MPRIP
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Also known as RHOIP3M-RIPp116Rip
Summary
MPRIP (myosin phosphatase Rho interacting protein, HGNC:30321) is a protein-coding gene on chromosome 17p11.2, encoding Myosin phosphatase Rho-interacting protein (Q6WCQ1). Targets myosin phosphatase to the actin cytoskeleton.
Enables cadherin binding activity. Located in actin cytoskeleton and cytosol.
Source: NCBI Gene 23164 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 204 total
- MANE Select transcript:
NM_001364716
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30321 |
| Approved symbol | MPRIP |
| Name | myosin phosphatase Rho interacting protein |
| Location | 17p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RHOIP3, M-RIP, p116Rip |
| Ensembl gene | ENSG00000133030 |
| Ensembl biotype | protein_coding |
| OMIM | 612935 |
| Entrez | 23164 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 16 protein_coding, 6 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000313485, ENST00000341712, ENST00000395806, ENST00000395807, ENST00000395811, ENST00000414263, ENST00000429184, ENST00000462033, ENST00000466186, ENST00000577514, ENST00000578209, ENST00000578521, ENST00000578548, ENST00000579361, ENST00000579832, ENST00000581855, ENST00000581955, ENST00000581989, ENST00000584067, ENST00000584936, ENST00000651222, ENST00000948254, ENST00000948255
RefSeq mRNA: 3 — MANE Select: NM_001364716
NM_001364716, NM_015134, NM_201274
CCDS: CCDS32578, CCDS42268, CCDS92265
Canonical transcript exons
ENST00000651222 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000907786 | 17173916 | 17174075 |
| ENSE00000907787 | 17175293 | 17175412 |
| ENSE00000907789 | 17177250 | 17177412 |
| ENSE00000907790 | 17180003 | 17180088 |
| ENSE00001606225 | 17150144 | 17150233 |
| ENSE00001609181 | 17172698 | 17172815 |
| ENSE00001618716 | 17171718 | 17171865 |
| ENSE00001622527 | 17161240 | 17161356 |
| ENSE00001625403 | 17147319 | 17147387 |
| ENSE00001639709 | 17158432 | 17159002 |
| ENSE00001646598 | 17164109 | 17167915 |
| ENSE00001659433 | 17146036 | 17146092 |
| ENSE00001699629 | 17142627 | 17142765 |
| ENSE00001756678 | 17143556 | 17143669 |
| ENSE00001822722 | 17137916 | 17138429 |
| ENSE00003528138 | 17176426 | 17176512 |
| ENSE00003538212 | 17078011 | 17078076 |
| ENSE00003577150 | 17154306 | 17154415 |
| ENSE00003606301 | 17075710 | 17075787 |
| ENSE00003646061 | 17131617 | 17131701 |
| ENSE00003672465 | 17136219 | 17136450 |
| ENSE00003788093 | 17126702 | 17126853 |
| ENSE00003843892 | 17042457 | 17042971 |
| ENSE00003847382 | 17184823 | 17192643 |
Expression profiles
Bgee: expression breadth ubiquitous, 300 present calls, max score 99.06.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 45.6271 / max 624.7259, expressed in 1814 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 159719 | 24.0737 | 1808 |
| 159720 | 18.2855 | 1771 |
| 159721 | 1.2964 | 749 |
| 159718 | 0.9248 | 641 |
| 159730 | 0.4957 | 67 |
| 159724 | 0.3480 | 176 |
| 159729 | 0.1116 | 41 |
| 159726 | 0.0379 | 12 |
| 159731 | 0.0305 | 18 |
| 159732 | 0.0230 | 18 |
Top tissues by expression
301 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 99.06 | gold quality |
| popliteal artery | UBERON:0002250 | 99.00 | gold quality |
| tibial artery | UBERON:0007610 | 99.00 | gold quality |
| sural nerve | UBERON:0015488 | 98.85 | gold quality |
| right coronary artery | UBERON:0001625 | 98.81 | gold quality |
| amniotic fluid | UBERON:0000173 | 98.78 | gold quality |
| peripheral nervous system | UBERON:0000010 | 98.76 | gold quality |
| aorta | UBERON:0000947 | 98.76 | gold quality |
| nerve | UBERON:0001021 | 98.76 | gold quality |
| tibial nerve | UBERON:0001323 | 98.76 | gold quality |
| olfactory bulb | UBERON:0002264 | 98.75 | gold quality |
| saphenous vein | UBERON:0007318 | 98.71 | gold quality |
| body of uterus | UBERON:0009853 | 98.60 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.57 | gold quality |
