SNTB2
gene geneOn this page
Also known as EST25263SNT3
Summary
SNTB2 (syntrophin beta 2, HGNC:11169) is a protein-coding gene on chromosome 16q22.1, encoding Beta-2-syntrophin (Q13425). Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins.
Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes.
Source: NCBI Gene 6645 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 78 total
- MANE Select transcript:
NM_006750
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11169 |
| Approved symbol | SNTB2 |
| Name | syntrophin beta 2 |
| Location | 16q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | EST25263, SNT3 |
| Ensembl gene | ENSG00000168807 |
| Ensembl biotype | protein_coding |
| OMIM | 600027 |
| Entrez | 6645 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 4 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000336278, ENST00000360496, ENST00000467311, ENST00000524887, ENST00000525632, ENST00000528525, ENST00000958019
RefSeq mRNA: 1 — MANE Select: NM_006750
NM_006750
CCDS: CCDS10873
Canonical transcript exons
ENST00000336278 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001141172 | 69260050 | 69260260 |
| ENSE00001433225 | 69300832 | 69309052 |
| ENSE00001870740 | 69187164 | 69187746 |
| ENSE00003513511 | 69284048 | 69284244 |
| ENSE00003536899 | 69270143 | 69270285 |
| ENSE00003682864 | 69299590 | 69299774 |
| ENSE00003688808 | 69245602 | 69245815 |
Expression profiles
Bgee: expression breadth ubiquitous, 279 present calls, max score 97.04.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.3706 / max 505.7435, expressed in 1808 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154808 | 19.9611 | 1802 |
| 154809 | 3.4095 | 1315 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibia | UBERON:0000979 | 97.04 | gold quality |
| parietal pleura | UBERON:0002400 | 95.52 | gold quality |
| nipple | UBERON:0002030 | 95.03 | gold quality |
| synovial joint | UBERON:0002217 | 94.72 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 94.69 | gold quality |
| vena cava | UBERON:0004087 | 94.62 | gold quality |
| skin of hip | UBERON:0001554 | 94.16 | gold quality |
| mammary duct | UBERON:0001765 | 94.09 | gold quality |
| pericardium | UBERON:0002407 | 93.91 | gold quality |
| urethra | UBERON:0000057 | 93.44 | gold quality |
| visceral pleura | UBERON:0002401 | 93.29 | gold quality |
| pleura | UBERON:0000977 | 93.26 | gold quality |
| cauda epididymis | UBERON:0004360 | 92.83 | gold quality |
| saphenous vein | UBERON:0007318 | 92.80 | gold quality |
| seminal vesicle | UBERON:0000998 | 92.61 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 92.31 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.19 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 92.05 | gold quality |
| lower lobe of lung | UBERON:0008949 | 91.40 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 91.28 | gold quality |
| penis | UBERON:0000989 | 91.27 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 91.09 | gold quality |
| mammary gland | UBERON:0001911 | 90.96 | gold quality |
| mammalian vulva | UBERON:0000997 | 90.93 | gold quality |
| superficial temporal artery | UBERON:0001614 | 90.70 | gold quality |
| upper leg skin | UBERON:0004262 | 90.23 | gold quality |
| tendon | UBERON:0000043 | 90.18 | gold quality |
| endometrium epithelium | UBERON:0004811 | 89.97 | gold quality |
| adult organism | UBERON:0007023 | 89.94 | gold quality |
| caput epididymis | UBERON:0004358 | 89.77 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 13.23 |
| E-MTAB-7249 | no | 296.32 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1
miRNA regulators (miRDB)
337 targeting SNTB2, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
Literature-anchored findings (GeneRIF, showing 4)
- patients with deficiency of beta2-syntrophin and alpha-dystrobrevin presented with severe congenital weakness and died in the first year of life (PMID:12899872)
- conformational plasticity of the native ensemble of this PDZ domain and the regulation of insulin secretion (PMID:22735534)
- Reduced Na(+) Current in Native Cardiomyocytes of a Brugada Syndrome Patient Associated With beta-2-Syntrophin Mutation. (PMID:30571189)
- Current study shows that high SNTB2 in obese adipose tissues restricts adipocyte growth and thereby may contribute to metabolic diseases. (PMID:30990585)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sntb2 | ENSDARG00000051763 |
| mus_musculus | Sntb2 | ENSMUSG00000041308 |
| rattus_norvegicus | Sntb2 | ENSRNOG00000020344 |
| drosophila_melanogaster | Syn1 | FBGN0037130 |
| caenorhabditis_elegans | stn-1 | WBGENE00006062 |
Paralogs (4): SNTA1 (ENSG00000101400), SNTG1 (ENSG00000147481), SNTB1 (ENSG00000172164), SNTG2 (ENSG00000172554)
Protein
Protein identifiers
Beta-2-syntrophin — Q13425 (reviewed: Q13425)
Alternative names: 59 kDa dystrophin-associated protein A1 basic component 2, Syntrophin-3, Syntrophin-like
All UniProt accessions (4): Q13425, H0YCS0, H7BY41, J3KT21
UniProt curated annotations — full annotation on UniProt →
Function. Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. May play a role in the regulation of secretory granules via its interaction with PTPRN.
