TECPR1
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Also known as DKFZP434B0335FLJ23419FLJ90593KIAA1358
Summary
TECPR1 (tectonin beta-propeller repeat containing 1, HGNC:22214) is a protein-coding gene on chromosome 7q21.3, encoding Tectonin beta-propeller repeat-containing protein 1 (Q7Z6L1). Tethering factor involved in autophagy.
This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy
Source: NCBI Gene 25851 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 246 total — 2 likely-pathogenic
- MANE Select transcript:
NM_015395
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:22214 |
| Approved symbol | TECPR1 |
| Name | tectonin beta-propeller repeat containing 1 |
| Location | 7q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358 |
| Ensembl gene | ENSG00000205356 |
| Ensembl biotype | protein_coding |
| OMIM | 614781 |
| Entrez | 25851 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 14 protein_coding, 7 retained_intron, 6 protein_coding_CDS_not_defined
ENST00000415086, ENST00000420697, ENST00000423128, ENST00000447648, ENST00000462511, ENST00000463402, ENST00000463648, ENST00000471397, ENST00000472845, ENST00000474915, ENST00000476659, ENST00000479911, ENST00000479975, ENST00000483740, ENST00000485716, ENST00000488667, ENST00000490842, ENST00000871694, ENST00000871695, ENST00000871696, ENST00000871697, ENST00000962624, ENST00000962625, ENST00000962626, ENST00000962627, ENST00000962628, ENST00000962629
RefSeq mRNA: 1 — MANE Select: NM_015395
NM_015395
CCDS: CCDS47648
Canonical transcript exons
ENST00000447648 — 26 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001482527 | 98232827 | 98232972 |
| ENSE00001482530 | 98233421 | 98233911 |
| ENSE00001482531 | 98236776 | 98236921 |
| ENSE00001482533 | 98238509 | 98238610 |
| ENSE00001482537 | 98243467 | 98243592 |
| ENSE00001482540 | 98245922 | 98246165 |
| ENSE00001482542 | 98251394 | 98251548 |
| ENSE00001915572 | 98252126 | 98252232 |
| ENSE00001924942 | 98214624 | 98217503 |
| ENSE00003472749 | 98222990 | 98223170 |
| ENSE00003474478 | 98230961 | 98231118 |
| ENSE00003476319 | 98244571 | 98244693 |
| ENSE00003491809 | 98221661 | 98221753 |
| ENSE00003501734 | 98225006 | 98225102 |
| ENSE00003508899 | 98231804 | 98231959 |
| ENSE00003510895 | 98223662 | 98223718 |
| ENSE00003521800 | 98240851 | 98240951 |
| ENSE00003524807 | 98229039 | 98229166 |
| ENSE00003533806 | 98231224 | 98231373 |
| ENSE00003573450 | 98217936 | 98218042 |
| ENSE00003607537 | 98217692 | 98217811 |
| ENSE00003609037 | 98241070 | 98241244 |
| ENSE00003615524 | 98228014 | 98228116 |
| ENSE00003626443 | 98244885 | 98245067 |
| ENSE00003628635 | 98222386 | 98222521 |
| ENSE00003642236 | 98224801 | 98224880 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 99.22.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.2129 / max 77.1087, expressed in 1767 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 85043 | 8.2129 | 1767 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 99.22 | gold quality |
| pancreatic ductal cell | CL:0002079 | 97.84 | gold quality |
| ileal mucosa | UBERON:0000331 | 96.49 | gold quality |
| endothelial cell | CL:0000115 | 94.37 | gold quality |
| sural nerve | UBERON:0015488 | 93.89 | gold quality |
| trachea | UBERON:0003126 | 93.12 | gold quality |
| granulocyte | CL:0000094 | 93.07 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 92.73 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.39 | gold quality |
| tibialis anterior | UBERON:0001385 | 92.24 | gold quality |
| apex of heart | UBERON:0002098 | 91.32 | gold quality |
| blood | UBERON:0000178 | 91.31 | gold quality |
| vermiform appendix | UBERON:0001154 | 91.15 | gold quality |
| cortical plate | UBERON:0005343 | 91.07 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 90.65 | gold quality |
| frontal cortex | UBERON:0001870 | 90.31 | gold quality |
| bone marrow cell | CL:0002092 | 89.92 | gold quality |
