TEPSIN
geneOn this page
Also known as FLJ31528
Summary
TEPSIN (TEPSIN adaptor related protein complex 4 accessory protein, HGNC:26458) is a protein-coding gene on chromosome 17q25.3, encoding AP-4 complex accessory subunit Tepsin (Q96N21). Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network. It is a selective cancer dependency (DepMap: 10.0% of cell lines).
Located in coated vesicle membrane and trans-Golgi network membrane.
Source: NCBI Gene 146705 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 24 total
- Cancer dependency (DepMap): dependent in 10.0% of screened cell lines
- MANE Select transcript:
NM_001363764
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26458 |
| Approved symbol | TEPSIN |
| Name | TEPSIN adaptor related protein complex 4 accessory protein |
| Location | 17q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ31528 |
| Ensembl gene | ENSG00000167302 |
| Ensembl biotype | protein_coding |
| Entrez | 146705 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 8 protein_coding, 5 retained_intron, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000300714, ENST00000570854, ENST00000571094, ENST00000571115, ENST00000571601, ENST00000572050, ENST00000573295, ENST00000574517, ENST00000574944, ENST00000575891, ENST00000575961, ENST00000576090, ENST00000637944, ENST00000883794, ENST00000883795, ENST00000883796, ENST00000918162, ENST00000918165
RefSeq mRNA: 2 — MANE Select: NM_001363764
NM_001363764, NM_144679
CCDS: CCDS11779, CCDS86648
Canonical transcript exons
ENST00000637944 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003461269 | 81231847 | 81232021 |
| ENSE00003484143 | 81231578 | 81231691 |
| ENSE00003485422 | 81236980 | 81237071 |
| ENSE00003487992 | 81230544 | 81230678 |
| ENSE00003534151 | 81231398 | 81231476 |
| ENSE00003542883 | 81233638 | 81233716 |
| ENSE00003546467 | 81233432 | 81233503 |
| ENSE00003618994 | 81236708 | 81236801 |
| ENSE00003621272 | 81237387 | 81237459 |
| ENSE00003633404 | 81233981 | 81234048 |
| ENSE00003794828 | 81232315 | 81232518 |
| ENSE00003795218 | 81238986 | 81239055 |
| ENSE00003919580 | 81228277 | 81229476 |
Expression profiles
Bgee: expression breadth ubiquitous, 204 present calls, max score 96.78.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.0090 / max 70.9613, expressed in 1757 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 168677 | 6.8168 | 1754 |
| 168678 | 0.1923 | 55 |
Top tissues by expression
234 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 96.78 | gold quality |
| metanephros cortex | UBERON:0010533 | 93.90 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.46 | gold quality |
| spleen | UBERON:0002106 | 93.41 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.26 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 92.75 | gold quality |
| body of stomach | UBERON:0001161 | 92.52 | gold quality |
| transverse colon | UBERON:0001157 | 91.57 | gold quality |
| minor salivary gland | UBERON:0001830 | 91.38 | gold quality |
| small intestine | UBERON:0002108 | 91.22 | gold quality |
| apex of heart | UBERON:0002098 | 91.09 | gold quality |
| thyroid gland | UBERON:0002046 | 91.06 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.05 | gold quality |
| body of pancreas | UBERON:0001150 | 90.94 | gold quality |
| skin of leg | UBERON:0001511 | 90.84 | gold quality |
| right lobe of liver | UBERON:0001114 | 90.80 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.80 | gold quality |
| lower esophagus | UBERON:0013473 | 90.79 | gold quality |
| skin of abdomen | UBERON:0001416 | 90.78 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 90.72 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 90.70 | gold quality |
| body of uterus | UBERON:0009853 | 90.58 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 90.17 | gold quality |
| left uterine tube | UBERON:0001303 | 90.09 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.08 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 89.92 | gold quality |
| pancreatic ductal cell | CL:0002079 | 89.82 | silver quality |
| tibial nerve | UBERON:0001323 | 89.81 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 89.67 | gold quality |
| right coronary artery | UBERON:0001625 | 89.59 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.46 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
47 targeting TEPSIN, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-646 | 99.68 | 67.84 | 1645 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 10.0% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- The bivalency of the interactions contributes to a higher avidity of tepsin for AP-4. (PMID:26542808)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tepsin | ENSDARG00000071406 |
| mus_musculus | Tepsin | ENSMUSG00000025377 |
| rattus_norvegicus | Tepsin | ENSRNOG00000028161 |
Protein
Protein identifiers
AP-4 complex accessory subunit Tepsin — Q96N21 (reviewed: Q96N21)
Alternative names: ENTH domain-containing protein 2, Epsin for AP-4, Tetra-epsin
All UniProt accessions (6): A0A1B0GV70, Q96N21, I3L3N1, I3L3R3, I3L4J0, I3L4S7
UniProt curated annotations — full annotation on UniProt →
Function. Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network.
