SYNJ2BP
gene geneOn this page
Also known as Arip2
Summary
SYNJ2BP (synaptojanin 2 binding protein, HGNC:18955) is a protein-coding gene on chromosome 14q24.2, encoding Synaptojanin-2-binding protein (P57105). Regulates endocytosis of activin type 2 receptor kinases through the Ral/RALBP1-dependent pathway and may be involved in suppression of activin-induced signal transduction.
Predicted to enable type II activin receptor binding activity. Involved in several processes, including negative regulation of endothelial cell migration; negative regulation of sprouting angiogenesis; and regulation of signal transduction. Located in mitochondrial outer membrane.
Source: NCBI Gene 55333 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 4 total
- MANE Select transcript:
NM_018373
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18955 |
| Approved symbol | SYNJ2BP |
| Name | synaptojanin 2 binding protein |
| Location | 14q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Arip2 |
| Ensembl gene | ENSG00000213463 |
| Ensembl biotype | protein_coding |
| OMIM | 609411 |
| Entrez | 55333 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000256366, ENST00000554216, ENST00000863002, ENST00000863003, ENST00000863004, ENST00000863005, ENST00000936942
RefSeq mRNA: 1 — MANE Select: NM_018373
NM_018373
CCDS: CCDS9803
Canonical transcript exons
ENST00000256366 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000658851 | 70388470 | 70388606 |
| ENSE00000807864 | 70366499 | 70373131 |
| ENSE00002533202 | 70416900 | 70417090 |
| ENSE00003584628 | 70375676 | 70375771 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 96.94.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.3357 / max 188.6881, expressed in 1723 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 143916 | 20.3357 | 1723 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| renal medulla | UBERON:0000362 | 96.94 | gold quality |
| cardia of stomach | UBERON:0001162 | 96.77 | gold quality |
| body of tongue | UBERON:0011876 | 95.49 | gold quality |
| pylorus | UBERON:0001166 | 95.24 | gold quality |
| saphenous vein | UBERON:0007318 | 95.07 | gold quality |
| biceps brachii | UBERON:0001507 | 94.81 | gold quality |
| jejunum | UBERON:0002115 | 94.79 | gold quality |
| vena cava | UBERON:0004087 | 94.78 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 94.61 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 94.52 | gold quality |
| urethra | UBERON:0000057 | 94.47 | gold quality |
| oocyte | CL:0000023 | 94.05 | gold quality |
| jejunal mucosa | UBERON:0000399 | 93.76 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 93.67 | gold quality |
| heart right ventricle | UBERON:0002080 | 93.51 | gold quality |
| superior surface of tongue | UBERON:0007371 | 92.55 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 92.43 | gold quality |
| nasopharynx | UBERON:0001728 | 92.41 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 92.23 | gold quality |
| vastus lateralis | UBERON:0001379 | 92.16 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 92.08 | gold quality |
| tongue | UBERON:0001723 | 92.02 | gold quality |
| seminal vesicle | UBERON:0000998 | 91.88 | gold quality |
| pericardium | UBERON:0002407 | 91.86 | gold quality |
| duodenum | UBERON:0002114 | 91.76 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 91.60 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 91.56 | gold quality |
| myocardium | UBERON:0002349 | 91.52 | gold quality |
| cauda epididymis | UBERON:0004360 | 91.38 | gold quality |
| visceral pleura | UBERON:0002401 | 91.24 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 12.26 |
| E-GEOD-111727 | no | 1165.45 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
252 targeting SYNJ2BP, 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| 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-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
Literature-anchored findings (GeneRIF, showing 8)
- These results suggest that ARIP2 is a putative growth-promoting factor involved in breast tumorigenesis and tumor development. (PMID:19349195)
- Synaptojanin-2 binding protein stabilizes the Notch ligands DLL1 and DLL4 and inhibits sprouting angiogenesis. (PMID:24025447)
- Ubiquilins are a family of chaperones for cytosolically exposed transmembrane domains and use ubiquitin to triage clients, like Omp25, for degradation via coordinated intra- and intermolecular interactions. (PMID:27345149)
- Data found that SYNJ2BP was decreased in hepatocellular carcinoma (HCC) tissues and cell lines and provide evidence that SYNJ2BP may act as a tumor suppressor during HCC development activating DLL4 pathway. (PMID:27440153)
- The increased ARIP2 in the LPS-activated macrophages may play an anti-inflammatory role via inhibiting the production of pro-inflammatory cytokines by feedback regulation, which is related to the inhibition of CD14 expression on macrophages. (PMID:28871189)
- The mitochondrial outer membrane protein SYNJ2BP interacts with the cell adhesion molecule TMIGD1 and can recruit it to mitochondria. (PMID:32303178)
- The PDZ Domain Protein SYNJ2BP Regulates GRK-Dependent Sst2A Phosphorylation and Downstream MAPK Signaling. (PMID:33313679)
- SYNJ2BP ameliorates intervertebral disc degeneration by facilitating mitochondria-associated endoplasmic reticulum membrane formation and mitochondrial Zn[2+] homeostasis. (PMID:38158052)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | synj2bp | ENSDARG00000028321 |
| mus_musculus | Synj2bp | ENSMUSG00000090935 |
| rattus_norvegicus | Synj2bp | ENSRNOG00000006399 |
Paralogs (2): COX16 (ENSG00000133983), KIAA1614 (ENSG00000135835)
Protein
Protein identifiers
Synaptojanin-2-binding protein — P57105 (reviewed: P57105)
Alternative names: Mitochondrial outer membrane protein 25
All UniProt accessions (1): P57105
UniProt curated annotations — full annotation on UniProt →
Function. Regulates endocytosis of activin type 2 receptor kinases through the Ral/RALBP1-dependent pathway and may be involved in suppression of activin-induced signal transduction.