| buccal mucosa cell | CL:0002336 | 98.56 | gold quality |
| ascending aorta | UBERON:0001496 | 98.49 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.47 | gold quality |
| left coronary artery | UBERON:0001626 | 98.47 | gold quality |
| coronary artery | UBERON:0001621 | 98.46 | gold quality |
| inferior olivary complex | UBERON:0002127 | 98.45 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.43 | gold quality |
| ventricular zone | UBERON:0003053 | 98.41 | gold quality |
| apex of heart | UBERON:0002098 | 98.40 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.35 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.33 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.32 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 98.26 | gold quality |
| myometrium | UBERON:0001296 | 98.25 | gold quality |
| heart left ventricle | UBERON:0002084 | 98.25 | gold quality |
| putamen | UBERON:0001874 | 98.24 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.06 |
| E-MTAB-6678 | yes | 4.39 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
264 targeting MPRIP, 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-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| 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 |
Literature-anchored findings (GeneRIF, showing 9)
- p116Rip is an important regulatory component that controls the RhoA signaling pathway, thus regulating MLCP activity and myosin phosphorylation in cells (PMID:15545284)
- M-RIP-dependent targeting of myosin phosphatase to stress fibers has an important role in regulating myosin light chain phosphorylation state and morphology in human vascular smooth muscle cells (PMID:16257966)
- A functional analysis of JNK1 and M-RIP with RNA interference reveals a critical role for this cascade in the invasive behavior of cancer cells. (PMID:18636174)
- MLCP (myosin light chain phosphatase) activation is counteracted by a previously unrecognized association between MRIP and the inducible kinase NUAK2 (PMID:21242312)
- Our data identify M-RIP as a crucial local regulator of the Rho-Rac balance during chemotaxis and antigen recognition. (PMID:22349701)
- The B-Raf(V600E) inhibitor dabrafenib selectively inhibits RIP3 and alleviates acetaminophen-induced liver injury. (PMID:24901049)
- The F-Actin-Binding MPRIP Forms Phase-Separated Condensates and Associates with PI(4,5)P2 and Active RNA Polymerase II in the Cell Nucleus. (PMID:33918018)
- PIP2-Effector Protein MPRIP Regulates RNA Polymerase II Condensation and Transcription. (PMID:36979361)
- [circDDX17 targets miR-223-3p / RIP3 to regulate the proliferation and apoptosis of non-small cell lung cancer cells]. (PMID:38494770)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:ch73-103b11.2 | ENSDARG00000105209 |
| mus_musculus | Mprip | ENSMUSG00000005417 |
| rattus_norvegicus | Mprip | ENSRNOG00000003226 |
| drosophila_melanogaster | osp | FBGN0003016 |
| caenorhabditis_elegans | F10G8.8 | WBGENE00008666 |
Paralogs (1): TRIOBP (ENSG00000100106)
Protein
Protein identifiers
Myosin phosphatase Rho-interacting protein — Q6WCQ1 (reviewed: Q6WCQ1)
Alternative names: Rho-interacting protein 3, p116Rip
All UniProt accessions (13): A0A1W2PPU9, A0A494BZV2, A8MZF8, Q6WCQ1, H0Y2S9, H0Y7E2, H7C3G6, J3KSK7, J3KSW8, J3QL44, J3QRL2, K7EJ14, K7EL39
UniProt curated annotations — full annotation on UniProt →
Function. Targets myosin phosphatase to the actin cytoskeleton. Required for the regulation of the actin cytoskeleton by RhoA and ROCK1. Depletion leads to an increased number of stress fibers in smooth muscle cells through stabilization of actin fibers by phosphorylated myosin. Overexpression of MRIP as well as its F-actin-binding region leads to disassembly of stress fibers in neuronal cells.
Subunit / interactions. Binds F-actin through its N-terminus. Interacts with MYZAP. Binds RHOA, PPP1R12A/MBS and PPP1R12C/MBS85 through adjacent coiled coil domains.
