FXYD5
gene geneOn this page
Also known as OIT2
Summary
FXYD5 (FXYD domain containing ion transport regulator 5, HGNC:4029) is a protein-coding gene on chromosome 19q13.12, encoding FXYD domain-containing ion transport regulator 5 (Q96DB9). Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane.
This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, is a glycoprotein that functions in the up-regulation of chemokine production, and it is involved in the reduction of cell adhesion via its ability to down-regulate E-cadherin. It also promotes metastasis, and has been linked to a variety of cancers. Alternative splicing results in multiple transcript variants. [RefSeq curation by Kathleen J. Sweadner, Ph.D., [email protected]., Sep 2009]
Source: NCBI Gene 53827 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 52 total
- MANE Select transcript:
NM_014164
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4029 |
| Approved symbol | FXYD5 |
| Name | FXYD domain containing ion transport regulator 5 |
| Location | 19q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | OIT2 |
| Ensembl gene | ENSG00000089327 |
| Ensembl biotype | protein_coding |
| OMIM | 606669 |
| Entrez | 53827 |
Gene structure
Transcript identifiers
Ensembl transcripts: 41 — 37 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000342879, ENST00000392217, ENST00000392218, ENST00000392219, ENST00000423817, ENST00000496493, ENST00000541435, ENST00000543307, ENST00000586925, ENST00000588699, ENST00000590686, ENST00000591716, ENST00000592290, ENST00000718431, ENST00000876479, ENST00000876480, ENST00000876481, ENST00000876482, ENST00000876483, ENST00000876484, ENST00000876485, ENST00000922558, ENST00000922559, ENST00000922560, ENST00000922561, ENST00000922562, ENST00000922563, ENST00000922564, ENST00000922565, ENST00000922566, ENST00000922567, ENST00000922568, ENST00000922569, ENST00000922570, ENST00000922571, ENST00000922572, ENST00000922573, ENST00000922574, ENST00000922575, ENST00000922576, ENST00000922577
RefSeq mRNA: 5 — MANE Select: NM_014164
NM_001164605, NM_001320912, NM_001320913, NM_014164, NM_144779
CCDS: CCDS12447, CCDS82328
Canonical transcript exons
ENST00000392219 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002740456 | 35155551 | 35155611 |
| ENSE00003530382 | 35158344 | 35158400 |
| ENSE00003546265 | 35160709 | 35160801 |
| ENSE00003552113 | 35157421 | 35157501 |
| ENSE00003553308 | 35166142 | 35166171 |
| ENSE00003574340 | 35166251 | 35166325 |
| ENSE00003622246 | 35164156 | 35164245 |
| ENSE00004035068 | 35169566 | 35169881 |
| ENSE00004035070 | 35154735 | 35154809 |
Expression profiles
Bgee: expression breadth ubiquitous, 241 present calls, max score 99.49.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 404.1695 / max 6806.4813, expressed in 1814 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 175237 | 391.7078 | 1814 |
| 175240 | 7.2216 | 1154 |
| 175242 | 1.5129 | 800 |
| 175238 | 1.3806 | 693 |
| 175241 | 1.2701 | 479 |
| 175244 | 0.7327 | 412 |
| 175239 | 0.3438 | 188 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 99.49 | gold quality |
| leukocyte | CL:0000738 | 98.98 | gold quality |
| monocyte | CL:0000576 | 98.95 | gold quality |
| mononuclear cell | CL:0000842 | 98.94 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.82 | gold quality |
| ectocervix | UBERON:0012249 | 98.59 | gold quality |
| spleen | UBERON:0002106 | 98.54 | gold quality |
| right lung | UBERON:0002167 | 98.48 | gold quality |
| omental fat pad | UBERON:0010414 | 98.41 | gold quality |
| ascending aorta | UBERON:0001496 | 98.38 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.38 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.37 | gold quality |
| endocervix | UBERON:0000458 | 98.36 | gold quality |
| peritoneum | UBERON:0002358 | 98.35 | gold quality |
| right coronary artery | UBERON:0001625 | 98.20 | gold quality |
| bone marrow cell | CL:0002092 | 98.16 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 97.99 | gold quality |
| left coronary artery | UBERON:0001626 | 97.85 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 97.83 | gold quality |
