SEC22B
gene geneOn this page
Also known as ERS-24
Summary
SEC22B (SEC22 homolog B, vesicle trafficking protein, HGNC:10700) is a protein-coding gene on chromosome 1p12, encoding Vesicle-trafficking protein SEC22b (O75396). SNARE involved in targeting and fusion of ER-derived transport vesicles with the Golgi complex as well as Golgi-derived retrograde transport vesicles with the ER. It is a common-essential gene (DepMap: required in 97.3% of cancer cell lines).
The protein encoded by this gene is a member of the SEC22 family of vesicle trafficking proteins. It seems to complex with SNARE and it is thought to play a role in the ER-Golgi protein trafficking. This protein has strong similarity to Mus musculus and Cricetulus griseus proteins.
Source: NCBI Gene 9554 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 97.3% of screened cell lines (common-essential)
- MANE Select transcript:
NM_004892
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10700 |
| Approved symbol | SEC22B |
| Name | SEC22 homolog B, vesicle trafficking protein |
| Location | 1p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ERS-24 |
| Ensembl gene | ENSG00000265808 |
| Ensembl biotype | protein_coding |
| OMIM | 604029 |
| Entrez | 9554 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000578049, ENST00000618538, ENST00000875746, ENST00000932119, ENST00000943846
RefSeq mRNA: 1 — MANE Select: NM_004892
NM_004892
CCDS: CCDS83523
Canonical transcript exons
ENST00000578049 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002687444 | 120163210 | 120163370 |
| ENSE00002708696 | 120168840 | 120168949 |
| ENSE00002722905 | 120160384 | 120160530 |
| ENSE00002727263 | 120176307 | 120176520 |
| ENSE00002732617 | 120150898 | 120157192 |
Expression profiles
Bgee: expression breadth ubiquitous, 204 present calls, max score 93.49.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 128.2116 / max 1469.1791, expressed in 1827 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 14106 | 112.8231 | 1827 |
| 14105 | 7.0924 | 1680 |
| 14104 | 4.6620 | 1581 |
| 14103 | 3.2605 | 1503 |
| 14102 | 0.3736 | 173 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 93.49 | gold quality |
| body of pancreas | UBERON:0001150 | 91.86 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.64 | gold quality |
| stromal cell of endometrium | CL:0002255 | 91.47 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.23 | gold quality |
| colonic epithelium | UBERON:0000397 | 90.98 | gold quality |
| pancreas | UBERON:0001264 | 90.28 | gold quality |
| rectum | UBERON:0001052 | 90.06 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.04 | gold quality |
| monocyte | CL:0000576 | 89.79 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.76 | gold quality |
| leukocyte | CL:0000738 | 89.64 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 89.59 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 89.55 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 89.42 | gold quality |
| right adrenal gland | UBERON:0001233 | 89.32 | gold quality |
| thoracic aorta | UBERON:0001515 | 89.12 | gold quality |
| ascending aorta | UBERON:0001496 | 89.09 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 89.06 | gold quality |
| endocervix | UBERON:0000458 | 89.02 | gold quality |
| right coronary artery | UBERON:0001625 | 88.96 | gold quality |
| pituitary gland | UBERON:0000007 | 88.83 | gold quality |
| bone marrow cell | CL:0002092 | 88.78 | gold quality |
| right lobe of liver | UBERON:0001114 | 88.72 | gold quality |
| vermiform appendix | UBERON:0001154 | 88.70 | gold quality |
| left coronary artery | UBERON:0001626 | 88.69 | gold quality |
| tibial artery | UBERON:0007610 | 88.54 | gold quality |
| aorta | UBERON:0000947 | 88.53 | gold quality |
| popliteal artery | UBERON:0002250 | 88.53 | gold quality |
| right lung | UBERON:0002167 | 88.40 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-86618 | no | 916.83 |
| E-MTAB-7303 | no | 452.51 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
135 targeting SEC22B, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 97.3% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 7)
- DrrA activation of the Rab1 GTPase on plasma membrane-derived organelles stimulated the tethering of endoplasmic reticulum-derived vesicles, resulting in vesicle fusion through the pairing of Sec22b with the plasma membrane syntaxin proteins. (PMID:22264512)
- Suggest that close apposition of the ER and plasma membrane mediated by Sec22b and plasma membrane syntaxins generates a non-fusogenic SNARE bridge contributing to plasma membrane expansion, probably through non-vesicular lipid transfer. (PMID:24705552)
- the target gene SEC22B regulated by miRNA-206 may play a key role in the progression and development of AD. (PMID:26082458)
- The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte alpha-granule biogenesis. (PMID:32384141)
- The function of SEC22B and its role in human diseases. (PMID:32748571)
- Extended-synaptotagmin 1 engages in unconventional protein secretion mediated via SEC22B(+) vesicle pathway in liver cancer. (PMID:36044553)
- SEC22B inhibition attenuates colorectal cancer aggressiveness and autophagic flux under unfavorable environment. (PMID:37148741)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sec22ba | ENSDARG00000030108 |
| danio_rerio | sec22bb | ENSDARG00000100435 |
| mus_musculus | Sec22b | ENSMUSG00000027879 |
| rattus_norvegicus | Sec22b | ENSRNOG00000018673 |
| drosophila_melanogaster | Sec22 | FBGN0260855 |
| caenorhabditis_elegans | WBGENE00018853 |
Paralogs (10): VAMP3 (ENSG00000049245), SEC22C (ENSG00000093183), YKT6 (ENSG00000106636), VAMP4 (ENSG00000117533), VAMP8 (ENSG00000118640), SEC22A (ENSG00000121542), VAMP7 (ENSG00000124333), VAMP1 (ENSG00000139190), VAMP5 (ENSG00000168899), VAMP2 (ENSG00000220205)
Protein
Protein identifiers
Vesicle-trafficking protein SEC22b — O75396 (reviewed: O75396)
Alternative names: ER-Golgi SNARE of 24 kDa, SEC22 vesicle-trafficking protein homolog B, SEC22 vesicle-trafficking protein-like 1
All UniProt accessions (2): O75396, A0A087X1A9
UniProt curated annotations — full annotation on UniProt →
Function. SNARE involved in targeting and fusion of ER-derived transport vesicles with the Golgi complex as well as Golgi-derived retrograde transport vesicles with the ER.
