MAP1S
gene geneOn this page
Also known as FLJ10669MAP8
Summary
MAP1S (microtubule associated protein 1S, HGNC:15715) is a protein-coding gene on chromosome 19p13.12, encoding Microtubule-associated protein 1S (Q66K74). Microtubule-associated protein that mediates aggregation of mitochondria resulting in cell death and genomic destruction (MAGD).
Enables DNA binding activity and cytoskeletal protein binding activity. Involved in metaphase chromosome alignment; microtubule cytoskeleton organization; and neuron projection morphogenesis. Located in several cellular components, including microtubule cytoskeleton; nuclear lumen; and perinuclear region of cytoplasm.
Source: NCBI Gene 55201 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 237 total
- MANE Select transcript:
NM_018174
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15715 |
| Approved symbol | MAP1S |
| Name | microtubule associated protein 1S |
| Location | 19p13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10669, MAP8 |
| Ensembl gene | ENSG00000130479 |
| Ensembl biotype | protein_coding |
| OMIM | 607573 |
| Entrez | 55201 |
Gene structure
Transcript identifiers
Ensembl transcripts: 32 — 17 protein_coding, 8 protein_coding_CDS_not_defined, 5 nonsense_mediated_decay, 2 retained_intron
ENST00000324096, ENST00000544059, ENST00000593593, ENST00000594212, ENST00000594340, ENST00000594365, ENST00000594625, ENST00000595338, ENST00000596637, ENST00000597000, ENST00000597067, ENST00000597681, ENST00000597735, ENST00000598756, ENST00000598769, ENST00000598916, ENST00000599494, ENST00000600186, ENST00000600608, ENST00000601097, ENST00000601544, ENST00000897430, ENST00000897431, ENST00000897432, ENST00000897433, ENST00000897434, ENST00000897435, ENST00000932495, ENST00000932496, ENST00000932497, ENST00000949628, ENST00000949629
RefSeq mRNA: 2 — MANE Select: NM_018174
NM_001308363, NM_018174
CCDS: CCDS32954, CCDS77262
Canonical transcript exons
ENST00000324096 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001226844 | 17725829 | 17728172 |
| ENSE00003005624 | 17719480 | 17719620 |
| ENSE00003467552 | 17720936 | 17721037 |
| ENSE00003493424 | 17734273 | 17734513 |
| ENSE00003534738 | 17733193 | 17733428 |
| ENSE00003643531 | 17724126 | 17724208 |
| ENSE00003681346 | 17725049 | 17725189 |
Expression profiles
Bgee: expression breadth ubiquitous, 266 present calls, max score 95.03.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.3987 / max 193.3725, expressed in 1807 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 174535 | 26.0387 | 1806 |
| 174536 | 0.2433 | 109 |
| 174537 | 0.1167 | 40 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 95.03 | gold quality |
| left testis | UBERON:0004533 | 94.96 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.41 | gold quality |
| right frontal lobe | UBERON:0002810 | 94.40 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 92.87 | gold quality |
| testis | UBERON:0000473 | 92.51 | gold quality |
| frontal cortex | UBERON:0001870 | 92.50 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.37 | gold quality |
| cingulate cortex | UBERON:0003027 | 92.32 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.22 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.21 | gold quality |
| neocortex | UBERON:0001950 | 92.09 | gold quality |
| cortical plate | UBERON:0005343 | 91.94 | gold quality |
| putamen | UBERON:0001874 | 91.45 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.10 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 91.10 | gold quality |
| amygdala | UBERON:0001876 | 91.08 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.00 | gold quality |
| caudate nucleus | UBERON:0001873 | 90.87 | gold quality |
| nucleus accumbens | UBERON:0001882 | 90.32 | gold quality |
| cerebral cortex | UBERON:0000956 | 90.20 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.05 | gold quality |
| apex of heart | UBERON:0002098 | 89.96 | gold quality |
| telencephalon | UBERON:0001893 | 89.95 | gold quality |
| ventricular zone | UBERON:0003053 | 89.94 | gold quality |
