STARD9
gene geneOn this page
Also known as KIAA1300KIF16A
Summary
STARD9 (StAR related lipid transfer domain containing 9, HGNC:19162) is a protein-coding gene on chromosome 15q15.2, encoding StAR-related lipid transfer protein 9 (Q9P2P6). Microtubule-dependent motor protein required for spindle pole assembly during mitosis.
Enables microtubule binding activity and microtubule motor activity. Involved in spindle assembly. Located in centriole; cytoplasm; and nucleus.
Source: NCBI Gene 57519 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 979 total
- Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_020759
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19162 |
| Approved symbol | STARD9 |
| Name | StAR related lipid transfer domain containing 9 |
| Location | 15q15.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1300, KIF16A |
| Ensembl gene | ENSG00000159433 |
| Ensembl biotype | protein_coding |
| OMIM | 614642 |
| Entrez | 57519 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 4 retained_intron, 2 protein_coding, 1 nonsense_mediated_decay
ENST00000290607, ENST00000562139, ENST00000562619, ENST00000563872, ENST00000564158, ENST00000568493, ENST00000569419
RefSeq mRNA: 1 — MANE Select: NM_020759
NM_020759
CCDS: CCDS53935
Canonical transcript exons
ENST00000290607 — 33 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001045541 | 42719473 | 42720998 |
| ENSE00001045542 | 42717977 | 42718179 |
| ENSE00001107757 | 42684116 | 42694342 |
| ENSE00001107761 | 42694528 | 42694725 |
| ENSE00001538718 | 42663281 | 42663490 |
| ENSE00001652706 | 42674827 | 42674964 |
| ENSE00001715342 | 42663820 | 42663917 |
| ENSE00001755086 | 42675664 | 42675746 |
| ENSE00001768129 | 42669158 | 42669337 |
| ENSE00001795371 | 42682104 | 42682575 |
| ENSE00002290544 | 42674440 | 42674491 |
| ENSE00003462744 | 42716677 | 42716764 |
| ENSE00003466535 | 42575606 | 42575762 |
| ENSE00003468339 | 42638026 | 42638087 |
| ENSE00003477374 | 42651016 | 42651085 |
| ENSE00003483661 | 42681422 | 42681612 |
| ENSE00003527376 | 42716927 | 42717048 |
| ENSE00003534178 | 42634856 | 42634972 |
| ENSE00003539989 | 42662794 | 42662891 |
| ENSE00003540776 | 42585521 | 42585637 |
| ENSE00003557368 | 42675872 | 42675975 |
| ENSE00003563465 | 42661158 | 42661225 |
| ENSE00003577239 | 42638700 | 42638812 |
| ENSE00003578130 | 42717731 | 42717795 |
| ENSE00003604217 | 42665786 | 42665848 |
| ENSE00003626333 | 42718435 | 42718514 |
| ENSE00003631670 | 42652520 | 42652592 |
| ENSE00003647686 | 42718752 | 42718910 |
| ENSE00003655324 | 42665253 | 42665330 |
| ENSE00003657871 | 42583346 | 42583415 |
| ENSE00003660907 | 42695743 | 42695880 |
| ENSE00003686645 | 42637907 | 42637939 |
| ENSE00003689778 | 42695140 | 42695323 |
Expression profiles
Bgee: expression breadth ubiquitous, 218 present calls, max score 98.01.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.8722 / max 97.1269, expressed in 1185 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 146280 | 1.1343 | 453 |
| 146281 | 0.7815 | 291 |
| 146279 | 0.7411 | 415 |
| 146278 | 0.7054 | 387 |
| 146277 | 0.5099 | 284 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 98.01 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 97.22 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.18 | gold quality |
| tendon | UBERON:0000043 | 91.49 | gold quality |
| peripheral nervous system | UBERON:0000010 | 89.94 | gold quality |
| tibial nerve | UBERON:0001323 | 89.94 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.11 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 88.85 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 88.64 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 88.31 | gold quality |
| lower esophagus | UBERON:0013473 | 88.26 | gold quality |
| right testis | UBERON:0004534 | 87.78 | gold quality |
| left testis | UBERON:0004533 | 87.57 | gold quality |
