STRBP
gene geneOn this page
Also known as FLJ11307SPNR
Summary
STRBP (spermatid perinuclear RNA binding protein, HGNC:16462) is a protein-coding gene on chromosome 9q33.3, encoding Spermatid perinuclear RNA-binding protein (Q96SI9). Involved in spermatogenesis and sperm function.
Enables RNA binding activity. Predicted to be involved in cell differentiation and spermatogenesis. Predicted to act upstream of or within cell motility; mechanosensory behavior; and spermatid development. Located in nucleus.
Source: NCBI Gene 55342 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 73 total
- MANE Select transcript:
NM_018387
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16462 |
| Approved symbol | STRBP |
| Name | spermatid perinuclear RNA binding protein |
| Location | 9q33.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11307, SPNR |
| Ensembl gene | ENSG00000165209 |
| Ensembl biotype | protein_coding |
| OMIM | 611138 |
| Entrez | 55342 |
Gene structure
Transcript identifiers
Ensembl transcripts: 29 — 23 protein_coding, 4 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000348403, ENST00000360998, ENST00000407982, ENST00000447404, ENST00000471564, ENST00000478973, ENST00000479114, ENST00000492885, ENST00000496533, ENST00000530364, ENST00000878273, ENST00000878274, ENST00000878275, ENST00000878276, ENST00000878277, ENST00000878278, ENST00000878279, ENST00000878280, ENST00000932652, ENST00000932653, ENST00000932654, ENST00000932655, ENST00000932656, ENST00000932657, ENST00000932658, ENST00000932659, ENST00000932660, ENST00000970350, ENST00000970351
RefSeq mRNA: 5 — MANE Select: NM_018387
NM_001171137, NM_001376106, NM_001376107, NM_001376109, NM_018387
CCDS: CCDS55337, CCDS6851
Canonical transcript exons
ENST00000348403 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001287138 | 123173677 | 123173842 |
| ENSE00001327887 | 123236830 | 123236966 |
| ENSE00001728022 | 123121617 | 123125673 |
| ENSE00003473955 | 123147778 | 123147870 |
| ENSE00003481471 | 123158332 | 123158429 |
| ENSE00003485892 | 123184132 | 123184298 |
| ENSE00003522375 | 123160367 | 123160462 |
| ENSE00003539553 | 123159096 | 123159207 |
| ENSE00003547336 | 123136381 | 123136515 |
| ENSE00003560758 | 123139529 | 123139687 |
| ENSE00003564023 | 123146855 | 123147054 |
| ENSE00003576993 | 123132845 | 123132968 |
| ENSE00003591136 | 123128214 | 123128258 |
| ENSE00003610091 | 123158012 | 123158123 |
| ENSE00003620842 | 123136041 | 123136181 |
| ENSE00003672110 | 123160977 | 123161068 |
| ENSE00003689174 | 123169902 | 123170046 |
| ENSE00003787305 | 123179007 | 123179227 |
| ENSE00003890679 | 123268436 | 123268586 |
Expression profiles
Bgee: expression breadth ubiquitous, 253 present calls, max score 98.47.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.7166 / max 602.8518, expressed in 1685 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 102408 | 23.3713 | 1682 |
| 102407 | 1.1526 | 403 |
| 102404 | 0.1845 | 73 |
| 102403 | 0.0081 | 2 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 98.47 | gold quality |
| primary visual cortex | UBERON:0002436 | 98.17 | gold quality |
| occipital lobe | UBERON:0002021 | 97.68 | gold quality |
| oocyte | CL:0000023 | 97.14 | gold quality |
| cortical plate | UBERON:0005343 | 96.73 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.53 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.31 | gold quality |
| sperm | CL:0000019 | 95.99 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.19 | gold quality |
