TBC1D10B
gene geneOn this page
Also known as DKFZP434P1750Rab27A-GAPbetaFLJ13130EPI64B
Summary
TBC1D10B (TBC1 domain family member 10B, HGNC:24510) is a protein-coding gene on chromosome 16p11.2, encoding TBC1 domain family member 10B (Q4KMP7). Acts as a GTPase-activating protein for RAB3A, RAB22A, RAB27A, and RAB35.
Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase-activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family (Ishibashi et al., 2009 [PubMed 19077034]).
Source: NCBI Gene 26000 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 56 total
- MANE Select transcript:
NM_015527
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24510 |
| Approved symbol | TBC1D10B |
| Name | TBC1 domain family member 10B |
| Location | 16p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B |
| Ensembl gene | ENSG00000169221 |
| Ensembl biotype | protein_coding |
| OMIM | 613620 |
| Entrez | 26000 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 6 protein_coding, 5 retained_intron
ENST00000409939, ENST00000464644, ENST00000475650, ENST00000475872, ENST00000478158, ENST00000490703, ENST00000566671, ENST00000936813, ENST00000936814, ENST00000955945, ENST00000955946
RefSeq mRNA: 1 — MANE Select: NM_015527
NM_015527
CCDS: CCDS10676
Canonical transcript exons
ENST00000409939 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001139893 | 30365495 | 30365594 |
| ENSE00001958615 | 30369228 | 30370494 |
| ENSE00003533965 | 30359538 | 30359603 |
| ENSE00003547418 | 30365105 | 30365212 |
| ENSE00003587908 | 30359172 | 30359361 |
| ENSE00003590953 | 30364900 | 30365006 |
| ENSE00003629676 | 30359727 | 30359841 |
| ENSE00003657394 | 30357102 | 30358573 |
| ENSE00003682454 | 30358663 | 30358817 |
Expression profiles
Bgee: expression breadth ubiquitous, 264 present calls, max score 93.52.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.0333 / max 356.9954, expressed in 1797 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 157040 | 14.0333 | 1797 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 93.52 | gold quality |
| right testis | UBERON:0004534 | 93.30 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.72 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 92.66 | gold quality |
| granulocyte | CL:0000094 | 91.84 | gold quality |
| apex of heart | UBERON:0002098 | 91.72 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 91.68 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 91.63 | gold quality |
| cerebellar cortex | UBERON:0002129 | 91.59 | gold quality |
| spinal cord | UBERON:0002240 | 91.55 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.33 | gold quality |
| sperm | CL:0000019 | 90.97 | gold quality |
| prefrontal cortex | UBERON:0000451 | 90.91 | gold quality |
| male germ cell | CL:0000015 | 90.81 | gold quality |
| cingulate cortex | UBERON:0003027 | 90.79 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 90.79 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.73 | gold quality |
| testis | UBERON:0000473 | 90.58 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 90.48 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 90.47 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 90.43 | gold quality |
| ileal mucosa | UBERON:0000331 | 90.36 | gold quality |
| cerebellum | UBERON:0002037 | 90.35 | gold quality |
| stromal cell of endometrium | CL:0002255 | 90.17 | gold quality |