| body of uterus | UBERON:0009853 | 86.50 | gold quality |
| apex of heart | UBERON:0002098 | 86.38 | gold quality |
| testis | UBERON:0000473 | 85.61 | gold quality |
| right ovary | UBERON:0002118 | 85.33 | gold quality |
| left ovary | UBERON:0002119 | 85.12 | gold quality |
| popliteal artery | UBERON:0002250 | 84.98 | gold quality |
| tibial artery | UBERON:0007610 | 84.98 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 84.91 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 84.80 | gold quality |
| corpus callosum | UBERON:0002336 | 84.70 | gold quality |
| aorta | UBERON:0000947 | 84.64 | gold quality |
| thoracic aorta | UBERON:0001515 | 84.27 | gold quality |
| ascending aorta | UBERON:0001496 | 84.24 | gold quality |
| right lung | UBERON:0002167 | 83.62 | gold quality |
| right coronary artery | UBERON:0001625 | 83.57 | gold quality |
| medial globus pallidus | UBERON:0002477 | 83.49 | gold quality |
| left coronary artery | UBERON:0001626 | 83.29 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.41 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
74 targeting STARD9, 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-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
Functional genomics
ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 4)
- Analysis of 592 mitotic microtubule copurifying proteins by functional RNAi screens for mitotic arrest, checkpoint bypass, and induction of apoptosis resulted in identification of a kinesin, STARD9, with a critical role in cancer cell division. (PMID:22153075)
- STARD9 could be regulated by Plk1 and SCFbeta-TrCP to promote proper mitotic spindle assembly. (PMID:25501367)
- STARD9 frame shift mutation is associated with abnormal spindle morphology in Intellectual disability. (PMID:28777490)
- STARD9 regulates the assembly and stability of both interphase and spindle microtubules. (PMID:30160609)
Cross-species orthologs
0 orthologs
Protein
Protein identifiers
StAR-related lipid transfer protein 9 — Q9P2P6 (reviewed: Q9P2P6)
Alternative names: START domain-containing protein 9
All UniProt accessions (3): Q9P2P6, H3BMX7, H3BN21
UniProt curated annotations — full annotation on UniProt →
Function. Microtubule-dependent motor protein required for spindle pole assembly during mitosis. Required to stabilize the pericentriolar material (PCM).
Subunit / interactions. Interacts with ATAD3A.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Nucleus.
Tissue specificity. Expressed in the central nervous system, muscle cells (heart and skeletal muscle), pancreas, prostate and lung.
Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9P2P6-1 | 1 | yes |
| Q9P2P6-2 | 2 | |
| Q9P2P6-3 | 3 |
RefSeq proteins (1): NP_065810* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000253 | FHA_dom | Domain |
| IPR001752 | Kinesin_motor_dom | Domain |
| IPR002913 | START_lipid-bd_dom | Domain |
| IPR008984 | SMAD_FHA_dom_sf | Homologous_superfamily |
| IPR019821 | Kinesin_motor_CS | Conserved_site |
| IPR023393 | START-like_dom_sf | Homologous_superfamily |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR036961 | Kinesin_motor_dom_sf | Homologous_superfamily |
Pfam: PF00225, PF00498, PF01852
UniProt features (83 total): region of interest 28, compositionally biased region 26, sequence variant 10, splice variant 5, sequence conflict 5, domain 3, mutagenesis site 2, chain 1, coiled-coil region 1, binding site 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
No AlphaFold model available for Q9P2P6 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 103–110
Post-translational modifications (1): 1203
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 110 | reduced atpase activity. |
| 223 | reduced ability to bind microtubules. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 119 (showing top):
