SLAIN2
geneOn this page
Also known as FLJ21611
Summary
SLAIN2 (SLAIN family member 2, HGNC:29282) is a protein-coding gene on chromosome 4p11, encoding SLAIN motif-containing protein 2 (Q9P270). Binds to the plus end of microtubules and regulates microtubule dynamics and microtubule organization.
Involved in cytoplasmic microtubule organization; microtubule nucleation; and positive regulation of microtubule polymerization. Located in centrosome; cytosol; and microtubule plus-end.
Source: NCBI Gene 57606 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 116 total
- MANE Select transcript:
NM_020846
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29282 |
| Approved symbol | SLAIN2 |
| Name | SLAIN family member 2 |
| Location | 4p11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ21611 |
| Ensembl gene | ENSG00000109171 |
| Ensembl biotype | protein_coding |
| OMIM | 610492 |
| Entrez | 57606 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000264313, ENST00000505131, ENST00000506375, ENST00000510595, ENST00000512093, ENST00000888698, ENST00000917426, ENST00000942829, ENST00000942830
RefSeq mRNA: 1 — MANE Select: NM_020846
NM_020846
CCDS: CCDS47051
Canonical transcript exons
ENST00000264313 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000714284 | 48382568 | 48382927 |
| ENSE00000714290 | 48420125 | 48420443 |
| ENSE00001504518 | 48379690 | 48379848 |
| ENSE00002072714 | 48422011 | 48426201 |
| ENSE00002073420 | 48377896 | 48378060 |
| ENSE00003562075 | 48383647 | 48383784 |
| ENSE00004283636 | 48341529 | 48342128 |
| ENSE00004283637 | 48369849 | 48369997 |
Expression profiles
Bgee: expression breadth ubiquitous, 262 present calls, max score 97.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.1718 / max 163.6229, expressed in 1803 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 47567 | 9.7059 | 1787 |
| 47566 | 3.3735 | 1526 |
| 47565 | 0.5462 | 283 |
| 47564 | 0.3411 | 139 |
| 47570 | 0.2051 | 70 |
Top tissues by expression
262 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibialis anterior | UBERON:0001385 | 97.99 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 97.51 | gold quality |
| deltoid | UBERON:0001476 | 97.25 | gold quality |
| sperm | CL:0000019 | 97.18 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.05 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 96.95 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 96.62 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.60 | gold quality |
| oviduct epithelium | UBERON:0004804 | 96.00 | gold quality |
| muscle of leg | UBERON:0001383 | 95.98 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 95.92 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 95.90 | gold quality |
| vastus lateralis | UBERON:0001379 | 95.90 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 95.88 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.82 | gold quality |
| biceps brachii | UBERON:0001507 | 95.70 | gold quality |
| colonic epithelium | UBERON:0000397 | 95.65 | gold quality |
| cortical plate | UBERON:0005343 | 95.58 | gold quality |
| muscle tissue | UBERON:0002385 | 95.50 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 95.41 | gold quality |
| quadriceps femoris | UBERON:0001377 | 95.16 | gold quality |
| tendon | UBERON:0000043 | 95.14 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 95.11 | gold quality |
| ileal mucosa | UBERON:0000331 | 94.73 | gold quality |
| popliteal artery | UBERON:0002250 | 94.70 | gold quality |
| tibial artery | UBERON:0007610 | 94.69 | gold quality |
| cauda epididymis | UBERON:0004360 | 94.67 | gold quality |
| upper arm skin | UBERON:0004263 | 94.45 | gold quality |
| myocardium | UBERON:0002349 | 94.37 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.24 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
344 targeting SLAIN2, 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
Literature-anchored findings (GeneRIF, showing 2)
- Results identify SLAIN2 as a key component of microtubule plus end interaction networks. (PMID:21646404)
- catastrophe inhibition by SLAIN2 and CLASP1 supports mesenchymal cell shape in soft 3D matrices by enabling microtubules to perform a load-bearing function. (PMID:27939686)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slain2 | ENSDARG00000032114 |
| mus_musculus | Slain2 | ENSMUSG00000036087 |
| rattus_norvegicus | Slain2 | ENSRNOG00000002271 |
Paralogs (1): SLAIN1 (ENSG00000139737)
Protein
Protein identifiers
SLAIN motif-containing protein 2 — Q9P270 (reviewed: Q9P270)
All UniProt accessions (5): Q9P270, A0A024R9T6, D6REM5, D6RIF6, H0Y9L2
UniProt curated annotations — full annotation on UniProt →
Function. Binds to the plus end of microtubules and regulates microtubule dynamics and microtubule organization. Promotes cytoplasmic microtubule nucleation and elongation. Required for normal structure of the microtubule cytoskeleton during interphase.
