MYRIP
geneOn this page
Also known as DKFZp586F1018exophilin-8SLAC2-CSLAC2C
Summary
MYRIP (myosin VIIA and Rab interacting protein, HGNC:19156) is a protein-coding gene on chromosome 3p22.1, encoding Rab effector MyRIP (Q8NFW9). Rab effector protein involved in melanosome transport.
Predicted to enable actin binding activity; myosin binding activity; and protein kinase A binding activity. Predicted to be involved in positive regulation of insulin secretion. Predicted to be located in several cellular components, including cytoplasmic vesicle; perinuclear region of cytoplasm; and photoreceptor outer segment. Predicted to be part of exocyst. Predicted to be active in cortical actin cytoskeleton.
Source: NCBI Gene 25924 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 52 total
- MANE Select transcript:
NM_015460
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19156 |
| Approved symbol | MYRIP |
| Name | myosin VIIA and Rab interacting protein |
| Location | 3p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp586F1018, exophilin-8, SLAC2-C, SLAC2C |
| Ensembl gene | ENSG00000170011 |
| Ensembl biotype | protein_coding |
| OMIM | 611790 |
| Entrez | 25924 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 9 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000302541, ENST00000396217, ENST00000425621, ENST00000444716, ENST00000458292, ENST00000458441, ENST00000459828, ENST00000475082, ENST00000482033, ENST00000539167, ENST00000866103, ENST00000866104, ENST00000966123, ENST00000966124
RefSeq mRNA: 5 — MANE Select: NM_015460
NM_001284423, NM_001284424, NM_001284425, NM_001284426, NM_015460
CCDS: CCDS2689, CCDS68390, CCDS68391, CCDS68392
Canonical transcript exons
ENST00000302541 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001813396 | 40258134 | 40260321 |
| ENSE00001889127 | 39809609 | 39809916 |
| ENSE00003465544 | 40250439 | 40250499 |
| ENSE00003500639 | 40250222 | 40250326 |
| ENSE00003505407 | 40182220 | 40182373 |
| ENSE00003524887 | 40044050 | 40044271 |
| ENSE00003554558 | 40251881 | 40251999 |
| ENSE00003557154 | 40167159 | 40167239 |
| ENSE00003559920 | 40151048 | 40151184 |
| ENSE00003560710 | 39900787 | 39900926 |
| ENSE00003570864 | 40209854 | 40210093 |
| ENSE00003591457 | 40244446 | 40244607 |
| ENSE00003603494 | 40162730 | 40162810 |
| ENSE00003606608 | 40166846 | 40166943 |
| ENSE00003677798 | 40169950 | 40170093 |
| ENSE00003685136 | 40189826 | 40190463 |
| ENSE00003691666 | 40233859 | 40234053 |
Expression profiles
Bgee: expression breadth ubiquitous, 261 present calls, max score 97.81.
FANTOM5 (CAGE): breadth broad, TPM avg 3.1187 / max 151.3854, expressed in 449 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 36165 | 1.7215 | 378 |
| 36163 | 0.3309 | 133 |
| 36167 | 0.3302 | 158 |
| 36164 | 0.2821 | 159 |
| 36169 | 0.2703 | 54 |
| 36166 | 0.0945 | 39 |
| 36168 | 0.0776 | 35 |
| 202731 | 0.0117 | 5 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pigmented layer of retina | UBERON:0001782 | 97.81 | gold quality |
| retina | UBERON:0000966 | 97.78 | gold quality |
| endothelial cell | CL:0000115 | 97.41 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 95.42 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 95.22 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 92.95 | gold quality |
| parotid gland | UBERON:0001831 | 92.09 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 92.08 | gold quality |
| entorhinal cortex | UBERON:0002728 | 91.31 | gold quality |
| amygdala | UBERON:0001876 | 91.05 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 91.04 | gold quality |
| temporal lobe | UBERON:0001871 | 90.69 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 88.08 | gold quality |
| cingulate cortex | UBERON:0003027 | 87.74 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 87.74 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 87.12 | gold quality |
