NOSIP
gene geneOn this page
Also known as CGI-25
Summary
NOSIP (nitric oxide synthase interacting protein, HGNC:17946) is a protein-coding gene on chromosome 19q13.33, encoding Nitric oxide synthase-interacting protein (Q9Y314). E3 ubiquitin-protein ligase that is essential for proper development of the forebrain, the eye, and the face.
The protein encoded by this gene may modulate the activity and localization of nitric oxide synthase (endothelial and neuronal) and thus nitric oxide production. Alternative splicing results in multiple transcript variants that encode the same protein.
Source: NCBI Gene 51070 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 53 total
- Druggable target: yes
- MANE Select transcript:
NM_001270960
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17946 |
| Approved symbol | NOSIP |
| Name | nitric oxide synthase interacting protein |
| Location | 19q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-25 |
| Ensembl gene | ENSG00000142546 |
| Ensembl biotype | protein_coding |
| OMIM | 616759 |
| Entrez | 51070 |
Gene structure
Transcript identifiers
Ensembl transcripts: 36 — 25 protein_coding, 8 retained_intron, 2 nonsense_mediated_decay, 1 non_stop_decay
ENST00000339093, ENST00000593345, ENST00000594932, ENST00000596358, ENST00000596477, ENST00000598296, ENST00000598544, ENST00000598550, ENST00000598820, ENST00000598839, ENST00000599425, ENST00000599537, ENST00000600019, ENST00000601015, ENST00000601107, ENST00000601340, ENST00000874162, ENST00000874163, ENST00000874164, ENST00000874165, ENST00000874166, ENST00000874167, ENST00000874168, ENST00000874169, ENST00000874170, ENST00000874171, ENST00000874172, ENST00000874173, ENST00000874174, ENST00000917073, ENST00000917074, ENST00000917075, ENST00000917076, ENST00000917077, ENST00000962184, ENST00000962185
RefSeq mRNA: 3 — MANE Select: NM_001270960
NM_001270960, NM_001363649, NM_015953
CCDS: CCDS12772, CCDS86789
Canonical transcript exons
ENST00000596358 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001377817 | 49580515 | 49580556 |
| ENSE00003498090 | 49560622 | 49560692 |
| ENSE00003499554 | 49559934 | 49560039 |
| ENSE00003511709 | 49556875 | 49556993 |
| ENSE00003562866 | 49558897 | 49558978 |
| ENSE00003568480 | 49557090 | 49557249 |
| ENSE00003631083 | 49556317 | 49556425 |
| ENSE00003791537 | 49556549 | 49556736 |
| ENSE00003896192 | 49555468 | 49555822 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 97.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 45.5923 / max 600.7309, expressed in 1824 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 182057 | 37.2294 | 1823 |
| 182054 | 2.4494 | 94 |
| 182058 | 2.4126 | 1446 |
| 182053 | 1.2812 | 727 |
| 182048 | 0.5428 | 133 |
| 182049 | 0.5056 | 77 |
| 182050 | 0.3527 | 61 |
| 182052 | 0.3217 | 99 |
| 182055 | 0.2422 | 64 |
| 182056 | 0.1698 | 66 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 97.99 | gold quality |
| granulocyte | CL:0000094 | 97.96 | gold quality |
| right testis | UBERON:0004534 | 97.85 | gold quality |
| body of pancreas | UBERON:0001150 | 96.87 | gold quality |
| triceps brachii | UBERON:0001509 | 96.77 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.71 | gold quality |
| blood | UBERON:0000178 | 96.63 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 96.43 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 96.19 | gold quality |
| testis | UBERON:0000473 | 96.17 | gold quality |
| gluteal muscle | UBERON:0002000 | 95.86 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.60 | gold quality |
| muscle of leg | UBERON:0001383 | 95.57 | gold quality |
| male germ cell | CL:0000015 | 95.37 | gold quality |
| sperm | CL:0000019 | 95.32 | gold quality |
| muscle organ | UBERON:0001630 | 95.28 | gold quality |
| vastus lateralis | UBERON:0001379 | 95.08 | gold quality |
