S18F | 1.000 |
| 20:62122724:G:C | A20P | 1.000 |
| 20:62122733:C:A | R23S | 1.000 |
| 20:62122733:C:G | R23G | 1.000 |
| 20:62122733:C:T | R23C | 1.000 |
| 20:62122734:G:A | R23H | 1.000 |
| 20:62122734:G:C | R23P | 1.000 |
| 20:62122736:T:A | Y24N | 1.000 |
| 20:62122736:T:C | Y24H | 1.000 |
| 20:62122736:T:G | Y24D | 1.000 |
| 20:62122737:A:C | Y24S | 1.000 |
| 20:62122737:A:G | Y24C | 1.000 |
| 20:62122742:G:A | G26S | 1.000 |
| 20:62122742:G:C | G26R | 1.000 |
| 20:62122742:G:T | G26C | 1.000 |
| 20:62122743:G:A | G26D | 1.000 |
| 20:62122743:G:C | G26A | 1.000 |
| 20:62122743:G:T | G26V | 1.000 |
| 20:62122748:C:T | L28F | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000089661 (20:62123089 GC>G), RS1000372247 (20:62120873 C>T), RS1000460761 (20:62134694 C>T), RS1000561775 (20:62130967 C>T), RS1000635150 (20:62131261 G>C), RS1000689037 (20:62122151 C>T), RS1000702819 (20:62127775 A>G), RS1000765343 (20:62135587 T>C), RS1001108469 (20:62125273 G>C), RS1001146817 (20:62122050 G>A), RS1001197566 (20:62135794 A>T), RS1001477858 (20:62125018 C>T), RS1001590950 (20:62133983 C>T), RS1001620457 (20:62134199 T>A), RS1001762031 (20:62131340 C>T)
Disease associations
OMIM: gene MIM:620689 | 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 |
|---|---|---|
| GCST008403_15 | Arterial stiffness index | 7.000000e-06 |
| GCST90011900_12 | Serum alkaline phosphatase levels | 2.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004517 | arterial stiffness measurement |
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression | 3 |
| methylmercuric chloride | increases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| GSK-J4 | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| geldanamycin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| arsenite | decreases reaction, affects binding | 1 |
| sodium arsenite | increases expression, increases abundance | 1 |
| coumarin | decreases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| monomethylarsonous acid | 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 |
| torcetrapib | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| MT19c compound | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methotrexate | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | increases expression | 1 |
| Thimerosal | 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.