SIPA1L2
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Also known as KIAA1389SPAR2
Summary
SIPA1L2 (signal induced proliferation associated 1 like 2, HGNC:23800) is a protein-coding gene on chromosome 1q42.2, encoding Signal-induced proliferation-associated 1-like protein 2 (Q9P2F8).
This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap.
Source: NCBI Gene 57568 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 285 total
- MANE Select transcript:
NM_020808
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23800 |
| Approved symbol | SIPA1L2 |
| Name | signal induced proliferation associated 1 like 2 |
| Location | 1q42.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1389, SPAR2 |
| Ensembl gene | ENSG00000116991 |
| Ensembl biotype | protein_coding |
| OMIM | 611609 |
| Entrez | 57568 |
Gene structure
Transcript identifiers
Ensembl transcripts: 47 — 43 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000308942, ENST00000366630, ENST00000486472, ENST00000494056, ENST00000495863, ENST00000674635, ENST00000674749, ENST00000674801, ENST00000675407, ENST00000675685, ENST00000676213, ENST00000883504, ENST00000883505, ENST00000883506, ENST00000883507, ENST00000883508, ENST00000883509, ENST00000883510, ENST00000930079, ENST00000930080, ENST00000930081, ENST00000930082, ENST00000930083, ENST00000930084, ENST00000930085, ENST00000964474, ENST00000964475, ENST00000964476, ENST00000964477, ENST00000964478, ENST00000964479, ENST00000964480, ENST00000964481, ENST00000964482, ENST00000964483, ENST00000964484, ENST00000964485, ENST00000964486, ENST00000964487, ENST00000964488, ENST00000964489, ENST00000964490, ENST00000964491, ENST00000964492, ENST00000964493, ENST00000964494, ENST00000964495
RefSeq mRNA: 2 — MANE Select: NM_020808
NM_001377488, NM_020808
CCDS: CCDS41474, CCDS91174
Canonical transcript exons
ENST00000674635 — 23 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000793231 | 232415494 | 232415625 |
| ENSE00000793232 | 232425589 | 232425808 |
| ENSE00000805300 | 232428411 | 232428564 |
| ENSE00000805303 | 232460887 | 232461161 |
| ENSE00000921398 | 232402392 | 232402473 |
| ENSE00000921399 | 232403448 | 232403571 |
| ENSE00000921400 | 232404125 | 232404178 |
| ENSE00000921401 | 232432247 | 232432471 |
| ENSE00000921402 | 232439108 | 232439496 |
| ENSE00000921408 | 232483792 | 232483966 |
| ENSE00000921409 | 232490874 | 232491062 |
| ENSE00001176131 | 232441291 | 232441394 |
| ENSE00001176138 | 232441768 | 232441868 |
| ENSE00001176143 | 232443602 | 232443685 |
| ENSE00001176150 | 232445529 | 232445786 |
| ENSE00001176160 | 232464840 | 232465416 |
| ENSE00001442210 | 232397965 | 232399273 |
| ENSE00001442211 | 232513857 | 232515608 |
| ENSE00001796126 | 232479627 | 232479730 |
| ENSE00002220003 | 232471371 | 232471528 |
| ENSE00003560550 | 232493527 | 232493660 |
| ENSE00003900808 | 232574174 | 232574222 |
| ENSE00003901320 | 232629869 | 232630133 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 98.81.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.8887 / max 98.9565, expressed in 1035 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 18010 | 4.4163 | 999 |
| 201993 | 0.4392 | 263 |
| 18009 | 0.0332 | 10 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left ventricle myocardium | UBERON:0006566 | 98.81 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.56 | gold quality |
| pons | UBERON:0000988 | 97.59 | gold quality |
| decidua | UBERON:0002450 | 97.57 | gold quality |
| heart right ventricle | UBERON:0002080 | 97.40 | gold quality |
| myocardium | UBERON:0002349 | 97.09 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.41 | gold quality |
| buccal mucosa cell | CL:0002336 | 96.20 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 95.75 | gold quality |
| sural nerve | UBERON:0015488 | 95.75 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.99 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.61 | gold quality |
| endothelial cell | CL:0000115 | 94.27 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 93.88 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 93.77 | gold quality |
| tibialis anterior | UBERON:0001385 | 93.55 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 93.41 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 93.26 | gold quality |