Subcellular location. Cytoplasm. Cytoskeleton.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6WCQ1-1 | 1 | yes |
| Q6WCQ1-2 | 2 | |
| Q6WCQ1-3 | 3 |
RefSeq proteins (3): NP_001351645, NP_055949, NP_958431 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001849 | PH_domain | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR039597 | M-RIP_PH | Domain |
| IPR052223 | Actin_Cytoskeleton_Reg | Family |
Pfam: PF00169
UniProt features (57 total): modified residue 25, sequence conflict 9, compositionally biased region 8, region of interest 7, domain 2, splice variant 2, initiator methionine 1, chain 1, coiled-coil region 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6WCQ1-F1 | 65.71 | 0.31 |
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 (25): 192, 217, 218, 220, 224, 226, 265, 269, 289, 292, 295, 326, 348, 362, 365, 493, 619, 646, 663, 800 …
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-6802952 | Signaling by BRAF and RAF1 fusions |
| R-HSA-1643685 | Disease |
| R-HSA-5663202 | Diseases of signal transduction by growth factor receptors and second messengers |
| R-HSA-6802957 | Oncogenic MAPK signaling |
MSigDB gene sets: 219 (showing top):
HORIUCHI_WTAP_TARGETS_DN, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, MODULE_255, RORA1_01, GCANCTGNY_MYOD_Q6, MODULE_317, HSIAO_HOUSEKEEPING_GENES, HNF1_Q6, CAGCTG_AP4_Q5, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, HP1SITEFACTOR_Q6, TGANTCA_AP1_C, FOURNIER_ACINAR_DEVELOPMENT_EARLY_DN, LYF1_01, GOMF_ACTIN_BINDING
GO Biological Process (0):
GO Molecular Function (4): cadherin binding (GO:0045296), actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)
GO Cellular Component (5): cytosol (GO:0005829), focal adhesion (GO:0005925), actin cytoskeleton (GO:0015629), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Oncogenic MAPK signaling | 1 |
| Disease | 1 |
| Diseases of signal transduction by growth factor receptors and second messengers | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cell adhesion molecule binding | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| cytoskeletal protein binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cell-substrate junction | 1 |
| cytoskeleton | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1184 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MPRIP | RHOA | P06749 | 985 |
| MPRIP | PPP1R12A | O14974 | 913 |
| MPRIP | PPA1 | Q15181 | 842 |
| MPRIP | PRKG1 | P14619 | 755 |
| MPRIP | NTRK1 | P04629 | 551 |
| MPRIP | CDC42BPB | Q9Y5S2 | 515 |
| MPRIP | NUAK2 | Q9H093 | 498 |
| MPRIP | NT5M | Q9NPB1 | 471 |
| MPRIP | PLEK2 | Q9NYT0 | 469 |
| MPRIP | PLEK | P08567 | 465 |
| MPRIP | NOC3L | Q8WTT2 | 464 |
| MPRIP | INO80D | Q53TQ3 | 450 |
| MPRIP | TPM3 | P06753 | 447 |
| MPRIP | POLR2F | P41584 | 445 |
| MPRIP | SEPTIN9 | Q9UHD8 | 444 |
IntAct
216 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GRB2 | EGFR | psi-mi:“MI:0914”(association) | 0.980 |
| PSMC3 | PSMD9 | psi-mi:“MI:0914”(association) | 0.940 |
| MPRIP | YWHAQ | psi-mi:“MI:0915”(physical association) | 0.910 |
| SGF29 | NDC80 | psi-mi:“MI:0914”(association) | 0.840 |
| CAPN1 | CAPNS1 | psi-mi:“MI:0914”(association) | 0.840 |
| YWHAQ | WDR62 | psi-mi:“MI:0914”(association) | 0.830 |
| PLK1 | SPAG9 | psi-mi:“MI:0914”(association) | 0.790 |
| PACSIN1 | COBL | psi-mi:“MI:0914”(association) | 0.750 |
| PACSIN2 | COBL | psi-mi:“MI:0914”(association) | 0.740 |
| VAPB | FAM83G | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| YWHAG | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.640 |
| VAPA | FAM83G | psi-mi:“MI:0914”(association) | 0.640 |
| PSMC3 | PSMD12 | psi-mi:“MI:0914”(association) | 0.640 |
| VAPA | PITPNM1 | psi-mi:“MI:0914”(association) | 0.640 |
