TBC1D22A
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Summary
TBC1D22A (TBC1 domain family member 22A, HGNC:1309) is a protein-coding gene on chromosome 22q13.31, encoding TBC1 domain family member 22A (Q8WUA7). May act as a GTPase-activating protein for Rab family protein(s).
Enables 14-3-3 protein binding activity and protein homodimerization activity. Predicted to be active in Golgi apparatus.
Source: NCBI Gene 25771 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 95 total
- MANE Select transcript:
NM_014346
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1309 |
| Approved symbol | TBC1D22A |
| Name | TBC1 domain family member 22A |
| Location | 22q13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000054611 |
| Ensembl biotype | protein_coding |
| OMIM | 616879 |
| Entrez | 25771 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 13 protein_coding, 3 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined
ENST00000337137, ENST00000355704, ENST00000380995, ENST00000394449, ENST00000406733, ENST00000407381, ENST00000441162, ENST00000441936, ENST00000472791, ENST00000486163, ENST00000496139, ENST00000859789, ENST00000859790, ENST00000859791, ENST00000859792, ENST00000859793, ENST00000859794, ENST00000918112, ENST00000954015
RefSeq mRNA: 5 — MANE Select: NM_014346
NM_001284303, NM_001284304, NM_001284305, NM_001410803, NM_014346
CCDS: CCDS14078, CCDS63511, CCDS63512, CCDS74877, CCDS93180
Canonical transcript exons
ENST00000337137 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001145586 | 46878653 | 46878723 |
| ENSE00001145595 | 46797444 | 46797620 |
| ENSE00001916547 | 46762650 | 46762848 |
| ENSE00001936582 | 47173498 | 47175693 |
| ENSE00003472449 | 46894784 | 46894846 |
| ENSE00003480642 | 47111508 | 47111603 |
| ENSE00003505512 | 46997634 | 46997709 |
| ENSE00003538733 | 46792520 | 46792576 |
| ENSE00003560068 | 46793501 | 46793841 |
| ENSE00003581676 | 46891266 | 46891394 |
| ENSE00003586677 | 46912074 | 46912188 |
| ENSE00003616709 | 46974290 | 46974399 |
| ENSE00003628731 | 47037071 | 47037198 |
Expression profiles
Bgee: expression breadth ubiquitous, 276 present calls, max score 96.66.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.1142 / max 308.3397, expressed in 1822 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 192835 | 30.5622 | 1820 |
| 192836 | 0.7802 | 489 |
| 192837 | 0.6783 | 243 |
| 192839 | 0.5159 | 249 |
| 192840 | 0.4397 | 229 |
| 209514 | 0.1377 | 32 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 96.66 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 92.44 | gold quality |
| amniotic fluid | UBERON:0000173 | 92.07 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 90.88 | gold quality |
| gingival epithelium | UBERON:0001949 | 90.73 | gold quality |
| granulocyte | CL:0000094 | 90.70 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 90.33 | gold quality |
| ileal mucosa | UBERON:0000331 | 90.21 | gold quality |
| squamous epithelium | UBERON:0006914 | 90.01 | gold quality |
| blood | UBERON:0000178 | 89.87 | gold quality |
| monocyte | CL:0000576 | 89.80 | gold quality |
| leukocyte | CL:0000738 | 89.71 | gold quality |
| mononuclear cell | CL:0000842 | 89.66 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.04 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 89.03 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 88.93 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 88.69 | gold quality |