Subunit / interactions. Interacts with AP4B1 and AP4E1; the interaction is direct and mediates the association of TEPSIN with the adapter-like complex 4 (AP-4), a heterotetramer composed of AP4B1, AP4E1, AP4M1 and AP4S1.
Subcellular location. Golgi apparatus. trans-Golgi network membrane. Cytoplasmic vesicle. Cytoplasm. Cytosol.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96N21-1 | 1 | yes |
| Q96N21-2 | 2 |
RefSeq proteins (2): NP_001350693, NP_653280 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008942 | ENTH_VHS | Homologous_superfamily |
| IPR013809 | ENTH | Domain |
| IPR035802 | ENTH/VHS_tepsin | Domain |
| IPR039273 | TEPSIN | Family |
| IPR058028 | Tepsin_VHS/ENTH-like | Domain |
Pfam: PF01417, PF25827
UniProt features (53 total): mutagenesis site 28, helix 7, region of interest 5, compositionally biased region 4, modified residue 2, splice variant 2, chain 1, domain 1, strand 1, turn 1, sequence conflict 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5WFB | X-RAY DIFFRACTION | 1.38 |
| 5WF9 | X-RAY DIFFRACTION | 1.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96N21-F1 | 68.96 | 0.46 |
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): 333, 356
Mutagenesis-validated functional residues (28):
| Position | Phenotype |
|---|---|
| 467 | no effect on interaction with ap4b1 in vitro. |
| 468 | no effect on interaction with ap4b1 in vitro. |
| 469 | no effect on interaction with ap4b1 in vitro. |
| 470 | loss of interaction with ap4b1 n vitro. |
| 470 | loss of interaction with ap4b1 in vitro; when associated with s-471. |
| 471 | loss of interaction with ap4b1 in vitro. |
| 471 | loss of interaction with ap4b1 in vitro; when associated with s-470. |
| 472 | no effect on interaction with ap4b1 in vitro. |
| 473 | no effect on interaction with ap4b1 in vitro. |
| 473 | loss of interaction with ap4b1 in vitro; when associated with q-474. |
| 474 | decreased interaction with ap4b1 in vitro. |
| 474 | decreased interaction with ap4b1 in vitro; when associated with a-476. |
| 474 | loss of interaction with ap4b1 in vitro; when associated with i-473. |
| 475 | no effect on interaction with ap4b1 in vitro. |
| 476 | no effect on interaction with ap4b1 in vitro. decreased interaction with ap4b1; when associated with d-474. |
| 476 | decreased interaction with ap4b1 in vitro; when associated with s-477. |
| 477 | no effect on interaction with ap4b1 in vitro. |
| 477 | decreased interaction with ap4b1 in vitro; when associated with s-476. |
| 516 | no effect on interaction with ap4e1 in vitro. |
| 517 | no effect on interaction with ap4e1 in vitro. |
| 518 | loss of interaction with ap4e1 in vitro. |
| 519 | loss of interaction with ap4e1 in vitro. |
| 520 | loss of interaction with ap4e1 in vitro. |
| 521 | no effect on interaction with ap4e1 in vitro. |
| 522 | loss of interaction with ap4e1 in vitro. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 77 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, RNGTGGGC_UNKNOWN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOCC_TRANS_GOLGI_NETWORK, GOCC_COATED_VESICLE, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GOCC_TRANS_GOLGI_NETWORK_MEMBRANE, GOCC_ORGANELLE_SUBCOMPARTMENT, AAGWWRNYGGC_UNKNOWN, GINESTIER_BREAST_CANCER_20Q13_AMPLIFICATION_DN, BRUINS_UVC_RESPONSE_MIDDLE, FEVR_CTNNB1_TARGETS_UP, GOMF_PROTEIN_CONTAINING_COMPLEX_BINDING
GO Biological Process (0):
GO Molecular Function (2): protein-containing complex binding (GO:0044877), protein binding (GO:0005515)
GO Cellular Component (8): cytoplasm (GO:0005737), cytosol (GO:0005829), coated vesicle membrane (GO:0030662), organelle membrane (GO:0031090), trans-Golgi network membrane (GO:0032588), Golgi apparatus (GO:0005794), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoplasm | 3 |
| binding | 2 |
| intracellular anatomical structure | 1 |
| coated vesicle | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| membrane | 1 |