| gall bladder | UBERON:0002110 | 89.54 | gold quality |
| forebrain | UBERON:0001890 | 89.43 | gold quality |
| adenohypophysis | UBERON:0002196 | 89.34 | gold quality |
| cerebellar cortex | UBERON:0002129 | 89.26 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 89.15 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.84 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): SPI1
Literature-anchored findings (GeneRIF, showing 14)
- The amino acid sequence of VCY2IP-1 shows 59.3% and 41.9% homology to two human microtubule-associated proteins (MAPs), MAP1B and MAP1A, respectively. VCY2IP-1 has an extensive homology to the N-terminus and C-terminus regions of MAP1B and MAP1A (PMID:14627543)
- is expressed in a wide range of tissues in addition to neurons and represents the non-neuronal counterpart of a cytolinker family (PMID:15528209)
- Deletion mutagenesis indicated that C19ORF5 selectively binds double stranded DNA through its microtubule binding domain. (PMID:15907802)
- These results suggest that the interaction of SOCS3 with MAP1S and the integrity of the microtubule cytoskeleton play an important role in the negative regulation of SOCS3 on IL-6 signaling. (PMID:19027008)
- C19ORF5 distributed broadly across the mitotic spindle and reversibly accumulated during reversible mitotic arrest. (PMID:19759419)
- clarify roles of MAP1S in bridging microtubules and mitochondria with autophagic and mitophagic initiation, maturation, trafficking, and lysosomal clearance. (PMID:21262964)
- The PU.1-regulated MAP1S gene is implicated in neutrophil differentiation and autophagy control. (PMID:25043887)
- Ddata underline the key role of MAP1S as a global regulator of microbutule stability and demonstrate a new primary function of MAP1S to regulate MT dynamics at the onset of cytokinesis. (PMID:25300793)
- results support a role for MAP1 proteins in promoting efficient retrograde trafficking of HIV-1 by stimulating the formation of stable microtubules and mediating the association of HIV-1 cores with microtubules. (PMID:25505242)
- HDAC4 destabilizes MAP1S, suppresses autophagy flux and promotes the accumulation of mHTT aggregates. (PMID:26540094)
- Autophagy defects in the degradation of lipid droplets triggered by the MAP1S deficiency may enhance the initiation and development of ccRCC and reduce the survival of ccRCC patients. (PMID:26701856)
- Results suggested that microtubule associated protein 1S (MAP1S) were up-regulated among Crohn’s disease (CD) patients and MAP1S-related autophagy inhibits apoptosis of intestinal epithelial cells (IECs) through Wnt/beta-catenin signaling pathway which might play a vital role in the protection of intestinal mucosal barrier and inhibition the progression of CD. (PMID:28188784)
- RASSF1A Enhances Chemosensitivity of NSCLC Cells Through Activating Autophagy by Regulating MAP1S to Inactivate Keap1-Nrf2 Pathway. (PMID:33442234)
- Spermidine suppresses the activation of hepatic stellate cells to cure liver fibrosis through autophagy activator MAP1S. (PMID:36892418)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | map1sb | ENSDARG00000060326 |
| danio_rerio | map1sa | ENSDARG00000060805 |
| mus_musculus | Map1s | ENSMUSG00000019261 |
| rattus_norvegicus | Map1s | ENSRNOG00000018781 |
Paralogs (2): MAP1B (ENSG00000131711), MAP1A (ENSG00000166963)
Protein
Protein identifiers
Microtubule-associated protein 1S — Q66K74 (reviewed: Q66K74)
Alternative names: BPY2-interacting protein 1, Microtubule-associated protein 8, Variable charge Y chromosome 2-interacting protein 1
All UniProt accessions (10): Q66K74, M0QX37, M0QXE8, M0QXK6, M0QXQ9, M0QY41, M0QYI5, M0QZ50, M0R1J2, M0R1M7
UniProt curated annotations — full annotation on UniProt →
Function. Microtubule-associated protein that mediates aggregation of mitochondria resulting in cell death and genomic destruction (MAGD). Plays a role in anchoring the microtubule organizing center to the centrosomes. Binds to DNA. Plays a role in apoptosis. Involved in the formation of microtubule bundles.