Subunit / interactions. Monomer and homodimer. Interacts with the other members of the syntrophin family: SNTA1 and SNTB1; and with the sodium channel proteins SCN4A and SCN5A. Interacts with SAST, MAST205, microtubules and microtubule-associated proteins. Interacts with the dystrophin protein DMD and related proteins DTNA and UTRN, and with the neuroregulin receptor ERBB4. Interacts with PTPRN when phosphorylated, protecting PTPRN from protein cleavage by CAPN1. Dephosphorylation upon insulin stimulation disrupts the interaction with PTPRN and results in the cleavage of PTPRN. Interacts with DTNB.
Subcellular location. Membrane. Cytoplasmic vesicle. Secretory vesicle membrane. Cell junction. Cytoplasm. Cytoskeleton.
Tissue specificity. Ubiquitous. Isoform 1 is the predominant isoform. Weak level of isoform 2 is present in all tested tissues, except in liver and heart where it is highly expressed.
Post-translational modifications. Phosphorylated. Partially dephosphorylated upon insulin stimulation.
Domain organisation. The PH 1 domain mediates the oligomerization in a calcium dependent manner. The PDZ domain binds to the last three or four amino acids of ion channels and receptor proteins. The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to the membrane. The SU domain binds calmodulin in a calcium-dependent manner.
Miscellaneous. Lacks domains required for interaction with dystrophin related proteins. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the syntrophin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q13425-1 | 1, Beta2-syntrophin58 | yes |
| Q13425-2 | 2, Beta2-syntrophin28 |
RefSeq proteins (1): NP_006741* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001478 | PDZ | Domain |
| IPR001849 | PH_domain | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR015482 | Syntrophin | Family |
| IPR036034 | PDZ_sf | Homologous_superfamily |
| IPR041428 | PHsplit_syntrophin | Domain |
| IPR055108 | Syntrophin_4th | Domain |
Pfam: PF00169, PF00595, PF18012, PF23012
UniProt features (32 total): modified residue 8, strand 5, domain 4, compositionally biased region 4, helix 3, region of interest 3, splice variant 2, sequence variant 2, chain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2VRF | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13425-F1 | 80.41 | 0.54 |
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 (8): 95, 110, 129, 211, 222, 233, 393, 395
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-9913351 | Formation of the dystrophin-glycoprotein complex (DGC) |
| R-HSA-1474244 | Extracellular matrix organization |
| R-HSA-3000171 | Non-integrin membrane-ECM interactions |
MSigDB gene sets: 276 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, chr16q22, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GCANCTGNY_MYOD_Q6, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GGGCATT_MIR365, MARTINEZ_RB1_TARGETS_DN, AML_Q6, BRN2_01, IRF1_Q6, AACTTT_UNKNOWN, GOMF_ACTIN_BINDING, VERNELL_RETINOBLASTOMA_PATHWAY_UP, SARTIPY_BLUNTED_BY_INSULIN_RESISTANCE_UP
GO Biological Process (0):
GO Molecular Function (5): RNA binding (GO:0003723), actin binding (GO:0003779), structural molecule activity (GO:0005198), calmodulin binding (GO:0005516), protein binding (GO:0005515)