| sural nerve | UBERON:0015488 | 90.11 | gold quality |
| ganglionic eminence | UBERON:0004023 | 90.03 | gold quality |
| right adrenal gland | UBERON:0001233 | 89.97 | gold quality |
| muscle of leg | UBERON:0001383 | 89.90 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 89.90 | gold quality |
| amygdala | UBERON:0001876 | 89.66 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
63 targeting TBC1D10B, 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-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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-23B-5P | 99.98 | 66.07 | 587 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-23A-5P | 99.94 | 65.39 | 468 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-1825 | 99.72 | 68.11 | 1089 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-4761-5P | 99.51 | 66.69 | 804 |
| HSA-MIR-657 | 99.48 | 66.02 | 848 |
| HSA-MIR-330-3P | 99.41 | 69.95 | 2521 |
| HSA-MIR-1912-3P | 99.32 | 67.40 | 936 |
| HSA-MIR-7515 | 99.31 | 68.22 | 1795 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-4651 | 99.06 | 67.57 | 2002 |
| HSA-MIR-1295B-5P | 99.03 | 67.50 | 810 |
| HSA-MIR-670-3P | 99.03 | 68.88 | 2404 |
Literature-anchored findings (GeneRIF, showing 5)
- Data suggest that EPI64A and B, which are ubiquitously expressed members of the EPI64 subfamily, inactivate Ras and certain Rabs at the periphery of cells. (PMID:23248241)
- Regulation of VEGFR2 trafficking and signaling by Rab GTPase-activating proteins. (PMID:31527750)
- STAT4-mediated down-regulation of miR-3619-5p facilitates stomach adenocarcinoma by modulating TBC1D10B. (PMID:32397798)
- The RabGAPs EPI64A and EPI64B regulate the apical structure of epithelial cells (dagger). (PMID:34757852)
- TBC1D10B promotes tumor progression in colon cancer via PAK4-mediated promotion of the PI3K/AKT/mTOR pathway. (PMID:38824479)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tbc1d10b | ENSDARG00000078604 |
| mus_musculus | Tbc1d10b | ENSMUSG00000042492 |
| rattus_norvegicus | Tbc1d10b | ENSRNOG00000017349 |
Paralogs (45): RABGAP1 (ENSG00000011454), TBC1D22A (ENSG00000054611), TBC1D22B (ENSG00000065491), TBC1D1 (ENSG00000065882), EVI5 (ENSG00000067208), TBC1D25 (ENSG00000068354), TBC1D2 (ENSG00000095383), TBC1D10A (ENSG00000099992), SGSM3 (ENSG00000100359), TBC1D17 (ENSG00000104946), TBC1D13 (ENSG00000107021), TBC1D12 (ENSG00000108239), TBC1D9 (ENSG00000109436), TBC1D30 (ENSG00000111490), TBC1D15 (ENSG00000121749), TBC1D5 (ENSG00000131374), TBC1D14 (ENSG00000132405), TBC1D8B (ENSG00000133138), TBC1D4 (ENSG00000136111), GRTP1 (ENSG00000139835), SGSM2 (ENSG00000141258), EVI5L (ENSG00000142459), TBCK (ENSG00000145348), USP6NL (ENSG00000148429), RABGAP1L (ENSG00000152061), SGSM1 (ENSG00000167037), TBC1D21 (ENSG00000167139), TBC1D2B (ENSG00000167202), TBC1D16 (ENSG00000167291), TBC1D10C (ENSG00000175463), TBC1D28 (ENSG00000189375), TBC1D9B (ENSG00000197226), TBC1D8 (ENSG00000204634), TBC1D26 (ENSG00000214946), TBC1D3G (ENSG00000260287), TBC1D3K (ENSG00000273513), TBC1D3H (ENSG00000274226), TBC1D3D (ENSG00000274419), TBC1D3L (ENSG00000274512), TBC1D3 (ENSG00000274611)
Protein
Protein identifiers
TBC1 domain family member 10B — Q4KMP7 (reviewed: Q4KMP7)
Alternative names: Rab27A-GAP-beta
All UniProt accessions (2): Q4KMP7, H3BSE1
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a GTPase-activating protein for RAB3A, RAB22A, RAB27A, and RAB35. Does not act on RAB2A and RAB6A.