Subunit / interactions. Interacts with CLIP1, CLIP2, CKAP5, CLASP1, MAPRE1 and MAPRE3.
Subcellular location. Cytoplasm. Cytoskeleton.
Tissue specificity. Widely expressed with highest levels in adult liver, testis and ovary, and lowest levels in adult pancreas and spleen and in fetal brain.
Post-translational modifications. Is highly phosphorylated during mitosis, but not during interphase. The highly phosphorylated form does not localize at microtubule plus ends and does not interact with MAPRE1 or CKAP5.
Domain organisation. The N-terminus forms a two-stranded coiled coil.
Similarity. Belongs to the SLAIN motif-containing family.
RefSeq proteins (1): NP_065897* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026179 | Slain | Family |
Pfam: PF15301
UniProt features (44 total): modified residue 24, compositionally biased region 9, region of interest 4, sequence conflict 2, chain 1, site 1, mutagenesis site 1, helix 1, coiled-coil region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3RDV | X-RAY DIFFRACTION | 1.75 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P270-F1 | 54.69 | 0.11 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 581 (important for interaction with clip1)
Post-translational modifications (24): 1, 43, 48, 63, 88, 134, 147, 160, 179, 247, 250, 251, 254, 315, 323, 377, 391, 413, 433, 456 …
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 581 | abolishes interaction with clip1. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 239 (showing top):
GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_CYTOPLASMIC_MICROTUBULE_ORGANIZATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MICROTUBULE_NUCLEATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION, GOBP_REGULATION_OF_MICROTUBULE_POLYMERIZATION, GOCC_CENTROSOME, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, chr4p11, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY
GO Biological Process (4): microtubule nucleation (GO:0007020), positive regulation of microtubule polymerization (GO:0031116), cytoplasmic microtubule organization (GO:0031122), regulation of microtubule polymerization (GO:0031113)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): centrosome (GO:0005813), cytosol (GO:0005829), microtubule cytoskeleton (GO:0015630), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), microtubule plus-end (GO:0035371)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| microtubule polymerization | 3 |
| microtubule cytoskeleton organization | 2 |
| cellular anatomical structure | 2 |
| positive regulation of microtubule polymerization or depolymerization | 1 |
| regulation of microtubule polymerization | 1 |
| positive regulation of protein polymerization | 1 |
| positive regulation of supramolecular fiber organization | 1 |
| supramolecular fiber organization | 1 |
| regulation of microtubule polymerization or depolymerization | 1 |
| regulation of protein polymerization | 1 |
| regulation of supramolecular fiber organization | 1 |
| binding | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| cytoplasm | 1 |
| cytoskeleton | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| microtubule end | 1 |
Protein interactions and networks
STRING
1706 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLAIN2 | CKAP5 | Q14008 | 608 |
| SLAIN2 | CLASP1 | Q7Z460 | 554 |
| SLAIN2 | SLC10A4 | Q96EP9 | 539 |
| SLAIN2 | CLASP2 | O75122 | 529 |
| SLAIN2 | ZC3H18 | Q86VM9 | 528 |
| SLAIN2 | OCIAD1 | Q9NX40 | 527 |
| SLAIN2 | CLASRP | Q8N2M8 | 501 |
| SLAIN2 | NFXL1 | Q6ZNB6 | 496 |
| SLAIN2 | METTL26 | Q96S19 | 478 |
| SLAIN2 | ARHGEF10L | Q9HCE6 | 474 |
| SLAIN2 | FRYL | O94915 | 454 |
| SLAIN2 | CLIP2 | Q9UDT6 | 445 |
| SLAIN2 | MAPRE3 | Q9UPY8 | 443 |
| SLAIN2 | AKAP1 | Q92667 | 426 |
| SLAIN2 | AFMID | Q63HM1 | 423 |
IntAct
68 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CKAP5 | TACC1 | psi-mi:“MI:0914”(association) | 0.800 |
| YWHAG | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| SLAIN2 | YWHAH | psi-mi:“MI:0914”(association) | 0.640 |