| NUAK2 | PPP1R12A | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAB | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.610 |
| MPRIP | Ppp1r12a | psi-mi:“MI:0915”(physical association) | 0.580 |
BioGRID (343): MPRIP (Affinity Capture-MS), MPRIP (Affinity Capture-MS), MPRIP (Affinity Capture-MS), MPRIP (Affinity Capture-MS), MPRIP (Affinity Capture-MS), MPRIP (Affinity Capture-MS), MPRIP (Affinity Capture-MS), MPRIP (Affinity Capture-MS), MPRIP (Reconstituted Complex), MPRIP (Affinity Capture-MS), MPRIP (Affinity Capture-MS), MPRIP (Proximity Label-MS), MPRIP (Affinity Capture-MS), MPRIP (Affinity Capture-MS), MPRIP (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2JUG7, A1L390, A2AHC3, B2RWW0, O14924, O43182, O54834, O54960, O94885, P59808, P80192, P97434, Q13009, Q17R10, Q3U1V8, Q3U214, Q4VAC9, Q5DTU0, Q5DU25, Q5JU85, Q5RBI7, Q5SXA9, Q60610, Q6DN90, Q6NXJ0, Q6P0Q8, Q6P1I6, Q6P720, Q6P9R4, Q6WCQ1, Q6XZF7, Q76G19, Q76LL6, Q7T2V3, Q80Z38, Q810W7, Q8IX03, Q8N103, Q8R0S2, Q8R4H2
Diamond homologs: B6RSP1, D3ZL52, G9CGD6, O08967, O43739, P54644, P60669, P97434, P97696, Q3UIL6, Q5DU31, Q6IQ23, Q6WCQ1, Q6ZNL6, Q7TQG1, Q80UZ0, Q80VL0, Q80YA9, Q86IV4, Q8BH49, Q8C4V1, Q8N264, Q8N4B1, Q8VC98, Q8WWN9, Q8WXI2, Q99KW3, Q9ERE6, Q9ERS5, Q9H4M7, Q9HAU0, Q9HB19, Q9Y2H5, Q9Z1T4, Q9H2D6, Q27421, P34512, Q1ZXL0, Q86I31, Q91VS8
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ROCK1 | down-regulates | MPRIP | phosphorylation |
| PPM1B | “down-regulates activity” | MPRIP | dephosphorylation |
| RIPK1 | “up-regulates activity” | MPRIP | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 205 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 |
|---|---|---|---|
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 9 | 40.0× | 2e-10 |
| Activation of BAD and translocation to mitochondria | 7 | 35.3× | 1e-07 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 31.1× | 2e-07 |
| Activation of BH3-only proteins | 7 | 23.0× | 1e-06 |
| RHO GTPases activate PKNs | 9 | 18.9× | 2e-07 |
| Intrinsic Pathway for Apoptosis | 9 | 17.4× | 2e-07 |
| Apoptosis | 11 | 12.2× | 2e-07 |
| FOXO-mediated transcription | 5 | 11.1× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of ubiquitin-dependent protein catabolic process | 7 | 21.6× | 5e-05 |
| cellular response to glucose starvation | 6 | 11.1× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
204 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 158 |
| Likely benign | 15 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
6741 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:17042968:GCAG:G | donor_gain | 1.0000 |
| 17:17042970:AGGT:A | donor_loss | 1.0000 |
| 17:17042971:GGT:G | donor_loss | 1.0000 |
| 17:17042972:G:GG | donor_gain | 1.0000 |
| 17:17042972:GTGA:G | donor_loss | 1.0000 |
| 17:17075706:CTAGG:C | acceptor_loss | 1.0000 |
| 17:17075707:TAGG:T | acceptor_loss | 1.0000 |
| 17:17075708:A:AG | acceptor_gain | 1.0000 |
| 17:17075708:A:C | acceptor_loss | 1.0000 |
| 17:17075709:G:GA | acceptor_loss | 1.0000 |
| 17:17075709:G:GG | acceptor_gain | 1.0000 |
| 17:17075709:GGCAA:G | acceptor_gain | 1.0000 |
| 17:17078072:AGATG:A | donor_gain | 1.0000 |
| 17:17078073:GATG:G | donor_gain | 1.0000 |
| 17:17078073:GATGG:G | donor_gain | 1.0000 |
| 17:17078074:ATG:A | donor_gain | 1.0000 |
| 17:17078074:ATGGT:A | donor_loss | 1.0000 |
| 17:17078075:TG:T | donor_gain | 1.0000 |
| 17:17078075:TGG:T | donor_loss | 1.0000 |
| 17:17078076:GG:G | donor_gain | 1.0000 |
| 17:17078077:G:GA | donor_loss | 1.0000 |
| 17:17078077:G:GG | donor_gain | 1.0000 |
| 17:17078078:T:A | donor_loss | 1.0000 |
| 17:17126850:GTGG:G | donor_gain | 1.0000 |
| 17:17126854:G:GG | donor_gain | 1.0000 |
| 17:17126854:GTGA:G | donor_loss | 1.0000 |
| 17:17126855:TGAG:T | donor_loss | 1.0000 |
| 17:17131613:CCAG:C | acceptor_loss | 1.0000 |