| sural nerve | UBERON:0015488 | 88.53 | gold quality |
| gingiva | UBERON:0001828 | 88.26 | gold quality |
| endothelial cell | CL:0000115 | 88.21 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 87.67 | gold quality |
| tonsil | UBERON:0002372 | 87.25 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 87.22 | gold quality |
| tibialis anterior | UBERON:0001385 | 87.08 | gold quality |
| esophagus mucosa | UBERON:0002469 | 86.80 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 86.68 | gold quality |
| gastrocnemius | UBERON:0001388 | 86.67 | gold quality |
| hair follicle | UBERON:0002073 | 86.61 | silver quality |
| spleen | UBERON:0002106 | 86.46 | gold quality |
| skin of leg | UBERON:0001511 | 86.36 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 29.82 |
| E-HCAD-25 | yes | 14.54 |
| E-CURD-119 | yes | 6.49 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| ACBD3 | Unknown |
miRNA regulators (miRDB)
56 targeting TBC1D22A, 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-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-3618 | 99.69 | 68.57 | 1012 |
| HSA-MIR-1290 | 99.59 | 69.90 | 2079 |
| HSA-MIR-2113 | 99.58 | 71.22 | 1521 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-4761-5P | 99.51 | 66.69 | 804 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-1324 | 99.46 | 66.57 | 1302 |
| HSA-MIR-4318 | 99.38 | 66.94 | 1505 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-499A-3P | 99.18 | 69.20 | 1392 |
| HSA-MIR-499B-3P | 99.18 | 69.27 | 1391 |
| HSA-MIR-6809-5P | 99.13 | 68.45 | 1223 |
Literature-anchored findings (GeneRIF, showing 3)
- crystal structures of the first two mammalian TBCs, human TBC1 family members 22A (TBC1D22A) and 14 (TBC1D14) (PMID:18186464)
- genetic association studies in population in Han Chinese: Data suggest that SNPs in TBC1D22A (rs7755450 and rs11758293) are associated with body mass index in obese females; other SNPs in TBC1D22A are associated with body mass index in obese males. (PMID:23526746)
- Using affinity purification-mass spectrometry, we identified the putative Rab33 GTPase-activating proteins TBC1D22A and TBC1D22B as ACBD3-interacting factors. (PMID:23572552)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tbc1d22a | ENSDARG00000045510 |
| mus_musculus | Tbc1d22a | ENSMUSG00000051864 |
| rattus_norvegicus | Tbc1d22a | ENSRNOG00000017057 |
Paralogs (45): RABGAP1 (ENSG00000011454), 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), TBC1D10B (ENSG00000169221), 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 22A — Q8WUA7 (reviewed: Q8WUA7)
All UniProt accessions (5): A0A0A0MRY0, B0QYI1, Q8WUA7, F8WBF7, F8WDP1
UniProt curated annotations — full annotation on UniProt →
Function. May act as a GTPase-activating protein for Rab family protein(s).
Subunit / interactions. Homodimer. Interacts with ACBD3 and ARFGEF1. Interacts with YWHAB, YWHAE, YWHAG, YWHAH, YWHAQ and YWHAZ.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8WUA7-1 | 1 | yes |
| Q8WUA7-2 | 2 | |
| Q8WUA7-3 | 3 | |
| Q8WUA7-4 | 4 |
RefSeq proteins (5): NP_001271232, NP_001271233, NP_001271234, NP_001397732, NP_055161* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000195 | Rab-GAP-TBC_dom | Domain |
| IPR035969 | Rab-GAP_TBC_sf | Homologous_superfamily |
Pfam: PF00566