| membrane-bounded organelle | 1 |
| trans-Golgi network | 1 |
| organelle membrane | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
730 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TEPSIN | AP4E1 | Q9UPM8 | 667 |
| TEPSIN | AP4B1 | Q9Y6B7 | 655 |
| TEPSIN | AP4S1 | Q9Y587 | 635 |
| TEPSIN | LRRC73 | Q5JTD7 | 626 |
| TEPSIN | ANKRD13D | Q6ZTN6 | 626 |
| TEPSIN | AP4M1 | O00189 | 585 |
| TEPSIN | VSIG10 | Q8N0Z9 | 532 |
| TEPSIN | TMEM87A | Q8NBN3 | 509 |
| TEPSIN | RUSC2 | Q8N2Y8 | 509 |
| TEPSIN | POLR3H | Q9Y535 | 468 |
| TEPSIN | GPAA1 | O43292 | 462 |
| TEPSIN | ZCCHC8 | Q6NZY4 | 460 |
| TEPSIN | CLINT1 | Q14677 | 448 |
| TEPSIN | CCDC170 | Q8IYT3 | 445 |
| TEPSIN | NWD2 | Q9ULI1 | 430 |
IntAct
390 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DUSP29 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| DZIP1L | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| EIF1AD | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEPSIN | ZNF343 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM90A1 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| IL16 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| NEK6 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| NME7 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| TCEA2 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBASH3B | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| SORBS2 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZIC1 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLCNKA | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| CNTF | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| BCL2L15 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| ASAP3 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| CSNK2A1 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| TFAP2D | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| DUSP4 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| AATK | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDC23 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| LSM3 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| GRIPAP1 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| LGALS14 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| MED18 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM68 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSPB7 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| LENG1 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| NTAQ1 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| KHNYN | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (183): ENTHD2 (Affinity Capture-MS), HNRNPC (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), IMPDH2 (Affinity Capture-MS), TNPO1 (Affinity Capture-MS), LAMA2 (Affinity Capture-MS), RPL10 (Affinity Capture-MS), TNFAIP1 (Affinity Capture-MS), RBM10 (Affinity Capture-MS), BAP1 (Affinity Capture-MS), SLC25A11 (Affinity Capture-MS), AP4M1 (Affinity Capture-MS), SCAMP3 (Affinity Capture-MS), SF3A1 (Affinity Capture-MS), YME1L1 (Affinity Capture-MS)
ESM2 similar proteins: A0JNJ4, A1L443, A2APT9, A2IDD5, A6NDY0, A6NNL0, A7E321, B0BNE4, B1AL46, B1ASB6, E9PGG2, F5GYI3, G3V8Y7, O88286, Q14684, Q28165, Q3TYG6, Q3TYX8, Q3U3N6, Q49AM3, Q4V8C9, Q5R866, Q5RCJ6, Q5T7N3, Q5VT03, Q5VTJ3, Q5VZR2, Q5XFR0, Q60465, Q6ZMY3, Q6ZNE9, Q6ZUT6, Q6ZUX3, Q80VJ8, Q80VR2, Q86U42, Q8BSI6, Q8CCS6, Q8IVF1, Q8IY92
Diamond homologs: G3V8Y7, Q3U3N6, Q4V832, Q96N21, Q9C5H4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
24 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 8 |
| Likely benign | 6 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2215 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:81230674:GCCCT:G | acceptor_gain | 1.0000 |
| 17:81230675:CCCT:C | acceptor_gain | 1.0000 |
| 17:81230675:CCCTC:C | acceptor_gain | 1.0000 |