| blood | UBERON:0000178 | 97.78 | gold quality |
| lymph node | UBERON:0000029 | 97.71 | gold quality |
| upper lobe of lung | UBERON:0008948 | 97.49 | gold quality |
| left uterine tube | UBERON:0001303 | 97.40 | gold quality |
| coronary artery | UBERON:0001621 | 97.35 | gold quality |
| tibial nerve | UBERON:0001323 | 97.15 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 97.13 | gold quality |
| gall bladder | UBERON:0002110 | 96.97 | gold quality |
| body of uterus | UBERON:0009853 | 96.84 | gold quality |
| aorta | UBERON:0000947 | 96.81 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.63 | gold quality |
Single-cell (SCXA)
Detected in 38 experiment(s), a significant marker in 28.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-122 | yes | 1806.65 |
| E-MTAB-8142 | yes | 1772.51 |
| E-HCAD-1 | yes | 1271.86 |
| E-GEOD-111727 | yes | 897.56 |
| E-CURD-98 | yes | 799.19 |
| E-HCAD-10 | yes | 612.37 |
| E-GEOD-130473 | yes | 258.97 |
| E-GEOD-81608 | yes | 250.82 |
| E-HCAD-4 | yes | 105.90 |
| E-MTAB-6701 | yes | 76.50 |
| E-HCAD-8 | yes | 69.49 |
| E-MTAB-10287 | yes | 67.43 |
| E-CURD-88 | yes | 48.56 |
| E-GEOD-134144 | yes | 39.55 |
| E-MTAB-8410 | yes | 35.51 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
8 targeting FXYD5, 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-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-2467-3P | 98.65 | 67.18 | 1969 |
| HSA-MIR-3614-3P | 97.81 | 67.15 | 582 |
Literature-anchored findings (GeneRIF, showing 34)
- We report the cloning and characterization of a cancer-associated cell membrane glycoprotein recognized by mAb NCC-3G10. (PMID:11756660)
- dysadherin expression was significantly associated with the prognosis, occurrence of secondary undifferentiated carcinomas, size of the primary tumor, and metastasis to the regional lymph nodes and lungs (PMID:12970317)
- dysadherin has a role in hematogenous metastasis of gastric cancer (PMID:15102690)
- Dysadherin and E-cadherin expression may help to predict the prognosis of patients with ESCC (esophageal squamous cell carcinoma). (PMID:15459499)
- Dysadherin is able to modulate actin structures, stimulate cell motility, and contribute directly to the metastatic potential of human pancreatic cancer cells. (PMID:15466191)
- dysadherin may be a valuable prognostic marker in cervical carcinoma. (PMID:15619642)
- Over expression of dysadherin is associated with cutaneous malignant melanoma (PMID:15751018)
- In testicular tumours, as in other neoplasms, dysadherin downregulates E-cadherin expression, at least in part (PMID:16333245)
- Found in trophoblasts in both normal and abnormal pregnancies. (PMID:17084448)
- Dysadherin may play an important role in breast cancer progression by promoting invasion. (PMID:17437014)
- Recent work that has provided insights into possible mechanisms of action of dysadherin in the cancer progression process was reviewed. (PMID:17442482)
- FXYD5 is upregulated in cystic fibrosis epithelia which may exacerbate the Na(+) hyperabsorption and surface liquid dehydration observed in cystic fibrosis. (PMID:18263667)
- Increased dysadherin expression is possibly one of the post-transcriptional mechanisms responsible for E-cadherin downregulation in thyroid papillary neoplasia (PMID:18677652)
- The dysadherin expression level was significantly correlated with gastrointestinal stromal tumor risk stratification. (PMID:19217217)
- In lung carcinomas dysadherin expression seems to reflect tumour aggressiveness and may be considered a positive marker of poor prognosis when considered alone or/and in combination with down-regulation of E-cadherin. (PMID:20712010)
- The detection of dysadherin in tumors and cytokeratin in the lymph nodes may be a potential significant indicator of a poor prognosis for patients who undergo complete resection of stage I non-small cell lung cancer (PMID:20944097)
- transfection of dysadherin cDNA into the liver cancer cell line PLC/PRF/5 enhanced the properties of cencer stem cells, including anti-apoptosis, their sphere-forming ability, side population phenotype, and tumor initiation ability in vivo (PMID:20952084)