| SLAIN2 | CKAP5 | psi-mi:“MI:0915”(physical association) | 0.620 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAH | BLTP3B | psi-mi:“MI:0914”(association) | 0.570 |
| YWHAQ | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
| GRB2 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.530 |
| TSKS | RGPD8 | psi-mi:“MI:0914”(association) | 0.530 |
| TACC3 | HSPA8 | psi-mi:“MI:0914”(association) | 0.530 |
| PTPRD | SLAIN2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLAIN2 | DAPK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLAIN2 | psi-mi:“MI:0407”(direct interaction) | 0.440 | |
| Ogn | SLAIN2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SLAIN2 | SRPK2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| SLAIN2 | SRPK1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| YWHAZ | SLAIN2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TACC3 | DHRS2 | psi-mi:“MI:0914”(association) | 0.350 |
| Ckap5 | CCHCR1 | psi-mi:“MI:0914”(association) | 0.350 |
| CKAP5 | TACC3 | psi-mi:“MI:0914”(association) | 0.350 |
| MAGEA10 | XPO1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLAIN2 | TACC2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLAIN2 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| E7 | COPE | psi-mi:“MI:0914”(association) | 0.350 |
| SNAP23 | psi-mi:“MI:0914”(association) | 0.350 | |
| TUBA1A | CAPZB | psi-mi:“MI:0914”(association) | 0.350 |
| TUBA1A | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (161): SLAIN2 (Affinity Capture-MS), SLAIN2 (Proximity Label-MS), SLAIN2 (Proximity Label-MS), SLAIN2 (Proximity Label-MS), SLAIN2 (Proximity Label-MS), SLAIN2 (Proximity Label-MS), SLAIN2 (Affinity Capture-MS), SLAIN2 (Affinity Capture-MS), ADRBK1 (Affinity Capture-MS), JARID2 (Affinity Capture-MS), P4HA1 (Affinity Capture-MS), PCM1 (Affinity Capture-MS), TRIM27 (Affinity Capture-MS), FXR1 (Affinity Capture-MS), YBX3 (Affinity Capture-MS)
ESM2 similar proteins: A0A088MLT8, A0JNC2, A2AQ25, A6H7A8, B3KU38, B5DF41, E1BEQ5, E9PSK7, O15079, O60271, Q157S1, Q3MHV6, Q4VCS5, Q58A65, Q5F3B1, Q5R595, Q5T5P2, Q62739, Q68ED7, Q68FF7, Q7KW14, Q7PQ25, Q80TM6, Q80U23, Q86YP4, Q8CHY6, Q8CI08, Q8IY63, Q8ND83, Q8TEK3, Q8VHG2, Q8VHI6, Q8VHR5, Q8WXI9, Q920B0, Q921D9, Q96QF0, Q99LB0, Q9C0H9, Q9DCB4
Diamond homologs: A8E4V2, Q0VA20, Q3MHV6, Q5XG16, Q68FF7, Q7SXC6, Q8CI08, Q8ND83, Q9P270
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SMURF1 | unknown | SLAIN2 | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 83 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 | 76.1× | 3e-07 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 5 | 67.2× | 4e-07 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 5 | 67.2× | 4e-07 |
| Activation of BH3-only proteins | 5 | 49.6× | 2e-06 |
| RHO GTPases activate PKNs | 5 | 31.7× | 2e-05 |
| Intrinsic Pathway for Apoptosis | 5 | 29.3× | 2e-05 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 8 | 24.7× | 1e-07 |
| Apoptosis | 6 | 20.1× | 2e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitotic spindle organization | 7 | 27.6× | 3e-06 |
| cerebral cortex development | 5 | 14.9× | 3e-03 |
| microtubule cytoskeleton organization | 7 | 12.3× | 4e-04 |
| intracellular protein localization | 6 | 9.1× | 4e-03 |
| cell division | 9 | 6.0× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
116 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 98 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1747 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:48341830:C:G | donor_gain | 1.0000 |
| 4:48342125:GCTG:G | donor_gain | 1.0000 |
| 4:48369845:CTAG:C | acceptor_loss | 1.0000 |
| 4:48369846:TAGGC:T | acceptor_loss | 1.0000 |
| 4:48369847:A:AT | acceptor_loss | 1.0000 |
| 4:48369848:GGCT:G | acceptor_gain | 1.0000 |
| 4:48377894:A:AG | acceptor_gain | 1.0000 |
| 4:48377895:G:GG | acceptor_gain | 1.0000 |
| 4:48379687:A:AG | acceptor_gain | 1.0000 |
| 4:48379687:AAG:A | acceptor_gain | 1.0000 |
| 4:48379688:A:G | acceptor_gain | 1.0000 |
| 4:48379688:AGGTA:A | acceptor_loss | 1.0000 |