Subunit / interactions. Binds (via the PDZ domain) to isoform 2A of SYNJ2 (via the unique motif in the C-terminus). Interacts (via C-terminus) with RALBP1. Interacts (via PDZ domain) with ACVR2A (via C-terminus) and ACVR2B (via C-terminus). Forms a ternary complex with ACVR2A and RALBP1. Interacts with MAPK12. Interacts with DLL1; enhances DLL1 protein stability, and promotes notch signaling in endothelial cells.
Subcellular location. Mitochondrion outer membrane.
RefSeq proteins (1): NP_060843* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001478 | PDZ | Domain |
| IPR036034 | PDZ_sf | Homologous_superfamily |
| IPR050614 | Synaptic_Scaffolding_LAP-MAGUK | Family |
Pfam: PF00595
UniProt features (19 total): strand 8, helix 3, topological domain 2, chain 1, turn 1, transmembrane region 1, domain 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
9 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2JIK | X-RAY DIFFRACTION | 1.35 |
| 2JIN | X-RAY DIFFRACTION | 1.5 |
| 7P73 | X-RAY DIFFRACTION | 1.85 |
| 7P74 | X-RAY DIFFRACTION | 1.9 |
| 8AEL | X-RAY DIFFRACTION | 2.2 |
| 7PC9 | X-RAY DIFFRACTION | 2.4 |
| 7R2M | X-RAY DIFFRACTION | 2.4 |
| 7R2T | X-RAY DIFFRACTION | 2.5 |
| 2ENO | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P57105-F1 | 78.60 | 0.54 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 194 (showing top):
GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION, GOBP_NEGATIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_PROTEIN_TARGETING, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_MAPK_CASCADE, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_SPROUTING_ANGIOGENESIS, chr14q24, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_NEGATIVE_REGULATION_OF_SPROUTING_ANGIOGENESIS, GOBP_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION
GO Biological Process (9): negative regulation of endothelial cell proliferation (GO:0001937), protein targeting (GO:0006605), Rho protein signal transduction (GO:0007266), regulation of Notch signaling pathway (GO:0008593), negative regulation of endothelial cell migration (GO:0010596), negative regulation of angiogenesis (GO:0016525), regulation of endocytosis (GO:0030100), negative regulation of ERK1 and ERK2 cascade (GO:0070373), negative regulation of sprouting angiogenesis (GO:1903671)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| endothelial cell proliferation | 1 |
| regulation of endothelial cell proliferation | 1 |
| negative regulation of epithelial cell proliferation | 1 |
| establishment of protein localization | 1 |
| small GTPase-mediated signal transduction | 1 |
| Notch signaling pathway | 1 |
| regulation of signal transduction | 1 |
| regulation of endothelial cell migration | 1 |
| negative regulation of cell migration | 1 |
| endothelial cell migration | 1 |
| angiogenesis | 1 |
| regulation of angiogenesis | 1 |
| negative regulation of blood vessel morphogenesis | 1 |
| endocytosis | 1 |
| regulation of cellular component organization | 1 |
| regulation of vesicle-mediated transport | 1 |
| negative regulation of MAPK cascade | 1 |
| ERK1 and ERK2 cascade | 1 |
| regulation of ERK1 and ERK2 cascade | 1 |
| sprouting angiogenesis | 1 |
| negative regulation of angiogenesis | 1 |
| regulation of sprouting angiogenesis | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrial membrane | 1 |
| organelle outer membrane | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1076 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SYNJ2BP | A0A087WVV2 | A0A087WVV2 | 987 |
| SYNJ2BP | SYNJ2 | O15056 | 892 |
| SYNJ2BP | ABITRAM | Q9NX38 | 826 |
| SYNJ2BP | RALA | P11233 | 776 |
| SYNJ2BP | PEX26 | Q7Z412 | 700 |
