FXYD6
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Summary
FXYD6 (FXYD domain containing ion transport regulator 6, HGNC:4030) is a protein-coding gene on chromosome 11q23.3, encoding FXYD domain-containing ion transport regulator 6 (Q9H0Q3). 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 the FXYD family of transmembrane proteins. This particular protein encodes phosphohippolin, which likely affects the activity of Na,K-ATPase. Multiple alternatively spliced transcript variants encoding the same protein have been described. Related pseudogenes have been identified on chromosomes 10 and X. Read-through transcripts have been observed between this locus and the downstream sodium/potassium-transporting ATPase subunit gamma (FXYD2, GeneID 486) locus.
Source: NCBI Gene 53826 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 6 total
- MANE Select transcript:
NM_022003
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4030 |
| Approved symbol | FXYD6 |
| Name | FXYD domain containing ion transport regulator 6 |
| Location | 11q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000137726 |
| Ensembl biotype | protein_coding |
| OMIM | 606683 |
| Entrez | 53826 |
Gene structure
Transcript identifiers
Ensembl transcripts: 63 — 55 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000260282, ENST00000524656, ENST00000524841, ENST00000526014, ENST00000527053, ENST00000527429, ENST00000527717, ENST00000529335, ENST00000530956, ENST00000534125, ENST00000539526, ENST00000540359, ENST00000579486, ENST00000583233, ENST00000583660, ENST00000584230, ENST00000584394, ENST00000902933, ENST00000902934, ENST00000902935, ENST00000902936, ENST00000902937, ENST00000902938, ENST00000902939, ENST00000902940, ENST00000902941, ENST00000902942, ENST00000902943, ENST00000902944, ENST00000902945, ENST00000902946, ENST00000902947, ENST00000902948, ENST00000902949, ENST00000902950, ENST00000902951, ENST00000902952, ENST00000902953, ENST00000902954, ENST00000902955, ENST00000902956, ENST00000902957, ENST00000902958, ENST00000902959, ENST00000902960, ENST00000902961, ENST00000902962, ENST00000912676, ENST00000941139, ENST00000941140, ENST00000941141, ENST00000941142, ENST00000941143, ENST00000941144, ENST00000941145, ENST00000941146, ENST00000941147, ENST00000941148, ENST00000941149, ENST00000941150, ENST00000941151, ENST00000941152, ENST00000941153
RefSeq mRNA: 5 — MANE Select: NM_022003
NM_001164831, NM_001164832, NM_001164836, NM_001164837, NM_022003
CCDS: CCDS8387
Canonical transcript exons
ENST00000526014 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001130048 | 117836981 | 117838277 |
| ENSE00002155235 | 117876592 | 117876658 |
| ENSE00003488781 | 117840319 | 117840368 |
| ENSE00003549740 | 117841990 | 117842028 |
| ENSE00003627783 | 117839781 | 117839830 |
| ENSE00003642452 | 117841791 | 117841865 |
| ENSE00003786068 | 117841148 | 117841184 |
| ENSE00003787656 | 117842719 | 117842781 |
Expression profiles
Bgee: expression breadth ubiquitous, 283 present calls, max score 99.62.
FANTOM5 (CAGE): breadth broad, TPM avg 11.5342 / max 629.6528, expressed in 717 samples.
FANTOM5 promoters (14 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 122534 | 26.7508 | 727 |
| 122529 | 3.5332 | 223 |
| 122530 | 2.4702 | 213 |
| 122536 | 1.3174 | 373 |
| 122537 | 1.2602 | 319 |
| 122535 | 0.9594 | 372 |
| 122539 | 0.5457 | 183 |
| 122528 | 0.5014 | 82 |
| 122538 | 0.4428 | 150 |
| 122527 | 0.1981 | 66 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 99.62 | gold quality |
| prefrontal cortex | UBERON:0000451 | 99.46 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.45 | gold quality |
| ventricular zone | UBERON:0003053 | 99.41 | gold quality |
| right frontal lobe | UBERON:0002810 | 99.40 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.35 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.32 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.31 | gold quality |
| body of uterus | UBERON:0009853 | 99.27 | gold quality |
| cingulate cortex | UBERON:0003027 | 99.24 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 99.24 | gold quality |
| frontal cortex | UBERON:0001870 | 99.23 | gold quality |