| apex of heart | UBERON:0002098 | 94.99 | gold quality |
| lymph node | UBERON:0000029 | 94.97 | gold quality |
| pancreas | UBERON:0001264 | 94.95 | gold quality |
| quadriceps femoris | UBERON:0001377 | 94.74 | gold quality |
| spleen | UBERON:0002106 | 94.62 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.29 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 94.26 | gold quality |
| ectocervix | UBERON:0012249 | 94.15 | gold quality |
| endocervix | UBERON:0000458 | 94.14 | gold quality |
| amniotic fluid | UBERON:0000173 | 94.12 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.10 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 94.09 | gold quality |
| transverse colon | UBERON:0001157 | 94.09 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-4 | yes | 736.71 |
| E-MTAB-8911 | yes | 474.91 |
| E-CURD-122 | yes | 102.42 |
| E-CURD-88 | yes | 57.78 |
| E-HCAD-1 | yes | 30.54 |
| E-CURD-112 | yes | 9.27 |
| E-MTAB-7606 | no | 2754.76 |
| E-CURD-55 | no | 815.18 |
| E-CURD-77 | no | 718.63 |
| E-CURD-85 | no | 550.35 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
3 targeting NOSIP, 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-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-2116-5P | 99.32 | 69.34 | 1273 |
| HSA-MIR-6739-3P | 99.22 | 68.84 | 1843 |
Literature-anchored findings (GeneRIF, showing 5)
- endothelial nitric oxide synthase (eNOS) interacting protein (NOSIP), modulator of eNOS activity by alteration of eNOS subcellular localisation; high expression levels in endothelial cells and vascularized tissue. (PMID:11149895)
- Endogenous NOSIP reduces the enzymatic capacity of eNOS, specifically in the G(2) phase of the cell cycle by targeting eNOS to the actin cytoskeleton. (PMID:16135813)
- While NOSIP expression was increased in Hirschsprung’s disease (HSCR) vs. non- HSCR patients, no significant difference was observed in patients with Hirschsprung’s associated enterocolitis. The increased expression of NOSIP in the aganglionic and ganglionic bowel of HSCR may contribute to the development of enterocolitis by inhibiting local nitric oxide production in patients with Hirschsprung’s disease. (PMID:28196663)
- nNOS induction and NOSIP interaction impact granulopoiesis and neutrophil differentiation by modulating nitric oxide generation. (PMID:33771575)
- Transportin 1 is a major nuclear import receptor of the nitric oxide synthase interacting protein. (PMID:36690276)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nosip | ENSDARG00000037958 |
| mus_musculus | Nosip | ENSMUSG00000003421 |
| rattus_norvegicus | Nosip | ENSRNOG00000020543 |
| drosophila_melanogaster | CG6179 | FBGN0030915 |
| caenorhabditis_elegans | WBGENE00019898 |
Protein
Protein identifiers
Nitric oxide synthase-interacting protein — Q9Y314 (reviewed: Q9Y314)
Alternative names: E3 ubiquitin-protein ligase NOSIP, RING-type E3 ubiquitin transferase NOSIP, eNOS-interacting protein
All UniProt accessions (7): Q9Y314, A0A075B6F9, A0A075B797, M0QX85, M0R1K2, M0R1T7, M0R3B2
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin-protein ligase that is essential for proper development of the forebrain, the eye, and the face. Catalyzes monoubiquitination of serine/threonine-protein phosphatase 2A (PP2A) catalytic subunit PPP2CA/PPP2CB. Negatively regulates nitric oxide production by inducing NOS1 and NOS3 translocation to actin cytoskeleton and inhibiting their enzymatic activity.
Subunit / interactions. Interacts with NOS1 and NOS3. Interacts with PP2A holoenzyme, containing PPP2CA, PPP2CB, PPP2R1A and PPP2R2A subunits.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Expressed in heart, brain and lung. Present in endothelial cells (at protein level).
Domain organisation. The U-box-like region is a truncated U-box domain. It is unknown whether it is functional or not.
Similarity. Belongs to the NOSIP family.