| 4:48379689:G:GC | acceptor_loss | 1.0000 |
| 4:48379689:GGT:G | acceptor_gain | 1.0000 |
| 4:48379689:GGTA:G | acceptor_gain | 1.0000 |
| 4:48379844:AGAAA:A | donor_gain | 1.0000 |
| 4:48379845:GAAA:G | donor_gain | 1.0000 |
| 4:48379845:GAAAG:G | donor_gain | 1.0000 |
| 4:48379846:AAA:A | donor_gain | 1.0000 |
| 4:48379846:AAAG:A | donor_loss | 1.0000 |
| 4:48379847:AA:A | donor_gain | 1.0000 |
| 4:48379848:AGTA:A | donor_loss | 1.0000 |
| 4:48379849:G:GG | donor_gain | 1.0000 |
| 4:48379850:TAA:T | donor_loss | 1.0000 |
| 4:48383639:T:A | acceptor_gain | 1.0000 |
| 4:48383642:TGCA:T | acceptor_loss | 1.0000 |
| 4:48383643:GCAG:G | acceptor_loss | 1.0000 |
| 4:48383644:CA:C | acceptor_loss | 1.0000 |
| 4:48383645:A:AG | acceptor_gain | 1.0000 |
| 4:48383645:A:C | acceptor_loss | 1.0000 |
AlphaMissense
3745 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:48341789:T:A | L17Q | 1.000 |
| 4:48341789:T:C | L17P | 1.000 |
| 4:48341792:A:C | Q18P | 1.000 |
| 4:48341798:T:C | L20P | 1.000 |
| 4:48341800:G:A | V21M | 1.000 |
| 4:48341810:T:A | L24Q | 1.000 |
| 4:48341810:T:C | L24P | 1.000 |
| 4:48341819:A:C | Q27P | 1.000 |
| 4:48341821:A:G | N28D | 1.000 |
| 4:48341831:T:C | L31P | 1.000 |
| 4:48379828:T:C | L281P | 1.000 |
| 4:48379830:G:C | A282P | 1.000 |
| 4:48379831:C:A | A282D | 1.000 |
| 4:48379834:G:C | R283P | 1.000 |
| 4:48379840:A:C | Q285P | 1.000 |
| 4:48382571:T:C | L289P | 1.000 |
| 4:48341776:G:A | E13K | 0.999 |
| 4:48341779:G:A | V14M | 0.999 |
| 4:48341780:T:C | V14A | 0.999 |
| 4:48341783:G:C | R15P | 0.999 |
| 4:48341789:T:G | L17R | 0.999 |
| 4:48341793:G:C | Q18H | 0.999 |
| 4:48341793:G:T | Q18H | 0.999 |
| 4:48341798:T:A | L20Q | 0.999 |
| 4:48341810:T:G | L24R | 0.999 |
| 4:48341814:G:C | E25D | 0.999 |
| 4:48341814:G:T | E25D | 0.999 |
| 4:48341823:C:A | N28K | 0.999 |
| 4:48341823:C:G | N28K | 0.999 |
| 4:48369910:T:A | W151R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000027730 (4:48380483 A>G), RS10000288 (4:48355510 A>G,T), RS1000090387 (4:48347898 G>A), RS10001054 (4:48406804 A>G,T), RS1000185279 (4:48384355 G>A), RS10003230 (4:48358608 G>A), RS1000335114 (4:48353751 G>A,T), RS10003458 (4:48358814 G>A,T), RS1000399923 (4:48421175 C>T), RS1000414833 (4:48413305 A>G), RS1000433119 (4:48342081 C>A,G), RS10004425 (4:48366942 T>A,C), RS1000457192 (4:48371416 T>A), RS1000458391 (4:48390617 A>G), RS1000521117 (4:48385778 G>A)
Disease associations
OMIM: gene MIM:610492 | 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 |
|---|---|---|
| GCST006462_16 | Uterine fibroids | 4.000000e-12 |
| GCST007096_77 | Pulse pressure | 4.000000e-08 |
| GCST007099_224 | Systolic blood pressure | 9.000000e-07 |
| GCST008103_79 | Bipolar disorder | 1.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
| EFO:0006335 | systolic blood pressure |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| methylmercuric chloride | affects cotreatment, decreases expression, increases expression | 4 |
| Valproic Acid | affects cotreatment, decreases expression, increases expression | 4 |
| trichostatin A | affects cotreatment, affects expression, decreases expression | 3 |
| Tretinoin | affects cotreatment, decreases expression, increases expression | 3 |
| sodium arsenite | affects cotreatment, decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| geldanamycin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| coumarin | increases phosphorylation | 1 |
| pentanal | decreases expression | 1 |
| 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression, affects expression | 1 |
| torcetrapib | increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression, decreases expression, affects expression | 1 |
| Vorinostat | decreases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Caffeine | affects phosphorylation | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Methotrexate | increases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Thiram | increases expression | 1 |
| Urethane | increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): uterine corpus leiomyoma