| endothelial cell | CL:0000115 | 95.07 | gold quality |
| oviduct epithelium | UBERON:0004804 | 94.68 | gold quality |
| parietal lobe | UBERON:0001872 | 94.66 | gold quality |
| postcentral gyrus | UBERON:0002581 | 94.60 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 94.56 | gold quality |
| parotid gland | UBERON:0001831 | 94.48 | gold quality |
| bronchial epithelial cell | CL:0002328 | 94.39 | gold quality |
| right uterine tube | UBERON:0001302 | 94.10 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 94.09 | gold quality |
| bronchus | UBERON:0002185 | 94.04 | gold quality |
| ileal mucosa | UBERON:0000331 | 93.78 | gold quality |
| left testis | UBERON:0004533 | 93.38 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 93.27 | gold quality |
| right testis | UBERON:0004534 | 93.19 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 92.88 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 92.68 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.64 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 92.59 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 92.49 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 92.48 | gold quality |
| testis | UBERON:0000473 | 92.35 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 37.49 |
| E-ANND-3 | yes | 15.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
260 targeting STRBP, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| 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 |
Literature-anchored findings (GeneRIF, showing 3)
- Low STRBP mRNA is associated with cryptorchidism and Down’s syndrome. (PMID:22391137)
- Spermatid perinuclear RNA-binding protein promotes UBR5-mediated proteolysis of Dicer to accelerate triple-negative breast cancer progression. (PMID:38280476)
- CircSTRBP contributes to H2O2-induced lens epithelium cell dysfunction through increasing NOX4 mRNA stability by recruiting IGF2BP1. (PMID:38340945)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | strbp | ENSDARG00000021455 |
| mus_musculus | Strbp | ENSMUSG00000026915 |
| rattus_norvegicus | Strbp | ENSRNOG00000010150 |
| drosophila_melanogaster | loqs | FBGN0032515 |
| drosophila_melanogaster | CG12493 | FBGN0035571 |
| drosophila_melanogaster | blanks | FBGN0035608 |
| drosophila_melanogaster | Zn72D | FBGN0263603 |
| caenorhabditis_elegans | zfr-1 | WBGENE00022388 |
Paralogs (14): STAU2 (ENSG00000040341), ZFR (ENSG00000056097), ADAT1 (ENSG00000065457), ZFR2 (ENSG00000105278), STAU1 (ENSG00000124214), ILF3 (ENSG00000129351), TARBP2 (ENSG00000139546), ADAD2 (ENSG00000140955), ILF2 (ENSG00000143621), ADAR (ENSG00000160710), ADAD1 (ENSG00000164113), PRKRA (ENSG00000180228), ADARB2 (ENSG00000185736), ADARB1 (ENSG00000197381)
Protein
Protein identifiers
Spermatid perinuclear RNA-binding protein — Q96SI9 (reviewed: Q96SI9)
All UniProt accessions (8): A0A0S2Z5K8, E9PKQ0, Q96SI9, H0YC91, H0YD00, H0YD70, Q5JPA5, V9HWK4
UniProt curated annotations — full annotation on UniProt →
Function. Involved in spermatogenesis and sperm function. Plays a role in regulation of cell growth. Binds to double-stranded DNA and RNA. Binds most efficiently to poly(I:C) RNA than to poly(dI:dC) DNA. Binds also to single-stranded poly(G) RNA. Binds non-specifically to the mRNA PRM1 3’-UTR and adenovirus VA RNA.
Subunit / interactions. Interacts with EIF2AK2. Associates with microtubules; it is unsure whether such interaction is direct or indirect.