Subcellular location. Cytoplasm. Cell membrane.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q4KMP7-1 | 1 | yes |
| Q4KMP7-2 | 2 |
RefSeq proteins (1): NP_056342* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000195 | Rab-GAP-TBC_dom | Domain |
| IPR035969 | Rab-GAP_TBC_sf | Homologous_superfamily |
| IPR050302 | Rab_GAP_TBC_domain | Family |
Pfam: PF00566
UniProt features (33 total): compositionally biased region 11, modified residue 8, sequence conflict 5, region of interest 4, chain 1, domain 1, splice variant 1, mutagenesis site 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q4KMP7-F1 | 69.94 | 0.45 |
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): 22, 141, 152, 186, 658, 661, 678, 687
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 409 | loss of gap activity. unable to exclude rab3a from the dense-core vesicles, when tested in a pheochromocytoma cell line. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-8854214 | TBC/RABGAPs |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-9007101 | Rab regulation of trafficking |
MSigDB gene sets: 154 (showing top):
GCM_MAP4K4, GCM_GSPT1, GOBP_REGULATION_OF_GTPASE_ACTIVITY, RACCACAR_AML_Q6, GOBP_VESICLE_MEDIATED_TRANSPORT, AP2_Q3, REACTOME_MEMBRANE_TRAFFICKING, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GCGCTTT_MIR518B_MIR518C_MIR518D, CEBPB_01, CATRRAGC_UNKNOWN, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, TGCTGAY_UNKNOWN, GOBP_CILIUM_ORGANIZATION
GO Biological Process (2): retrograde transport, endosome to Golgi (GO:0042147), regulation of GTPase activity (GO:0043087)
GO Molecular Function (2): GTPase activator activity (GO:0005096), protein binding (GO:0005515)
GO Cellular Component (4): cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasm (GO:0005737), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Rab regulation of trafficking | 1 |
| Vesicle-mediated transport | 1 |
| Membrane Trafficking | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| GTPase activity | 2 |
| intercellular transport | 1 |
| endosomal transport | 1 |
| cytosolic transport | 1 |
| regulation of hydrolase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
998 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TBC1D10B | RAB35 | Q15286 | 877 |
| TBC1D10B | RAB27A | P51159 | 851 |
| TBC1D10B | RAB22A | Q9UL26 | 823 |
| TBC1D10B | CDC16 | Q13042 | 774 |
| TBC1D10B | RAB6A | P20340 | 667 |
| TBC1D10B | RAB2A | P08886 | 666 |
| TBC1D10B | ARF6 | P26438 | 664 |
| TBC1D10B | EIF3K | Q9UBQ5 | 644 |
| TBC1D10B | RAB3A | P20336 | 643 |
| TBC1D10B | TBC1D22B | Q9NU19 | 607 |
| TBC1D10B | TBC1D13 | Q9NVG8 | 584 |
| TBC1D10B | NRDE2 | Q9H7Z3 | 571 |
| TBC1D10B | TBC1D19 | Q8N5T2 | 517 |
| TBC1D10B | TMUB2 | Q71RG4 | 511 |
| TBC1D10B | TBC1D21 | Q8IYX1 | 508 |
IntAct
45 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RIOK1 | PRMT5 | psi-mi:“MI:0914”(association) | 0.710 |
| TBC1D10B | CCDC70 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZYX | TBC1D10B | psi-mi:“MI:0914”(association) | 0.530 |
| GALNS | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| Tipin | NEMF | psi-mi:“MI:0914”(association) | 0.350 |
| Kif20b | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| SYNCRIP | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.350 |
| ORF73 | ECI2 | psi-mi:“MI:0914”(association) | 0.350 |