UniProt features (58 total): helix 22, mutagenesis site 15, splice variant 5, modified residue 4, sequence conflict 3, turn 3, compositionally biased region 2, initiator methionine 1, chain 1, domain 1, region of interest 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2QFZ | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WUA7-F1 | 77.51 | 0.61 |
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 (4): 2, 132, 145, 167
Mutagenesis-validated functional residues (15):
| Position | Phenotype |
|---|---|
| 90–92 | no effect on acbd3-binding. |
| 92–93 | no effect on interaction with acbd3, nor with 14-3-3 proteins. |
| 93–96 | decreased acbd3-binding. |
| 96–97 | no effect on acbd3-binding. |
| 99–100 | no effect on acbd3-binding. |
| 101–102 | drastically decreased acbd3-binding. no effect on binding to 14-3-3 protein. |
| 103–105 | no effect on acbd3-binding. |
| 132 | no effect on 14-3-3 protein-binding. |
| 149–150 | decreased 14-3-3 protein-binding. |
| 165–167 | complete loss of 14-3-3 protein-binding. |
| 165 | no effect on interaction with acbd3. decreased 14-3-3 protein-binding. |
| 165 | complete loss of 14-3-3 protein-binding. |
| 167 | complete loss of 14-3-3 protein-binding. |
| 320 | decreased 14-3-3 protein-binding. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 182 (showing top):
RRAGTTGT_UNKNOWN, MORF_FLT1, PAX4_01, MORF_MSH3, LFA1_Q6, MORF_BRCA1, MORF_ATRX, TGACCTY_ERR1_Q2, MORF_ESR1, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, RICKMAN_METASTASIS_DN, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CILIUM_ORGANIZATION, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, GOBP_ORGANELLE_ASSEMBLY
GO Biological Process (0):
GO Molecular Function (4): GTPase activator activity (GO:0005096), protein homodimerization activity (GO:0042803), 14-3-3 protein binding (GO:0071889), protein binding (GO:0005515)
GO Cellular Component (1): Golgi apparatus (GO:0005794)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| GTPase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| protein binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1633 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TBC1D22A | GRTP1 | Q5TC63 | 588 |
| TBC1D22A | TBC1D20 | Q96BZ9 | 586 |
| TBC1D22A | TRABD | Q9H4I3 | 549 |
| TBC1D22A | TBC1D21 | Q8IYX1 | 542 |
| TBC1D22A | TBC1D8B | Q0IIM8 | 539 |
| TBC1D22A | TBC1D19 | Q8N5T2 | 522 |
| TBC1D22A | MON2 | Q7Z3U7 | 503 |
| TBC1D22A | RBM12B | Q8IXT5 | 491 |
| TBC1D22A | MOSPD3 | O75425 | 485 |
| TBC1D22A | TBC1D10C | Q8IV04 | 482 |
| TBC1D22A | TBC1D8 | O95759 | 464 |
| TBC1D22A | SLC38A10 | Q9HBR0 | 461 |
| TBC1D22A | TBC1D9B | Q66K14 | 457 |
| TBC1D22A | PI4KB | P78405 | 454 |
| TBC1D22A | ZNF516 | Q92618 | 449 |
IntAct
31 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ACBD3 | TBC1D22A | psi-mi:“MI:0915”(physical association) | 0.720 |
| TBC1D22A | ACBD3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| YWHAB | BLTP3B | psi-mi:“MI:0914”(association) | 0.610 |
| ACBD3 | PI4KB | psi-mi:“MI:0914”(association) | 0.570 |
| TBC1D22B | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| DNAJB8 | DNAJB6 | psi-mi:“MI:0914”(association) | 0.530 |
| TBC1D22A | psi-mi:“MI:0914”(association) | 0.460 | |
| TBC1D22A | STT3B | psi-mi:“MI:0915”(physical association) | 0.400 |
| CERK | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| ACBD3 | PIP4P1 | psi-mi:“MI:0914”(association) | 0.350 |