Subunit / interactions. Heterodimer of a heavy and a light chain. Interacts with microtubules and actin. Both MAP1S heavy and light chains interact with microtubules. MAP1S light chain interacts with actin. Interacts (via C-terminus) with GAN (via Kelch domains). Interacts with ESR1, LRPPRC, RASSF1 isoform A and isoform C, microtubules and VCY2. Interacts with WDR47 (via N-terminus of light chain).
Subcellular location. Nucleus. Cytoplasm. Cytosol. Cytoskeleton. Spindle.
Tissue specificity. Expressed in neurons (at protein level). Expressed in spermatocytes, spermatids and spermatozoa. Expressed in the cerebral cortex. Highly expressed in testis. Moderately expressed in the brain, colon, heart, kidney, liver, lung, placenta, small intestine, spleen and stomach. Weakly expressed in muscle.
Domain organisation. The N-terminus of the heavy chain associates with the C-terminus of the light chain to form the heterodimer complex. Its C-terminal part of the heavy chain interacts with ESR1.
Miscellaneous. Depletion of MAP1S by RNAi causes mitotic abnormalities that consist of failure to form a stable metaphase plate, premature sister chromatid separation, lagging chromosomes, and multipolar spindles.
Similarity. Belongs to the MAP1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q66K74-1 | 1 | yes |
| Q66K74-2 | 2 |
RefSeq proteins (2): NP_001295292, NP_060644* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026074 | MAP1 | Family |
| IPR056617 | MAP1B/S_N | Domain |
| IPR057480 | MAP1A/B/S-like_MBL | Domain |
Pfam: PF23415, PF25281
UniProt features (42 total): compositionally biased region 11, modified residue 10, region of interest 7, sequence conflict 7, chain 3, sequence variant 3, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q66K74-F1 | 66.46 | 0.33 |
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 (10): 321, 472, 582, 638, 640, 655, 657, 731, 759, 809
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 161 (showing top):
GOBP_DENDRITE_DEVELOPMENT, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_MICROTUBULE_ANCHORING, GOMF_NUCLEASE_ACTIVITY, GOBP_CHROMOSOME_LOCALIZATION, GOBP_NEUROGENESIS, GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_MICROTUBULE_DEPOLYMERIZATION, GOCC_CENTROSOME, GOBP_MITOTIC_CELL_CYCLE, GOBP_MICROTUBULE_BUNDLE_FORMATION, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_TRANS, GOBP_HEAD_DEVELOPMENT, GOBP_PROTEIN_DEPOLYMERIZATION
GO Biological Process (14): microtubule cytoskeleton organization (GO:0000226), microtubule bundle formation (GO:0001578), autophagy (GO:0006914), apoptotic process (GO:0006915), mitotic spindle organization (GO:0007052), nervous system development (GO:0007399), axonogenesis (GO:0007409), brain development (GO:0007420), dendrite development (GO:0016358), regulation of microtubule depolymerization (GO:0031114), microtubule anchoring at centrosome (GO:0034454), mitochondrion transport along microtubule (GO:0047497), neuron projection morphogenesis (GO:0048812), metaphase chromosome alignment (GO:0051310)
GO Molecular Function (9): DNA binding (GO:0003677), actin binding (GO:0003779), microtubule binding (GO:0008017), tubulin binding (GO:0015631), identical protein binding (GO:0042802), beta-tubulin binding (GO:0048487), actin filament binding (GO:0051015), WD40-repeat domain binding (GO:0071987), protein binding (GO:0005515)
