MAP7D2
gene geneOn this page
Also known as FLJ14503
Summary
MAP7D2 (MAP7 domain containing 2, HGNC:25899) is a protein-coding gene on chromosome Xp22.12, encoding MAP7 domain-containing protein 2 (Q96T17). Microtubule-stabilizing protein that plays a role in the control of cell motility and neurite outgrowth via direct binding to the microtubule.
Predicted to enable kinesin binding activity and microtubule binding activity. Predicted to be involved in axon development and microtubule cytoskeleton organization. Predicted to be located in axon; microtubule cytoskeleton; and midbody. Predicted to be active in microtubule cytoskeleton.
Source: NCBI Gene 256714 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 189 total
- MANE Select transcript:
NM_001168465
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25899 |
| Approved symbol | MAP7D2 |
| Name | MAP7 domain containing 2 |
| Location | Xp22.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14503 |
| Ensembl gene | ENSG00000184368 |
| Ensembl biotype | protein_coding |
| OMIM | 301121 |
| Entrez | 256714 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 16 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000379643, ENST00000379651, ENST00000443379, ENST00000452324, ENST00000466145, ENST00000875378, ENST00000875379, ENST00000875380, ENST00000918363, ENST00000970001, ENST00000970005, ENST00000970007, ENST00000970009, ENST00000970012, ENST00000970014, ENST00000970016, ENST00000970017
RefSeq mRNA: 4 — MANE Select: NM_001168465
NM_001168465, NM_001168466, NM_001168467, NM_152780
CCDS: CCDS14195, CCDS55384, CCDS55385, CCDS55386
Canonical transcript exons
ENST00000379643 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001318278 | 20056680 | 20056791 |
| ENSE00001481939 | 20050824 | 20050946 |
| ENSE00001673481 | 20044364 | 20044524 |
| ENSE00001691197 | 20010777 | 20011052 |
| ENSE00001694127 | 20063414 | 20063577 |
| ENSE00001698009 | 20012349 | 20012535 |
| ENSE00001734976 | 20025681 | 20025952 |
| ENSE00001763917 | 20042502 | 20042629 |
| ENSE00001780169 | 20016094 | 20016325 |
| ENSE00001819468 | 20006713 | 20008398 |
| ENSE00002257073 | 20052878 | 20052988 |
| ENSE00002535546 | 20116750 | 20116907 |
| ENSE00003459943 | 20015223 | 20015327 |
| ENSE00003538965 | 20013569 | 20013625 |
| ENSE00003608023 | 20013054 | 20013132 |
| ENSE00003670120 | 20024951 | 20025083 |
| ENSE00003683678 | 20064728 | 20064805 |
Expression profiles
Bgee: expression breadth ubiquitous, 191 present calls, max score 97.46.
FANTOM5 (CAGE): breadth broad, TPM avg 4.1087 / max 325.6449, expressed in 356 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 198670 | 2.6194 | 304 |
| 198669 | 0.3661 | 112 |
| 198672 | 0.3197 | 100 |
| 198663 | 0.2198 | 48 |
| 198664 | 0.2189 | 51 |
| 198666 | 0.1263 | 32 |
| 198665 | 0.1019 | 32 |
| 198671 | 0.0702 | 41 |
| 198667 | 0.0447 | 11 |
| 198668 | 0.0217 | 8 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| Brodmann (1909) area 23 | UBERON:0013554 | 97.46 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 97.25 | gold quality |
| endothelial cell | CL:0000115 | 96.78 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 96.47 | gold quality |
| pons | UBERON:0000988 | 95.52 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 95.12 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 93.90 | gold quality |
| primary visual cortex | UBERON:0002436 | 93.55 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 93.02 | gold quality |
| corpus epididymis | UBERON:0004359 | 92.62 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.53 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.35 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 90.46 | gold quality |
| frontal cortex | UBERON:0001870 | 89.71 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 89.71 | gold quality |
| occipital lobe | UBERON:0002021 | 89.69 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 89.65 | gold quality |
| postcentral gyrus | UBERON:0002581 | 89.64 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 89.45 | gold quality |
| neocortex | UBERON:0001950 | 89.03 | gold quality |
| cerebellar cortex | UBERON:0002129 | 88.27 | gold quality |
| right frontal lobe | UBERON:0002810 | 88.27 | gold quality |