| RYBP | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-C | psi-mi:“MI:0914”(association) | 0.350 | |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| EAF1 | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| KCMF1 | CIT | psi-mi:“MI:0914”(association) | 0.350 |
| RNPS1 | WWP2 | psi-mi:“MI:0914”(association) | 0.350 |
| RPS19 | ZNF316 | psi-mi:“MI:0914”(association) | 0.350 |
| RRP7A | MAGEB2 | psi-mi:“MI:0914”(association) | 0.350 |
| UTP4 | POLR3A | psi-mi:“MI:0914”(association) | 0.350 |
| ZCCHC10 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF692 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| CDH1 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| CTDSPL | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| EPHA7 | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| EPHB2 | ARHGAP32 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FGFR1 | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
| NTRK1 | C1orf226 | psi-mi:“MI:2364”(proximity) | 0.270 |
| NTRK3 | C1orf226 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ROR2 | SH3PXD2B | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (120): TBC1D10B (Affinity Capture-MS), TBC1D10B (Affinity Capture-MS), TBC1D10B (Affinity Capture-MS), TBC1D10B (Affinity Capture-MS), TBC1D10B (Affinity Capture-MS), TBC1D10B (Affinity Capture-MS), TBC1D10B (Proximity Label-MS), TBC1D10B (Proximity Label-MS), TBC1D10B (Affinity Capture-MS), TBC1D10B (Affinity Capture-MS), TBC1D10B (Affinity Capture-MS), TBC1D10B (Affinity Capture-MS), TBC1D10B (Proximity Label-MS), TBC1D10B (Affinity Capture-MS), TBC1D10B (Affinity Capture-MS)
ESM2 similar proteins: A1L1I3, A5PKW4, O08919, O70405, O75385, O75420, O75553, P16554, P42128, P49757, P53814, P85037, P97318, P98081, Q04637, Q2LC84, Q3UCQ1, Q4KMP7, Q5DTT2, Q5I1X5, Q5RBR0, Q5VZ18, Q69ZH9, Q69ZI1, Q7TN02, Q7Z6J0, Q80VC9, Q80XI3, Q80Z38, Q86V15, Q8BGT6, Q8BHL3, Q8BSD5, Q8C120, Q8CI12, Q8IY33, Q8K4J6, Q8N3F8, Q8TEH3, Q8TEJ3
Diamond homologs: A0A087WVF3, A0A087WXS9, A0A087X179, A0A087X1G2, A2AWA9, A3KGB4, A6H6A9, A6NDS4, A6NER0, A6QP29, B0R0W9, B7ZAP0, B9A6J9, H2KZZ6, O60343, O60447, O95759, O97790, P0C7X1, P35125, P58802, P97366, Q0IIM8, Q10496, Q12317, Q12344, Q28CB1, Q3UYK3, Q4KMP7, Q5R372, Q5RAN1, Q5RCW6, Q5SVR0, Q5TC63, Q5ZJ17, Q60949, Q66K14, Q6DHY5, Q6IPX1, Q6ZT07
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 64 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 |
|---|---|---|---|
| SARS-CoV-1-host interactions | 6 | 22.4× | 4e-05 |
| SARS-CoV-1 Infection | 6 | 18.2× | 1e-04 |
| Apoptosis | 5 | 17.9× | 6e-04 |
| Programmed Cell Death | 5 | 15.6× | 9e-04 |
| mRNA Splicing | 6 | 14.0× | 3e-04 |
| SARS-CoV-2-host interactions | 5 | 12.7× | 1e-03 |
| Metabolism of RNA | 12 | 10.6× | 3e-07 |
| Processing of Capped Intron-Containing Pre-mRNA | 6 | 10.5× | 9e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal small subunit biogenesis | 5 | 20.3× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 52 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1432 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:30358569:GTCAC:G | acceptor_gain | 1.0000 |
| 16:30358570:TCAC:T | acceptor_gain | 1.0000 |
| 16:30358571:CAC:C | acceptor_gain | 1.0000 |
| 16:30358571:CACC:C | acceptor_gain | 1.0000 |
| 16:30358572:AC:A | acceptor_gain | 1.0000 |
| 16:30358573:CC:C | acceptor_gain | 1.0000 |
| 16:30358574:C:CC | acceptor_gain | 1.0000 |
| 16:30358575:T:C | acceptor_loss | 1.0000 |
| 16:30358577:C:CT | acceptor_gain | 1.0000 |
| 16:30358659:CTACC:C | donor_loss | 1.0000 |
| 16:30358660:TACCT:T | donor_loss | 1.0000 |