GO Cellular Component (19): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), centrosome (GO:0005813), microtubule organizing center (GO:0005815), spindle (GO:0005819), cytosol (GO:0005829), microtubule (GO:0005874), microtubule associated complex (GO:0005875), dendrite (GO:0030425), cell projection (GO:0042995), neuronal cell body (GO:0043025), synapse (GO:0045202), perinuclear region of cytoplasm (GO:0048471), sperm principal piece (GO:0097228), mitotic spindle microtubule (GO:1990498), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), microtubule cytoskeleton (GO:0015630)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 7 |
| microtubule cytoskeleton | 4 |
| intracellular membraneless organelle | 3 |
| neuron projection development | 2 |
| cytoskeletal protein binding | 2 |
| tubulin binding | 2 |
| nuclear lumen | 2 |
| cytoplasm | 2 |
| cytoskeleton organization | 1 |
| microtubule-based process | 1 |
| microtubule cytoskeleton organization | 1 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| mitotic cell cycle | 1 |
| spindle organization | 1 |
| microtubule cytoskeleton organization involved in mitosis | 1 |
| system development | 1 |
| cell morphogenesis involved in neuron differentiation | 1 |
| neuron projection morphogenesis | 1 |
| axon development | 1 |
| central nervous system development | 1 |
| animal organ development | 1 |
| head development | 1 |
| anatomical structure development | 1 |
| microtubule depolymerization | 1 |
| regulation of microtubule polymerization or depolymerization | 1 |
| regulation of protein depolymerization | 1 |
| regulation of supramolecular fiber organization | 1 |
| microtubule anchoring at microtubule organizing center | 1 |
| establishment of mitochondrion localization, microtubule-mediated | 1 |
| organelle transport along microtubule | 1 |
| plasma membrane bounded cell projection morphogenesis | 1 |
| chromosome localization | 1 |
| nuclear chromosome segregation | 1 |
| nucleic acid binding | 1 |
| protein binding | 1 |
Protein interactions and networks
STRING
1510 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MAP1S | SQSTM1 | Q13501 | 973 |
| MAP1S | LRPPRC | P42704 | 959 |
| MAP1S | RASSF1 | Q9NS23 | 954 |
| MAP1S | MAP1LC3B | Q9GZQ8 | 933 |
| MAP1S | ATG12 | O94817 | 923 |
| MAP1S | BECN1 | Q14457 | 911 |
| MAP1S | ATG5 | Q9H1Y0 | 887 |
| MAP1S | MAP1LC3A | Q9H492 | 886 |
| MAP1S | F5GZY7 | F5GZY7 | 863 |
| MAP1S | HEBP2 | Q9Y5Z4 | 858 |
| MAP1S | GABARAPL2 | P60520 | 855 |
| MAP1S | ATG7 | O95352 | 854 |
| MAP1S | CECR2 | Q9BXF3 | 834 |
| MAP1S | ATG16L1 | Q676U5 | 831 |
| MAP1S | MAP1LC3C | Q9BXW4 | 819 |
IntAct
117 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| VAPB | FAM83G | psi-mi:“MI:0914”(association) | 0.730 |
| STK4 | MAP1B | psi-mi:“MI:0914”(association) | 0.730 |
| STK3 | MAP1B | psi-mi:“MI:0914”(association) | 0.640 |
| STK4 | STRN | psi-mi:“MI:0914”(association) | 0.610 |
| STK4 | STRN | psi-mi:“MI:2364”(proximity) | 0.610 |
| BPY2C | MAP1S | psi-mi:“MI:0915”(physical association) | 0.580 |
| MAP1S | BPY2C | psi-mi:“MI:0915”(physical association) | 0.580 |