| cerebellar vermis | UBERON:0004720 | 88.22 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 88.20 | gold quality |
| parietal lobe | UBERON:0001872 | 88.19 | gold quality |
| cerebellum | UBERON:0002037 | 88.18 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 88.11 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 88.07 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 87.92 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 87.66 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 29.49 |
| E-ANND-3 | no | 4.33 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
66 targeting MAP7D2, 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-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-646 | 99.68 | 67.84 | 1645 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | map7d2b | ENSDARG00000045316 |
| danio_rerio | map7d2a | ENSDARG00000068480 |
| mus_musculus | Map7d2 | ENSMUSG00000041020 |
| rattus_norvegicus | Map7d2 | ENSRNOG00000005176 |
| drosophila_melanogaster | ens | FBGN0264693 |
Paralogs (3): MAP7D1 (ENSG00000116871), MAP7D3 (ENSG00000129680), MAP7 (ENSG00000135525)
Protein
Protein identifiers
MAP7 domain-containing protein 2 — Q96T17 (reviewed: Q96T17)
All UniProt accessions (6): A0A0K1JRJ6, A0A0K1JS24, A0A0M3R6J9, A0A0M4F6E1, A0A0M4FLI9, Q96T17
UniProt curated annotations — full annotation on UniProt →
Function. Microtubule-stabilizing protein that plays a role in the control of cell motility and neurite outgrowth via direct binding to the microtubule. Acts as a critical cofactor for kinesin transport. In the proximal axon, regulates kinesin-1 family members, KIF5A, KIF5B and KIF5C recruitment to microtubules and contributes to kinesin-1-mediated transport in the axons.
Subunit / interactions. Interacts (via N-terminus) with microtubules; facilitates microtubule stabilization. Interacts with kinesin-1 family members, KIF5A, KIF5B and KIF5C.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Midbody. Cell projection. Neuron projection. Axon.
Similarity. Belongs to the MAP7 family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96T17-1 | 1 | yes |
| Q96T17-2 | 2 | |
| Q96T17-3 | 3 | |
| Q96T17-4 | 4 | |
| Q96T17-5 | 5 |
RefSeq proteins (4): NP_001161937, NP_001161938, NP_001161939, NP_689993 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008604 | MAP7_fam | Family |
| IPR051483 | MAP7_domain-containing | Family |
Pfam: PF05672
UniProt features (28 total): compositionally biased region 7, splice variant 7, region of interest 5, sequence conflict 4, sequence variant 2, chain 1, modified residue 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96T17-F1 | 64.09 | 0.21 |
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 (1): 1
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 99 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_NEUROGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOCC_CENTROSOME, LIAO_METASTASIS, RICKMAN_HEAD_AND_NECK_CANCER_A, GOCC_NEURON_PROJECTION, ZHANG_BREAST_CANCER_PROGENITORS_UP, GOBP_CELL_PROJECTION_ORGANIZATION, VECCHI_GASTRIC_CANCER_EARLY_DN, ATGTCAC_MIR489, RIGGI_EWING_SARCOMA_PROGENITOR_UP, HOXA4_Q2, GOCC_MIDBODY, GOCC_AXON
GO Biological Process (2): microtubule cytoskeleton organization (GO:0000226), axon development (GO:0061564)
GO Molecular Function (2): microtubule binding (GO:0008017), kinesin binding (GO:0019894)
GO Cellular Component (9): centrosome (GO:0005813), microtubule (GO:0005874), microtubule cytoskeleton (GO:0015630), axon (GO:0030424), midbody (GO:0030496), neuron projection (GO:0043005), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoskeleton organization | 1 |
| microtubule-based process | 1 |
| neuron projection development | 1 |
| tubulin binding | 1 |
| cytoskeletal protein binding | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| cytoskeleton | 1 |
| neuron projection | 1 |
| plasma membrane bounded cell projection | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1480 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MAP7D2 | NUTM2G | Q5VZR2 | 590 |
| MAP7D2 | TRIM46 | Q7Z4K8 | 505 |
| MAP7D2 | RTL9 | Q8NET4 | 505 |
| MAP7D2 | NUGGC | Q68CJ6 | 452 |
| MAP7D2 | SCOC | Q9UIL1 | 433 |
| MAP7D2 | RALGPS1 | Q5JS13 | 427 |
| MAP7D2 | BCLAF3 | A2AJT9 | 417 |
| MAP7D2 | BMERB1 | Q96MC5 | 416 |