| frontal lobe | UBERON:0016525 | 99.23 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 99.21 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 99.16 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 99.12 | gold quality |
| neocortex | UBERON:0001950 | 99.08 | gold quality |
| cerebellum | UBERON:0002037 | 99.07 | gold quality |
| left uterine tube | UBERON:0001303 | 99.06 | gold quality |
| right ovary | UBERON:0002118 | 99.05 | gold quality |
| left ovary | UBERON:0002119 | 99.01 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 98.95 | gold quality |
| amygdala | UBERON:0001876 | 98.85 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.77 | gold quality |
| cerebral cortex | UBERON:0000956 | 98.74 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 98.72 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 98.71 | gold quality |
| hypothalamus | UBERON:0001898 | 98.54 | gold quality |
| temporal lobe | UBERON:0001871 | 98.53 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 98.47 | gold quality |
Single-cell (SCXA)
Detected in 20 experiment(s), a significant marker in 19.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10485 | yes | 1497.65 |
| E-HCAD-5 | yes | 1476.28 |
| E-MTAB-9435 | yes | 1411.98 |
| E-ENAD-27 | yes | 399.26 |
| E-MTAB-10553 | yes | 46.83 |
| E-GEOD-134144 | yes | 39.44 |
| E-HCAD-35 | yes | 39.44 |
| E-HCAD-10 | yes | 36.75 |
| E-MTAB-5061 | yes | 28.38 |
| E-GEOD-81547 | yes | 25.95 |
| E-HCAD-31 | yes | 25.64 |
| E-GEOD-84465 | yes | 25.46 |
| E-HCAD-1 | yes | 20.03 |
| E-GEOD-81608 | yes | 15.92 |
| E-MTAB-6701 | yes | 15.10 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
55 targeting FXYD6, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-1255A | 99.74 | 68.09 | 744 |
| HSA-MIR-1255B-5P | 99.74 | 68.16 | 741 |
| HSA-MIR-12124 | 99.68 | 69.17 | 2700 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-4663 | 99.62 | 65.33 | 957 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-4652-3P | 99.33 | 70.02 | 2742 |
| HSA-MIR-6828-5P | 99.31 | 69.21 | 1433 |
| HSA-MIR-449B-3P | 99.20 | 67.24 | 1047 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-8077 | 99.17 | 66.67 | 862 |
| HSA-MIR-6510-5P | 99.14 | 66.59 | 1081 |
| HSA-MIR-6815-3P | 99.13 | 68.98 | 1530 |
| HSA-MIR-1253 | 99.12 | 67.08 | 1688 |
Literature-anchored findings (GeneRIF, showing 9)
- Base-pair changes in FXYD6 or in associated promoter/control regions are likely to cause abnormal function or expression of phosphohippolin and to increase genetic susceptibility to schizophrenia. (PMID:17357072)
- Our findings suggest that FXYD6 is unlikely to be related to the development of schizophrenia in a Japanese population. (PMID:18455306)
- Data show that FXYD6 does not play a role in schizophrenia in the Chinese Han population. (PMID:20149392)
- these results support that FXYD6 is a susceptibility gene of schizophrenia. (PMID:21216238)
- FXYD6 gene might play an important role in schizophrenia susceptibility. (PMID:21983730)
- FXYD6 plays a critical role of in hepatocellular carcinoma disease progression. (PMID:24715268)
- FXYD6 was verified to be directly interacting with miR-137.. (PMID:26302771)
- FXYD protein isoforms differentially modulate human Na/K pump function. (PMID:33231612)
- Identification of FXYD6 as the novel biomarker for glioma based on differential expression and DNA methylation. (PMID:38093622)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fxyd6 | ENSDARG00000100971 |
| mus_musculus | Fxyd6 | ENSMUSG00000066705 |
| rattus_norvegicus | Fxyd6 | ENSRNOG00000016412 |
Paralogs (6): FXYD5 (ENSG00000089327), FXYD3 (ENSG00000089356), FXYD2 (ENSG00000137731), FXYD4 (ENSG00000150201), FXYD7 (ENSG00000221946), FXYD1 (ENSG00000266964)
Protein
Protein identifiers
FXYD domain-containing ion transport regulator 6 — Q9H0Q3 (reviewed: Q9H0Q3)
Alternative names: Phosphohippolin
All UniProt accessions (4): E9PHZ3, E9PJ02, Q9H0Q3, J3QKN1
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. Reduces the apparent affinity for intracellular Na(+) with no change in the apparent affinity for extracellular K(+). In addition to modulating NKA kinetics, may also function as a regulator of NKA localization to the plasma membrane.
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.
