CYTIP
gene geneOn this page
Also known as B3-1HECYBRCASPCYTHIP
Summary
CYTIP (cytohesin 1 interacting protein, HGNC:9506) is a protein-coding gene on chromosome 2q24.1, encoding Cytohesin-interacting protein (O60759). By its binding to cytohesin-1 (CYTH1), it modifies activation of ARFs by CYTH1 and its precise function may be to sequester CYTH1 in the cytoplasm.
The protein encoded by this gene contains 2 leucine zipper domains and a putative C-terminal nuclear targeting signal, but does not have any hydrophobic regions. This protein is expressed weakly in resting NK and T cells. The encoded protein modulates the activation of ARF genes by CYTH1. This protein interacts with CYTH1 and SNX27 proteins and may act to sequester CYTH1 protein in the cytoplasm.
Source: NCBI Gene 9595 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 59 total — 1 pathogenic
- MANE Select transcript:
NM_004288
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9506 |
| Approved symbol | CYTIP |
| Name | cytohesin 1 interacting protein |
| Location | 2q24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | B3-1, HE, CYBR, CASP, CYTHIP |
| Ensembl gene | ENSG00000115165 |
| Ensembl biotype | protein_coding |
| OMIM | 604448 |
| Entrez | 9595 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000264192, ENST00000418920, ENST00000435117, ENST00000439355, ENST00000457793, ENST00000462109, ENST00000483929, ENST00000497432, ENST00000715893
RefSeq mRNA: 1 — MANE Select: NM_004288
NM_004288
CCDS: CCDS2204
Canonical transcript exons
ENST00000264192 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003470059 | 157427351 | 157427420 |
| ENSE00003527985 | 157434370 | 157434424 |
| ENSE00003591902 | 157430559 | 157430652 |
| ENSE00003592117 | 157418523 | 157418589 |
| ENSE00003631586 | 157430860 | 157430962 |
| ENSE00003648172 | 157434698 | 157434747 |
| ENSE00004028266 | 157443847 | 157444089 |
| ENSE00004028268 | 157414619 | 157416143 |
Expression profiles
Bgee: expression breadth ubiquitous, 242 present calls, max score 98.33.
FANTOM5 (CAGE): breadth broad, TPM avg 68.6237 / max 6897.0224, expressed in 540 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 31399 | 59.2705 | 496 |
| 31398 | 7.7354 | 340 |
| 31397 | 0.8976 | 175 |
| 31389 | 0.3083 | 83 |
| 31405 | 0.2350 | 51 |
| 31390 | 0.1073 | 62 |
| 31391 | 0.0525 | 31 |
| 31404 | 0.0171 | 11 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood | UBERON:0000178 | 98.33 | gold quality |
| bone marrow cell | CL:0002092 | 96.38 | gold quality |
| leukocyte | CL:0000738 | 96.33 | gold quality |
| monocyte | CL:0000576 | 96.32 | gold quality |
| mononuclear cell | CL:0000842 | 96.31 | gold quality |
| vermiform appendix | UBERON:0001154 | 96.25 | gold quality |
| bone marrow | UBERON:0002371 | 95.45 | gold quality |
| lymph node | UBERON:0000029 | 95.40 | gold quality |
| granulocyte | CL:0000094 | 94.39 | gold quality |
| colonic epithelium | UBERON:0000397 | 93.84 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 92.95 | gold quality |
| nasopharynx | UBERON:0001728 | 92.94 | gold quality |
| spleen | UBERON:0002106 | 92.40 | gold quality |
| caecum | UBERON:0001153 | 91.96 | gold quality |
| tonsil | UBERON:0002372 | 91.84 | gold quality |
| jejunal mucosa | UBERON:0000399 | 88.33 | gold quality |
| periodontal ligament | UBERON:0008266 | 86.92 | gold quality |
| right lung | UBERON:0002167 | 86.78 | gold quality |
| pylorus | UBERON:0001166 | 86.65 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 86.01 | gold quality |
| rectum | UBERON:0001052 | 85.93 | gold quality |
| duodenum | UBERON:0002114 | 85.69 | gold quality |
