TBC1D14
gene geneOn this page
Also known as KIAA1322
Summary
TBC1D14 (TBC1 domain family member 14, HGNC:29246) is a protein-coding gene on chromosome 4p16.1, encoding TBC1 domain family member 14 (Q9P2M4). Plays a role in the regulation of starvation-induced autophagosome formation.
Enables protein kinase binding activity. Involved in negative regulation of autophagy; recycling endosome to Golgi transport; and regulation of autophagosome assembly. Located in several cellular components, including Golgi apparatus; autophagosome; and recycling endosome.
Source: NCBI Gene 57533 — RefSeq curated summary.
At a glance
- GWAS associations: 19
- Clinical variants (ClinVar): 116 total
- MANE Select transcript:
NM_020773
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29246 |
| Approved symbol | TBC1D14 |
| Name | TBC1 domain family member 14 |
| Location | 4p16.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1322 |
| Ensembl gene | ENSG00000132405 |
| Ensembl biotype | protein_coding |
| OMIM | 614855 |
| Entrez | 57533 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 21 protein_coding, 1 retained_intron
ENST00000409757, ENST00000410031, ENST00000427736, ENST00000439515, ENST00000444368, ENST00000446947, ENST00000448507, ENST00000451522, ENST00000467966, ENST00000854331, ENST00000854332, ENST00000854333, ENST00000854334, ENST00000854335, ENST00000854336, ENST00000913760, ENST00000953322, ENST00000953323, ENST00000953324, ENST00000953325, ENST00000953326, ENST00000953327
RefSeq mRNA: 5 — MANE Select: NM_020773
NM_001113361, NM_001113363, NM_001286805, NM_001330638, NM_020773
CCDS: CCDS3394, CCDS47006, CCDS75104, CCDS82909
Canonical transcript exons
ENST00000409757 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001080285 | 7006632 | 7006726 |
| ENSE00001080288 | 7014448 | 7014557 |
| ENSE00001080289 | 7004844 | 7004924 |
| ENSE00001080292 | 7010653 | 7010781 |
| ENSE00001080293 | 7025004 | 7025262 |
| ENSE00001588330 | 7030327 | 7033114 |
| ENSE00001595890 | 6994184 | 6994302 |
| ENSE00001628243 | 7001145 | 7001251 |
| ENSE00001672694 | 7009877 | 7009948 |
| ENSE00001676050 | 6967304 | 6967424 |
| ENSE00001884352 | 6909826 | 6909951 |
| ENSE00002242087 | 6923373 | 6924111 |
| ENSE00003466183 | 6996325 | 6996407 |
| ENSE00003511987 | 6999085 | 6999202 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 98.98.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.7946 / max 619.1498, expressed in 1818 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 46808 | 21.2045 | 1645 |
| 46820 | 6.1335 | 1647 |
| 46807 | 4.6417 | 1717 |
| 46821 | 1.4482 | 911 |
| 46819 | 0.1457 | 60 |
| 46806 | 0.0809 | 30 |
| 46818 | 0.0601 | 27 |
| 46805 | 0.0487 | 15 |
| 46817 | 0.0314 | 13 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 98.98 | gold quality |
| kidney epithelium | UBERON:0004819 | 98.27 | gold quality |
| cortical plate | UBERON:0005343 | 98.08 | gold quality |
| upper arm skin | UBERON:0004263 | 98.05 | gold quality |
| oocyte | CL:0000023 | 98.00 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 97.43 | gold quality |
| tibialis anterior | UBERON:0001385 | 96.52 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 96.42 | gold quality |
| ileal mucosa | UBERON:0000331 | 96.27 | gold quality |
| adrenal tissue | UBERON:0018303 | 95.51 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.46 | gold quality |
| sural nerve | UBERON:0015488 | 95.15 | gold quality |
| deltoid | UBERON:0001476 | 94.26 | gold quality |
| renal medulla | UBERON:0000362 | 94.20 | gold quality |
| body of stomach | UBERON:0001161 | 94.15 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 93.98 | gold quality |