- Combined dysadherin-positive expression and E-cadherin-negative expression may be valuable information for predicting aggressive tumor behavior of differentiated-type gastric carcinoma with submucosal invasion (PMID:21239043)
- Data show that osteoblasts are the major cell type of the bone marrow that affect RCC cells by secreting factors that increase the expression of dysadherin and CCL2 in the tumor cells leading to enhanced cell migration. (PMID:21328336)
- This is the first report on expression of dysadherin in the male gonad and in spermatozoa. (PMID:21774927)
- Overexpression of Snail, Slug, and dysadherin and activation of Wnt and PI3K/Akt signaling was associated with inactivated E-cadherin in the spindle cells of monophasic fibrous synovial sarcomas. (PMID:21809991)
- we are focusing on the role of dysadherin in E-cadherin downregulation, the various expression patterns of the molecule in head and neck cancer (PMID:22105147)
- Findings suggest that dysadherin might contribute to breast cancer progression through AKT activation. (PMID:22494103)
- These results suggest a role of let-7a down-regulation in the development of thyroid neoplasias of the follicular histotype, likely regulating dysadherin protein expression levels. (PMID:22965940)
- Study demonstrated that the expression of FXYD1, FXYD3 and FXYD5 is elevated in the lungs of Acute respiratory distress syndrome patients (PMID:26410457)
- Dysadherin-silenced side population cells exhibited reduced expression of Bcl-2 and Bax compared with that prior to silencing. (PMID:26458963)
- Knockdown of FXYD5 in MDA-MB-231 breast cancer cells largely decreases expression and secretion of the chemokine CCL2 (MCP-1). A related effect has also been observed in renal cell carcinoma cells. (PMID:27006401)
- the ratio between FXYD5 and alpha1-beta1 heterodimer determines whether the Na,K-ATPase acts as a positive or negative regulator of intercellular adhesion. (PMID:27142834)
- our study demonstrated that FXYD5 is an HGSOC-associated molecule, especially overexpressed in cases characterised by shorter survival, chemotherapy resistance and disease recurrence/progression, so it might be useful for identification of patients at higher risk of worse prognosis at the time of diagnosis. (PMID:31434988)
- A FXYD5/TGFbeta/SMAD positive feedback loop drives epithelialtomesenchymal transition and promotes tumor growth and metastasis in ovarian cancer. (PMID:31746425)
- Dysadherin awakens mechanical forces and promotes colorectal cancer progression. (PMID:35673579)
- FXYD5 promotes sorafenib resistance through the Akt/mTOR signaling pathway in hepatocellular carcinoma. (PMID:35977595)
- High-Intensity Training Represses FXYD5 and Glycosylates Na,K-ATPase in Type II Muscle Fibres, Which Are Linked with Improved Muscle K[+] Handling and Performance. (PMID:36982661)
- The dysadherin/FAK axis promotes individual cell migration in colon cancer. (PMID:38725858)
Cross-species orthologs
0 orthologs
Paralogs (6): FXYD3 (ENSG00000089356), FXYD6 (ENSG00000137726), FXYD2 (ENSG00000137731), FXYD4 (ENSG00000150201), FXYD7 (ENSG00000221946), FXYD1 (ENSG00000266964)
Protein
Protein identifiers
FXYD domain-containing ion transport regulator 5 — Q96DB9 (reviewed: Q96DB9)
Alternative names: Dysadherin
All UniProt accessions (5): Q96DB9, A8MVG1, F5H4X8, K7EJH6, K7ER99
UniProt curated annotations — full annotation on UniProt →
Function. Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. May increase NKA activity by increasing the apparent affinity for Na(+). Involved in down-regulation of E-cadherin which results in reduced cell adhesion. Promotes metastasis.
Subunit / interactions. Regulatory subunit of the sodium/potassium-transporting ATPase which is composed of a catalytic alpha subunit, a non-catalytic beta subunit and an additional regulatory subunit. The regulatory subunit, a member of the FXYD protein family, modulates the enzymatic activity in a tissue- and isoform-specific way by changing affinities of the Na+/K+-ATPase toward Na(+), K(+) or ATP.
Subcellular location. Cell membrane. Basolateral cell membrane.
Post-translational modifications. Glycosylated.