| MAP1S | BPY2C | psi-mi:“MI:0407”(direct interaction) | 0.580 |
| Rassf1 | VAPB | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAP1S | SOCS3 | psi-mi:“MI:0915”(physical association) | 0.540 |
| SOCS3 | MAP1S | psi-mi:“MI:0915”(physical association) | 0.540 |
| MAP1S | SOCS3 | psi-mi:“MI:0403”(colocalization) | 0.540 |
| FAM174A | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| LIPH | LRP5 | psi-mi:“MI:0914”(association) | 0.530 |
| GGA1 | CLCN3 | psi-mi:“MI:0914”(association) | 0.530 |
| KBTBD7 | PLD2 | psi-mi:“MI:0914”(association) | 0.530 |
| TRAPPC1 | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.530 |
| ATG3 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.530 |
| DBF4B | CDC7 | psi-mi:“MI:0914”(association) | 0.530 |
| LRRC27 | HMOX1 | psi-mi:“MI:0914”(association) | 0.530 |
| RASSF1 | MAP1B | psi-mi:“MI:0914”(association) | 0.530 |
| STRN | MAP4K4 | psi-mi:“MI:0914”(association) | 0.530 |
| RASSF5 | MAP1B | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (167): MAP1S (Affinity Capture-MS), RASSF5 (Two-hybrid), MAP1S (Affinity Capture-MS), MAP1S (Affinity Capture-MS), MAP1S (Affinity Capture-MS), MAP1S (Affinity Capture-MS), MAP1S (Affinity Capture-MS), MAP1S (Affinity Capture-MS), ANXA1 (Affinity Capture-MS), ANXA2 (Affinity Capture-MS), B2M (Affinity Capture-MS), GSN (Affinity Capture-MS), MAP1B (Affinity Capture-MS), STK4 (Affinity Capture-MS), STK3 (Affinity Capture-MS)
ESM2 similar proteins: A0JPN4, A1YF56, A2A288, A2A9T0, A2AEV7, A6QQJ8, A7MCY6, A8MVW0, D3ZG83, D3ZZN9, O09039, O15037, O75427, O94983, O95382, O95947, P0C5W1, P98077, Q02779, Q16584, Q2M3V2, Q53LP3, Q5D1E7, Q5D1E8, Q66HA1, Q66K74, Q66L42, Q6DG50, Q6ZUM4, Q6ZW31, Q76KP1, Q7T0L4, Q7TSG2, Q80XI6, Q80Y50, Q8BIY3, Q8BLS7, Q8K120, Q8K1S6, Q8R5G7
Diamond homologs: A6QQ70, P0C5W1, P14400, P14401, P14873, P15205, P34926, P46821, P78559, Q66K74, Q8C052, Q9QYR6, Q9W596
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CUL3 | “down-regulates quantity” | MAP1S | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 119 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitophagy | 5 | 15.3× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
237 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 201 |
| Likely benign | 16 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1503 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:17721038:G:GA | donor_loss | 1.0000 |
| 19:17724121:CACA:C | acceptor_loss | 1.0000 |
| 19:17724123:CA:C | acceptor_loss | 1.0000 |
| 19:17724124:A:AG | acceptor_gain | 1.0000 |
| 19:17724124:AG:A | acceptor_gain | 1.0000 |
| 19:17724124:AGGCC:A | acceptor_loss | 1.0000 |
| 19:17724125:G:A | acceptor_loss | 1.0000 |
| 19:17724125:G:GG | acceptor_gain | 1.0000 |
| 19:17724125:GG:G | acceptor_gain | 1.0000 |
| 19:17724125:GGC:G | acceptor_gain | 1.0000 |
| 19:17724125:GGCC:G | acceptor_gain | 1.0000 |
| 19:17724125:GGCCA:G | acceptor_gain | 1.0000 |
| 19:17724208:GGT:G | donor_loss | 1.0000 |
| 19:17724209:GTAG:G | donor_loss | 1.0000 |
| 19:17725185:GAGAG:G | donor_gain | 1.0000 |
| 19:17725187:GAG:G | donor_gain | 1.0000 |
| 19:17725190:GTAA:G | donor_loss | 1.0000 |
| 19:17725191:T:A | donor_loss | 1.0000 |