| 17:17131614:CAGG:C | acceptor_loss | 1.0000 |
| 17:17131615:A:AC | acceptor_loss | 1.0000 |
AlphaMissense
15892 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:17042873:T:A | C9S | 1.000 |
| 17:17042873:T:C | C9R | 1.000 |
| 17:17042874:G:A | C9Y | 1.000 |
| 17:17042874:G:C | C9S | 1.000 |
| 17:17042875:C:G | C9W | 1.000 |
| 17:17042882:T:C | F12L | 1.000 |
| 17:17042883:T:C | F12S | 1.000 |
| 17:17042883:T:G | F12C | 1.000 |
| 17:17042884:C:A | F12L | 1.000 |
| 17:17042884:C:G | F12L | 1.000 |
| 17:17042893:C:A | N15K | 1.000 |
| 17:17042893:C:G | N15K | 1.000 |
| 17:17042895:T:C | I16T | 1.000 |
| 17:17042897:T:A | F17I | 1.000 |
| 17:17042897:T:C | F17L | 1.000 |
| 17:17042897:T:G | F17V | 1.000 |
| 17:17042898:T:C | F17S | 1.000 |
| 17:17042898:T:G | F17C | 1.000 |
| 17:17042899:C:A | F17L | 1.000 |
| 17:17042899:C:G | F17L | 1.000 |
| 17:17042909:A:G | K21E | 1.000 |
| 17:17042911:G:C | K21N | 1.000 |
| 17:17042911:G:T | K21N | 1.000 |
| 17:17042912:T:A | C22S | 1.000 |
| 17:17042912:T:C | C22R | 1.000 |
| 17:17042913:G:A | C22Y | 1.000 |
| 17:17042913:G:C | C22S | 1.000 |
| 17:17042913:G:T | C22F | 1.000 |
| 17:17042914:T:G | C22W | 1.000 |
| 17:17042921:T:A | C25S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000019674 (17:17050782 G>A), RS1000040759 (17:17093064 T>C), RS1000054640 (17:17110431 T>G), RS1000075510 (17:17070790 T>A), RS1000086848 (17:17110205 G>T), RS1000096340 (17:17051960 G>A), RS1000104456 (17:17092545 C>G), RS1000104969 (17:17133123 C>G), RS1000106052 (17:17170489 C>T), RS1000114895 (17:17187949 A>G), RS1000130928 (17:17176338 G>A), RS1000140096 (17:17095336 C>G,T), RS1000164556 (17:17115943 T>C), RS1000212309 (17:17058626 C>T), RS1000244493 (17:17155155 T>G)
Disease associations
OMIM: gene MIM:612935 | 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 |
|---|---|---|
| GCST001017_7 | Diabetic retinopathy | 7.000000e-06 |
| GCST001762_467 | Obesity-related traits | 7.000000e-08 |
| GCST008058_260 | Estimated glomerular filtration rate | 2.000000e-08 |
| GCST90002383_64 | Hematocrit | 5.000000e-09 |
| GCST90002384_406 | Hemoglobin | 2.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004626 | IGFBP-3 measurement |
| EFO:0004348 | hematocrit |
| EFO:0004509 | hemoglobin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
73 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 5 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| bisphenol F | increases expression | 2 |
| bisphenol A | decreases methylation, increases expression | 2 |
| bisphenol S | increases expression, affects cotreatment, increases methylation | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Testosterone | affects cotreatment, decreases expression, increases expression | 2 |
| Aflatoxin B1 | increases expression, increases methylation | 2 |
| FR900359 | affects phosphorylation | 1 |
| moringin | affects cotreatment, decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| propylparaben | increases expression | 1 |
| lead acetate | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | increases expression, affects cotreatment, affects localization, decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| terbufos | increases methylation | 1 |
| 2-butenal | decreases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| methylparaben | increases expression | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| cobaltous chloride | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| cupric chloride | increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1XG | Abcam HeLa MPRIP KO | Cancer cell line | Female |
| CVCL_C8TE | CUTO-3 | Cancer cell line | Female |
| CVCL_UJ35 | CUTO-3.29 | Cancer cell line | Female |
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): diabetic retinopathy