| cardia of stomach | UBERON:0001162 | 93.79 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.45 | gold quality |
| adrenal cortex | UBERON:0001235 | 93.36 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 93.34 | gold quality |
| stomach | UBERON:0000945 | 93.33 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.33 | gold quality |
| amygdala | UBERON:0001876 | 93.33 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.31 | gold quality |
| ventricular zone | UBERON:0003053 | 93.18 | gold quality |
| nucleus accumbens | UBERON:0001882 | 93.13 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.13 | gold quality |
| adrenal gland | UBERON:0002369 | 93.08 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.06 | gold quality |
| blood | UBERON:0000178 | 93.03 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 41.27 |
| E-ANND-3 | yes | 6.58 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTCF, NR1I2
miRNA regulators (miRDB)
62 targeting TBC1D14, 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| 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-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-4499 | 99.62 | 67.29 | 1470 |
| HSA-MIR-802 | 99.61 | 67.70 | 1254 |
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)
- TBC1D14 binds activated Rab11 but is not a GAP for Rab11, and loss of Rab11 prevents TBC1D14-induced tubulation of recycling endosomes. (PMID:22613832)
- TRAPPC8 modulates autophagy and secretory trafficking and is required for TBC1D14 to bind TRAPPIII. (PMID:26711178)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tbc1d14 | ENSDARG00000003520 |
| mus_musculus | Tbc1d14 | ENSMUSG00000029192 |
| rattus_norvegicus | Tbc1d14 | ENSRNOG00000006400 |
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), 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 14 — Q9P2M4 (reviewed: Q9P2M4)
All UniProt accessions (6): Q9P2M4, B9A071, C9J541, C9JP26, F5GXK4, H7BZD7
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the regulation of starvation-induced autophagosome formation. Together with the TRAPPIII complex, regulates a constitutive trafficking step from peripheral recycling endosomes to the early Golgi, maintaining the cycling pool of ATG9 required for initiation of autophagy.
Subunit / interactions. Interacts with ULK1. May interact with RAB11A and RAB11B, but does not exhibit any GTPase-activating activity toward these proteins. Interacts with TRAPPC8.
Subcellular location. Golgi apparatus. cis-Golgi network. trans-Golgi network.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9P2M4-1 | 1 | yes |
| Q9P2M4-2 | 2 |
RefSeq proteins (5): NP_001106832, NP_001106834, NP_001273734, NP_001317567, NP_065824* (*=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 (37 total): helix 21, sequence variant 2, mutagenesis site 2, region of interest 2, turn 2, modified residue 2, splice variant 2, chain 1, domain 1, strand 1, compositionally biased region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2QQ8 | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P2M4-F1 | 66.40 | 0.43 |
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): 91, 295
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 472 | loss of inhibition of autophagosome formation; when associated with a-508. |
| 508 | loss of inhibition of autophagosome formation; when associated with a-472. |
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: 227 (showing top):
GOBP_REGULATION_OF_AUTOPHAGY, GOBP_VACUOLE_ORGANIZATION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_VACUOLE_ORGANIZATION, REACTOME_MEMBRANE_TRAFFICKING, MODULE_308, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, YY1_Q6, GOBP_MACROAUTOPHAGY, GOBP_NEGATIVE_REGULATION_OF_AUTOPHAGY, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_REGULATION_OF_CATABOLIC_PROCESS, YY1_02, GOBP_CILIUM_ORGANIZATION