| pituitary gland | UBERON:0000007 | 89.72 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 89.47 | silver quality |
| neocortex | UBERON:0001950 | 89.42 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 89.26 | silver quality |
| caecum | UBERON:0001153 | 89.08 | gold quality |
| entorhinal cortex | UBERON:0002728 | 88.89 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 88.79 | gold quality |
| right frontal lobe | UBERON:0002810 | 88.69 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.41 | gold quality |
| parietal lobe | UBERON:0001872 | 88.28 | gold quality |
| upper arm skin | UBERON:0004263 | 88.28 | silver quality |
| postcentral gyrus | UBERON:0002581 | 88.21 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 88.20 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 19.03 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
39 targeting TECPR1, 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-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-1208 | 99.70 | 68.28 | 1533 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-4269 | 99.55 | 69.89 | 1373 |
| HSA-MIR-3120-3P | 99.54 | 70.28 | 2669 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-766-3P | 99.47 | 65.24 | 1811 |
| HSA-MIR-365A-3P | 99.43 | 70.02 | 836 |
| HSA-MIR-365B-3P | 99.43 | 70.02 | 836 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-128-1-5P | 99.33 | 60.46 | 332 |
| HSA-MIR-128-2-5P | 99.33 | 60.83 | 311 |
| HSA-MIR-3606-5P | 99.31 | 69.67 | 1168 |
| HSA-MIR-4667-3P | 99.26 | 65.45 | 1608 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
| HSA-MIR-6761-5P | 98.71 | 68.03 | 1504 |
| HSA-MIR-374B-3P | 98.63 | 68.24 | 1360 |
Literature-anchored findings (GeneRIF, showing 4)
- The concerted interactions among TECPR1, Atg12-Atg5, and PtdIns(3)P provide the fusion specificity between autophagosomes and lysosomes and that the assembly of this complex initiates the autophagosome maturation process. (PMID:22342342)
- TECPR1 promotes aggrephagy by direct recruitment of LC3C autophagosomes to lysosomes. (PMID:32532970)
- TECPR1 Induces Apoptosis in Non-Small Cell Lung Carcinoma via ATG5 Upregulation-Induced Autophagy Promotion. (PMID:36197771)
- TECPR1 is activated by damage-induced sphingomyelin exposure to mediate noncanonical autophagy. (PMID:37409525)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tecpr1a | ENSDARG00000062515 |
| danio_rerio | tecpr1b | ENSDARG00000074086 |
| mus_musculus | Tecpr1 | ENSMUSG00000066621 |
| rattus_norvegicus | Tecpr1 | ENSRNOG00000001010 |
| drosophila_melanogaster | Pex23 | FBGN0288469 |
Protein
Protein identifiers
Tectonin beta-propeller repeat-containing protein 1 — Q7Z6L1 (reviewed: Q7Z6L1)
All UniProt accessions (4): C9J2A1, C9JEV4, C9JUV4, Q7Z6L1
UniProt curated annotations — full annotation on UniProt →
Function. Tethering factor involved in autophagy. Involved in autophagosome maturation by promoting the autophagosome fusion with lysosomes: acts by associating with both the ATG5-ATG12 conjugate and phosphatidylinositol-3-phosphate (PtdIns(3)P) present at the surface of autophagosomes. Also involved in selective autophagy against bacterial pathogens, by being required for phagophore/preautophagosomal structure biogenesis and maturation.
Subunit / interactions. Interacts with ATG5; the interaction is direct. Interacts with WIPI2. Interacts with the ATG5-ATG12 conjugate, the interaction is however mutually exclusive with ATG16, since it does not interact with ATG12-ATG5-ATG16 complex.
Subcellular location. Cytoplasmic vesicle. Autophagosome membrane. Lysosome membrane.
Domain organisation. The PH domain mediates the binding to phosphatidylinositol-3-phosphate (PtdIns(3)P). While full-length protein is unable to bind PtdIns(3)P in vitro, it is assumed that the binding to the ATG5-ATG12 conjugate exposes the PH domain, allowing the association with PtdIns(3)P.