Similarity. Belongs to the FXYD family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H0Q3-1 | 1 | yes |
| Q9H0Q3-2 | 2 |
RefSeq proteins (5): NP_001158303, NP_001158304, NP_001158308, NP_001158309, NP_071286* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000272 | Ion-transport_regulator_FXYD | Family |
| IPR047297 | FXYD_motif | Conserved_site |
Pfam: PF02038
UniProt features (9 total): topological domain 2, signal peptide 1, chain 1, transmembrane region 1, region of interest 1, splice variant 1, turn 1, helix 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8D3V | ELECTRON MICROSCOPY | 3.4 |
| 8D3W | ELECTRON MICROSCOPY | 3.5 |
| 8D3U | ELECTRON MICROSCOPY | 3.7 |
| 8D3Y | ELECTRON MICROSCOPY | 3.9 |
| 8D3X | ELECTRON MICROSCOPY | 4.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H0Q3-F1 | 70.35 | 0.13 |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-5578775 | Ion homeostasis |
| R-HSA-936837 | Ion transport by P-type ATPases |
| R-HSA-9679191 | Potential therapeutics for SARS |
MSigDB gene sets: 220 (showing top):
GOBP_POTASSIUM_ION_TRANSPORT, GNF2_RTN1, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_TRANSMEMBRANE_ELECTROCHEMICAL_GRADIENT, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_POTASSIUM_ION_HOMEOSTASIS, GOBP_POSITIVE_REGULATION_OF_SODIUM_ION_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, EFC_Q6, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_REGULATION_OF_SODIUM_ION_TRANSPORT, ONKEN_UVEAL_MELANOMA_UP, GOBP_POSITIVE_REGULATION_OF_MONOATOMIC_ION_TRANSPORT, TGCTGAY_UNKNOWN, DELYS_THYROID_CANCER_DN, GOBP_INTRACELLULAR_POTASSIUM_ION_HOMEOSTASIS
GO Biological Process (5): potassium ion transport (GO:0006813), sodium ion transport (GO:0006814), 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 (3): sodium channel regulator activity (GO:0017080), protein binding (GO:0005515), ion channel regulator activity (GO:0099106)
GO Cellular Component (5): plasma membrane (GO:0005886), presynaptic membrane (GO:0042734), postsynaptic membrane (GO:0045211), glutamatergic synapse (GO:0098978), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Cardiac conduction | 1 |
| Ion channel transport | 1 |
| SARS-CoV Infections | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| metal ion transport | 2 |
| synaptic membrane | 2 |
| 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 |
| sodium channel activity | 1 |
| ion channel regulator activity | 1 |
| binding | 1 |
| monoatomic ion channel activity | 1 |
| channel regulator activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| presynapse | 1 |
| postsynapse | 1 |
| synapse | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
658 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FXYD6 | FXYD5 | Q96DB9 | 729 |
| FXYD6 | DRD2 | P14416 | 588 |
| FXYD6 | TYR | P14679 | 549 |
| FXYD6 | EXOC1L | A0A1B0GW35 | 401 |
| FXYD6 | MPZL3 | Q6UWV2 | 355 |
| FXYD6 | ITPRIPL2 | Q3MIP1 | 353 |
| FXYD6 | GPR68 | Q15743 | 353 |
| FXYD6 | KCNS1 | Q96KK3 | 353 |
| FXYD6 | SULF2 | Q8IWU5 | 351 |
| FXYD6 | LXN | Q9BS40 | 350 |
| FXYD6 | LDB2 | O43679 | 350 |
| FXYD6 | COL13A1 | Q5TAT6 | 350 |
| FXYD6 | PANX1 | Q96RD7 | 349 |
| FXYD6 | CRIM1 | Q9NZV1 | 347 |
| FXYD6 | HOATZ | Q6PI97 | 325 |
IntAct
189 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FXYD6 | CREB3L1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CREB3L1 | FXYD6 | psi-mi:“MI:0915”(physical association) | 0.720 |
| SVOP | FXYD6 | psi-mi:“MI:0915”(physical association) | 0.600 |
| FXYD6 | LHFPL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FXYD6 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| FXYD6 | FFAR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FXYD6 | RNASEK | psi-mi:“MI:0915”(physical association) | 0.560 |
| FXYD6 | SLC35E3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MFF | FXYD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD74 | FXYD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC30A2 | FXYD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC47A1 | FXYD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM237 | FXYD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DERL2 | FXYD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| APCDD1L | FXYD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FXYD6 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| RHBDL1 | FXYD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLEC10A | FXYD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FXYD6 | CERS4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ELOVL4 | FXYD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TM4SF18 | FXYD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM35A | FXYD6 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (124): CREB3L1 (Two-hybrid), FXYD6 (Two-hybrid), FXYD6 (Affinity Capture-MS), FXYD6 (Affinity Capture-MS), FXYD6 (Two-hybrid), FXYD6 (Two-hybrid), HAUS2 (Two-hybrid), CCDC90B (Two-hybrid), TRIM27 (Two-hybrid), SLC35E1 (Two-hybrid), FXYD6 (Two-hybrid), FXYD6 (Two-hybrid), FXYD6-FXYD2 (Two-hybrid), FXYD6 (Two-hybrid), FXYD6 (Two-hybrid)