GO Biological Process (5): autophagy (GO:0006914), negative regulation of autophagy (GO:0010507), recycling endosome to Golgi transport (GO:0071955), regulation of autophagosome assembly (GO:2000785), vesicle-mediated transport (GO:0016192)
GO Molecular Function (4): GTPase activator activity (GO:0005096), protein kinase binding (GO:0019901), protein binding (GO:0005515), enzyme binding (GO:0019899)
GO Cellular Component (7): nucleoplasm (GO:0005654), autophagosome (GO:0005776), Golgi apparatus (GO:0005794), cytosol (GO:0005829), recycling endosome (GO:0055037), vacuole (GO:0005773), cytoplasmic vesicle (GO:0031410)
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 |
|---|---|
| cytoplasm | 4 |
| cellular anatomical structure | 2 |
| intracellular membrane-bounded organelle | 2 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| autophagy | 1 |
| negative regulation of catabolic process | 1 |
| regulation of autophagy | 1 |
| retrograde transport, endosome to Golgi | 1 |
| Golgi vesicle transport | 1 |
| autophagosome assembly | 1 |
| regulation of vacuole organization | 1 |
| regulation of organelle assembly | 1 |
| transport | 1 |
| cellular process | 1 |
| GTPase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| kinase binding | 1 |
| binding | 1 |
| protein binding | 1 |
| nuclear lumen | 1 |
| vacuole | 1 |
| endomembrane system | 1 |
| endosome | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
762 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TBC1D14 | RAB11A | P24410 | 816 |
| TBC1D14 | TRAPPC8 | Q9Y2L5 | 754 |
| TBC1D14 | CDC16 | Q13042 | 640 |
| TBC1D14 | TBC1D17 | Q9HA65 | 599 |
| TBC1D14 | TBC1D5 | Q92609 | 594 |
| TBC1D14 | TBC1D19 | Q8N5T2 | 591 |
| TBC1D14 | TBC1D23 | Q9NUY8 | 540 |
| TBC1D14 | TBC1D15 | Q8TC07 | 540 |
| TBC1D14 | RAB33B | Q9H082 | 532 |
| TBC1D14 | SNX18 | Q96RF0 | 527 |
| TBC1D14 | TBC1D20 | Q96BZ9 | 509 |
| TBC1D14 | TBC1D13 | Q9NVG8 | 506 |
| TBC1D14 | TBC1D21 | Q8IYX1 | 494 |
| TBC1D14 | RAB1A | P11476 | 472 |
| TBC1D14 | TBC1D7 | Q9P0N9 | 446 |
IntAct
32 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TBC1D14 | NXF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBC1D14 | ULK1 | psi-mi:“MI:0915”(physical association) | 0.540 |
| ULK1 | TBC1D14 | psi-mi:“MI:0403”(colocalization) | 0.540 |
| ULK1 | TBC1D14 | psi-mi:“MI:0915”(physical association) | 0.540 |
| TGM4 | DDHD2 | psi-mi:“MI:0914”(association) | 0.530 |
| RAB11B | TBC1D14 | psi-mi:“MI:0915”(physical association) | 0.510 |
| TBC1D14 | EEF1G | psi-mi:“MI:0915”(physical association) | 0.400 |
| TBC1D14 | SPARC | psi-mi:“MI:0915”(physical association) | 0.400 |
| TBC1D14 | MMGT1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TBC1D14 | OCIAD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TBC1D14 | RAB11FIP3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TBC1D14 | UBE3A | psi-mi:“MI:0915”(physical association) | 0.370 |
| TBC1D14 | RAB11A | psi-mi:“MI:0915”(physical association) | 0.370 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| TBC1D14 | psi-mi:“MI:0914”(association) | 0.350 | |
| TBC1D14 | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 |
| GAB2 | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF418 | ZNF195 | psi-mi:“MI:0914”(association) | 0.350 |
| AGGF1 | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
| BUD13 | RPSA2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| CPSF6 | CNOT1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| DGCR8 | VWA8 | psi-mi:“MI:2364”(proximity) | 0.270 |
| U2AF2 | NACA | psi-mi:“MI:2364”(proximity) | 0.270 |
| TBC1D14 | ATG13 | psi-mi:“MI:0403”(colocalization) | 0.270 |