| postcentral gyrus | UBERON:0002581 | 86.56 | gold quality |
| prefrontal cortex | UBERON:0000451 | 86.22 | gold quality |
| parietal lobe | UBERON:0001872 | 86.05 | gold quality |
| frontal cortex | UBERON:0001870 | 85.98 | gold quality |
| neocortex | UBERON:0001950 | 85.96 | gold quality |
| cerebral cortex | UBERON:0000956 | 85.92 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 85.46 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 85.37 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 85.14 | gold quality |
| primary visual cortex | UBERON:0002436 | 84.89 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 84.88 | gold quality |
| paraflocculus | UBERON:0005351 | 84.60 | gold quality |
| right frontal lobe | UBERON:0002810 | 84.51 | gold quality |
| frontal pole | UBERON:0002795 | 84.37 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 69.95 |
| E-CURD-119 | yes | 21.15 |
| E-HCAD-25 | yes | 7.88 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GATA3
miRNA regulators (miRDB)
146 targeting MYRIP, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
Literature-anchored findings (GeneRIF, showing 9)
- a molecular complex composed of Rab27A, MyRIP and myosin VIIa bridges retinal melanosomes to the actin cytoskeleton and thereby mediates the local trafficking of these organelles (PMID:11964381)
- Slac2-c/MyRIP contains an N-terminal Slp homology domain (SHD) and functions as a linker protein that interacts with myosin Rab27A/B, VIIa/Va, and actin. (PMID:12221080)
- Slac2c/MyRIP is part of a complex mediating the interaction of secretory granules with cortical actin cytoskeleton (PMID:14517322)
- During primate spermiogenesis, dynein, myosin Va, MyRIP and Rab27b that compose microtubule-based and actin-based vesicle transport systems are actually present in the manchette and might possibly be involved in intramanchette transport. (PMID:18478159)
- Rab27a and MyRIP regulate the amount and multimeric state of VWF released from endothelial cells. (PMID:19270261)
- A new potentially protective effect was identified at rs2679798 in MYRIP. (PMID:20861866)
- A Rab27a/MyRIP/myosin Va complex is involved in linking von-Willebrand factor (Vwf) to the peripheral actin cytoskeleton of endothelial cells to allow full maturation and prevent premature secretion of vWF. (PMID:21740491)
- Myrip couples the retention of secretory granules in the cell cortex, their transport to the plasma membrane, and their attachment to the plasma membrane, thus promoting secretion. (PMID:22396429)
- The role of MyRIP in Ca(2+)-driven exocytosis requires both MyoVa- and actin-binding potential. (PMID:26675235)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | myripb | ENSDARG00000038814 |
| danio_rerio | myripa | ENSDARG00000075706 |
| mus_musculus | Myrip | ENSMUSG00000041794 |
| rattus_norvegicus | Myrip | ENSRNOG00000018797 |
Paralogs (2): MLPH (ENSG00000115648), MOBP (ENSG00000168314)
Protein
Protein identifiers
Rab effector MyRIP — Q8NFW9 (reviewed: Q8NFW9)
Alternative names: Exophilin-8, Myosin-VIIa- and Rab-interacting protein, Synaptotagmin-like protein lacking C2 domains C
All UniProt accessions (2): Q8NFW9, F8WFC5
UniProt curated annotations — full annotation on UniProt →
Function. Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor proteins MYO5A and MYO7A. May link RAB27A-containing vesicles to actin filaments. Functions as a protein kinase A-anchoring protein (AKAP). May act as a scaffolding protein that links PKA to components of the exocytosis machinery, thus facilitating exocytosis, including insulin release.
Subunit / interactions. Binds MYO5A, MYO7A and F-actin. Binds RAB27A that has been activated by GTP-binding via its N-terminus. Interacts with PRKAR2A. Interacts with components of the exocyst complex, including EXOC3 and EXOC4.
Subcellular location. Cytoplasm. Perinuclear region. Cytoplasmic vesicle. Secretory vesicle.