| 17:81230676:CCTC:C | acceptor_gain | 1.0000 |
| 17:81230677:CT:C | acceptor_gain | 1.0000 |
| 17:81230677:CTCTG:C | acceptor_loss | 1.0000 |
| 17:81230678:TCTG:T | acceptor_loss | 1.0000 |
| 17:81230679:C:CC | acceptor_gain | 1.0000 |
| 17:81230679:CTGCG:C | acceptor_loss | 1.0000 |
| 17:81230680:T:C | acceptor_loss | 1.0000 |
| 17:81231392:GCTCA:G | donor_loss | 1.0000 |
| 17:81231393:CTCA:C | donor_loss | 1.0000 |
| 17:81231394:TCA:T | donor_loss | 1.0000 |
| 17:81231395:CA:C | donor_loss | 1.0000 |
| 17:81231396:A:AC | donor_gain | 1.0000 |
| 17:81231397:C:CC | donor_gain | 1.0000 |
| 17:81231397:CCAG:C | donor_gain | 1.0000 |
| 17:81231473:ACACC:A | acceptor_loss | 1.0000 |
| 17:81231475:ACCTG:A | acceptor_loss | 1.0000 |
| 17:81231477:CTGC:C | acceptor_loss | 1.0000 |
| 17:81231478:T:A | acceptor_loss | 1.0000 |
| 17:81231574:TCAC:T | donor_loss | 1.0000 |
| 17:81231575:CA:C | donor_loss | 1.0000 |
| 17:81231576:A:AC | donor_gain | 1.0000 |
| 17:81231577:C:A | donor_loss | 1.0000 |
| 17:81231577:C:CT | donor_gain | 1.0000 |
| 17:81231577:CG:C | donor_gain | 1.0000 |
| 17:81231577:CGCT:C | donor_gain | 1.0000 |
| 17:81231577:CGCTT:C | donor_gain | 1.0000 |
| 17:81231687:CGACC:C | acceptor_gain | 1.0000 |
AlphaMissense
3808 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:81236797:A:G | L73P | 0.995 |
| 17:81237023:A:G | L57P | 0.995 |
| 17:81236980:C:A | K71N | 0.994 |
| 17:81236980:C:G | K71N | 0.994 |
| 17:81237035:A:G | L53P | 0.994 |
| 17:81237441:C:G | G23R | 0.994 |
| 17:81237441:C:T | G23R | 0.994 |
| 17:81231587:A:G | F269S | 0.993 |
| 17:81233997:A:T | V120D | 0.993 |
| 17:81236788:A:G | L76P | 0.992 |
| 17:81233986:C:G | A124P | 0.991 |
| 17:81237441:C:A | G23W | 0.991 |
| 17:81230553:C:A | K340N | 0.990 |
| 17:81230553:C:G | K340N | 0.990 |
| 17:81234018:C:A | G113V | 0.990 |
| 17:81237417:A:G | C31R | 0.990 |
| 17:81234018:C:T | G113E | 0.989 |
| 17:81237449:A:T | L20H | 0.989 |
| 17:81230677:C:A | R299M | 0.988 |
| 17:81233985:G:T | A124E | 0.988 |
| 17:81233989:C:G | A123P | 0.988 |
| 17:81230552:C:G | A341P | 0.987 |
| 17:81233994:C:G | R121P | 0.987 |
| 17:81234019:C:A | G113W | 0.987 |
| 17:81236743:A:G | L91P | 0.987 |
| 17:81237415:A:C | C31W | 0.987 |
| 17:81237440:C:T | G23E | 0.987 |
| 17:81230676:C:A | R299S | 0.986 |
| 17:81230676:C:G | R299S | 0.986 |
| 17:81231613:G:C | F260L | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000044596 (17:81235321 G>A,T), RS1000104182 (17:81235222 A>G), RS1000200703 (17:81239782 C>G,T), RS1000688124 (17:81238509 C>A,T), RS1001065340 (17:81230213 T>C), RS1001136864 (17:81230025 A>C,G), RS1001175024 (17:81227959 G>A,T), RS1001875768 (17:81234704 G>A), RS1001987458 (17:81239366 G>A), RS1002442907 (17:81239216 A>G,T), RS1002564426 (17:81240738 T>TA), RS1002804031 (17:81241008 G>C,T), RS1003353817 (17:81236594 C>A,T), RS1003479684 (17:81227966 A>G), RS1003616531 (17:81232625 C>T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002960_1 | Frontotemporal dementia | 1.000000e-07 |
| GCST002960_6 | Frontotemporal dementia | 7.000000e-06 |
| GCST002960_7 | Frontotemporal dementia | 8.000000e-07 |
| GCST002960_8 | Frontotemporal dementia | 4.000000e-06 |
| GCST009860_8 | IgG N-glycosylation phenotypes (multivariate analysis) | 1.000000e-15 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005193 | serum IgG glycosylation measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | increases expression, affects expression, increases abundance | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Naphthoquinones | increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Vitamin K 3 | affects expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SM06 | HAP1 ENTHD2 (-) 1 | Cancer cell line | Male |
| CVCL_SM07 | HAP1 ENTHD2 (-) 2 | Cancer cell line | Male |
| CVCL_SM08 | HAP1 ENTHD2 (-) 3 | Cancer cell line | Male |
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): frontotemporal dementia