| TBC1D14 | TFRC | psi-mi:“MI:0403”(colocalization) | 0.270 |
| TBC1D14 | NXF1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NXF1 | TBC1D14 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TBC1D14 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (58): TBC1D14 (Affinity Capture-MS), TBC1D14 (Affinity Capture-MS), TBC1D14 (Affinity Capture-MS), TBC1D14 (Affinity Capture-MS), TBC1D14 (Affinity Capture-MS), TBC1D14 (Affinity Capture-MS), TRAPPC11 (Affinity Capture-MS), TRAPPC12 (Affinity Capture-MS), TRAPPC13 (Affinity Capture-MS), ADRBK1 (Affinity Capture-MS), TRAPPC8 (Affinity Capture-MS), TRAPPC4 (Affinity Capture-MS), TRAPPC3 (Affinity Capture-MS), TRAPPC6B (Affinity Capture-MS), SELENBP1 (Affinity Capture-MS)
ESM2 similar proteins: A1YFY6, A2T6X9, A6H7I8, B2RUJ5, F1M5F3, F1N2W9, O35430, O35431, O95487, O95628, O95644, P0C6S7, P14316, P17863, P22681, P22682, P23798, P23906, P35227, P81133, P98084, Q02410, Q0IHY4, Q13469, Q14190, Q14432, Q1L994, Q3UR85, Q52L14, Q5CD77, Q5RD33, Q60591, Q61045, Q61079, Q66JB6, Q69ZT9, Q6NRE7, Q6QB00, Q8BIZ1, Q8BT14
Diamond homologs: A6H7I8, M0R7T9, O60347, O96904, Q0IHY4, Q10496, Q5CD77, Q6A039, Q86UD7, Q8CGA2, Q96CN4, Q9P2M4, A2AWA9, Q5RAN1, Q755I4, Q9Y3P9, Q9Y7J5, Q5R372, Q5RCW6, A0A087WVF3, A0A087WXS9, A0A087X179, A0A087X1G2, A3KGB4, A6H6A9, A6NDS4, A6NER0, A6QP29, B9A6J9, D2H0G5, H2KZZ6, O60343, O95759, O97790, P0C7X1, P35125, P53258, P58802, Q0IIM8, Q28CB1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
116 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 88 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3989 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:6923371:A:AG | acceptor_gain | 1.0000 |
| 4:6923371:A:G | acceptor_loss | 1.0000 |
| 4:6923372:G:GT | acceptor_gain | 1.0000 |
| 4:6923372:GT:G | acceptor_gain | 1.0000 |
| 4:6923372:GTT:G | acceptor_gain | 1.0000 |
| 4:6923372:GTTT:G | acceptor_gain | 1.0000 |
| 4:6923372:GTTTC:G | acceptor_gain | 1.0000 |
| 4:6924057:C:G | donor_gain | 1.0000 |
| 4:6924066:G:GT | donor_gain | 1.0000 |
| 4:6924066:G:T | donor_gain | 1.0000 |
| 4:6994298:CCAGC:C | donor_gain | 1.0000 |
| 4:6994300:AGCGT:A | donor_loss | 1.0000 |
| 4:6994301:GC:G | donor_gain | 1.0000 |
| 4:6994301:GCGTG:G | donor_loss | 1.0000 |
| 4:6994302:CG:C | donor_loss | 1.0000 |
| 4:6994303:G:GG | donor_gain | 1.0000 |
| 4:6994303:GTG:G | donor_loss | 1.0000 |
| 4:6994304:T:G | donor_loss | 1.0000 |
| 4:6994342:GAAA:G | donor_gain | 1.0000 |
| 4:6996318:T:TA | acceptor_gain | 1.0000 |
| 4:6996323:A:G | acceptor_gain | 1.0000 |
| 4:7006723:GCAA:G | donor_gain | 1.0000 |
| 4:7006727:G:GG | donor_gain | 1.0000 |
| 4:7010777:GCCTT:G | donor_gain | 1.0000 |
| 4:7010782:G:GG | donor_gain | 1.0000 |
| 4:7014443:CCTA:C | acceptor_loss | 1.0000 |
| 4:7014444:CTAG:C | acceptor_loss | 1.0000 |
| 4:7014445:TA:T | acceptor_loss | 1.0000 |
| 4:7014446:A:AG | acceptor_gain | 1.0000 |
| 4:7014447:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
4586 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:6994281:T:A | L314H | 1.000 |
| 4:6994281:T:C | L314P | 1.000 |
| 4:6994284:T:C | I315T | 1.000 |
| 4:6999168:T:A | W377R | 1.000 |
| 4:6999168:T:C | W377R | 1.000 |
| 4:7001201:G:C | R407T | 1.000 |
| 4:7001201:G:T | R407I | 1.000 |
| 4:7001210:T:A | V410D | 1.000 |
| 4:7001212:T:A | W411R | 1.000 |
| 4:7001212:T:C | W411R | 1.000 |
| 4:7006686:A:T | D469V | 1.000 |
| 4:7006718:T:C | F480L | 1.000 |
| 4:7006719:T:C | F480S | 1.000 |
| 4:7006719:T:G | F480C | 1.000 |
| 4:7006720:C:A | F480L | 1.000 |
| 4:7006720:C:G | F480L | 1.000 |
| 4:7009899:T:G | L490W | 1.000 |
| 4:7009919:T:G | Y497D | 1.000 |
| 4:7009931:C:G | R501G | 1.000 |
| 4:7009932:G:C | R501P | 1.000 |
| 4:7009944:G:A | G505D | 1.000 |