GO Cellular Component (18): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829), microtubule (GO:0005874), plasma membrane (GO:0005886), focal adhesion (GO:0005925), dystrophin-associated glycoprotein complex (GO:0016010), membrane (GO:0016020), transport vesicle membrane (GO:0030658), protein-containing complex (GO:0032991), centriolar satellite (GO:0034451), ciliary transition zone (GO:0035869), ciliary basal body (GO:0036064), synapse (GO:0045202), cytoskeleton (GO:0005856), cytoplasmic vesicle (GO:0031410), anchoring junction (GO:0070161)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Non-integrin membrane-ECM interactions | 1 |
| Extracellular matrix organization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 6 |
| cytoplasm | 3 |
| cilium | 2 |
| cell junction | 2 |
| nucleic acid binding | 1 |
| cytoskeletal protein binding | 1 |
| molecular_function | 1 |
| protein binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell-substrate junction | 1 |
| glycoprotein complex | 1 |
| plasma membrane protein complex | 1 |
| transport vesicle | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| cellular_component | 1 |
| centrosome | 1 |
| microtubule organizing center | 1 |
| intracellular membraneless organelle | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
958 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SNTB2 | UTRN | P46939 | 928 |
| SNTB2 | DTNA | Q9Y4J8 | 904 |
| SNTB2 | DMD | P11532 | 868 |
| SNTB2 | UTP4 | Q969X6 | 825 |
| SNTB2 | MAST2 | Q6P0Q8 | 798 |
| SNTB2 | DTNB | O60941 | 745 |
| SNTB2 | TIAM1 | Q13009 | 708 |
| SNTB2 | DAG1 | Q14118 | 702 |
| SNTB2 | PARP10 | Q53GL7 | 684 |
| SNTB2 | CNTN1 | Q12860 | 680 |
| SNTB2 | MAST1 | Q9Y2H9 | 671 |
| SNTB2 | ABCA1 | O95477 | 669 |
| SNTB2 | MAST3 | O60307 | 640 |
| SNTB2 | SDCBP | O00560 | 564 |
| SNTB2 | MAST4 | O15021 | 557 |
IntAct
185 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DTNB | DMD | psi-mi:“MI:0914”(association) | 0.890 |
| DMD | DTNB | psi-mi:“MI:0914”(association) | 0.890 |
| SNTB2 | ADRA1D | psi-mi:“MI:0407”(direct interaction) | 0.840 |
| SGF29 | NDC80 | psi-mi:“MI:0914”(association) | 0.840 |
| LIN7A | CASK | psi-mi:“MI:0914”(association) | 0.830 |
| SCRIB | ADRA1D | psi-mi:“MI:0914”(association) | 0.820 |
| ADRA1D | UTRN | psi-mi:“MI:0914”(association) | 0.770 |
| ADRA1D | UTRN | psi-mi:“MI:0915”(physical association) | 0.770 |
| SNTB2 | DMD | psi-mi:“MI:0915”(physical association) | 0.740 |
| HMG20A | KDM1A | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| RHPN1 | PODXL | psi-mi:“MI:0914”(association) | 0.690 |
| CASK | SNTB2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SNTB2 | CASK | psi-mi:“MI:0915”(physical association) | 0.670 |
| UTRN | SNTB2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SNTB2 | CASK | psi-mi:“MI:0914”(association) | 0.670 |
| CFAP36 | SNTB2 | psi-mi:“MI:0914”(association) | 0.620 |
| CFAP36 | SNTB2 | psi-mi:“MI:0915”(physical association) | 0.620 |
| ADRA1D | LIN7A | psi-mi:“MI:0914”(association) | 0.590 |
| SLC16A3 | CASK | psi-mi:“MI:0914”(association) | 0.590 |
| ARHGEF16 | SNTB2 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| TNS2 | YWHAB | psi-mi:“MI:2364”(proximity) | 0.570 |