| MAP7D2 | GALK2 | Q01415 | 402 |
| MAP7D2 | MAPK1IP1L | Q8NDC0 | 399 |
| MAP7D2 | BTF3L4 | Q96K17 | 393 |
| MAP7D2 | FOXL2NB | Q6ZUU3 | 376 |
| MAP7D2 | POU2AF3 | A8K830 | 362 |
| MAP7D2 | NECAP2 | Q9NVZ3 | 355 |
| MAP7D2 | PABIR2 | Q7Z309 | 354 |
IntAct
150 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EFNB2 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.530 |
| KIAA0753 | OFD1 | psi-mi:“MI:2364”(proximity) | 0.480 |
| MAP7D2 | HTRA3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | PTPN3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | PDZD7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | PDZK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | MAST2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | TAX1BP3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | PDZD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | NHERF2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | DLG3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| APBA3 | MAP7D2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | MAGI3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | LRRC7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | PDZRN4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | PCLO | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | PATJ | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | DLG1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | LIMK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | SNTG1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | GIPC2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | ARHGEF11 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | LIN7A | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | ARHGAP21 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | FRMPD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | LNX2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAP7D2 | WHRN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (102): MAP7D2 (Affinity Capture-MS), MAP7D2 (Affinity Capture-MS), MAP7D2 (Affinity Capture-MS), MAP7D2 (Proximity Label-MS), MAP7D2 (Proximity Label-MS), MAP7D2 (Proximity Label-MS), MAP7D2 (Proximity Label-MS), MAP7D2 (Proximity Label-MS), MAP7D2 (Proximity Label-MS), KIF20A (Affinity Capture-MS), BEND3 (Affinity Capture-MS), NEURL4 (Affinity Capture-MS), HERC2 (Affinity Capture-MS), USP20 (Affinity Capture-MS), MAP7D2 (Affinity Capture-MS)
ESM2 similar proteins: A0A8I5ZM56, A2AG50, A2AI08, A2AJI0, A5D7K1, D4A4L4, E1C2Q8, F1LR10, O00515, O14529, O75128, O88573, O88735, P51825, P57016, Q14244, Q32LQ1, Q3KQU3, Q3U2K0, Q5JTD0, Q5NBX1, Q5PR69, Q5R7F9, Q5XHX2, Q5ZIA2, Q5ZJJ1, Q68DK7, Q6IPM2, Q6NV74, Q6NZF1, Q6PDH0, Q6PDM1, Q6PG95, Q6ZU35, Q86UU1, Q8CCJ4, Q8K124, Q8N7J2, Q8TD55, Q96PV7
Diamond homologs: A0A8I5ZM56, A2AG50, A2AJI0, D4A4L4, O88735, Q14244, Q3KQU3, Q5R7F9, Q5ZIA2, Q96T17
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 120 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 |
|---|---|---|---|
| Negative regulation of NMDA receptor-mediated neuronal transmission | 6 | 44.7× | 3e-07 |
| Ras activation upon Ca2+ influx through NMDA receptor | 5 | 39.1× | 1e-05 |
| Unblocking of NMDA receptors, glutamate binding and activation | 5 | 37.2× | 1e-05 |
| Long-term potentiation | 5 | 32.6× | 2e-05 |
| Assembly and cell surface presentation of NMDA receptors | 9 | 31.3× | 1e-09 |
| Neurexins and neuroligins | 10 | 27.0× | 9e-10 |
| Protein-protein interactions at synapses | 6 | 21.8× | 2e-05 |
| RHOC GTPase cycle | 5 | 10.0× | 4e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 11 | 57.1× | 2e-14 |
| protein localization to synapse | 6 | 41.0× | 1e-06 |
| receptor clustering | 7 | 39.0× | 2e-07 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 7 | 31.0× | 6e-07 |
| cell-cell adhesion | 10 | 9.1× | 2e-05 |
| protein-containing complex assembly | 8 | 8.1× | 5e-04 |
| nervous system development | 11 | 4.5× | 2e-03 |
| protein transport | 10 | 3.9× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
189 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 107 |
| Likely benign | 13 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3056 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:20010771:CTGTA:C | donor_loss | 1.0000 |