Similarity. Belongs to the TECPR1 family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7Z6L1-1 | 1 | yes |
| Q7Z6L1-2 | 2 | |
| Q7Z6L1-3 | 3 | |
| Q7Z6L1-4 | 4 |
RefSeq proteins (1): NP_056210* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006614 | Peroxin/Ferlin | Domain |
| IPR006624 | Beta-propeller_rpt_TECPR | Repeat |
| IPR010482 | TECPR1-like_DysF | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR051513 | Tectonin_beta-prop | Family |
Pfam: PF06398, PF06462, PF19193
UniProt features (38 total): repeat 9, modified residue 7, splice variant 6, sequence conflict 6, region of interest 2, sequence variant 2, chain 1, compositionally biased region 1, helix 1, turn 1, strand 1, domain 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4TQ1 | X-RAY DIFFRACTION | 1.8 |
| 8P5P | X-RAY DIFFRACTION | 1.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z6L1-F1 | 79.53 | 0.48 |
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 (7): 386, 388, 391, 412, 417, 938, 949
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 143 (showing top):
GOBP_REGULATION_OF_AUTOPHAGY, GOCC_VACUOLAR_MEMBRANE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_MACROAUTOPHAGY, GOBP_REGULATION_OF_CATABOLIC_PROCESS, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, HEN1_01, LIAO_METASTASIS, MYOD_Q6, NRF2_Q4, BROWN_MYELOID_CELL_DEVELOPMENT_UP, CUI_TCF21_TARGETS_2_DN, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_DISASSEMBLY, GOCC_AUTOPHAGOSOME, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN
GO Biological Process (4): autophagy (GO:0006914), macroautophagy (GO:0016236), autophagosome maturation (GO:0097352), regulation of autophagosome maturation (GO:1901096)
GO Molecular Function (3): phosphatidylinositol-3-phosphate binding (GO:0032266), protein binding (GO:0005515), lipid binding (GO:0008289)
GO Cellular Component (9): autophagosome membrane (GO:0000421), nucleoplasm (GO:0005654), lysosomal membrane (GO:0005765), cytoplasmic vesicle (GO:0031410), protein-containing complex (GO:0032991), cytoplasm (GO:0005737), lysosome (GO:0005764), membrane (GO:0016020), bounding membrane of organelle (GO:0098588)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| binding | 2 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| autophagosome assembly | 1 |
| autophagy | 1 |
| macroautophagy | 1 |
| protein-containing complex disassembly | 1 |
| regulation of macroautophagy | 1 |
| regulation of organelle organization | 1 |
| regulation of protein-containing complex disassembly | 1 |
| autophagosome maturation | 1 |
| phosphatidylinositol phosphate binding | 1 |
| vacuolar membrane | 1 |
| autophagosome | 1 |
| nuclear lumen | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
| cellular_component | 1 |
| intracellular anatomical structure | 1 |
| lytic vacuole | 1 |
| organelle membrane | 1 |
Protein interactions and networks
STRING
1677 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TECPR1 | ATG5 | Q9H1Y0 | 992 |
| TECPR1 | ATG12 | O94817 | 979 |
| TECPR1 | WIPI2 | Q9Y4P8 | 977 |
| TECPR1 | WIPI1 | Q5MNZ9 | 747 |
| TECPR1 | ATG16L1 | Q676U5 | 724 |
| TECPR1 | PLEKHM1 | Q9Y4G2 | 681 |
| TECPR1 | GABARAPL2 | P60520 | 654 |
| TECPR1 | F5GZY7 | F5GZY7 | 646 |
| TECPR1 | ATG3 | Q9NT62 | 641 |
| TECPR1 | EPG5 | Q9HCE0 | 589 |
| TECPR1 | CALCOCO2 | Q13137 | 466 |
| TECPR1 | TRAPPC12 | Q8WVT3 | 437 |
| TECPR1 | STX17 | P56962 | 434 |
| TECPR1 | MAP1LC3C | Q9BXW4 | 433 |
| TECPR1 | ATG14 | Q6ZNE5 | 418 |
IntAct
30 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TECPR1 | ATG5 | psi-mi:“MI:0915”(physical association) | 0.820 |