| SAV1 | SEC16A | psi-mi:“MI:2364”(proximity) | 0.570 |
| E6 | SNTB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (211): SNTB2 (Affinity Capture-MS), SNTB2 (Affinity Capture-MS), SNTB2 (Affinity Capture-MS), SNTB2 (Affinity Capture-MS), SNTB2 (Affinity Capture-MS), SNTB2 (Reconstituted Complex), SNTB2 (Affinity Capture-MS), SNTB2 (Affinity Capture-MS), SNTB2 (Affinity Capture-MS), SNTB2 (Affinity Capture-MS), SNTB2 (Affinity Capture-MS), SNTB2 (Affinity Capture-MS), SNTB2 (Two-hybrid), SNTB2 (Affinity Capture-MS), SNTB2 (Affinity Capture-MS)
ESM2 similar proteins: A2AAJ9, A2ABU4, A2RUH7, B4GBH0, D3ZGQ5, O09127, O70468, O75038, O88599, O95382, P16419, P21709, P22455, P22607, P29322, P54760, P54761, P55144, P55146, P56741, P70218, P70402, Q00653, Q06418, Q13203, Q13308, Q13425, Q14896, Q15746, Q290N5, Q32P44, Q4LDD4, Q5FW53, Q5PQM4, Q5VST9, Q5VTT5, Q60750, Q61851, Q68LP1, Q80UW5
Diamond homologs: A0A8C0TYJ0, A0A8P0N4K0, B4F7E7, D3ZAA9, E2QY99, E2QYC9, E7FDW2, F1MAD2, G5ECY0, O14910, O15018, O55164, O75970, O84033, O88382, O88951, O88952, P15454, P31006, P31007, P31016, P46195, P57105, P68907, P70175, P78352, P93757, Q0P5F3, Q0SS73, Q0TPK6, Q12959, Q13425, Q13884, Q14160, Q15700, Q16774, Q24210, Q255A8, Q28C55, Q2KIB6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SNTB2 | “form complex” | DGC | binding |
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 |
|---|---|---|---|
| Signaling by Hippo | 5 | 23.9× | 4e-04 |
| Formation of the dystrophin-glycoprotein complex (DGC) | 7 | 18.9× | 5e-05 |
| Oncogenic MAPK signaling | 6 | 13.1× | 8e-04 |
| Signaling by BRAF and RAF1 fusions | 6 | 9.0× | 3e-03 |
| Constitutive Signaling by Aberrant PI3K in Cancer | 8 | 8.9× | 5e-04 |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 9 | 7.6× | 5e-04 |
| RAF/MAP kinase cascade | 12 | 6.4× | 1e-04 |
| PIP3 activates AKT signaling | 10 | 5.9× | 9e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cell migration | 14 | 5.7× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
78 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 66 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1991 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:69187731:G:GT | donor_gain | 1.0000 |
| 16:69187745:GG:G | donor_gain | 1.0000 |
| 16:69187746:GG:G | donor_gain | 1.0000 |
| 16:69245593:T:TA | acceptor_gain | 1.0000 |
| 16:69245598:A:AG | acceptor_gain | 1.0000 |
| 16:69245598:ATAGT:A | acceptor_loss | 1.0000 |
| 16:69245599:T:G | acceptor_gain | 1.0000 |
| 16:69245600:A:AG | acceptor_gain | 1.0000 |
| 16:69245600:A:C | acceptor_loss | 1.0000 |
| 16:69245601:G:GA | acceptor_gain | 1.0000 |
| 16:69245601:GT:G | acceptor_gain | 1.0000 |
| 16:69245601:GTC:G | acceptor_gain | 1.0000 |
| 16:69245601:GTCA:G | acceptor_gain | 1.0000 |
| 16:69245601:GTCAA:G | acceptor_gain | 1.0000 |
| 16:69245750:G:GT | donor_gain | 1.0000 |
| 16:69270133:A:AG | acceptor_gain | 1.0000 |
| 16:69270134:T:G | acceptor_gain | 1.0000 |
| 16:69270138:A:AG | acceptor_gain | 1.0000 |
| 16:69270138:AACAG:A | acceptor_gain | 1.0000 |
| 16:69270139:A:G | acceptor_gain | 1.0000 |
| 16:69270140:CA:C | acceptor_loss | 1.0000 |