Similarity. Belongs to the FXYD family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96DB9-1 | 1 | yes |
| Q96DB9-2 | 2 |
RefSeq proteins (5): NP_001158077, NP_001307841, NP_001307842, NP_054883, NP_659003 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000272 | Ion-transport_regulator_FXYD | Family |
| IPR047297 | FXYD_motif | Conserved_site |
Pfam: PF02038
UniProt features (13 total): compositionally biased region 3, sequence variant 2, topological domain 2, signal peptide 1, chain 1, sequence conflict 1, transmembrane region 1, region of interest 1, splice variant 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9KCI | ELECTRON MICROSCOPY | 2.9 |
| 9KCG | ELECTRON MICROSCOPY | 3.1 |
| 9KCJ | ELECTRON MICROSCOPY | 3.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96DB9-F1 | 58.67 | 0.08 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 303 (showing top):
GOBP_POTASSIUM_ION_TRANSPORT, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_TRANSMEMBRANE_ELECTROCHEMICAL_GRADIENT, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, GOBP_POTASSIUM_ION_HOMEOSTASIS, GOBP_POSITIVE_REGULATION_OF_SODIUM_ION_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_REGULATION_OF_SODIUM_ION_TRANSPORT, GOBP_CALCIUM_DEPENDENT_CELL_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, ONKEN_UVEAL_MELANOMA_UP, GOBP_POSITIVE_REGULATION_OF_MONOATOMIC_ION_TRANSPORT, GOBP_INTRACELLULAR_POTASSIUM_ION_HOMEOSTASIS, MORI_SMALL_PRE_BII_LYMPHOCYTE_DN
GO Biological Process (7): potassium ion transport (GO:0006813), sodium ion transport (GO:0006814), microvillus assembly (GO:0030033), negative regulation of calcium-dependent cell-cell adhesion (GO:0046588), positive regulation of sodium ion export across plasma membrane (GO:1903278), monoatomic ion transport (GO:0006811), regulation of monoatomic ion transport (GO:0043269)
GO Molecular Function (5): actin binding (GO:0003779), sodium channel regulator activity (GO:0017080), cadherin binding (GO:0045296), protein binding (GO:0005515), ion channel regulator activity (GO:0099106)
GO Cellular Component (3): plasma membrane (GO:0005886), membrane (GO:0016020), basolateral plasma membrane (GO:0016323)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| metal ion transport | 2 |
| microvillus organization | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| calcium-dependent cell-cell adhesion | 1 |
| negative regulation of cell-cell adhesion | 1 |
| regulation of calcium-dependent cell-cell adhesion | 1 |
| sodium ion export across plasma membrane | 1 |
| positive regulation of sodium ion transmembrane transport | 1 |
| regulation of sodium ion export across plasma membrane | 1 |
| transport | 1 |
| monoatomic ion transport | 1 |
| regulation of transport | 1 |
| cytoskeletal protein binding | 1 |
| sodium channel activity | 1 |
| ion channel regulator activity | 1 |
| cell adhesion molecule binding | 1 |
| binding | 1 |
| monoatomic ion channel activity | 1 |
| channel regulator activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| basal plasma membrane | 1 |
| plasma membrane region | 1 |
Protein interactions and networks
STRING
534 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FXYD5 | FXYD3 | Q14802 | 738 |
| FXYD5 | FXYD6 | Q9H0Q3 | 729 |
| FXYD5 | COX7A1 | P24310 | 722 |
| FXYD5 | FXYD4 | P59646 | 720 |
| FXYD5 | A0A087WZ82 | A0A087WZ82 | 707 |
| FXYD5 | FXYD1 | O00168 | 689 |
| FXYD5 | FXYD7 | P58549 | 681 |
| FXYD5 | FXYD2 | P54710 | 674 |
| FXYD5 | CDH1 | P12830 | 626 |
| FXYD5 | CTCFL | Q8NI51 | 550 |
| FXYD5 | MGAT3 | Q09327 | 514 |
| FXYD5 | C5orf15 | Q8NC54 | 503 |
| FXYD5 | CSDC2 | Q9Y534 | 497 |
| FXYD5 | MRPL23 | Q16540 | 497 |
| FXYD5 | CHD8 | Q9HCK8 | 470 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FXYD5 | sepZ | psi-mi:“MI:0915”(physical association) | 0.370 |
| SLC44A1 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (3): FXYD5 (Two-hybrid), FXYD5 (Affinity Capture-MS), FXYD5 (Affinity Capture-RNA)