| upper lobe of lung | UBERON:0008948 | 85.48 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 85.42 | gold quality |
| amniotic fluid | UBERON:0000173 | 84.20 | gold quality |
| parotid gland | UBERON:0001831 | 84.18 | gold quality |
| gall bladder | UBERON:0002110 | 84.12 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 84.10 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 83.57 | gold quality |
| small intestine | UBERON:0002108 | 83.45 | gold quality |
Single-cell (SCXA)
Detected in 18 experiment(s), a significant marker in 18.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8142 | yes | 1410.42 |
| E-HCAD-36 | yes | 863.82 |
| E-CURD-79 | yes | 577.40 |
| E-GEOD-135922 | yes | 384.61 |
| E-HCAD-8 | yes | 88.93 |
| E-HCAD-1 | yes | 86.64 |
| E-CURD-122 | yes | 48.25 |
| E-CURD-46 | yes | 40.53 |
| E-MTAB-8410 | yes | 38.72 |
| E-CURD-88 | yes | 36.79 |
| E-MTAB-10287 | yes | 30.01 |
| E-HCAD-10 | yes | 23.22 |
| E-HCAD-11 | yes | 21.50 |
| E-MTAB-10553 | yes | 13.82 |
| E-MTAB-8498 | yes | 8.86 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
82 targeting CYTIP, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
Literature-anchored findings (GeneRIF, showing 7)
- observations suggest that CASP is a scaffolding protein that facilitates the function of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli (PMID:12052827)
- Cybr not only regulates lymphocyte adhesion and cell-cell interaction but also contributes to the regulation of the signaling cascade and of the genetic program downstream of the T cell receptor. (PMID:16702224)
- These results suggest that endosomal SNX27 may recruit CASP to orchestrate intracellular trafficking and/or signaling complexes. (PMID:17577583)
- on infection of human monocyte-derived dendritic cells with herpes simplex virus type 1 (HSV-1), CYTIP is rapidly degraded and as a consequence beta-2 integrins, predominantly LFA-1, are activated (PMID:21562043)
- loss of DNA methylation enables HIF-driven cytohesin 1 interacting protein expression to protect cancer cells from death cytokine signals (PMID:23223005)
- a newly identified binding partner of CYTIP, SOCS-1, and confirm its function in regulating the degradation of CYTIP by the proteasome (PMID:23469018)
- CASP has a direct role in the secretion of IFN-gamma, and NK cell motility and ability to kill tumor cells. CASP polarizes to the leading edge of migrating NK cells, and to the immunological synapse when engaged with tumor cells. (PMID:25058460)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cytip | ENSDARG00000061717 |
| mus_musculus | Cytip | ENSMUSG00000026832 |
| rattus_norvegicus | Cytip | ENSRNOG00000004772 |
| drosophila_melanogaster | ssp6 | FBGN0035676 |
| caenorhabditis_elegans | gras-1 | WBGENE00009272 |
Paralogs (1): TAMALIN (ENSG00000161835)
Protein
Protein identifiers
Cytohesin-interacting protein — O60759 (reviewed: O60759)
Alternative names: Cytohesin binder and regulator, Cytohesin-associated scaffolding protein, Cytohesin-binding protein HE, Pleckstrin homology Sec7 and coiled-coil domains-binding protein
All UniProt accessions (5): C9JNN8, C9JRF8, C9JSM2, O60759, F8WF61
UniProt curated annotations — full annotation on UniProt →
Function. By its binding to cytohesin-1 (CYTH1), it modifies activation of ARFs by CYTH1 and its precise function may be to sequester CYTH1 in the cytoplasm.
Subunit / interactions. Interacts with CYTH1 and SNX27.
Subcellular location. Cytoplasm. Early endosome.
Tissue specificity. Expressed in lymph nodes, thymus, spleen, lung, peripheral blood leukocytes and bone marrow.
Induction. By TNF and bacterial lipopolysaccharides (LPS).