| SYNJ2BP | SLAMF1 | Q13291 | 672 |
| SYNJ2BP | AMPH | P49418 | 669 |
| SYNJ2BP | PEX6 | Q13608 | 668 |
| SYNJ2BP | SYNJ1 | O43426 | 667 |
| SYNJ2BP | ACVR2A | P27037 | 656 |
| SYNJ2BP | TMIGD1 | Q6UXZ0 | 623 |
| SYNJ2BP | BIN1 | O00499 | 549 |
| SYNJ2BP | TOMM20 | Q15388 | 505 |
| SYNJ2BP | SH3GL2 | Q99962 | 505 |
| SYNJ2BP | BCAP31 | P51572 | 496 |
IntAct
545 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ESYT1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.770 |
| SYNJ2BP | USHBP1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| USHBP1 | SYNJ2BP | psi-mi:“MI:0915”(physical association) | 0.720 |
| SYNJ2BP | AQP6 | psi-mi:“MI:0915”(physical association) | 0.680 |
| E6 | SYNJ2BP | psi-mi:“MI:0407”(direct interaction) | 0.640 |
| Tax | SYNJ2BP | psi-mi:“MI:0407”(direct interaction) | 0.640 |
| SYNJ2BP | Tax | psi-mi:“MI:0915”(physical association) | 0.640 |
| SYNJ2BP | E6 | psi-mi:“MI:0915”(physical association) | 0.640 |
| SYNJ2BP | DLL1 | psi-mi:“MI:0915”(physical association) | 0.610 |
| SYNJ2BP | RPS6KA1 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| E6 | SYNJ2BP | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| SYNJ2BP | E6 | psi-mi:“MI:0915”(physical association) | 0.610 |
| RPS6KA1 | SYNJ2BP | psi-mi:“MI:0915”(physical association) | 0.610 |
| NET1 | SYNJ2BP | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| SLC16A3 | CASK | psi-mi:“MI:0914”(association) | 0.590 |
| KARS1 | SYNJ2BP | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| RRBP1 | SYNJ2BP | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| VANGL1 | SYNJ2BP | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| SYNJ2BP | DLL4 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (167): USHBP1 (Two-hybrid), SYNJ2BP (Affinity Capture-MS), SYNJ2BP (Affinity Capture-MS), SYNJ2BP (Affinity Capture-MS), SYNJ2BP (Affinity Capture-MS), SYNJ2BP (Two-hybrid), BAG6 (Reconstituted Complex), UBQLN1 (Reconstituted Complex), UBQLN4 (Reconstituted Complex), ASNA1 (Reconstituted Complex), UBL4A (Reconstituted Complex), UBQLN2 (Reconstituted Complex), UBQLN1 (Reconstituted Complex), SYNJ2BP (Affinity Capture-MS), SYNJ2BP (Protein-peptide)
ESM2 similar proteins: A0A8C0TYJ0, A0A8I5ZNK2, A6QQZ7, A8KBF6, B2RYD2, O00560, O88506, O95747, P19517, P31016, P57105, P70175, P78352, Q12959, Q15139, Q15700, Q28C55, Q3T0C9, Q3US41, Q5PYH5, Q5PYH6, Q5PYH7, Q5R495, Q5T2T1, Q5U2Y3, Q62108, Q62696, Q62936, Q63622, Q640Z1, Q6DEZ7, Q6DJD3, Q6NXB2, Q6NXG1, Q6P0D7, Q6P9R2, Q6R005, Q7ZY29, Q811D0, Q863I2
Diamond homologs: A0A0G2K2P5, A0A8P0N4K0, C5IAW9, F1LW30, O08721, O08722, O08747, O62683, O95049, O95185, O97758, P39447, P57105, Q07157, Q0P5E6, Q13424, Q28626, Q32LE7, Q3T0C9, Q5EBL8, Q5ZIK2, Q61234, Q6NXB2, Q6QA76, Q6R653, Q6UXZ4, Q6ZN44, Q761X5, Q7KRY7, Q7T2Z5, Q80VW5, Q86UL8, Q8IV45, Q8IZJ1, Q8JGT4, Q8K1S2, Q8K1S3, Q8K1S4, Q95168, Q9CZG9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 139 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 |
|---|---|---|---|
| SLC-mediated transmembrane transport | 10 | 6.7× | 6e-04 |
| Transport of small molecules | 16 | 4.5× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
4 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 4 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
737 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:70375670:ACCT:A | donor_loss | 1.0000 |
| 14:70375671:CCTA:C | donor_loss | 1.0000 |
| 14:70375672:CTA:C | donor_loss | 1.0000 |
| 14:70375673:TA:T | donor_loss | 1.0000 |
| 14:70375674:AC:A | donor_gain | 1.0000 |
| 14:70375674:ACCCT:A | donor_loss | 1.0000 |
| 14:70375675:C:CG | donor_loss | 1.0000 |
| 14:70375675:CC:C | donor_gain | 1.0000 |