| visceral pleura | UBERON:0002401 | 93.06 | gold quality |
| secondary oocyte | CL:0000655 | 92.97 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 92.81 | gold quality |
| cardiac ventricle | UBERON:0002082 | 91.86 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 91.85 | gold quality |
| cardiac atrium | UBERON:0002081 | 91.84 | gold quality |
| heart left ventricle | UBERON:0002084 | 91.71 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 91.65 | gold quality |
| oocyte | CL:0000023 | 91.64 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 91.58 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 91.55 | gold quality |
| tibial nerve | UBERON:0001323 | 91.43 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 24.00 |
| E-ENAD-27 | yes | 10.31 |
| E-ANND-3 | yes | 5.87 |
| E-MTAB-7303 | no | 197.14 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
146 targeting SIPA1L2, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| 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-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-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
Literature-anchored findings (GeneRIF, showing 2)
- Our results suggest that rs329648 is associated with risk of developing PD in the Han Chinese population. Our findings should be verified in further studies, and they highlight the need for functional studies of MIR4697. (PMID:28380328)
- SIPA1L2 is a potential genetic modifier of CMT1A phenotypic expressions. (PMID:30706531)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sipa1l2 | ENSDARG00000061640 |
| mus_musculus | Sipa1l2 | ENSMUSG00000001995 |
| rattus_norvegicus | Sipa1l2 | ENSRNOG00000019791 |
| drosophila_melanogaster | RapGAP1 | FBGN0264895 |
| caenorhabditis_elegans | WBGENE00018734 |
Paralogs (6): RAP1GAP (ENSG00000076864), SIPA1L3 (ENSG00000105738), RAP1GAP2 (ENSG00000132359), GARNL3 (ENSG00000136895), SIPA1L1 (ENSG00000197555), SIPA1 (ENSG00000213445)
Protein
Protein identifiers
Signal-induced proliferation-associated 1-like protein 2 — Q9P2F8 (reviewed: Q9P2F8)
All UniProt accessions (4): A0A6Q8PFQ0, A0A6Q8PGD5, A0A6Q8PH54, Q9P2F8
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9P2F8-1 | 1 | yes |
| Q9P2F8-2 | 2 |
RefSeq proteins (2): NP_001364417, NP_065859* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000331 | Rap/Ran_GAP_dom | Domain |
| IPR001478 | PDZ | Domain |
| IPR021818 | SIPA1L_C | Domain |
| IPR035974 | Rap/Ran-GAP_sf | Homologous_superfamily |
| IPR036034 | PDZ_sf | Homologous_superfamily |
| IPR050989 | Rap1_Ran_GAP | Family |
Pfam: PF00595, PF02145, PF11881, PF21022
UniProt features (42 total): modified residue 12, compositionally biased region 10, region of interest 5, sequence variant 5, splice variant 3, sequence conflict 3, domain 2, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P2F8-F1 | 56.59 | 0.24 |
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 (12): 148, 379, 383, 1029, 1244, 1461, 1472, 1478, 1488, 1549, 1552, 1591
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 192 (showing top):
WHITEHURST_PACLITAXEL_SENSITIVITY, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, PEREZ_TP63_TARGETS, GOZGIT_ESR1_TARGETS_DN, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GTTAAAG_MIR302B, ATGTTAA_MIR302C, WANG_LMO4_TARGETS_DN, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, PEREZ_TP53_AND_TP63_TARGETS, CTTTGTA_MIR524, MODULE_207, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION
GO Biological Process (3): regulation of small GTPase mediated signal transduction (GO:0051056), presynaptic signal transduction (GO:0098928), biological_process (GO:0008150)
GO Molecular Function (2): GTPase activator activity (GO:0005096), protein binding (GO:0005515)
GO Cellular Component (3): cytoplasm (GO:0005737), glutamatergic synapse (GO:0098978), cellular_component (GO:0005575)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| small GTPase-mediated signal transduction | 1 |
| regulation of intracellular signal transduction | 1 |
| signal transduction | 1 |
| GTPase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| synapse | 1 |
Protein interactions and networks
STRING
778 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SIPA1L2 | SNAPIN | O95295 | 614 |
| SIPA1L2 | PRR35 | P0CG20 | 576 |