Subunit / interactions. Interacts with STX17. Component of two distinct SNARE complexes consisting of STX5, GOSR2/BOS1, BET1 and SEC22B or STX18, USE1L, BNIP1/SEC20L and SEC22B. YKT6 can probably replace SEC22B in either complex. Interacts with the COPII Sec23/24 complex composed of SEC23A and SEC24A; recruits SEC22B into COPII-coated vesicles to allow its transport from the endoplasmic reticulum to the Golgi. Interacts with BET1.
Subcellular location. Endoplasmic reticulum membrane. Endoplasmic reticulum-Golgi intermediate compartment membrane. Golgi apparatus. cis-Golgi network membrane. trans-Golgi network membrane. Melanosome.
Similarity. Belongs to the synaptobrevin family.
RefSeq proteins (1): NP_004883* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001388 | Synaptobrevin-like | Family |
| IPR010908 | Longin_dom | Domain |
| IPR011012 | Longin-like_dom_sf | Homologous_superfamily |
| IPR042855 | V_SNARE_CC | Domain |
| IPR044565 | Sec22 | Family |
Pfam: PF00957, PF13774
UniProt features (30 total): modified residue 7, strand 7, turn 5, helix 5, domain 2, initiator methionine 1, chain 1, topological domain 1, transmembrane region 1
Structure
Experimental structures (PDB)
9 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2NUT | X-RAY DIFFRACTION | 2.3 |
| 9UVG | X-RAY DIFFRACTION | 2.54 |
| 9UVE | X-RAY DIFFRACTION | 2.6 |
| 3EGD | X-RAY DIFFRACTION | 2.7 |
| 2NUP | X-RAY DIFFRACTION | 2.8 |
| 9UVD | X-RAY DIFFRACTION | 2.98 |
| 9UVF | X-RAY DIFFRACTION | 3.15 |
| 3EGX | X-RAY DIFFRACTION | 3.3 |
| 8HR0 | X-RAY DIFFRACTION | 3.34 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75396-F1 | 83.66 | 0.44 |
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): 168, 174, 177, 38, 137, 140, 164
Function
Pathways and Gene Ontology
Reactome pathways
17 pathways
| ID | Pathway |
|---|---|
| R-HSA-1236974 | ER-Phagosome pathway |
| R-HSA-204005 | COPII-mediated vesicle transport |
| R-HSA-5694530 | Cargo concentration in the ER |
| R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic |
| R-HSA-1236975 | Antigen processing-Cross presentation |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-199977 | ER to Golgi Anterograde Transport |
| R-HSA-199991 | Membrane Trafficking |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-446203 | Asparagine N-linked glycosylation |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
| R-HSA-8856688 | Golgi-to-ER retrograde transport |
| R-HSA-948021 | Transport to the Golgi and subsequent modification |
| R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
MSigDB gene sets: 253 (showing top):
GOBP_REGULATION_OF_AUTOPHAGY, GOBP_VACUOLE_ORGANIZATION, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, GOCC_VACUOLAR_MEMBRANE, GOBP_VESICLE_ORGANIZATION, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_MEMBRANE_FUSION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_VACUOLE_ORGANIZATION, REACTOME_MEMBRANE_TRAFFICKING, MODULE_16, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS
GO Biological Process (7): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (GO:0006890), protein transport (GO:0015031), positive regulation of protein catabolic process (GO:0045732), negative regulation of autophagosome assembly (GO:1902902), vesicle-mediated transport (GO:0016192), membrane fusion (GO:0061025)
GO Molecular Function (2): SNAP receptor activity (GO:0005484), protein binding (GO:0005515)
GO Cellular Component (13): Golgi membrane (GO:0000139), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), ER to Golgi transport vesicle membrane (GO:0012507), transport vesicle (GO:0030133), phagocytic vesicle membrane (GO:0030670), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), melanosome (GO:0042470), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), endomembrane system (GO:0012505), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-13 pathways:
| Category | Pathways |
|---|---|
| ER to Golgi Anterograde Transport | 2 |
| Membrane Trafficking | 2 |
| Antigen processing-Cross presentation | 1 |
| Golgi-to-ER retrograde transport | 1 |
| Class I MHC mediated antigen processing & presentation | 1 |
| Immune System | 1 |
| Transport to the Golgi and subsequent modification | 1 |
| Vesicle-mediated transport | 1 |
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