| ATG5 | ATG12 | psi-mi:“MI:0914”(association) | 0.800 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| ATG3 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.530 |
| ATG3 | TECPR1 | psi-mi:“MI:0915”(physical association) | 0.500 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| TECPR1 | H1-2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TECPR1 | PRPF8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ATG5 | IGKV1-5 | psi-mi:“MI:0914”(association) | 0.350 |
| FYCO1 | SEC24B | psi-mi:“MI:0914”(association) | 0.350 |
| TECPR1 | PLOD3 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG12 | GABARAP | psi-mi:“MI:0914”(association) | 0.350 |
| ATG5 | PLOD2 | psi-mi:“MI:0914”(association) | 0.350 |
| BECN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| ATG12 | EMC8 | psi-mi:“MI:0914”(association) | 0.350 |
| CDH5 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| STXBP1 | TECPR1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ATG5 | TECPR1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (32): TECPR1 (Co-crystal Structure), TECPR1 (Two-hybrid), TECPR1 (Reconstituted Complex), TECPR1 (Two-hybrid), ATG5 (Reconstituted Complex), TECPR1 (Proximity Label-MS), TECPR1 (Proximity Label-MS), TECPR1 (Affinity Capture-RNA), TECPR1 (Affinity Capture-MS), TECPR1 (Affinity Capture-MS), TECPR1 (Affinity Capture-MS), TECPR1 (Protein-peptide), TMEM63B (Cross-Linking-MS (XL-MS)), TECPR1 (Affinity Capture-MS), TECPR1 (Affinity Capture-MS)
ESM2 similar proteins: A1L3L1, A2RT67, A2RUS2, A3KPW7, A4IJ06, A6QNT4, D2HNY3, D3ZV31, E1BGQ2, E1C3P4, F1R7R1, O15040, O75031, P48553, P50747, Q0IHB3, Q2TBA3, Q3TLI0, Q3U0J8, Q3ZBA0, Q3ZBK7, Q496Y0, Q5F3F2, Q5M7Q1, Q5R5Y0, Q5ZJK1, Q66H91, Q69ZK0, Q69ZT1, Q6GR37, Q6NTL4, Q6VNB8, Q7TPQ3, Q7Z6L1, Q80VP0, Q8BKW4, Q8BXK4, Q8HXH0, Q8IWR0, Q8IYL2
Diamond homologs: A9JRJ2, E1BZR9, O94611, Q3ZBA0, Q5R5Y0, Q7Z6L1, Q80VP0, Q9VWB0, O44126, P36573, Q09581, Q9JL15
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 19 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 |
|---|---|---|---|
| Macroautophagy | 5 | 38.5× | 1e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| autophagosome assembly | 6 | 74.9× | 3e-08 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
246 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 2 |
| Uncertain significance | 192 |
| Likely benign | 7 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 916572 | NM_015395.3(TECPR1):c.2617G>A (p.Asp873Asn) | Likely pathogenic |
| 982232 | NM_015395.3(TECPR1):c.2899C>T (p.Arg967Cys) | Likely pathogenic |
SpliceAI
4810 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:98217920:C:CA | donor_gain | 1.0000 |
| 7:98222379:CACT:C | donor_loss | 1.0000 |
| 7:98222380:ACTC:A | donor_loss | 1.0000 |
| 7:98222381:CT:C | donor_loss | 1.0000 |
| 7:98222382:TCA:T | donor_loss | 1.0000 |
| 7:98222383:CAC:C | donor_loss | 1.0000 |
| 7:98222384:A:AC | donor_gain | 1.0000 |
| 7:98222384:A:C | donor_loss | 1.0000 |
| 7:98222385:C:CC | donor_gain | 1.0000 |
| 7:98222385:CCGG:C | donor_gain | 1.0000 |
| 7:98222517:GAGCC:G | acceptor_gain | 1.0000 |
| 7:98222519:GCC:G | acceptor_gain | 1.0000 |
| 7:98222520:CC:C | acceptor_gain | 1.0000 |
| 7:98222520:CCC:C | acceptor_gain | 1.0000 |
| 7:98222521:CC:C | acceptor_gain | 1.0000 |
| 7:98222522:C:CC | acceptor_gain | 1.0000 |
| 7:98222522:C:T | acceptor_gain | 1.0000 |
| 7:98222983:CACT:C | donor_loss | 1.0000 |
| 7:98222984:ACTC:A | donor_loss | 1.0000 |
| 7:98222985:CTCA:C | donor_loss | 1.0000 |
| 7:98222986:TCA:T | donor_loss | 1.0000 |
| 7:98222987:CACCG:C | donor_loss | 1.0000 |
| 7:98222988:A:AC | donor_gain | 1.0000 |