RefSeq proteins (3): NP_001257889, NP_001350578, NP_057037 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR016818 | NOSIP | Family |
| IPR031790 | Znf-NOSIP | Domain |
Pfam: PF15906
UniProt features (7 total): region of interest 2, modified residue 2, chain 1, short sequence motif 1, sequence variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8C6J | ELECTRON MICROSCOPY | 2.8 |
| 9FMD | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y314-F1 | 82.04 | 0.47 |
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): 36, 107
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-203754 | NOSIP mediated eNOS trafficking |
MSigDB gene sets: 206 (showing top):
AREB6_01, GOBP_REGULATION_OF_OXIDOREDUCTASE_ACTIVITY, CAGCTG_AP4_Q5, GOBP_REGULATION_OF_NITRIC_OXIDE_SYNTHASE_ACTIVITY, GOBP_REACTIVE_NITROGEN_SPECIES_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_OXIDOREDUCTASE_ACTIVITY, BLALOCK_ALZHEIMERS_DISEASE_UP, JAZAG_TGFB1_SIGNALING_VIA_SMAD4_UP, GOBP_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION, HP1SITEFACTOR_Q6, GOBP_NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY, LIU_CMYB_TARGETS_UP, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, CETS1P54_01, OSMAN_BLADDER_CANCER_DN
GO Biological Process (5): negative regulation of catalytic activity (GO:0043086), regulation of nitric oxide biosynthetic process (GO:0045428), nitric oxide metabolic process (GO:0046209), negative regulation of nitric-oxide synthase activity (GO:0051001), protein ubiquitination (GO:0016567)
GO Molecular Function (6): RNA binding (GO:0003723), ubiquitin protein ligase activity (GO:0061630), molecular sequestering activity (GO:0140313), ubiquitin-protein transferase activity (GO:0004842), protein binding (GO:0005515), transferase activity (GO:0016740)
GO Cellular Component (5): Golgi membrane (GO:0000139), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of nitric oxide: NOS3 activation and regulation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| catalytic activity | 2 |
| negative regulation of molecular function | 1 |
| regulation of catalytic activity | 1 |
| nitric oxide biosynthetic process | 1 |
| regulation of biosynthetic process | 1 |
| regulation of nitric oxide metabolic process | 1 |
| reactive nitrogen species metabolic process | 1 |
| nitric-oxide synthase activity | 1 |
| regulation of nitric-oxide synthase activity | 1 |
| negative regulation of oxidoreductase activity | 1 |
| protein modification by small protein conjugation | 1 |
| nucleic acid binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| molecular_function | 1 |
| ubiquitin-like protein transferase activity | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
962 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NOSIP | NOS3 | P29474 | 961 |
| NOSIP | NOSTRIN | Q8IVI9 | 675 |
| NOSIP | CAV1 | Q03135 | 627 |
| NOSIP | NOS1 | P29475 | 538 |
| NOSIP | PRRG2 | O14669 | 523 |
| NOSIP | DNM2 | P50570 | 523 |
| NOSIP | HSP90AA1 | P07900 | 521 |
| NOSIP | HSP90AB1 | P08238 | 520 |
| NOSIP | PRKG1 | P14619 | 509 |
| NOSIP | C9orf78 | Q9NZ63 | 455 |
| NOSIP | RCN3 | Q96D15 | 452 |
| NOSIP | NOS1AP | O75052 | 442 |
| NOSIP | ERBB2 | P04626 | 402 |
| NOSIP | RPL13A | P40429 | 396 |
| NOSIP | FAM20C | Q8IXL6 | 395 |
IntAct
32 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF410 | NOSIP | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOSIP | TNNC2 | psi-mi:“MI:0914”(association) | 0.530 |
| OTUB1 | psi-mi:“MI:0914”(association) | 0.350 | |