| 14:70375767:TTTAC:T | acceptor_gain | 1.0000 |
| 14:70375768:TTAC:T | acceptor_gain | 1.0000 |
| 14:70375769:TAC:T | acceptor_gain | 1.0000 |
| 14:70375772:C:CC | acceptor_gain | 1.0000 |
| 14:70375772:C:G | acceptor_loss | 1.0000 |
| 14:70388482:A:AC | donor_gain | 1.0000 |
| 14:70388482:ATCAC:A | donor_gain | 1.0000 |
| 14:70388489:T:A | donor_gain | 1.0000 |
| 14:70388489:T:TA | donor_gain | 1.0000 |
| 14:70388617:CA:C | acceptor_gain | 1.0000 |
| 14:70416896:ATAC:A | donor_loss | 1.0000 |
| 14:70416897:TACCT:T | donor_loss | 1.0000 |
| 14:70416898:ACC:A | donor_loss | 1.0000 |
| 14:70416898:ACCT:A | donor_loss | 1.0000 |
| 14:70416899:C:CA | donor_loss | 1.0000 |
| 14:70416929:T:TA | donor_gain | 1.0000 |
| 14:70375674:A:AC | donor_gain | 0.9900 |
| 14:70375674:ACC:A | donor_gain | 0.9900 |
| 14:70375675:C:CC | donor_gain | 0.9900 |
| 14:70375675:CCC:C | donor_gain | 0.9900 |
| 14:70375675:CCCT:C | donor_gain | 0.9900 |
| 14:70375705:AG:A | donor_gain | 0.9900 |
AlphaMissense
942 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:70388477:A:G | I65T | 1.000 |
| 14:70388540:A:T | V44D | 1.000 |
| 14:70388591:A:T | I27N | 1.000 |
| 14:70388597:A:G | F25S | 1.000 |
| 14:70375692:A:G | L94P | 0.999 |
| 14:70375719:A:G | F85S | 0.999 |
| 14:70388472:A:G | S67P | 0.999 |
| 14:70388477:A:C | I65S | 0.999 |
| 14:70388495:A:G | L59P | 0.999 |
| 14:70388495:A:T | L59H | 0.999 |
| 14:70388591:A:C | I27S | 0.999 |
| 14:70388600:C:A | G24V | 0.999 |
| 14:70388601:C:G | G24R | 0.999 |
| 14:70416917:A:G | L16P | 0.999 |
| 14:70375741:G:C | H78D | 0.998 |
| 14:70388477:A:T | I65N | 0.998 |
| 14:70388483:T:A | D63V | 0.998 |
| 14:70388483:T:C | D63G | 0.998 |
| 14:70388498:C:G | R58P | 0.998 |
| 14:70388582:C:T | G30E | 0.998 |
| 14:70388585:C:A | G29V | 0.998 |
| 14:70388585:C:T | G29D | 0.998 |
| 14:70388586:C:A | G29C | 0.998 |
| 14:70388586:C:G | G29R | 0.998 |
| 14:70388591:A:G | I27T | 0.998 |
| 14:70388600:C:T | G24D | 0.998 |
| 14:70388601:C:A | G24C | 0.998 |
| 14:70375722:A:G | L84P | 0.997 |
| 14:70375732:C:G | A81P | 0.997 |
| 14:70375767:T:A | N69I | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000003707 (14:70387388 G>C,T), RS1000014228 (14:70404744 G>A), RS1000258763 (14:70400199 A>G), RS1000276119 (14:70380504 A>T), RS1000285168 (14:70392523 A>G), RS1000518135 (14:70414299 C>A), RS1000628183 (14:70368544 T>C), RS1000734824 (14:70375274 T>C), RS1000746111 (14:70379203 T>C), RS1000868192 (14:70417035 G>A,T), RS1000922813 (14:70386048 T>C), RS1000979830 (14:70371437 G>A), RS1001000250 (14:70388862 TAAAG>T), RS1001141443 (14:70410082 T>C), RS1001156147 (14:70395724 A>G)
Disease associations
OMIM: gene MIM:609411 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002497_28 | Blood pressure | 6.000000e-07 |
| GCST006612_94 | LDL cholesterol | 3.000000e-11 |
| GCST007448_12 | Normal facial asymmetry (angle of surface orientation score) | 2.000000e-08 |
| GCST010396_4 | Gut microbiota (bacterial taxa, hurdle binary method) | 9.000000e-06 |
| GCST012137_4 | Motor coordination | 2.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0009751 | facial asymmetry measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0010749 | motor function measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | 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 | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | increases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Coumestrol | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Smoke | increases abundance, increases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tunicamycin | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.