| 16:30358662:C:A | donor_loss | 1.0000 |
| 16:30358682:T:TA | donor_gain | 1.0000 |
| 16:30358813:AACGC:A | acceptor_gain | 1.0000 |
| 16:30358814:ACGC:A | acceptor_gain | 1.0000 |
| 16:30358815:CGC:C | acceptor_gain | 1.0000 |
| 16:30358815:CGCC:C | acceptor_gain | 1.0000 |
| 16:30358816:GC:G | acceptor_gain | 1.0000 |
| 16:30358817:CC:C | acceptor_gain | 1.0000 |
| 16:30358818:C:CC | acceptor_gain | 1.0000 |
| 16:30358818:CT:C | acceptor_loss | 1.0000 |
| 16:30358821:C:CT | acceptor_gain | 1.0000 |
| 16:30358822:A:T | acceptor_gain | 1.0000 |
| 16:30358826:G:C | acceptor_gain | 1.0000 |
| 16:30358826:G:GC | acceptor_gain | 1.0000 |
| 16:30359722:CTGA:C | donor_loss | 1.0000 |
| 16:30359723:TGACC:T | donor_loss | 1.0000 |
| 16:30359726:C:A | donor_loss | 1.0000 |
| 16:30359726:CCT:C | donor_gain | 1.0000 |
| 16:30359728:T:TA | donor_gain | 1.0000 |
AlphaMissense
5087 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:30358712:A:G | L583P | 1.000 |
| 16:30359172:C:G | G548R | 1.000 |
| 16:30359189:T:A | D542V | 1.000 |
| 16:30359189:T:G | D542A | 1.000 |
| 16:30359190:C:A | D542Y | 1.000 |
| 16:30359190:C:G | D542H | 1.000 |
| 16:30359193:A:G | W541R | 1.000 |
| 16:30359193:A:T | W541R | 1.000 |
| 16:30359214:A:G | W534R | 1.000 |
| 16:30359214:A:T | W534R | 1.000 |
| 16:30359219:A:G | L532P | 1.000 |
| 16:30359236:G:C | C526W | 1.000 |
| 16:30359237:C:T | C526Y | 1.000 |
| 16:30359238:A:G | C526R | 1.000 |
| 16:30359245:C:A | W523C | 1.000 |
| 16:30359245:C:G | W523C | 1.000 |
| 16:30359247:A:G | W523R | 1.000 |
| 16:30359247:A:T | W523R | 1.000 |
| 16:30359288:A:G | L509P | 1.000 |
| 16:30359321:A:G | L498P | 1.000 |
| 16:30359343:C:A | G491W | 1.000 |
| 16:30359343:C:G | G491R | 1.000 |
| 16:30359343:C:T | G491R | 1.000 |
| 16:30359345:T:A | D490V | 1.000 |
| 16:30359348:A:G | L489P | 1.000 |
| 16:30359354:A:T | I487N | 1.000 |
| 16:30359539:A:G | L484P | 1.000 |
| 16:30359563:A:G | L476P | 1.000 |
| 16:30359587:A:G | L468P | 1.000 |
| 16:30359595:A:C | F465L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000062567 (16:30364676 C>T), RS1000240179 (16:30370832 TAA>T), RS1000653113 (16:30369674 C>A,G), RS1000808286 (16:30362849 C>T), RS1000947587 (16:30366666 G>T), RS1001062444 (16:30366374 A>G), RS1001274748 (16:30372325 G>A), RS1001310302 (16:30371885 C>T), RS1001619879 (16:30370491 T>A,C), RS1001773677 (16:30369942 G>C,T), RS1001890416 (16:30356707 C>A,G), RS1002090171 (16:30357050 C>T), RS1002187004 (16:30367053 G>A,C), RS1002382708 (16:30363234 T>C), RS1002410126 (16:30360068 C>G)
Disease associations
OMIM: gene MIM:613620 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010703_269 | Brain morphology (MOSTest) | 4.000000e-13 |
| GCST010796_3833 | Electrocardiogram morphology (amplitude at temporal datapoints) | 9.000000e-09 |
| GCST010796_3834 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
| EFO:0004327 | electrocardiography |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| ICG 001 | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Aspirin | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Dactinomycin | increases secretion, affects cotreatment | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Quercetin | increases phosphorylation | 1 |
| Smoke | decreases expression | 1 |
| Sulindac | increases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Tretinoin | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 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.