| OTUB1 | EPM2A | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| RRP1B | ZNF785 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| POLL | SULT1C2 | psi-mi:“MI:0914”(association) | 0.350 |
| NEU2 | PEX14 | psi-mi:“MI:0914”(association) | 0.350 |
| RASGRF2 | SNRPA | psi-mi:“MI:0914”(association) | 0.350 |
| CEP135 | MCRIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP135 | WWP2 | psi-mi:“MI:0914”(association) | 0.350 |
| CEP135 | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| CAPZB | ENAH | psi-mi:“MI:0914”(association) | 0.350 |
| S100P | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| HAP1 | PPP1R12A | psi-mi:“MI:0914”(association) | 0.350 |
| LMNA | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TP53BP1 | PSMD14 | psi-mi:“MI:2364”(proximity) | 0.270 |
| KLF16 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| HNRNPC | SBNO1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| PPIL4 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ZRANB2 | SBNO1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| NPM1 | SBNO1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| NOSIP | BCAR3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (136): NOSIP (Affinity Capture-MS), NOSIP (Affinity Capture-MS), NOSIP (Affinity Capture-MS), TNNC2 (Affinity Capture-MS), NOSIP (Affinity Capture-MS), HMCES (Co-fractionation), NOSIP (Co-fractionation), NOSIP (Co-fractionation), NOSIP (Co-fractionation), NOSIP (Affinity Capture-MS), NOSIP (Affinity Capture-MS), NOSIP (Affinity Capture-MS), PPP2CA (Affinity Capture-MS), PPP2CB (Affinity Capture-MS), PPP2R1A (Affinity Capture-MS)
ESM2 similar proteins: A6SGN8, A7EWN6, B4I9X1, B4NTY9, O43395, O60869, O60870, O64981, O70333, P10871, P10896, P31753, P93431, Q1WCC0, Q2KIA6, Q32LC9, Q3SWY5, Q3T0V7, Q3ZC66, Q40073, Q4R7H4, Q567Z6, Q5R5F1, Q5U5C5, Q5ZJ85, Q5ZKB6, Q5ZMC0, Q6F444, Q6FJN0, Q6NU28, Q6NVP6, Q6P829, Q792Q4, Q7SXM7, Q7ZTZ2, Q8BFR6, Q8CCF0, Q8ISQ3, Q8K339, Q8TCF1
Diamond homologs: Q21755, Q3SWY5, Q4R7H4, Q5U3S7, Q6NUH3, Q6P829, Q9D6T0, Q9VWV8, Q9Y314, Q9SY88, Q55DU4, Q2U5W8, Q4WVU5
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NOSIP | “down-regulates quantity by destabilization” | PPP2CA | ubiquitination |
| NOSIP | “up-regulates activity” | EPOR | ubiquitination |
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 | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2754 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:49556311:TCTTA:T | donor_loss | 1.0000 |
| 19:49556312:CTTAC:C | donor_loss | 1.0000 |
| 19:49556313:TTACC:T | donor_loss | 1.0000 |
| 19:49556314:TAC:T | donor_loss | 1.0000 |
| 19:49556315:A:AC | donor_gain | 1.0000 |
| 19:49556315:AC:A | donor_gain | 1.0000 |
| 19:49556315:ACC:A | donor_gain | 1.0000 |
| 19:49556315:ACCCG:A | donor_gain | 1.0000 |
| 19:49556316:C:CC | donor_gain | 1.0000 |
| 19:49556316:CC:C | donor_gain | 1.0000 |
| 19:49556316:CCC:C | donor_gain | 1.0000 |
| 19:49556316:CCCG:C | donor_gain | 1.0000 |
| 19:49556316:CCCGC:C | donor_gain | 1.0000 |
| 19:49556421:CCCCA:C | acceptor_gain | 1.0000 |
| 19:49556422:CCCA:C | acceptor_gain | 1.0000 |
| 19:49556422:CCCAC:C | acceptor_gain | 1.0000 |
| 19:49556423:CCA:C | acceptor_gain | 1.0000 |
| 19:49556423:CCAC:C | acceptor_gain | 1.0000 |
| 19:49556424:CA:C | acceptor_gain | 1.0000 |
| 19:49556424:CAC:C | acceptor_gain | 1.0000 |
| 19:49556426:C:CC | acceptor_gain | 1.0000 |
| 19:49556438:C:T | acceptor_gain | 1.0000 |
| 19:49556547:A:AC | donor_gain | 1.0000 |