| 7:98222989:C:CC | donor_gain | 1.0000 |
| 7:98222989:C:CG | donor_loss | 1.0000 |
| 7:98222989:CCG:C | donor_gain | 1.0000 |
| 7:98228009:CTTA:C | donor_loss | 1.0000 |
| 7:98228010:TTAC:T | donor_loss | 1.0000 |
| 7:98228011:TA:T | donor_loss | 1.0000 |
| 7:98228013:C:CA | donor_loss | 1.0000 |
AlphaMissense
7619 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:98217989:A:G | W1071R | 0.999 |
| 7:98217989:A:T | W1071R | 0.999 |
| 7:98222512:A:G | W980R | 0.999 |
| 7:98222512:A:T | W980R | 0.999 |
| 7:98223679:C:A | R910S | 0.999 |
| 7:98223679:C:G | R910S | 0.999 |
| 7:98223680:C:G | R910T | 0.999 |
| 7:98224826:A:G | W889R | 0.999 |
| 7:98224826:A:T | W889R | 0.999 |
| 7:98217709:A:G | W1123R | 0.998 |
| 7:98217709:A:T | W1123R | 0.998 |
| 7:98217987:C:A | W1071C | 0.998 |
| 7:98217987:C:G | W1071C | 0.998 |
| 7:98221745:A:G | W1025R | 0.998 |
| 7:98221745:A:T | W1025R | 0.998 |
| 7:98223142:A:G | W926R | 0.998 |
| 7:98223142:A:T | W926R | 0.998 |
| 7:98223676:C:A | R911S | 0.998 |
| 7:98223676:C:G | R911S | 0.998 |
| 7:98223680:C:A | R910M | 0.998 |
| 7:98224824:C:A | W889C | 0.998 |
| 7:98224824:C:G | W889C | 0.998 |
| 7:98224871:A:G | W874R | 0.998 |
| 7:98224871:A:T | W874R | 0.998 |
| 7:98225077:A:G | W847R | 0.998 |
| 7:98225077:A:T | W847R | 0.998 |
| 7:98228042:A:G | W829R | 0.998 |
| 7:98228042:A:T | W829R | 0.998 |
| 7:98228045:G:T | R828S | 0.998 |
| 7:98229105:A:G | W782R | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000104157 (7:98245239 A>C), RS1000189366 (7:98242028 T>C), RS1000191248 (7:98230065 C>G), RS1000272864 (7:98245019 G>A), RS1000360363 (7:98215339 T>G), RS1000431052 (7:98253034 G>C), RS1000583312 (7:98247021 G>A,T), RS1000585491 (7:98219619 C>A,T), RS1000673098 (7:98234384 C>A,T), RS1000759598 (7:98253325 A>G), RS1000794856 (7:98240505 C>T), RS1000822954 (7:98233226 G>A), RS1000879074 (7:98217865 G>A), RS1000884980 (7:98229445 T>C), RS1000931003 (7:98234626 T>A)
Disease associations
OMIM: gene MIM:614781 | disease phenotypes: MIM:189960
GenCC curated gene-disease
Mondo (1): esophageal atresia/tracheoesophageal fistula (MONDO:0008586)
Orphanet (2): Esophageal atresia (Orphanet:1199), Moyamoya angiopathy (Orphanet:477768)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008971_65 | Urate levels | 2.000000e-08 |
| GCST008972_40 | Urate levels | 2.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C531835 | Esophageal atresia with or without tracheoesophageal fistula (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | decreases methylation | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| sulphoraphene | decreases expression | 1 |
| clothianidin | decreases expression | 1 |
| abrine | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Smoke | decreases expression | 1 |
| Asbestos, Crocidolite | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
Clinical trials (associated diseases)
5 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03792360 | PHASE1 | WITHDRAWN | Adipose Derived SVF for Aero-digestive & Enterocutaneous Fistulae |
| NCT02033772 | Not specified | COMPLETED | Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery |
| NCT02364843 | Not specified | TERMINATED | A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months |
| NCT03455881 | Not specified | UNKNOWN | Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients |
| NCT03730454 | Not specified | ACTIVE_NOT_RECRUITING | Transanastomotic Tube for Proximal Esophageal Atresia With Distal Tracheoesophageal Fistula Repair |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): esophageal atresia/tracheoesophageal fistula