Subcellular location. Cytoplasm.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96SI9-1 | 1 | yes |
| Q96SI9-2 | 2 |
RefSeq proteins (5): NP_001164608, NP_001363035, NP_001363036, NP_001363038, NP_060857* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006561 | DZF_dom | Domain |
| IPR014720 | dsRBD_dom | Domain |
| IPR043519 | NT_sf | Homologous_superfamily |
| IPR044472 | STRBP_DSRM_1 | Domain |
| IPR049401 | DZF_dom_N | Domain |
| IPR049402 | DZF_dom_C | Domain |
Pfam: PF00035, PF07528, PF20965
UniProt features (23 total): strand 5, domain 3, region of interest 3, compositionally biased region 3, modified residue 2, sequence conflict 2, helix 2, chain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2DMY | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96SI9-F1 | 73.42 | 0.51 |
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 (2): 612, 617
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 251 (showing top):
GOBP_BEHAVIOR, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOZGIT_ESR1_TARGETS_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, ATGCAGT_MIR217, GOBP_MALE_GAMETE_GENERATION, MARTINEZ_RB1_TARGETS_UP, MUELLER_PLURINET, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, LIAO_METASTASIS, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, RYTTCCTG_ETS2_B, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION
GO Biological Process (5): spermatid development (GO:0007286), mechanosensory behavior (GO:0007638), cell motility (GO:0048870), spermatogenesis (GO:0007283), cell differentiation (GO:0030154)
GO Molecular Function (7): DNA binding (GO:0003677), RNA binding (GO:0003723), double-stranded RNA binding (GO:0003725), single-stranded RNA binding (GO:0003727), microtubule binding (GO:0008017), protein binding (GO:0005515), tubulin binding (GO:0015631)
GO Cellular Component (4): manchette (GO:0002177), nucleus (GO:0005634), cytoplasm (GO:0005737), microtubule cytoskeleton (GO:0015630)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nucleic acid binding | 2 |
| RNA binding | 2 |
| cellular anatomical structure | 2 |
| germ cell development | 1 |
| spermatid differentiation | 1 |
| behavior | 1 |
| response to mechanical stimulus | 1 |
| cellular process | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| cellular developmental process | 1 |
| tubulin binding | 1 |
| binding | 1 |
| cytoskeletal protein binding | 1 |
| microtubule cytoskeleton | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoskeleton | 1 |
Protein interactions and networks
STRING
1230 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STRBP | EIF2AK2 | P19525 | 759 |
| STRBP | DDX17 | Q92841 | 696 |
| STRBP | POLDIP3 | Q9BY77 | 685 |
| STRBP | PIF1 | Q9H611 | 667 |
| STRBP | PRM1 | P04553 | 563 |
| STRBP | U2AF2 | P26368 | 535 |
| STRBP | A0A087WZY1 | A0A087WZY1 | 516 |
| STRBP | PRH1 | P02810 | 507 |
| STRBP | POLA1 | P09884 | 452 |
| STRBP | ZNF398 | Q8TD17 | 450 |
| STRBP | GPR21 | Q99679 | 431 |
| STRBP | DYNLT1 | P63172 | 429 |
| STRBP | THAP1 | Q9NVV9 | 428 |
| STRBP | NUP62 | P37198 | 427 |
| STRBP | UNC79 | Q9P2D8 | 426 |
| STRBP | SPAG1 | Q07617 | 426 |
IntAct
167 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HNRNPC | KPNA3 | psi-mi:“MI:0914”(association) | 0.850 |
| THAP1 | STRBP | psi-mi:“MI:0915”(physical association) | 0.780 |
| STRBP | THAP1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| TARBP2 | STRBP | psi-mi:“MI:0915”(physical association) | 0.670 |
| STRBP | RBPMS | psi-mi:“MI:0915”(physical association) | 0.670 |
| STRBP | TARBP2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| PRKRA | STRBP | psi-mi:“MI:0915”(physical association) | 0.670 |