| 16:69270141:A:AC | acceptor_loss | 1.0000 |
| 16:69270141:A:AG | acceptor_gain | 1.0000 |
| 16:69270142:G:GA | acceptor_loss | 1.0000 |
| 16:69270142:G:GG | acceptor_gain | 1.0000 |
| 16:69270142:GGCAA:G | acceptor_gain | 1.0000 |
| 16:69270286:G:GA | donor_loss | 1.0000 |
| 16:69270286:G:GG | donor_gain | 1.0000 |
| 16:69284232:G:GT | donor_gain | 1.0000 |
| 16:69299585:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
3472 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:69187272:T:A | W36R | 1.000 |
| 16:69187272:T:C | W36R | 1.000 |
| 16:69187526:G:C | K120N | 1.000 |
| 16:69187526:G:T | K120N | 1.000 |
| 16:69187543:T:A | L126Q | 1.000 |
| 16:69187545:G:C | G127R | 1.000 |
| 16:69187545:G:T | G127C | 1.000 |
| 16:69187546:G:A | G127D | 1.000 |
| 16:69187546:G:T | G127V | 1.000 |
| 16:69187549:T:A | I128N | 1.000 |
| 16:69187549:T:C | I128T | 1.000 |
| 16:69187549:T:G | I128S | 1.000 |
| 16:69187551:A:C | S129R | 1.000 |
| 16:69187552:G:A | S129N | 1.000 |
| 16:69187553:C:A | S129R | 1.000 |
| 16:69187553:C:G | S129R | 1.000 |
| 16:69187555:T:A | I130N | 1.000 |
| 16:69187555:T:C | I130T | 1.000 |
| 16:69187555:T:G | I130S | 1.000 |
| 16:69187559:G:C | K131N | 1.000 |
| 16:69187559:G:T | K131N | 1.000 |
| 16:69187560:G:A | G132S | 1.000 |
| 16:69187560:G:C | G132R | 1.000 |
| 16:69187560:G:T | G132C | 1.000 |
| 16:69187561:G:A | G132D | 1.000 |
| 16:69187561:G:T | G132V | 1.000 |
| 16:69187585:T:A | I140N | 1.000 |
| 16:69187588:T:C | L141P | 1.000 |
| 16:69187591:T:A | I142N | 1.000 |
| 16:69187591:T:C | I142T | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000054113 (16:69258706 G>A), RS1000065342 (16:69242890 G>A), RS1000123001 (16:69200849 ACT>A), RS1000128831 (16:69281993 C>A), RS1000134755 (16:69263668 T>C), RS1000145315 (16:69190685 G>A), RS1000185802 (16:69193903 G>C,T), RS1000189970 (16:69239477 T>G), RS1000248744 (16:69186719 T>G), RS1000294963 (16:69200925 G>A), RS1000322017 (16:69297955 A>T), RS1000348373 (16:69256579 T>A,G), RS1000353846 (16:69291142 C>G,T), RS1000391005 (16:69250576 A>G), RS1000424931 (16:69269350 C>G)
Disease associations
OMIM: gene MIM:600027 | 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 |
|---|---|---|
| GCST005951_13 | Body mass index | 5.000000e-11 |
| GCST007006_16 | Logical memory (delayed recall) in normal cognition | 7.000000e-07 |
| GCST010703_183 | Brain morphology (MOSTest) | 5.000000e-11 |
| GCST90013421_17 | Left-handedness | 4.000000e-08 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0004874 | memory performance |
| EFO:0004346 | neuroimaging measurement |
| EFO:0009902 | handedness |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 4 |
| cobaltous chloride | decreases expression, increases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Aflatoxin B1 | decreases expression, decreases methylation | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| JP8 aviation fuel | affects expression | 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 |
| bisphenol B | increases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | increases expression | 1 |
| Dexamethasone | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Vitamin E | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.