Tissue specificity. Detected in brain, skin, heart, adrenal medulla, pancreas, intestine, liver, kidney, muscle and testis.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NFW9-1 | 1 | yes |
| Q8NFW9-2 | 2 | |
| Q8NFW9-3 | 3 | |
| Q8NFW9-4 | 4 | |
| Q8NFW9-5 | 5 | |
| Q8NFW9-6 | 6 |
RefSeq proteins (5): NP_001271352, NP_001271353, NP_001271354, NP_001271355, NP_056275* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006788 | Myrip/Melanophilin | Domain |
| IPR010911 | Rab_BD | Domain |
| IPR011011 | Znf_FYVE_PHD | Homologous_superfamily |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR041282 | FYVE_2 | Domain |
| IPR051745 | Intracell_Transport_Effector | Family |
Pfam: PF02318, PF04698
UniProt features (35 total): region of interest 8, compositionally biased region 7, splice variant 7, sequence conflict 5, sequence variant 3, modified residue 2, chain 1, domain 1, zinc finger region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NFW9-F1 | 58.10 | 0.22 |
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): 298, 350
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-264876 | Insulin processing |
| R-HSA-9824585 | Regulation of MITF-M-dependent genes involved in pigmentation |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-2980736 | Peptide hormone metabolism |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-9730414 | MITF-M-regulated melanocyte development |
| R-HSA-9856651 | MITF-M-dependent gene expression |
MSigDB gene sets: 199 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOCC_SECRETORY_GRANULE, ATACCTC_MIR202, GOBP_INSULIN_SECRETION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOMF_GTPASE_BINDING, GOBP_CELL_CELL_SIGNALING, GTGCCTT_MIR506, CAIRO_HEPATOBLASTOMA_CLASSES_DN, GOBP_POSITIVE_REGULATION_OF_INSULIN_SECRETION, GOBP_REGULATION_OF_PROTEIN_SECRETION, MISSIAGLIA_REGULATED_BY_METHYLATION_UP
GO Biological Process (2): intracellular protein transport (GO:0006886), positive regulation of insulin secretion (GO:0032024)
GO Molecular Function (7): actin binding (GO:0003779), zinc ion binding (GO:0008270), myosin binding (GO:0017022), small GTPase binding (GO:0031267), protein kinase A binding (GO:0051018), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (12): exocyst (GO:0000145), photoreceptor outer segment (GO:0001750), cytosol (GO:0005829), transport vesicle (GO:0030133), cortical actin cytoskeleton (GO:0030864), dense core granule (GO:0031045), melanosome (GO:0042470), synapse (GO:0045202), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), actin cytoskeleton (GO:0015629), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Peptide hormone metabolism | 1 |
| MITF-M-dependent gene expression | 1 |
| Metabolism of proteins | 1 |
| Developmental Biology | 1 |
| MITF-M-regulated melanocyte development | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoplasm | 3 |
| cytoskeletal protein binding | 2 |
| intracellular protein localization | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| insulin secretion | 1 |
| positive regulation of protein secretion | 1 |
| regulation of insulin secretion | 1 |
| positive regulation of peptide hormone secretion | 1 |
| transition metal ion binding | 1 |
| GTPase binding | 1 |
| protein binding | 1 |
| binding | 1 |
| cation binding | 1 |
| cell cortex | 1 |
| vesicle tethering complex | 1 |
| photoreceptor cell cilium | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| actin cytoskeleton | 1 |
| cortical cytoskeleton | 1 |
| secretory granule | 1 |
| pigment granule | 1 |
| cell junction | 1 |
| intracellular anatomical structure | 1 |
| cytoskeleton | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
612 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MYRIP | RAB27A | P51159 | 997 |