| ACBD3 | BCKDHB | psi-mi:“MI:0914”(association) | 0.350 |
| TBC1D22A | VPS26A | psi-mi:“MI:0914”(association) | 0.350 |
| TBC1D22A | psi-mi:“MI:0914”(association) | 0.350 | |
| TACSTD2 | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
| TBC1D22A | ACSL4 | psi-mi:“MI:0914”(association) | 0.350 |
| TBC1D22A | CTSV | psi-mi:“MI:0914”(association) | 0.350 |
| AURKB | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| CD33 | SPAG9 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC4C | ENTPD6 | psi-mi:“MI:0914”(association) | 0.350 |
| CREB3L2 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| EPHA1 | ENC1 | psi-mi:“MI:0914”(association) | 0.350 |
| RIC3 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| SCN2B | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
| TGOLN2 | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
| TBC1D22A | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (69): HSPA1L (Affinity Capture-MS), ACBD3 (Affinity Capture-MS), FDXR (Affinity Capture-MS), ACSL4 (Affinity Capture-MS), FLYWCH2 (Affinity Capture-MS), BIRC6 (Affinity Capture-MS), ARFGEF1 (Affinity Capture-MS), QSOX2 (Affinity Capture-MS), MICU1 (Affinity Capture-MS), KIRREL (Affinity Capture-MS), MICU2 (Affinity Capture-MS), DNAJB4 (Affinity Capture-MS), SUPT6H (Affinity Capture-MS), EFNB3 (Affinity Capture-MS), EPHA4 (Affinity Capture-MS)
ESM2 similar proteins: A0FI79, A1A4I4, A1A5B6, A4D2P6, A6H7I8, F1LXF1, O60346, P11274, P53349, P59672, P70268, Q0QWG9, Q13905, Q3MII6, Q3U0J8, Q504T8, Q50H33, Q5EBH1, Q62865, Q63433, Q69ZT9, Q6NS60, Q6PAJ1, Q6WVG3, Q6ZWB6, Q7Z5H3, Q8BL80, Q8BUP8, Q8BYH7, Q8C190, Q8CGA2, Q8CHE4, Q8N2R8, Q8R554, Q8TE49, Q8TF61, Q8WUA7, Q92625, Q95KI1, Q96CX2
Diamond homologs: O59737, Q08484, Q8R5A6, Q8WUA7, Q95KI1, Q95LL3, Q9NU19, Q54VM3, Q8R3D1, Q9NVG8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
95 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 71 |
| Likely benign | 6 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
7544 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:46792577:G:GG | donor_gain | 1.0000 |
| 22:46793499:A:AG | acceptor_gain | 1.0000 |
| 22:46793499:AGTTT:A | acceptor_gain | 1.0000 |
| 22:46793500:G:GT | acceptor_gain | 1.0000 |
| 22:46793500:GT:G | acceptor_gain | 1.0000 |
| 22:46793500:GTT:G | acceptor_gain | 1.0000 |
| 22:46793500:GTTT:G | acceptor_gain | 1.0000 |
| 22:46793500:GTTTG:G | acceptor_gain | 1.0000 |
| 22:46793839:CAGG:C | donor_loss | 1.0000 |
| 22:46793840:AGGT:A | donor_loss | 1.0000 |
| 22:46793841:GGTA:G | donor_loss | 1.0000 |
| 22:46793842:G:GC | donor_loss | 1.0000 |
| 22:46793843:T:A | donor_loss | 1.0000 |
| 22:46797618:TTGGT:T | donor_loss | 1.0000 |
| 22:46797621:G:GC | donor_loss | 1.0000 |
| 22:46797621:G:GG | donor_gain | 1.0000 |
| 22:46797622:T:A | donor_loss | 1.0000 |
| 22:46878651:A:AG | acceptor_gain | 1.0000 |
| 22:46878652:G:GG | acceptor_gain | 1.0000 |
| 22:46878724:G:GG | donor_gain | 1.0000 |
| 22:46891392:CAG:C | donor_loss | 1.0000 |
| 22:46891395:GTG:G | donor_loss | 1.0000 |
| 22:46912072:A:AG | acceptor_gain | 1.0000 |
| 22:46912072:AG:A | acceptor_loss | 1.0000 |
| 22:46912073:G:GA | acceptor_gain | 1.0000 |
| 22:46912073:GA:G | acceptor_gain | 1.0000 |
| 22:46912073:GAT:G | acceptor_gain | 1.0000 |
| 22:46912073:GATT:G | acceptor_gain | 1.0000 |
| 22:46912185:ATAGG:A | donor_loss | 1.0000 |