| RBPMS | STRBP | psi-mi:“MI:0915”(physical association) | 0.670 |
| IGF2BP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| RAC1 | COX6C | psi-mi:“MI:0914”(association) | 0.640 |
| ASF1B | HAT1 | psi-mi:“MI:0914”(association) | 0.640 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| DAB1 | STRBP | psi-mi:“MI:0915”(physical association) | 0.560 |
| STRBP | DAB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STRBP | RBPMS | psi-mi:“MI:0915”(physical association) | 0.560 |
| STRBP | RBFOX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STRBP | ZMAT4 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (294): STRBP (Two-hybrid), STRBP (Two-hybrid), STRBP (Two-hybrid), STRBP (Two-hybrid), STRBP (Affinity Capture-MS), STRBP (Affinity Capture-MS), STRBP (Affinity Capture-MS), STRBP (Affinity Capture-MS), STRBP (Affinity Capture-MS), STRBP (Affinity Capture-MS), STRBP (Affinity Capture-MS), STRBP (Two-hybrid), STRBP (Two-hybrid), STRBP (Affinity Capture-RNA), STRBP (Affinity Capture-MS)
ESM2 similar proteins: A0A8C0TYJ0, A2AWA9, A2VDZ9, A5GFS8, O70133, O76031, O88506, O95292, O95747, Q08E27, Q0VCY1, Q12959, Q13330, Q15691, Q16514, Q3T174, Q3ZBD9, Q5PYH5, Q5R495, Q5R601, Q5R6Y5, Q5R7N3, Q5R7Z5, Q5U2U0, Q5ZHN3, Q5ZIL4, Q61166, Q61187, Q62599, Q62696, Q66HR2, Q68FK8, Q6AY57, Q6IRE4, Q6ZVM7, Q7ZWU5, Q80W47, Q811D0, Q863I2, Q8K4B0
Diamond homologs: O88532, Q08E27, Q0VD35, Q12906, Q562A2, Q5R6Y5, Q5REX3, Q5U231, Q5ZIL4, Q6DCD0, Q6DD04, Q6GL57, Q6GPM1, Q6NXA4, Q6PCR6, Q7TP98, Q91550, Q91WM1, Q96KR1, Q96SI9, Q9H898, Q9JIL3, Q9JKU6, Q9UPR6, Q9Z1X4, A2RFW8, A8AWC2, B5XKB7, B8GAM6, C0MCR4, P0DF14, P0DF15, P51400, P55265, P55266, P66670, P66672, P78563, P97473, P97616
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 162 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 |
|---|---|---|---|
| PKR-mediated signaling | 7 | 9.3× | 9e-04 |
| mRNA Polyadenylation | 9 | 7.5× | 6e-04 |
| Processing of Capped Intron-Containing Pre-mRNA | 9 | 7.0× | 8e-04 |
| mRNA Splicing - Major Pathway | 12 | 6.2× | 1e-04 |
| Major pathway of rRNA processing in the nucleolus and cytosol | 10 | 5.8× | 9e-04 |
| Dengue Virus-Host Interactions | 13 | 5.6× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of cytoplasmic translation | 5 | 34.9× | 8e-05 |
| positive regulation of viral genome replication | 5 | 20.5× | 5e-04 |
| negative regulation of translation | 10 | 13.8× | 3e-06 |
| RNA processing | 8 | 12.3× | 8e-05 |
| ribosomal small subunit biogenesis | 7 | 11.2× | 4e-04 |
| positive regulation of translation | 7 | 11.2× | 4e-04 |
| regulation of alternative mRNA splicing, via spliceosome | 6 | 10.3× | 3e-03 |
| translation | 8 | 5.8× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
73 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 49 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3813 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:123128729:T:A | donor_gain | 1.0000 |
| 9:123136035:TCATA:T | donor_loss | 1.0000 |
| 9:123136036:CATAC:C | donor_loss | 1.0000 |
| 9:123136038:TACCT:T | donor_loss | 1.0000 |
| 9:123136039:ACC:A | donor_loss | 1.0000 |
| 9:123136040:C:CG | donor_loss | 1.0000 |
| 9:123136182:CTAC:C | acceptor_loss | 1.0000 |
| 9:123136183:T:C | acceptor_loss | 1.0000 |
| 9:123136376:CACA:C | donor_loss | 1.0000 |
| 9:123136377:ACACC:A | donor_loss | 1.0000 |
| 9:123136378:CACCT:C | donor_loss | 1.0000 |
| 9:123136379:A:C | donor_loss | 1.0000 |
| 9:123136379:ACCT:A | donor_gain | 1.0000 |
| 9:123136380:C:G | donor_loss | 1.0000 |
| 9:123136380:CCTC:C | donor_gain | 1.0000 |
| 9:123136511:CTTAC:C | acceptor_gain | 1.0000 |
| 9:123136514:ACC:A | acceptor_loss | 1.0000 |