| X:20010772:TGTAC:T | donor_loss | 1.0000 |
| X:20010773:GTACC:G | donor_loss | 1.0000 |
| X:20010774:TACC:T | donor_loss | 1.0000 |
| X:20010775:A:T | donor_loss | 1.0000 |
| X:20010776:C:CA | donor_loss | 1.0000 |
| X:20011048:CAGGA:C | acceptor_gain | 1.0000 |
| X:20011049:AGGA:A | acceptor_gain | 1.0000 |
| X:20011050:GGA:G | acceptor_gain | 1.0000 |
| X:20011053:C:CC | acceptor_gain | 1.0000 |
| X:20012345:ATACC:A | donor_loss | 1.0000 |
| X:20012350:T:TA | donor_gain | 1.0000 |
| X:20012355:T:TA | donor_gain | 1.0000 |
| X:20012533:TTT:T | acceptor_gain | 1.0000 |
| X:20012536:C:CC | acceptor_gain | 1.0000 |
| X:20012541:C:CT | acceptor_gain | 1.0000 |
| X:20012542:G:T | acceptor_gain | 1.0000 |
| X:20013050:TCA:T | donor_loss | 1.0000 |
| X:20013051:CA:C | donor_loss | 1.0000 |
| X:20013052:A:AC | donor_gain | 1.0000 |
| X:20013052:A:C | donor_loss | 1.0000 |
| X:20013052:AC:A | donor_gain | 1.0000 |
| X:20013052:ACC:A | donor_gain | 1.0000 |
| X:20013053:C:CC | donor_gain | 1.0000 |
| X:20013053:C:G | donor_loss | 1.0000 |
| X:20013053:CC:C | donor_gain | 1.0000 |
| X:20013053:CCC:C | donor_gain | 1.0000 |
| X:20013053:CCCA:C | donor_gain | 1.0000 |
| X:20013053:CCCAT:C | donor_gain | 1.0000 |
| X:20013129:CTTT:C | acceptor_gain | 1.0000 |
AlphaMissense
5002 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:20013612:A:C | I547S | 0.999 |
| X:20013612:A:G | I547T | 0.999 |
| X:20063539:C:G | A83P | 0.999 |
| X:20064751:C:G | R62P | 0.999 |
| X:20013623:T:A | R543S | 0.998 |
| X:20013623:T:G | R543S | 0.998 |
| X:20015229:T:A | R540S | 0.998 |
| X:20015229:T:G | R540S | 0.998 |
| X:20064753:T:A | R61S | 0.998 |
| X:20064753:T:G | R61S | 0.998 |
| X:20013602:T:A | R550S | 0.997 |
| X:20013602:T:G | R550S | 0.997 |
| X:20013609:A:G | M548T | 0.997 |
| X:20063455:C:G | A111P | 0.997 |
| X:20063481:C:G | R102P | 0.997 |
| X:20063505:C:G | R94P | 0.997 |
| X:20063571:C:G | R72P | 0.997 |
| X:20064764:C:G | A58P | 0.997 |
| X:20013612:A:T | I547N | 0.996 |
| X:20064754:C:G | R61T | 0.996 |
| X:20064774:C:A | R54S | 0.996 |
| X:20064774:C:G | R54S | 0.996 |
| X:20011052:A:C | S650R | 0.995 |
| X:20011052:A:T | S650R | 0.995 |
| X:20012350:T:G | S650R | 0.995 |
| X:20013596:C:A | R552S | 0.995 |
| X:20013596:C:G | R552S | 0.995 |
| X:20013608:C:A | M548I | 0.995 |
| X:20013608:C:G | M548I | 0.995 |
| X:20013608:C:T | M548I | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000001636 (X:20096442 A>G), RS1000008761 (X:20034271 C>A,T), RS1000066829 (X:20056834 C>G,T), RS1000082521 (X:20086754 A>G), RS1000096944 (X:20049147 C>T), RS1000128049 (X:20048811 C>T), RS1000232778 (X:20114051 C>T), RS1000250938 (X:20114281 C>T), RS1000288707 (X:20038494 C>A,G), RS1000319174 (X:20026983 A>C), RS1000417356 (X:20104130 A>C), RS1000429979 (X:20024724 T>A), RS1000435930 (X:20112963 G>C), RS1000447628 (X:20103972 C>T), RS1000486079 (X:20104658 T>A,G)
Disease associations
OMIM: gene MIM:301121 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
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 cotreatment, increases expression, affects expression | 5 |
| Benzo(a)pyrene | affects methylation, increases expression | 3 |
| sodium arsenite | increases expression | 2 |
| belinostat | decreases expression, affects cotreatment | 2 |
| Formaldehyde | decreases expression, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| kojic acid | decreases expression | 1 |
| trichostatin A | decreases expression, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| hydroquinone | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | decreases expression, increases expression, affects cotreatment | 1 |
| licochalcone B | increases expression | 1 |
| bisphenol S | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Panobinostat | decreases expression, affects cotreatment | 1 |
| Acetaminophen | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Calcitriol | increases expression, affects cotreatment | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Demecolcine | increases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Testosterone | affects cotreatment, increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Vanadates | decreases expression | 1 |
| Cyclosporine | decreases 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.