| MYRIP | MYO5A | Q9Y4I1 | 988 |
| MYRIP | MYO7A | P78427 | 978 |
| MYRIP | RAB27B | O00194 | 957 |
| MYRIP | SYTL1 | Q8IYJ3 | 903 |
| MYRIP | EXOC3 | O60645 | 900 |
| MYRIP | EXOC4 | Q96A65 | 890 |
| MYRIP | SYTL2 | Q9HCH5 | 662 |
| MYRIP | PRKACB | P22694 | 594 |
| MYRIP | PRKACA | P17612 | 593 |
| MYRIP | PRKACG | P22612 | 591 |
| MYRIP | UNC13D | Q70J99 | 529 |
| MYRIP | RIMBP2 | O15034 | 513 |
| MYRIP | STX4 | Q12846 | 479 |
| MYRIP | CAV1 | Q03135 | 458 |
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MYRIP | C1orf216 | psi-mi:“MI:0915”(physical association) | 0.720 |
| C1orf216 | MYRIP | psi-mi:“MI:0915”(physical association) | 0.720 |
| RAB27B | MYRIP | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAB27A | MYRIP | psi-mi:“MI:0915”(physical association) | 0.560 |
| OIP5 | MYRIP | psi-mi:“MI:0915”(physical association) | 0.560 |
| MYRIP | Dlg4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MYRIP | CAV1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GRB2 | MYRIP | psi-mi:“MI:0915”(physical association) | 0.400 |
| MYRIP | NCK1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PIK3R1 | MYRIP | psi-mi:“MI:0915”(physical association) | 0.400 |
| C1orf216 | MYRIP | psi-mi:“MI:0915”(physical association) | 0.000 |
| RAB27B | MYRIP | psi-mi:“MI:0915”(physical association) | 0.000 |
| RAB27A | MYRIP | psi-mi:“MI:0915”(physical association) | 0.000 |
| MYRIP | OIP5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| VPS26C | MYRIP | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (10): C1orf216 (Two-hybrid), MYRIP (Affinity Capture-RNA), MYRIP (Affinity Capture-Western), MYRIP (Two-hybrid), MYRIP (Two-hybrid), MYRIP (Two-hybrid), MYRIP (Two-hybrid), MYRIP (Two-hybrid), MYRIP (Cross-Linking-MS (XL-MS)), PDCD11 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A1L8HBI7, A0A1L8HJK9, A0A1L8HTT5, A6NP61, A8T6P4, C0SPG1, C3VD30, F1N4E5, K7SGN7, O35144, O35253, O70240, O88406, O88566, Q15554, Q1XFL1, Q3ZC82, Q4KLH3, Q5HZN9, Q5JTV8, Q5PQX1, Q5R7A3, Q62315, Q68DK7, Q6P1H6, Q6PDM1, Q6PG95, Q6ZPF3, Q76N89, Q7T3T8, Q7T3T9, Q7T3U0, Q7TNY7, Q7TP65, Q7TSX9, Q80SU3, Q80VM8, Q86XL3, Q8IVF5, Q8K3I4
Diamond homologs: A8T6P4, M3WHG5, Q13875, Q63327, Q7TNY7, Q8K3I4, Q8NFW9, Q8VHQ7, Q91V27, Q96C24, Q9BV36, Q9D2P8, Q9R0Q1, A0FGR8, A0FGR9, A6QP06, A8KBH6, O00443, O00750, O54880, P97610, Q22366, Q3TZZ7, Q4VX76, Q58D79, Q5DTI8, Q5FWL4, Q5M7N9, Q5RAY1, Q61194, Q768S4, Q7ZWU7, Q80T23, Q812E4, Q86UR5, Q8IV01, Q8IYJ3, Q8TDW5, Q920N7, Q99N48
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 43 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4189 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:39813310:GC:G | donor_gain | 1.0000 |
| 3:39813311:C:G | donor_gain | 1.0000 |
| 3:39893264:G:GT | donor_gain | 1.0000 |
| 3:39900776:T:TA | acceptor_gain | 1.0000 |
| 3:39900782:CCCA:C | acceptor_loss | 1.0000 |
| 3:39900784:CAGGT:C | acceptor_loss | 1.0000 |
| 3:39900785:A:AC | acceptor_loss | 1.0000 |
| 3:39900786:G:GT | acceptor_loss | 1.0000 |
| 3:39900922:CTAAG:C | donor_loss | 1.0000 |
| 3:39900923:TAAG:T | donor_loss | 1.0000 |
| 3:39900924:AAGGT:A | donor_loss | 1.0000 |
| 3:39900928:T:A | donor_loss | 1.0000 |
| 3:39923687:G:GT | donor_gain | 1.0000 |
| 3:40044026:A:AG | acceptor_gain | 1.0000 |
| 3:40044027:T:G | acceptor_gain | 1.0000 |
| 3:40044035:A:AG | acceptor_gain | 1.0000 |
| 3:40044035:ACCTT:A | acceptor_gain | 1.0000 |
| 3:40044036:C:G | acceptor_gain | 1.0000 |
| 3:40044039:T:TA | acceptor_gain | 1.0000 |
| 3:40044040:G:A | acceptor_gain | 1.0000 |
| 3:40044047:CA:C | acceptor_loss | 1.0000 |
| 3:40044047:CAGTG:C | acceptor_gain | 1.0000 |
| 3:40044048:A:AG | acceptor_gain | 1.0000 |