| SIPA1L2 | DDRGK1 | Q96HY6 | 567 |
| SIPA1L2 | VPS13C | Q709C8 | 544 |
| SIPA1L2 | KBTBD12 | Q3ZCT8 | 523 |
| SIPA1L2 | RIT2 | Q99578 | 507 |
| SIPA1L2 | RRP36 | Q96EU6 | 493 |
| SIPA1L2 | SPMIP7 | A4D263 | 472 |
| SIPA1L2 | KLHDC8B | Q8IXV7 | 472 |
| SIPA1L2 | TOGARAM1 | Q9Y4F4 | 469 |
| SIPA1L2 | IHO1 | Q8IYA8 | 455 |
| SIPA1L2 | KCNG3 | Q8TAE7 | 450 |
| SIPA1L2 | VWC2 | Q2TAL6 | 445 |
| SIPA1L2 | LZTS3 | O60299 | 443 |
| SIPA1L2 | PKDCC | Q504Y2 | 437 |
IntAct
525 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAG | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.640 |
| PRG2 | YPEL5 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| E | SIPA1L2 | psi-mi:“MI:0915”(physical association) | 0.610 |
| YWHAB | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.610 |
| E | SIPA1L2 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| SIPA1L2 | E6 | psi-mi:“MI:0915”(physical association) | 0.590 |
| E6 | SIPA1L2 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| YWHAG | SHTN1 | psi-mi:“MI:0914”(association) | 0.560 |
| TSPYL1 | GPC3 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAQ | IGLC7 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAB | SHTN1 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAE | SHTN1 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAZ | SHTN1 | psi-mi:“MI:0914”(association) | 0.530 |
| YWHAZ | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| DYRK1B | BMAL1 | psi-mi:“MI:0914”(association) | 0.530 |
| GNG4 | SIPA1L2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CREBBP | SIPA1L2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| E6 | SIPA1L2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| Tax | SIPA1L2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| NET1 | SIPA1L2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PTEN | SIPA1L2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RPS6KA1 | SIPA1L2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| E | SIPA1L2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GP1 | SIPA1L2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ABCA1 | SIPA1L2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ABRAXAS2 | SIPA1L2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (173): SIPA1L2 (Two-hybrid), SIPA1L2 (Affinity Capture-MS), SIPA1L2 (Affinity Capture-MS), SIPA1L2 (Affinity Capture-MS), SIPA1L2 (Proximity Label-MS), SIPA1L2 (Proximity Label-MS), SIPA1L2 (Proximity Label-MS), SIPA1L2 (Proximity Label-MS), SIPA1L2 (Proximity Label-MS), SIPA1L2 (Proximity Label-MS), SIPA1L2 (Affinity Capture-MS), SIPA1L2 (Affinity Capture-MS), SIPA1L2 (Affinity Capture-MS), SIPA1L2 (Affinity Capture-MS), SIPA1L2 (Affinity Capture-MS)
ESM2 similar proteins: A1A5R8, A8KBE0, B4F6Q9, E7FA21, O43166, P53804, P62287, P62289, P62290, P62291, P62292, P62293, P62294, Q06190, Q08AX9, Q0VA42, Q12923, Q13829, Q3UMB5, Q5F3E8, Q5JCS6, Q5RA75, Q5RBH4, Q5TB30, Q5XKL5, Q5ZIX8, Q65Z40, Q68FF0, Q6DJS0, Q6GQJ2, Q6IE81, Q6ING4, Q6IRN6, Q6NPP4, Q6NSI8, Q6PUR7, Q7Z5K2, Q7ZXG4, Q8C0T5, Q8CIG0
Diamond homologs: A2ALS5, A5PF44, G3X9J0, O35412, O43166, O60292, P46062, P47736, P49815, P49816, Q3V0G7, Q54EH3, Q55AN8, Q5JCS6, Q5SVL6, Q5VVW2, Q5ZJY3, Q5ZMV8, Q61037, Q684P5, Q75J96, Q80TE4, Q8C0T5, Q96FS4, Q9P2F8, Q2PPJ7, Q9UUG9, A3KGS3, P86411, Q6GYQ0, Q8BUL6, Q9HB21, Q54TK4, Q9VB98, O55007, Q6GYP7, Q54SS8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 178 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 | 7 | 47.2× | 8e-09 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 7 | 41.6× | 2e-08 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 41.6× | 2e-08 |
| Activation of BH3-only proteins | 7 | 30.8× | 1e-07 |
| RHO GTPases activate PKNs | 7 | 19.6× | 4e-06 |
| Intrinsic Pathway for Apoptosis | 7 | 18.1× | 5e-06 |
| FOXO-mediated transcription | 6 | 17.8× | 4e-05 |
| Transcriptional and post-translational regulation of MITF-M expression and activity | 8 | 12.6× | 1e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intracellular protein localization | 10 | 6.6× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
285 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 240 |
| Likely benign | 13 |
| Benign | 10 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4049 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:232402379:T:TA | donor_gain | 1.0000 |