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O60759-1 | 1 | yes |
| O60759-2 | 2 |
RefSeq proteins (1): NP_004279* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001478 | PDZ | Domain |
| IPR036034 | PDZ_sf | Homologous_superfamily |
| IPR052122 | Intracell_Traff_Signaling_Reg | Family |
Pfam: PF00595
UniProt features (21 total): strand 5, mutagenesis site 3, sequence variant 3, sequence conflict 2, helix 2, chain 1, domain 1, turn 1, region of interest 1, coiled-coil region 1, splice variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2Z17 | X-RAY DIFFRACTION | 2.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60759-F1 | 63.24 | 0.27 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 92 | no membrane-association. no change in the binding to cyth1; when associated with e-82 and a-90. |
| 82 | no membrane-association. no change in the binding to cyth1; when associated with a-90 and a-92. |
| 90 | no membrane-association. no change in the binding to cyth1; when associated with e-82 and a-92. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 300 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, WALLACE_PROSTATE_CANCER_RACE_UP, MCLACHLAN_DENTAL_CARIES_UP, GNF2_CASP8, RACCACAR_AML_Q6, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, LINDSTEDT_DENDRITIC_CELL_MATURATION_B, RHEIN_ALL_GLUCOCORTICOID_THERAPY_UP, AML_Q6, chr2q24, SU_THYMUS, LEE_EARLY_T_LYMPHOCYTE_DN, ONDER_CDH1_TARGETS_2_UP, GNF2_CD97, COATES_MACROPHAGE_M1_VS_M2_DN
GO Biological Process (1): regulation of cell adhesion (GO:0030155)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), early endosome (GO:0005769), cytosol (GO:0005829), cell cortex (GO:0005938), endosome (GO:0005768)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoplasm | 2 |
| cell adhesion | 1 |
| regulation of cellular process | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| endosome | 1 |
| cell periphery | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
Protein interactions and networks
STRING
1542 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CYTIP | SNX27 | Q96L92 | 957 |
| CYTIP | CYTH1 | Q15438 | 936 |
| CYTIP | CYTH3 | O43739 | 747 |
| CYTIP | SERPINB3 | P29508 | 742 |
| CYTIP | DGKZ | Q13574 | 713 |
| CYTIP | RAB11A | P24410 | 497 |
| CYTIP | TFRC | P02786 | 423 |
| CYTIP | SERPINE2 | P07093 | 365 |
| CYTIP | TMEM86A | Q8N2M4 | 351 |
| CYTIP | LHFPL2 | Q6ZUX7 | 322 |
| CYTIP | GPR157 | Q5UAW9 | 318 |
| CYTIP | SNX1 | Q13596 | 317 |
| CYTIP | SLCO6A1 | Q86UG4 | 314 |
| CYTIP | GPA33 | Q99795 | 293 |
| CYTIP | LZTS2 | Q9BRK4 | 293 |
| CYTIP | RPP21 | Q9H633 | 293 |
IntAct
184 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CYTIP | CYTH1 | psi-mi:“MI:0915”(physical association) | 0.810 |
| CYTIP | SCNM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYTIP | MCRS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYTIP | KIF9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYTIP | FGFR3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYTIP | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYTIP | SNX27 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| NHERF2 | CYTIP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CYTIP | SHANK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAST2 | CYTIP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CYTIP | RHPN1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CYTIP | PDZK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CYTIP | PARD3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PARD3B | CYTIP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CYTIP | MAST1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CYTIP | PTPN3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| APBA3 | CYTIP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CYTIP | AHNAK | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CYTIP | APBA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CYTIP | APBA2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CYTIP | ARHGAP21 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CYTIP | ARHGEF11 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CYTIP | CARD11 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (34): CYTH3 (Affinity Capture-MS), CYTH1 (Affinity Capture-MS), CYTH2 (Affinity Capture-MS), BLK (Affinity Capture-MS), FAM175B (Affinity Capture-MS), EDEM2 (Affinity Capture-MS), HBB (Affinity Capture-MS), CYTH1 (Affinity Capture-MS), CYTH3 (Affinity Capture-MS), CYTH2 (Affinity Capture-MS), FAM175B (Affinity Capture-MS), EDEM2 (Affinity Capture-MS), HBB (Affinity Capture-MS), CYTIP (Affinity Capture-MS), CYTIP (Affinity Capture-MS)
ESM2 similar proteins: A1A5G4, D3YZU1, E9Q9R9, F1MAD2, O15018, O35346, O35867, O60759, P34152, P97306, P97879, Q00944, Q4L1J4, Q5F488, Q5I0L6, Q5JV73, Q5RD32, Q5SGD7, Q5TCQ9, Q68DX3, Q69Z98, Q6DD51, Q6P9H4, Q6RHR9, Q6ZWJ1, Q812E4, Q8BH60, Q8BMA3, Q8IWQ3, Q8TDM6, Q8TDW5, Q8TEW0, Q8TEW8, Q91VY6, Q925T6, Q96QZ7, Q99469, Q99NH2, Q9CSB4, Q9EQJ9
Diamond homologs: O15021, O60307, O60759, Q3T0X8, Q3U214, Q4ACU6, Q4L1J4, Q5I0L6, Q5RCF7, Q5T2W1, Q69ZH9, Q6AX33, Q6AYQ0, Q6RHR9, Q7Z6J2, Q811L6, Q865P3, Q8R4T5, Q91VY6, Q96QZ7, Q9BYB0, Q9JIL4, Q9JJ40, Q9JJA9, Q9JLU4, Q9P227, A1ZA47, A2RUV4, A4D2P6, A5PKA5, A8MUH7, B9EJ80, D3YZU1, D3ZFD0, G5EDM4, O14745, O14907, O14910, O15085, O88951
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 115 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 |
|---|---|---|---|
| Ras activation upon Ca2+ influx through NMDA receptor | 5 | 38.6× | 9e-06 |
| Unblocking of NMDA receptors, glutamate binding and activation | 5 | 36.7× | 9e-06 |
| Negative regulation of NMDA receptor-mediated neuronal transmission | 5 | 36.7× | 9e-06 |
| Assembly and cell surface presentation of NMDA receptors | 10 | 34.3× | 3e-11 |
| Dopamine Neurotransmitter Release Cycle | 5 | 33.5× | 1e-05 |
| Long-term potentiation | 5 | 32.1× | 1e-05 |
| Neurexins and neuroligins | 11 | 29.3× | 2e-11 |
| Protein-protein interactions at synapses | 7 | 25.1× | 1e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 11 | 59.7× | 9e-15 |
| protein localization to synapse | 6 | 43.0× | 7e-07 |
| receptor clustering | 7 | 40.8× | 9e-08 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 7 | 32.4× | 4e-07 |
| protein-containing complex assembly | 9 | 9.6× | 3e-05 |
| cell-cell adhesion | 10 | 9.5× | 1e-05 |
| regulation of small GTPase mediated signal transduction | 6 | 8.1× | 3e-03 |
| chemical synaptic transmission | 7 | 5.1× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
59 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 44 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2684808 | GRCh37/hg19 2q24.1(chr2:156828817-158377885)x1 | Pathogenic |
SpliceAI
978 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:157418598:T:TC | acceptor_gain | 1.0000 |
| 2:157427426:T:C | acceptor_gain | 1.0000 |
| 2:157430557:A:AC | donor_gain | 1.0000 |
| 2:157430558:C:CC | donor_gain | 1.0000 |
| 2:157434743:GCAAG:G | acceptor_gain | 1.0000 |
| 2:157434744:CAAG:C | acceptor_gain | 1.0000 |
| 2:157434744:CAAGC:C | acceptor_gain | 1.0000 |
| 2:157434748:C:CC | acceptor_gain | 1.0000 |
| 2:157443843:ATAC:A | donor_loss | 1.0000 |
| 2:157443844:TACCT:T | donor_loss | 1.0000 |
| 2:157443846:C:CT | donor_loss | 1.0000 |
| 2:157443846:CCTG:C | donor_gain | 1.0000 |
| 2:157418585:GTTTG:G | acceptor_gain | 0.9900 |