| 4:7009946:T:C | Y506H | 1.000 |
| 4:7010659:G:C | G509R | 1.000 |
| 4:7010678:C:A | A515E | 1.000 |
| 4:7010732:T:C | L533P | 1.000 |
| 4:7025056:T:A | W604R | 1.000 |
| 4:7025056:T:C | W604R | 1.000 |
| 4:7025059:G:C | D605H | 1.000 |
| 4:6994284:T:A | I315N | 0.999 |
| 4:6994284:T:G | I315S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS10000433 (4:6959074 G>A), RS1000069459 (4:6924946 A>C,T), RS1000069927 (4:6996528 C>A,T), RS1000072627 (4:7011998 A>G), RS1000100382 (4:6939185 T>C), RS1000105846 (4:6975173 C>G,T), RS1000119360 (4:7030239 T>A), RS1000152184 (4:6949043 G>A,T), RS1000152404 (4:7026950 C>T), RS1000174849 (4:7001926 G>A), RS1000178447 (4:6915613 A>T), RS1000180316 (4:7026410 T>G), RS10002398 (4:6998694 A>C,G), RS1000241761 (4:7012174 C>G,T), RS1000283329 (4:6982678 A>G)
Disease associations
OMIM: gene MIM:614855 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
19 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004599_87 | Mean platelet volume | 1.000000e-12 |
| GCST004608_84 | Granulocyte percentage of myeloid white cells | 9.000000e-12 |
| GCST004609_121 | Monocyte percentage of white cells | 8.000000e-18 |
| GCST004625_79 | Monocyte count | 1.000000e-19 |
| GCST012462_3 | Asthma and eczema | 6.000000e-06 |
| GCST90002381_202 | Eosinophil count | 9.000000e-10 |
| GCST90002389_37 | Lymphocyte percentage of white cells | 4.000000e-19 |
| GCST90002393_217 | Monocyte count | 8.000000e-11 |
| GCST90002394_270 | Monocyte percentage of white cells | 1.000000e-09 |
| GCST90002394_271 | Monocyte percentage of white cells | 6.000000e-12 |
| GCST90002395_565 | Mean platelet volume | 2.000000e-27 |
| GCST90002395_566 | Mean platelet volume | 2.000000e-18 |
| GCST90002397_1 | Mean spheric corpuscular volume | 6.000000e-09 |
| GCST90002398_443 | Neutrophil count | 1.000000e-19 |
| GCST90002398_444 | Neutrophil count | 1.000000e-11 |
| GCST90002399_413 | Neutrophil percentage of white cells | 9.000000e-13 |
| GCST90002407_423 | White blood cell count | 7.000000e-16 |
| GCST90002407_424 | White blood cell count | 3.000000e-10 |
| GCST90020028_1959 | Hip circumference adjusted for BMI | 4.000000e-08 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007997 | granulocyte percentage of myeloid white cells |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0005091 | monocyte count |
| EFO:0004842 | eosinophil count |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0004833 | neutrophil count |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:0008039 | BMI-adjusted hip circumference |
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 | 3 |
| bisphenol A | affects cotreatment, decreases methylation, increases expression | 2 |
| sodium arsenite | increases abundance, increases expression, decreases expression, affects cotreatment | 2 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance, increases oxidation, affects expression | 2 |
| Arsenic | increases expression, affects methylation, affects cotreatment, increases abundance | 2 |
| Estradiol | affects cotreatment, increases expression | 2 |
| Ozone | affects cotreatment, decreases expression, increases oxidation, increases abundance, affects expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases oxidation, increases abundance | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases oxidation, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Fulvestrant | decreases methylation, affects cotreatment | 1 |
| Norethindrone Acetate | affects cotreatment, increases expression | 1 |
| Acrolein | increases abundance, affects cotreatment, decreases expression, increases oxidation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | 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.