MODULE_493, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_ORGANELLE_ASSEMBLY, GOBP_SPINDLE_ASSEMBLY, GOCC_CENTRIOLE, GOBP_CELL_CYCLE_PROCESS, GOMF_CYTOSKELETAL_PROTEIN_BINDING, GOBP_SPINDLE_ORGANIZATION, GOMF_MICROTUBULE_MOTOR_ACTIVITY, GOMF_LIPID_BINDING, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOMF_ADENYL_NUCLEOTIDE_BINDING, GOMF_ISOMERASE_ACTIVITY
GO Biological Process (2): microtubule-based movement (GO:0007018), spindle assembly (GO:0051225)
GO Molecular Function (6): microtubule motor activity (GO:0003777), ATP binding (GO:0005524), microtubule binding (GO:0008017), lipid binding (GO:0008289), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), centriole (GO:0005814), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| intracellular membraneless organelle | 2 |
| microtubule-based process | 1 |
| spindle organization | 1 |
| chromosome segregation | 1 |
| membraneless organelle assembly | 1 |
| cytoskeletal motor activity | 1 |
| polypeptide conformation or assembly isomerase activity | 1 |
| ATP-dependent activity | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| tubulin binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| microtubule organizing center | 1 |
Protein interactions and networks
STRING
1312 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STARD9 | STARD10 | Q9Y365 | 556 |
| STARD9 | STARD6 | P59095 | 544 |
| STARD9 | STARD8 | Q92502 | 543 |
| STARD9 | PCTP | Q9UKL6 | 508 |
| STARD9 | STARD5 | P59094 | 494 |
| STARD9 | ACOT11 | Q8WXI4 | 479 |
| STARD9 | DNHD1 | Q96M86 | 462 |
| STARD9 | STARD7 | Q9NQZ5 | 458 |
| STARD9 | SLCO1B7 | G3V0H7 | 447 |
| STARD9 | PRSS53 | Q2L4Q9 | 446 |
| STARD9 | LRRC57 | Q8N9N7 | 441 |
| STARD9 | PCNX3 | Q9H6A9 | 440 |
| STARD9 | STARD4 | Q96DR4 | 432 |
| STARD9 | ZFYVE19 | Q96K21 | 427 |
| STARD9 | ZNF782 | Q6ZMW2 | 419 |
IntAct
18 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MCL1 | PRKAB2 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAG | SHTN1 | psi-mi:“MI:0914”(association) | 0.560 |
| YWHAB | SHTN1 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAZ | SHTN1 | psi-mi:“MI:0914”(association) | 0.530 |
| STARD9 | HNRNPA2B1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| STARD9 | HNRNPA3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| STARD9 | HNRNPA1L2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| STARD9 | PPP1CC | psi-mi:“MI:0915”(physical association) | 0.370 |
| NEK4 | E2F8 | psi-mi:“MI:0914”(association) | 0.350 |
| ATAD3A | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| YWHAH | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAQ | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| INSR | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
| CDK5RAP2 | STARD9 | psi-mi:“MI:0915”(physical association) | 0.000 |
| HERPUD1 | STARD9 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NDUFA7 | STARD9 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (52): STARD9 (Affinity Capture-MS), STARD9 (Affinity Capture-MS), STARD9 (Affinity Capture-MS), STARD9 (Affinity Capture-MS), STARD9 (Affinity Capture-RNA), STARD9 (Affinity Capture-RNA), STARD9 (Affinity Capture-MS), STARD9 (Synthetic Lethality), STARD9 (Proximity Label-MS), STARD9 (Affinity Capture-MS), STARD9 (Two-hybrid), STARD9 (Two-hybrid), STARD9 (Proximity Label-MS), STARD9 (Proximity Label-MS), STARD9 (Proximity Label-MS)
ESM2 similar proteins: A0A571BF63, A0A8M9QN10, A2ARM1, A2CI97, A2CI98, A2CJ06, E9Q3C1, O15482, O54786, O70167, O70173, P0C6P5, P15304, P56645, P59729, P97433, P97499, Q0VG85, Q3V0F0, Q5BIW4, Q5BK24, Q5EB20, Q5PNP6, Q5PQS0, Q5RD34, Q5TKR9, Q5VUB5, Q61194, Q6ZUJ8, Q71M44, Q7TSI1, Q80TF6, Q80U38, Q8BV79, Q8BZ21, Q8K3F4, Q8N1W1, Q8N957, Q8ND61, Q8TB24
Diamond homologs: A0A068FIK2, A0JN40, A1ZAJ2, A8BB91, A8BKD1, B1AVY7, B7ZC32, B9FUF9, B9GE13, D3YXS5, F1M4A4, F1QN54, F4J1U4, F4K0J3, F8WLE0, L0N7N1, O14782, O15066, O35066, O35071, O35787, O43093, O43896, O55165, O60282, O60333, O88658, O95239, P17210, P23678, P28738, P28741, P33173, P33174, P33175, P33176, P34540, P46863, P46865, P46867