| 2:157418586:TTTG:T | acceptor_gain | 0.9900 |
| 2:157418590:C:CC | acceptor_gain | 0.9900 |
| 2:157418598:T:C | acceptor_gain | 0.9900 |
| 2:157427346:ATTAC:A | donor_loss | 0.9900 |
| 2:157427347:TTAC:T | donor_loss | 0.9900 |
| 2:157427348:TA:T | donor_loss | 0.9900 |
| 2:157427349:A:C | donor_loss | 0.9900 |
| 2:157427350:C:A | donor_loss | 0.9900 |
| 2:157427353:TTAAA:T | donor_gain | 0.9900 |
| 2:157427416:CTATC:C | acceptor_gain | 0.9900 |
| 2:157427419:TC:T | acceptor_gain | 0.9900 |
| 2:157427420:CC:C | acceptor_gain | 0.9900 |
| 2:157427421:C:CA | acceptor_loss | 0.9900 |
| 2:157427421:C:CC | acceptor_gain | 0.9900 |
| 2:157427422:T:A | acceptor_loss | 0.9900 |
| 2:157427426:T:TC | acceptor_gain | 0.9900 |
| 2:157430563:G:C | donor_gain | 0.9900 |
AlphaMissense
2376 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:157434380:A:G | F90S | 0.997 |
| 2:157430586:A:G | L150P | 0.994 |
| 2:157430883:G:T | A120D | 0.992 |
| 2:157434379:A:C | F90L | 0.992 |
| 2:157434379:A:T | F90L | 0.992 |
| 2:157434381:A:G | F90L | 0.992 |
| 2:157430562:A:G | L158P | 0.991 |
| 2:157430868:A:G | L125P | 0.991 |
| 2:157434383:C:T | G89E | 0.991 |
| 2:157434385:A:C | F88L | 0.990 |
| 2:157434385:A:T | F88L | 0.990 |
| 2:157434387:A:G | F88L | 0.990 |
| 2:157415723:A:G | I345T | 0.989 |
| 2:157418552:A:G | L195P | 0.987 |
| 2:157430631:T:A | N135I | 0.986 |
| 2:157430643:A:T | L131H | 0.986 |
| 2:157430888:G:C | S118R | 0.986 |
| 2:157430888:G:T | S118R | 0.986 |
| 2:157430890:T:G | S118R | 0.986 |
| 2:157434380:A:C | F90C | 0.984 |
| 2:157415723:A:T | I345N | 0.983 |
| 2:157430583:A:T | I151N | 0.983 |
| 2:157430634:A:T | I134N | 0.982 |
| 2:157430643:A:C | L131R | 0.982 |
| 2:157434384:C:G | G89R | 0.982 |
| 2:157434384:C:T | G89R | 0.982 |
| 2:157430634:A:C | I134S | 0.981 |
| 2:157430630:A:C | N135K | 0.980 |
| 2:157430630:A:T | N135K | 0.980 |
| 2:157415725:A:C | F344L | 0.979 |
dbSNP variants (sampled 300 via entrez): RS1000233226 (2:157414589 G>GAC), RS1000238425 (2:157443719 A>T), RS1000464971 (2:157420854 G>A,C), RS1000670294 (2:157414861 G>A), RS1000696968 (2:157426249 G>A), RS1000752363 (2:157432236 C>G), RS1000764716 (2:157427711 T>C), RS1000973584 (2:157438871 A>C,G), RS1001117582 (2:157431733 C>A), RS1001183565 (2:157422871 A>G), RS1001218448 (2:157440202 A>G), RS1001358530 (2:157425863 T>C), RS1001435889 (2:157429044 T>C), RS1001460042 (2:157439768 A>G), RS1001504299 (2:157415505 A>G)
Disease associations
OMIM: gene MIM:604448 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008972_202 | Urate levels | 1.000000e-11 |
| GCST009379_238 | Type 2 diabetes | 7.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases methylation, decreases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | decreases methylation, affects methylation, decreases expression | 2 |
| Dinitrochlorobenzene | increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | decreases expression | 1 |
| kojic acid | increases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| ammonium hexachloroplatinate | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| 4-phenylenediamine | increases expression | 1 |
| nickel sulfate | increases expression | 1 |
| pentanal | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| ON 01910 | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Bortezomib | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Air Pollutants, Occupational | affects expression | 1 |
| Aldehydes | decreases expression | 1 |
| Cisplatin | increases expression | 1 |
| Dinitrofluorobenzene | increases expression | 1 |
| Diuron | decreases expression | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Dust | 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.