| 3:40044048:AGT:A | acceptor_gain | 1.0000 |
| 3:40044048:AGTG:A | acceptor_gain | 1.0000 |
| 3:40044049:G:GA | acceptor_gain | 1.0000 |
| 3:40044049:GT:G | acceptor_gain | 1.0000 |
| 3:40044049:GTG:G | acceptor_gain | 1.0000 |
| 3:40044049:GTGA:G | acceptor_gain | 1.0000 |
| 3:40044049:GTGAG:G | acceptor_gain | 1.0000 |
AlphaMissense
5630 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:39900869:T:A | V18D | 0.999 |
| 3:39900899:T:C | L28P | 0.999 |
| 3:40167217:T:C | L236P | 0.999 |
| 3:39900845:T:C | L10S | 0.998 |
| 3:39900881:T:A | V22D | 0.998 |
| 3:39900890:A:C | D25A | 0.998 |
| 3:39900890:A:T | D25V | 0.998 |
| 3:39900901:C:A | R29S | 0.998 |
| 3:40044130:G:A | C64Y | 0.998 |
| 3:40044131:C:G | C64W | 0.998 |
| 3:40044249:T:C | C104R | 0.998 |
| 3:40151073:T:A | W120R | 0.998 |
| 3:40151073:T:C | W120R | 0.998 |
| 3:40151100:T:C | F129L | 0.998 |
| 3:40151102:C:A | F129L | 0.998 |
| 3:40151102:C:G | F129L | 0.998 |
| 3:40151109:T:C | F132L | 0.998 |
| 3:40151111:T:A | F132L | 0.998 |
| 3:40151111:T:G | F132L | 0.998 |
| 3:40166887:G:C | A198P | 0.998 |
| 3:40166888:C:A | A198D | 0.998 |
| 3:40166908:G:C | A205P | 0.998 |
| 3:40167184:T:C | L225P | 0.998 |
| 3:39900890:A:G | D25G | 0.997 |
| 3:39900891:C:A | D25E | 0.997 |
| 3:39900891:C:G | D25E | 0.997 |
| 3:39900902:G:C | R29P | 0.997 |
| 3:39900920:G:C | R35P | 0.997 |
| 3:40044129:T:C | C64R | 0.997 |
| 3:40044180:T:C | C81R | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000005579 (3:40145706 T>C), RS1000014941 (3:39935929 C>T), RS1000015530 (3:40059465 G>A), RS1000033379 (3:40192375 A>G,T), RS1000038786 (3:39836844 C>A), RS1000059526 (3:40068400 G>A), RS1000073976 (3:39943258 T>G), RS1000077708 (3:40209425 A>G), RS1000084825 (3:39959506 C>T), RS1000091523 (3:40133955 C>A,T), RS1000092137 (3:39837110 A>G), RS1000102501 (3:40259544 C>T), RS1000103866 (3:40112820 A>G), RS1000106457 (3:40192676 C>T), RS1000107369 (3:39934358 A>C)
Disease associations
OMIM: gene MIM:611790 | 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 |
|---|---|---|
| GCST000081_1 | Sleep-related phenotypes | 1.000000e-07 |
| GCST000905_1 | Information processing speed | 9.000000e-06 |
| GCST001693_1 | Acute lymphoblastic leukemia (childhood) | 2.000000e-07 |
| GCST007470_4 | Rapid automatized naming of letters | 8.000000e-06 |
| GCST009200_3 | Whole brain grey matter density | 7.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004363 | information processing speed |
| EFO:0005301 | reading and spelling ability |
| EFO:0010306 | Grey matter density measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 4 |
| Valproic Acid | increases expression, decreases expression | 4 |
| Aflatoxin B1 | decreases expression, decreases methylation | 4 |
| Estradiol | decreases expression, affects cotreatment, increases expression | 2 |
| Nickel | decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | decreases methylation | 1 |
| methyleugenol | decreases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | affects cotreatment, increases methylation, decreases methylation | 1 |
| methylselenic acid | decreases expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| terbufos | increases methylation | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | increases methylation | 1 |
| sulforaphane | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| prothioconazole | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Fonofos | increases methylation | 1 |
| Methapyrilene | decreases expression | 1 |
| Parathion | increases methylation | 1 |
| Phenobarbital | affects expression | 1 |
| Phthalic Acids | increases methylation | 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): acute lymphoblastic leukemia