| 1:232402387:ATTAC:A | donor_loss | 1.0000 |
| 1:232402388:TTACC:T | donor_loss | 1.0000 |
| 1:232402389:TACCT:T | donor_loss | 1.0000 |
| 1:232402391:C:CT | donor_loss | 1.0000 |
| 1:232402394:T:A | donor_gain | 1.0000 |
| 1:232403572:C:CC | acceptor_gain | 1.0000 |
| 1:232415488:CTTTA:C | donor_loss | 1.0000 |
| 1:232415489:TTTA:T | donor_loss | 1.0000 |
| 1:232415490:TTA:T | donor_loss | 1.0000 |
| 1:232415491:TACC:T | donor_loss | 1.0000 |
| 1:232415621:CTCAT:C | acceptor_gain | 1.0000 |
| 1:232415622:TCAT:T | acceptor_gain | 1.0000 |
| 1:232415623:CAT:C | acceptor_gain | 1.0000 |
| 1:232415623:CATC:C | acceptor_gain | 1.0000 |
| 1:232415625:TC:T | acceptor_loss | 1.0000 |
| 1:232415626:C:CC | acceptor_gain | 1.0000 |
| 1:232425587:A:AC | donor_gain | 1.0000 |
| 1:232425588:C:CC | donor_gain | 1.0000 |
| 1:232425588:CTTCT:C | donor_gain | 1.0000 |
| 1:232425796:C:T | acceptor_gain | 1.0000 |
| 1:232428406:CTAA:C | donor_loss | 1.0000 |
| 1:232428407:TAA:T | donor_loss | 1.0000 |
| 1:232428408:AACCT:A | donor_loss | 1.0000 |
| 1:232428409:A:AG | donor_loss | 1.0000 |
| 1:232428561:CATC:C | acceptor_gain | 1.0000 |
| 1:232428565:C:CC | acceptor_gain | 1.0000 |
| 1:232439102:GCTTA:G | donor_loss | 1.0000 |
| 1:232439103:CTTA:C | donor_loss | 1.0000 |
| 1:232439104:TTA:T | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000001614 (1:232614767 AG>A), RS1000006790 (1:232447231 T>C), RS1000016017 (1:232573904 G>A), RS1000035190 (1:232447424 A>C), RS1000056111 (1:232569168 T>C), RS1000077031 (1:232534839 CCT>C), RS1000093375 (1:232575966 G>A), RS1000150365 (1:232478707 T>C), RS1000160385 (1:232474256 G>A), RS1000173515 (1:232609190 T>C), RS1000175947 (1:232467498 G>A,C), RS1000179553 (1:232505657 C>T), RS1000210677 (1:232625837 T>C), RS1000224110 (1:232608919 A>G), RS1000230954 (1:232563309 T>C)
Disease associations
OMIM: gene MIM:611609 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000763_1 | Immunoglobulin A | 1.000000e-06 |
| GCST002361_17 | Smooth-surface caries | 8.000000e-06 |
| GCST002401_1 | Post-traumatic stress disorder | 8.000000e-06 |
| GCST002544_12 | Parkinson’s disease | 5.000000e-10 |
| GCST004902_41 | Parkinson’s disease | 8.000000e-13 |
| GCST007205_7 | Schizophrenia | 1.000000e-06 |
| GCST007304_1 | Reduced foot dorsiflexion strength in Charcot-Marie-Tooth disease type 1A | 6.000000e-08 |
| GCST009325_85 | Parkinson’s disease or first degree relation to individual with Parkinson’s disease | 7.000000e-17 |
| GCST010320_119 | PR interval | 3.000000e-14 |
| GCST010321_183 | PR interval | 3.000000e-15 |
| GCST010989_191 | Body size at age 10 | 7.000000e-09 |
| GCST010991_27 | Parkinson’s disease | 2.000000e-07 |
| GCST011696_5 | Alzheimer’s disease | 6.000000e-07 |
| GCST012307_3 | Bipolar disorder x sex interaction | 2.000000e-06 |
| GCST90000047_22 | Age at first sexual intercourse | 2.000000e-08 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004747 | protein measurement |
| EFO:0004462 | PR interval |
| EFO:0009819 | comparative body size at age 10, self-reported |
| EFO:0008343 | sex interaction measurement |
| EFO:0009749 | age at first sexual intercourse measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
72 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression, decreases methylation | 4 |
| Valproic Acid | decreases expression, increases expression | 4 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression, increases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| mercuric bromide | affects cotreatment, increases expression | 2 |
| (+)-JQ1 compound | increases expression | 2 |
| Benzo(a)pyrene | increases expression | 2 |
| Cisplatin | affects expression | 2 |
| Estradiol | affects cotreatment, increases expression, decreases reaction | 2 |
| Ethinyl Estradiol | affects expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| mivebresib | increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| chloroacetaldehyde | decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | increases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| diallyl trisulfide | decreases expression | 1 |
| beta-methylcholine | affects 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): post-traumatic stress disorder, smooth surface dental caries