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PLK1 | “down-regulates quantity by destabilization” | STARD9 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 22 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 |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 5 | 223.9× | 9e-10 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 5 | 197.6× | 1e-09 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 5 | 197.6× | 1e-09 |
| Activation of BH3-only proteins | 5 | 146.0× | 4e-09 |
| RHO GTPases activate PKNs | 5 | 93.3× | 3e-08 |
| Intrinsic Pathway for Apoptosis | 5 | 86.1× | 4e-08 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 6 | 54.5× | 2e-08 |
| SARS-CoV-1-host interactions | 5 | 51.7× | 4e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intracellular protein localization | 5 | 24.9× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
979 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 778 |
| Likely benign | 128 |
| Benign | 43 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5829 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:42575760:GAG:G | donor_gain | 1.0000 |
| 15:42575760:GAGGT:G | donor_loss | 1.0000 |
| 15:42575761:AGG:A | donor_loss | 1.0000 |
| 15:42575763:G:GG | donor_gain | 1.0000 |
| 15:42585515:TTTTA:T | acceptor_loss | 1.0000 |
| 15:42585516:TTTA:T | acceptor_loss | 1.0000 |
| 15:42585517:TTA:T | acceptor_loss | 1.0000 |
| 15:42585518:TAGG:T | acceptor_loss | 1.0000 |
| 15:42634853:CA:C | acceptor_loss | 1.0000 |
| 15:42634855:G:A | acceptor_loss | 1.0000 |
| 15:42634970:CCA:C | donor_gain | 1.0000 |
| 15:42634970:CCAGT:C | donor_loss | 1.0000 |
| 15:42634971:CA:C | donor_gain | 1.0000 |
| 15:42634972:AGT:A | donor_loss | 1.0000 |
| 15:42634973:G:GG | donor_gain | 1.0000 |
| 15:42634973:GTGAG:G | donor_loss | 1.0000 |
| 15:42634974:TGAG:T | donor_loss | 1.0000 |
| 15:42634975:GAGTA:G | donor_loss | 1.0000 |
| 15:42634976:A:AT | donor_loss | 1.0000 |
| 15:42634977:G:A | donor_loss | 1.0000 |
| 15:42662778:ATT:A | acceptor_gain | 1.0000 |
| 15:42662779:T:G | acceptor_gain | 1.0000 |
| 15:42662780:T:TA | acceptor_gain | 1.0000 |
| 15:42662793:GC:G | acceptor_gain | 1.0000 |
| 15:42662871:G:GT | donor_gain | 1.0000 |
| 15:42663818:AGC:A | acceptor_gain | 1.0000 |
| 15:42663819:GCG:G | acceptor_gain | 1.0000 |
| 15:42669156:A:AG | acceptor_gain | 1.0000 |
| 15:42669157:G:GG | acceptor_gain | 1.0000 |
| 15:42669334:CAAG:C | donor_loss | 1.0000 |
AlphaMissense
30861 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:42661207:T:C | L251P | 0.997 |
| 15:42661216:T:C | L254P | 0.996 |
| 15:42675702:T:C | F576L | 0.996 |
| 15:42675703:T:C | F576S | 0.996 |
| 15:42675704:C:A | F576L | 0.996 |
| 15:42675704:C:G | F576L | 0.996 |
| 15:42718842:A:C | S4645R | 0.996 |
| 15:42718844:T:A | S4645R | 0.996 |
| 15:42718844:T:G | S4645R | 0.996 |
| 15:42663443:T:C | L344P | 0.995 |
| 15:42663488:C:A | A359D | 0.995 |
| 15:42669282:T:C | L481S | 0.995 |
| 15:42674861:C:G | C528W | 0.995 |
| 15:42675697:T:C | F574S | 0.995 |
| 15:42717791:T:A | W4519R | 0.995 |
| 15:42717791:T:C | W4519R | 0.995 |
| 15:42663865:T:C | L375P | 0.994 |
| 15:42718848:T:A | W4647R | 0.994 |
| 15:42718848:T:C | W4647R | 0.994 |
| 15:42634964:G:T | G115W | 0.993 |
| 15:42638705:T:C | L151P | 0.993 |
| 15:42652551:A:C | S221R | 0.993 |
| 15:42652553:C:A | S221R | 0.993 |
| 15:42652553:C:G | S221R | 0.993 |
| 15:42662877:T:A | V285D | 0.993 |
| 15:42663883:C:A | A381D | 0.993 |
| 15:42634929:G:A | G103E | 0.992 |
| 15:42634929:G:T | G103V | 0.992 |
| 15:42661216:T:A | L254Q | 0.992 |