ESM2 similar proteins: A0A2R8Y7Y5, A1KXC4, A6QLF8, J3KML8, O00592, O35188, O55145, O57604, P06484, P07141, P13838, P14220, P15702, P16150, P18827, P20934, P26260, P34740, P47951, P59647, P78423, P97808, Q08DZ5, Q1ECS6, Q28270, Q28645, Q29RT9, Q3MIW9, Q3TNW5, Q52S86, Q58Y74, Q5RAF8, Q62170, Q64314, Q6MG22, Q6P9X9, Q6UWI2, Q6UXF1, Q86YL7, Q8BHE4
Diamond homologs: G1TZA0, I3LMB3, O00168, O08589, O13001, O97797, P54710, P56513, P58549, P58550, P59645, P59646, P59647, P59648, P59649, Q04645, Q04646, Q04679, Q04680, Q14802, Q3MHZ5, Q3SZX0, Q3ZBJ3, Q4R566, Q5RB29, Q61835, Q63113, Q91XV6, Q96DB9, Q9D164, Q9D2W0, Q9H0Q3, Q9Z239, W5P3P0, P97808, C0HJJ0
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 | 31 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1131 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:35154810:G:GG | donor_gain | 1.0000 |
| 19:35157415:CCCCA:C | acceptor_loss | 1.0000 |
| 19:35157416:CCCA:C | acceptor_loss | 1.0000 |
| 19:35157417:CCAGG:C | acceptor_loss | 1.0000 |
| 19:35157418:CA:C | acceptor_loss | 1.0000 |
| 19:35157419:A:AC | acceptor_loss | 1.0000 |
| 19:35157419:A:AG | acceptor_gain | 1.0000 |
| 19:35157419:AG:A | acceptor_gain | 1.0000 |
| 19:35157420:G:GA | acceptor_gain | 1.0000 |
| 19:35157420:GG:G | acceptor_gain | 1.0000 |
| 19:35157420:GGAC:G | acceptor_gain | 1.0000 |
| 19:35157420:GGACA:G | acceptor_gain | 1.0000 |
| 19:35158318:C:CA | acceptor_gain | 1.0000 |
| 19:35158320:T:TA | acceptor_gain | 1.0000 |
| 19:35164114:AT:A | acceptor_gain | 1.0000 |
| 19:35164115:T:G | acceptor_gain | 1.0000 |
| 19:35164115:T:TA | acceptor_gain | 1.0000 |
| 19:35164116:G:A | acceptor_gain | 1.0000 |
| 19:35166249:A:AG | acceptor_gain | 1.0000 |
| 19:35166250:G:GG | acceptor_gain | 1.0000 |
| 19:35166326:G:GG | donor_gain | 1.0000 |
| 19:35169564:A:AC | acceptor_loss | 1.0000 |
| 19:35169564:AGGT:A | acceptor_gain | 1.0000 |
| 19:35169565:GGTG:G | acceptor_gain | 1.0000 |
| 19:35154807:GAC:G | donor_gain | 0.9900 |
| 19:35155550:GAT:G | acceptor_gain | 0.9900 |
| 19:35155609:GAG:G | donor_gain | 0.9900 |
| 19:35155611:GGTAA:G | donor_loss | 0.9900 |
| 19:35155612:G:T | donor_loss | 0.9900 |
| 19:35155613:T:A | donor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000045944 (19:35156782 G>A), RS1000117363 (19:35158119 C>A,T), RS1000441101 (19:35169089 T>C,G), RS1000628249 (19:35167389 CACTT>C), RS1000812025 (19:35168811 C>T), RS1001133382 (19:35161329 C>G), RS1001407966 (19:35155438 G>A,T), RS1001437115 (19:35167656 T>C), RS1001490577 (19:35161322 G>A), RS1001648814 (19:35155292 C>T), RS1001734726 (19:35155273 G>A), RS1001796412 (19:35159763 G>A,C), RS1001827423 (19:35159977 C>T), RS1002062648 (19:35154390 G>A), RS1002257750 (19:35160942 T>C)
Disease associations
OMIM: gene MIM:606669 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004599_149 | Mean platelet volume | 1.000000e-14 |
| GCST004603_272 | Platelet count | 3.000000e-10 |
| GCST004616_44 | Platelet distribution width | 2.000000e-21 |
| GCST90002395_409 | Mean platelet volume | 4.000000e-26 |
| GCST90002401_263 | Platelet distribution width | 1.000000e-46 |
| GCST90002402_559 | Platelet count | 1.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004309 | platelet count |
| EFO:0007984 | platelet component distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
57 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| sodium arsenite | increases abundance, increases expression | 3 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Cadmium | decreases expression, increases abundance, increases expression | 2 |
| Nickel | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| methyleugenol | increases expression | 1 |
| bisphenol A | affects cotreatment, decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | increases expression | 1 |
| Sevoflurane | increases expression | 1 |
| Rosiglitazone | increases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | increases expression | 1 |
| Troglitazone | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2XE | Abcam HEK293T FXYD5 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.