| 22:46912187:AGGT:A | donor_loss | 1.0000 |
AlphaMissense
3437 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:46912134:G:C | G321R | 1.000 |
| 22:47037124:T:C | F419L | 1.000 |
| 22:47037126:C:A | F419L | 1.000 |
| 22:47037126:C:G | F419L | 1.000 |
| 22:47037130:T:A | W421R | 1.000 |
| 22:47037130:T:C | W421R | 1.000 |
| 22:47037152:G:T | R428M | 1.000 |
| 22:46878709:T:A | W232R | 0.999 |
| 22:46878709:T:C | W232R | 0.999 |
| 22:46891326:T:G | Y257D | 0.999 |
| 22:46894795:C:A | D283E | 0.999 |
| 22:46894795:C:G | D283E | 0.999 |
| 22:46912101:G:C | A310P | 0.999 |
| 22:46912108:G:C | R312P | 0.999 |
| 22:46912110:C:G | H313D | 0.999 |
| 22:46912125:T:C | Y318H | 0.999 |
| 22:46912129:T:A | V319D | 0.999 |
| 22:46912133:G:C | Q320H | 0.999 |
| 22:46912133:G:T | Q320H | 0.999 |
| 22:46912134:G:T | G321C | 0.999 |
| 22:46912142:T:A | N323K | 0.999 |
| 22:46912142:T:G | N323K | 0.999 |
| 22:47037118:T:C | F417L | 0.999 |
| 22:47037120:T:A | F417L | 0.999 |
| 22:47037120:T:G | F417L | 0.999 |
| 22:47037125:T:C | F419S | 0.999 |
| 22:47037125:T:G | F419C | 0.999 |
| 22:47037138:C:A | N423K | 0.999 |
| 22:47037138:C:G | N423K | 0.999 |
| 22:47037141:C:A | N424K | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000000544 (22:47163450 C>T), RS1000003756 (22:47041266 C>G,T), RS1000009391 (22:47157717 G>GCACA), RS1000030084 (22:46838524 A>G,T), RS1000033260 (22:47041405 T>A), RS1000041121 (22:47098556 T>A), RS1000048133 (22:46867960 A>G), RS1000048546 (22:46971635 G>C,T), RS1000050421 (22:46985512 T>C), RS1000051865 (22:46944396 C>T), RS1000055459 (22:47110736 G>A), RS1000055636 (22:46843487 G>A,C), RS1000073319 (22:46797557 G>A), RS1000078023 (22:46761527 G>T), RS1000081674 (22:47149945 G>A)
Disease associations
OMIM: gene MIM:616879 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000785_25 | Longevity | 1.000000e-06 |
| GCST001585_4 | Breast size | 7.000000e-06 |
| GCST003478_4 | Hair greying | 5.000000e-06 |
| GCST004351_28 | Bone ultrasound measurement (broadband ultrasound attenuation) | 2.000000e-07 |
| GCST009086_4 | Pneumococcal meningitis | 6.000000e-07 |
| GCST009391_1684 | Metabolite levels | 4.000000e-06 |
| GCST90093325_20 | Language functional connectivity | 3.000000e-12 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004514 | bone quantitative ultrasound measurement |
| EFO:0010343 | cholesteryl ester 18:0 measurement |
| EFO:0007797 | language measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 7 |
| Aflatoxin B1 | decreases expression, decreases methylation, increases methylation, affects expression | 4 |
| bisphenol A | decreases expression, decreases methylation, affects cotreatment, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| zinc chromate | increases abundance, decreases expression | 1 |
| benzo(e)pyrene | affects methylation | 1 |
| aflatoxin B2 | affects methylation | 1 |
| coumarin | decreases phosphorylation | 1 |
| 1-hydroxypyrene | affects cotreatment, decreases methylation | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Carcinogens | decreases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Doxorubicin | affects expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methapyrilene | affects methylation | 1 |
| Mutagens | decreases expression | 1 |
| Ozone | increases abundance, 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): pneumococcal meningitis