ESM2 similar proteins: A0A1B0GW64, A2AFR3, A4IFL2, A6QLZ5, A8MVS5, A8MWV9, E1BBQ2, E9Q2Z6, O54693, O73612, P01134, P0C8R9, P18519, P48030, P52795, P52796, P98172, Q0VAQ4, Q0VBP7, Q14CM0, Q15223, Q3MHZ5, Q4FZH1, Q4R566, Q5JRV8, Q5R8M2, Q5RB29, Q5T1S8, Q5T292, Q5VX71, Q6AYP5, Q7TPF1, Q8BHW5, Q8BR63, Q8CA71, Q8IVY1, Q8R5M8, Q91WM6, Q91XV6, Q96DD7
Diamond homologs: C0HJJ0, P58550, Q3MHZ5, Q3SZX0, Q4R566, Q5RB29, Q63113, Q91XV6, Q9D164, Q9D2W0, Q9H0Q3, W5P3P0, G1TZA0, I3LMB3, O00168, O08589, O13001, O97797, P54710, P56513, P58549, P59645, P59646, P59647, P59648, P59649, Q04645, Q04646, Q04679, Q04680, Q14802, Q3ZBJ3, Q61835, Q96DB9, Q9Z239, P97808
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
6 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 6 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1565 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:117839826:TGTTG:T | acceptor_gain | 1.0000 |
| 11:117839831:C:CC | acceptor_gain | 1.0000 |
| 11:117840252:T:TA | donor_gain | 1.0000 |
| 11:117840366:GCC:G | acceptor_gain | 1.0000 |
| 11:117840367:CC:C | acceptor_gain | 1.0000 |
| 11:117840367:CCC:C | acceptor_gain | 1.0000 |
| 11:117840368:CC:C | acceptor_gain | 1.0000 |
| 11:117841787:TTA:T | donor_loss | 1.0000 |
| 11:117841788:TACTT:T | donor_loss | 1.0000 |
| 11:117841789:A:AC | donor_gain | 1.0000 |
| 11:117841789:A:T | donor_loss | 1.0000 |
| 11:117841790:C:CG | donor_gain | 1.0000 |
| 11:117841790:CT:C | donor_gain | 1.0000 |
| 11:117841790:CTT:C | donor_gain | 1.0000 |
| 11:117841790:CTTA:C | donor_gain | 1.0000 |
| 11:117841793:A:AC | donor_gain | 1.0000 |
| 11:117841863:AATC:A | acceptor_loss | 1.0000 |
| 11:117841864:ATC:A | acceptor_loss | 1.0000 |
| 11:117841865:TC:T | acceptor_loss | 1.0000 |
| 11:117841865:TCTG:T | acceptor_loss | 1.0000 |
| 11:117841866:C:CC | acceptor_gain | 1.0000 |
| 11:117841866:C:CG | acceptor_loss | 1.0000 |
| 11:117841986:TCACC:T | donor_loss | 1.0000 |
| 11:117841987:CA:C | donor_loss | 1.0000 |
| 11:117841988:A:AT | donor_loss | 1.0000 |
| 11:117842026:CTG:C | acceptor_gain | 1.0000 |
| 11:117842027:TG:T | acceptor_gain | 1.0000 |
| 11:117842029:C:CC | acceptor_gain | 1.0000 |
| 11:117842713:ACTT:A | donor_loss | 1.0000 |
| 11:117842714:CTT:C | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000051671 (11:117847999 A>G), RS1000121950 (11:117855038 T>A), RS1000227894 (11:117838249 G>A,C), RS1000270864 (11:117876994 G>T), RS1000367387 (11:117866249 C>T), RS1000410324 (11:117855345 C>G,T), RS1000416177 (11:117860321 A>C,G), RS1000511273 (11:117870805 C>T), RS1000539118 (11:117837205 C>G,T), RS1000761057 (11:117870669 G>A), RS1000864361 (11:117859211 T>A,C,G), RS1000883777 (11:117865954 C>G,T), RS1000884798 (11:117841984 G>A,T), RS1000942489 (11:117848295 G>A), RS1001008289 (11:117836898 C>A,T)
Disease associations
OMIM: gene MIM:606683 | 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 |
|---|---|---|
| GCST003997_18 | Myopia | 1.000000e-11 |
| GCST006993_11 | Hippocampal volume in Alzheimer’s disease dementia | 1.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005035 | hippocampal volume |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 3 |
| Decitabine | affects expression, affects cotreatment | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| TL8-506 | increases expression, affects cotreatment | 1 |
| methylmercuric chloride | decreases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 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 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| gardiquimod | increases expression, decreases reaction | 1 |
| Vorinostat | affects expression, affects cotreatment | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Lipopolysaccharides | increases expression, affects response to substance, affects cotreatment | 1 |
| Poly I-C | affects cotreatment, increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Dronabinol | increases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Tunicamycin | decreases expression | 1 |
| Vitamin E | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Asbestos, Crocidolite | decreases methylation | 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.