| 19:17725825:ACAG:A | acceptor_loss | 1.0000 |
| 19:17725827:A:AG | acceptor_gain | 1.0000 |
| 19:17725827:A:AT | acceptor_loss | 1.0000 |
| 19:17725828:G:A | acceptor_loss | 1.0000 |
| 19:17725828:G:GG | acceptor_gain | 1.0000 |
| 19:17733188:CGCA:C | acceptor_loss | 1.0000 |
| 19:17733189:GCA:G | acceptor_loss | 1.0000 |
| 19:17733190:CAG:C | acceptor_loss | 1.0000 |
| 19:17733191:A:AG | acceptor_gain | 1.0000 |
| 19:17733191:A:T | acceptor_loss | 1.0000 |
| 19:17733191:AG:A | acceptor_gain | 1.0000 |
| 19:17733192:G:GA | acceptor_gain | 1.0000 |
AlphaMissense
6703 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:17726210:T:A | W276R | 0.998 |
| 19:17726210:T:C | W276R | 0.998 |
| 19:17733404:G:C | K1000N | 0.996 |
| 19:17733404:G:T | K1000N | 0.996 |
| 19:17726304:G:C | R307P | 0.995 |
| 19:17727596:T:C | C738R | 0.995 |
| 19:17720947:T:A | W44R | 0.994 |
| 19:17720947:T:C | W44R | 0.994 |
| 19:17726243:G:C | A287P | 0.994 |
| 19:17724174:T:C | L90P | 0.993 |
| 19:17726121:T:C | F246S | 0.993 |
| 19:17727598:C:G | C738W | 0.993 |
| 19:17727617:T:C | F745L | 0.993 |
| 19:17727619:T:A | F745L | 0.993 |
| 19:17727619:T:G | F745L | 0.993 |
| 19:17720987:T:C | L57P | 0.992 |
| 19:17725086:T:C | L114P | 0.992 |
| 19:17726165:T:C | F261L | 0.992 |
| 19:17726167:C:A | F261L | 0.992 |
| 19:17726167:C:G | F261L | 0.992 |
| 19:17726212:G:C | W276C | 0.992 |
| 19:17726212:G:T | W276C | 0.992 |
| 19:17726303:C:A | R307S | 0.992 |
| 19:17734315:T:A | W1023R | 0.992 |
| 19:17734315:T:C | W1023R | 0.992 |
| 19:17720995:T:C | F60L | 0.991 |
| 19:17720997:T:A | F60L | 0.991 |
| 19:17720997:T:G | F60L | 0.991 |
| 19:17724171:T:A | V89D | 0.991 |
| 19:17726235:G:C | R284P | 0.991 |
dbSNP variants (sampled 300 via entrez): RS1000031049 (19:17732948 A>G), RS1000096095 (19:17733988 G>T), RS1000269953 (19:17718778 C>T), RS1000604272 (19:17717590 C>T), RS1000838586 (19:17727722 G>A), RS1000917375 (19:17726299 GC>G), RS1001504731 (19:17717915 T>C), RS1001549940 (19:17722818 A>G), RS1001551699 (19:17723742 C>G,T), RS1001644974 (19:17723578 C>A,T), RS1001846021 (19:17719696 T>G), RS1001883934 (19:17722713 C>T), RS1001977267 (19:17722371 T>C,G), RS1002228650 (19:17718063 G>A), RS1002270692 (19:17721765 A>G)
Disease associations
OMIM: gene MIM:607573 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005194_109 | Coronary artery disease | 6.000000e-13 |
| GCST005195_59 | Coronary artery disease | 1.000000e-13 |
| GCST008163_287 | Height | 1.000000e-06 |
| GCST010866_162 | Coronary artery disease | 4.000000e-15 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, affects binding, increases reaction, decreases expression | 5 |
| bisphenol A | decreases expression | 2 |
| Acetaminophen | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monomethylarsonous acid | increases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| bisphenol S | increases 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 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzene | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Benztropine | increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Clozapine | increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 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.