| 15:42674459:G:A | G506E | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000010318 (15:42652709 T>G), RS1000022387 (15:42672453 A>G), RS1000032500 (15:42717861 TCTC>T), RS1000083450 (15:42591704 T>G), RS1000083507 (15:42652351 T>A,G), RS1000114317 (15:42637135 T>A), RS1000123522 (15:42633110 C>T), RS1000126060 (15:42706314 C>G,T), RS1000126230 (15:42628051 A>G), RS1000137798 (15:42672678 G>A), RS1000182591 (15:42669889 A>G), RS1000195857 (15:42631537 G>A), RS1000223411 (15:42588228 CTGTG>C,CTG), RS1000236878 (15:42597349 T>C), RS1000250494 (15:42577267 C>T)
Disease associations
OMIM: gene MIM:614642 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): autism spectrum disorder (MONDO:0005258)
Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002726_31 | Glucose homeostasis traits | 6.000000e-06 |
| GCST003031_1 | MGMT methylation in smokers | 3.000000e-07 |
| GCST005175_35 | Coronary artery calcified atherosclerotic plaque (90 or 130 HU threshold) in type 2 diabetes | 4.000000e-07 |
| GCST008103_17 | Bipolar disorder | 9.000000e-09 |
| GCST008103_43 | Bipolar disorder | 2.000000e-07 |
| GCST012465_8 | Bipolar disorder | 3.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004471 | insulin sensitivity measurement |
| EFO:0006959 | gene methylation measurement |
| EFO:0004723 | coronary artery calcification |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| Acetaminophen | increases expression | 2 |
| Nickel | decreases expression | 2 |
| Aflatoxin B1 | increases expression, increases methylation | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases methylation | 1 |
| titanium dioxide | decreases methylation | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| mono-(2-ethylhexyl)phthalate | increases abundance, increases methylation | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| abrine | decreases expression | 1 |
| Ethanol | affects cotreatment, increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Cisplatin | increases expression | 1 |
| Diethylhexyl Phthalate | increases abundance, increases methylation | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Folic Acid | affects cotreatment, increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Naphthoquinones | increases expression | 1 |
| Quercetin | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT01302964 | PHASE3 | COMPLETED | Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders |
| NCT01706523 | PHASE3 | TERMINATED | Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders |
| NCT01825798 | PHASE3 | COMPLETED | Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) |
| NCT01972074 | PHASE3 | COMPLETED | Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder |
| NCT02985749 | PHASE3 | COMPLETED | A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder |
| NCT03197922 | PHASE3 | COMPLETED | Treatment of Encopresis in Children With Autism Spectrum Disorders |
| NCT03504917 | PHASE3 | TERMINATED | A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension |
| NCT03553875 | PHASE3 | TERMINATED | Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions |
| NCT03640156 | PHASE3 | COMPLETED | Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin |
| NCT03715153 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder. |
| NCT03715166 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder |
| NCT04233502 | PHASE3 | WITHDRAWN | Efficacy and Safety of Slenyto for Insomnia in Children With ASD |
| NCT04578756 | PHASE3 | COMPLETED | Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder |
| NCT04623398 | PHASE3 | COMPLETED | Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency) |
| NCT04725383 | PHASE3 | TERMINATED | Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders |
| NCT05212493 | PHASE3 | COMPLETED | The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder |
| NCT05361707 | PHASE3 | UNKNOWN | Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances |
| NCT05439616 | PHASE3 | COMPLETED | Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD |
| NCT06229210 | PHASE3 | RECRUITING | Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.