| 9:123136516:C:CG | acceptor_loss | 1.0000 |
| 9:123146850:TGTA:T | donor_loss | 1.0000 |
| 9:123146852:TAC:T | donor_loss | 1.0000 |
| 9:123146853:A:AG | donor_loss | 1.0000 |
| 9:123147055:C:CC | acceptor_gain | 1.0000 |
| 9:123147773:CA:C | donor_gain | 1.0000 |
| 9:123147773:CACA:C | donor_gain | 1.0000 |
| 9:123147776:A:AC | donor_gain | 1.0000 |
| 9:123147777:C:CT | donor_gain | 1.0000 |
| 9:123147777:CTTTT:C | donor_gain | 1.0000 |
| 9:123147781:T:TA | donor_gain | 1.0000 |
| 9:123147786:A:AC | donor_gain | 1.0000 |
| 9:123147787:A:C | donor_gain | 1.0000 |
AlphaMissense
4381 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:123136093:A:G | L574P | 1.000 |
| 9:123136102:A:C | L571W | 1.000 |
| 9:123136102:A:G | L571S | 1.000 |
| 9:123136105:G:T | A570D | 1.000 |
| 9:123136106:C:G | A570P | 1.000 |
| 9:123136114:G:A | A567V | 1.000 |
| 9:123136114:G:T | A567D | 1.000 |
| 9:123136115:C:G | A567P | 1.000 |
| 9:123136115:C:T | A567T | 1.000 |
| 9:123136117:G:T | A566E | 1.000 |
| 9:123136118:C:G | A566P | 1.000 |
| 9:123136123:G:T | A564E | 1.000 |
| 9:123136124:C:G | A564P | 1.000 |
| 9:123136125:C:A | K563N | 1.000 |
| 9:123136125:C:G | K563N | 1.000 |
| 9:123136126:T:A | K563M | 1.000 |
| 9:123136126:T:G | K563T | 1.000 |
| 9:123136127:T:C | K563E | 1.000 |
| 9:123136127:T:G | K563Q | 1.000 |
| 9:123136129:G:A | A562V | 1.000 |
| 9:123136129:G:T | A562E | 1.000 |
| 9:123136130:C:G | A562P | 1.000 |
| 9:123136130:C:T | A562T | 1.000 |
| 9:123136134:T:A | K560N | 1.000 |
| 9:123136134:T:G | K560N | 1.000 |
| 9:123136135:T:A | K560I | 1.000 |
| 9:123136136:T:C | K560E | 1.000 |
| 9:123136136:T:G | K560Q | 1.000 |
| 9:123136137:C:A | K559N | 1.000 |
| 9:123136137:C:G | K559N | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000007828 (9:123162001 C>T), RS1000011260 (9:123235886 T>C), RS1000018521 (9:123128650 T>A,C), RS1000029776 (9:123208110 CTG>C), RS1000035919 (9:123146094 A>G), RS1000054217 (9:123114715 T>C), RS1000057392 (9:123177990 A>T), RS1000087821 (9:123256923 T>C), RS1000089836 (9:123147377 C>A), RS1000136686 (9:123230862 C>T), RS1000158278 (9:123203396 C>T), RS1000186378 (9:123187173 C>G), RS1000205511 (9:123256704 C>G), RS1000220308 (9:123205910 C>T), RS1000234452 (9:123213088 A>G)
Disease associations
OMIM: gene MIM:611138 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005146_13 | Birth weight | 1.000000e-12 |
| GCST005951_64 | Body mass index | 2.000000e-10 |
| GCST008053_108 | Height | 2.000000e-11 |
| GCST008053_186 | Height | 4.000000e-07 |
| GCST008839_63 | Height | 1.000000e-12 |
| GCST009616_3 | HDL cholesterol levels x thiazide or thiazide-like diuretics use interaction | 7.000000e-07 |
| GCST010703_296 | Brain morphology (MOSTest) | 2.000000e-14 |
| GCST90002388_227 | Lymphocyte count | 2.000000e-10 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004344 | birth weight |
| EFO:0004340 | body mass index |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004587 | lymphocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs9032 | Efficacy | 3 | methylphenidate | Attention Deficit Disorder with Hyperactivity |
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tetrachlorodibenzodioxin | decreases expression, increases expression | 3 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| urushiol | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Cidofovir | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Atrazine | increases expression | 1 |
| Benzene | decreases expression | 1 |
| Caffeine | decreases expression | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | affects cotreatment, increases 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.