| 19:49556548:C:CT | donor_gain | 1.0000 |
| 19:49556548:CG:C | donor_gain | 1.0000 |
| 19:49556732:CGGGA:C | acceptor_gain | 1.0000 |
| 19:49556733:GGGA:G | acceptor_gain | 1.0000 |
| 19:49556734:GGA:G | acceptor_gain | 1.0000 |
| 19:49556735:GA:G | acceptor_gain | 1.0000 |
| 19:49556735:GACTG:G | acceptor_loss | 1.0000 |
AlphaMissense
1937 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:49560024:C:T | G29E | 1.000 |
| 19:49560638:C:A | E18D | 1.000 |
| 19:49560638:C:G | E18D | 1.000 |
| 19:49560652:A:G | Y14H | 1.000 |
| 19:49560682:G:C | H4D | 1.000 |
| 19:49555808:G:C | F283L | 0.999 |
| 19:49555808:G:T | F283L | 0.999 |
| 19:49555810:A:G | F283L | 0.999 |
| 19:49556414:A:T | V246D | 0.999 |
| 19:49556607:A:G | C223R | 0.999 |
| 19:49556923:C:A | W163C | 0.999 |
| 19:49556923:C:G | W163C | 0.999 |
| 19:49556925:A:G | W163R | 0.999 |
| 19:49556925:A:T | W163R | 0.999 |
| 19:49556926:G:C | F162L | 0.999 |
| 19:49556926:G:T | F162L | 0.999 |
| 19:49556928:A:G | F162L | 0.999 |
| 19:49558970:C:T | G62D | 0.999 |
| 19:49559972:A:C | C46W | 0.999 |
| 19:49559974:A:G | C46R | 0.999 |
| 19:49559995:C:G | A39P | 0.999 |
| 19:49560025:C:A | G29W | 0.999 |
| 19:49560025:C:G | G29R | 0.999 |
| 19:49560025:C:T | G29R | 0.999 |
| 19:49560626:G:C | D22E | 0.999 |
| 19:49560626:G:T | D22E | 0.999 |
| 19:49560628:C:G | D22H | 0.999 |
| 19:49560639:T:A | E18V | 0.999 |
| 19:49560640:C:T | E18K | 0.999 |
| 19:49560648:G:A | T15I | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000145770 (19:49572268 G>C), RS1000148676 (19:49562154 T>C), RS1000256329 (19:49566342 C>T), RS1000273297 (19:49567254 C>T), RS1000332089 (19:49580610 C>T), RS1000542503 (19:49554972 G>A), RS1000546902 (19:49561241 T>C), RS1000834611 (19:49574844 C>T), RS1000883726 (19:49578734 C>T), RS1001051476 (19:49555690 G>A,T), RS1001089700 (19:49566524 C>T), RS1001200175 (19:49571069 T>C,G), RS1001352604 (19:49555482 C>A,T), RS1001481452 (19:49576975 G>T), RS1001661280 (19:49565194 C>T)
Disease associations
OMIM: gene MIM:616759 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002539_91 | Schizophrenia | 5.000000e-08 |
| GCST004601_194 | Red blood cell count | 8.000000e-12 |
| GCST004604_44 | Hematocrit | 1.000000e-10 |
| GCST008155_28 | Waist-hip ratio | 2.000000e-06 |
| GCST008159_53 | Waist-to-hip ratio adjusted for BMI | 3.000000e-06 |
| GCST90002383_293 | Hematocrit | 1.000000e-18 |
| GCST90002384_467 | Hemoglobin | 4.000000e-21 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004305 | erythrocyte count |
| EFO:0004348 | hematocrit |
| EFO:0004343 | waist-hip ratio |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0004509 | hemoglobin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724614 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Valproic Acid | increases methylation, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| bisphenol A | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| LDN 193189 | decreases expression, affects cotreatment | 1 |
| (+)-JQ1 compound | 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 | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Copper | affects binding, decreases expression | 1 |
| Disulfiram | affects binding, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | increases expression | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697276 | Binding | Inhibition of NOSIP (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3CL | Abcam HEK293T NOSIP KO | Transformed 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.