| Intra-Golgi and retrograde Golgi-to-ER traffic | 1 |
| Asparagine N-linked glycosylation | 1 |
| Adaptive Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 4 |
| intracellular membrane-bounded organelle | 3 |
| endomembrane system | 3 |
| cellular anatomical structure | 3 |
| Golgi vesicle transport | 2 |
| transport | 2 |
| bounding membrane of organelle | 2 |
| intercellular transport | 1 |
| intracellular transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| positive regulation of catabolic process | 1 |
| protein catabolic process | 1 |
| regulation of protein catabolic process | 1 |
| positive regulation of protein metabolic process | 1 |
| autophagosome assembly | 1 |
| negative regulation of macroautophagy | 1 |
| negative regulation of organelle assembly | 1 |
| regulation of autophagosome assembly | 1 |
| cellular process | 1 |
| membrane organization | 1 |
| protein-macromolecule adaptor activity | 1 |
| membrane fusion | 1 |
| fusogenic activity | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| COPII-coated ER to Golgi transport vesicle | 1 |
| transport vesicle membrane | 1 |
| coated vesicle membrane | 1 |
| cytoplasmic vesicle | 1 |
| endocytic vesicle membrane | 1 |
| phagocytic vesicle | 1 |
| endoplasmic reticulum-Golgi intermediate compartment | 1 |
| pigment granule | 1 |
| intracellular anatomical structure | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
1898 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SEC22B | GOSR2 | O14653 | 999 |
| SEC22B | STX5 | Q13190 | 997 |
| SEC22B | BET1 | O15155 | 996 |
| SEC22B | STX4 | Q12846 | 990 |
| SEC22B | STX18 | Q9P2W9 | 977 |
| SEC22B | GOSR1 | O95249 | 961 |
| SEC22B | YKT6 | O15498 | 953 |
| SEC22B | SCFD1 | Q8WVM8 | 948 |
| SEC22B | SNAP23 | O00161 | 944 |
| SEC22B | TRIM16 | O95361 | 937 |
| SEC22B | STX3 | Q13277 | 918 |
| SEC22B | USE1 | Q9NZ43 | 908 |
| SEC22B | TRAPPC2 | P0DI81 | 899 |
| SEC22B | VTI1B | Q9UEU0 | 882 |
| SEC22B | VAMP7 | P51809 | 863 |
IntAct
344 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STX18 | SEC22B | psi-mi:“MI:0915”(physical association) | 0.820 |
| STX18 | NBAS | psi-mi:“MI:0914”(association) | 0.810 |
| SEC22B | STX4 | psi-mi:“MI:0915”(physical association) | 0.680 |
| SEC22B | MFSD5 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SEC22B | CD79A | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | HSD17B13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | LHFPL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | JAGN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | GJA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | STX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | STX1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | MFF | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | CREB3L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | HSD17B11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | DPM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | psi-mi:“MI:0915”(physical association) | 0.560 | |
| SEC22B | IFNGR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | TM4SF19 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | MMGT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | GJB5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | RELL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | ERGIC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | GPX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC22B | TMEM167B | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (537): SEC22B (Affinity Capture-MS), SEC22B (Affinity Capture-MS), SEC22B (Affinity Capture-MS), SEC22B (Affinity Capture-MS), SEC22B (Affinity Capture-MS), SEC22B (Affinity Capture-MS), SEC22B (Affinity Capture-MS), STX5 (Two-hybrid), STX1A (Two-hybrid), SEC22B (Proximity Label-MS), SEC22B (Proximity Label-MS), SEC22B (Proximity Label-MS), SEC22B (Proximity Label-MS), SEC22B (Two-hybrid), SEC22B (Affinity Capture-MS)
ESM2 similar proteins: A8WVD0, O08547, O08595, O15498, O16000, O60073, O74824, O75396, P22214, P36015, P47192, P48612, Q16932, Q24547, Q32N70, Q3T000, Q4KM74, Q58DV0, Q5EGY4, Q5RAI9, Q5RCE3, Q5TX47, Q5XIP1, Q5ZJW4, Q5ZK01, Q6BSL0, Q6C537, Q6C880, Q6CJA0, Q6CSA2, Q6DDU7, Q6FW27, Q6FWT0, Q6P7L4, Q6P816, Q74ZD2, Q757A4, Q7SXP0, Q7ZUN8, Q7ZV15
Diamond homologs: O08547, O08595, O75396, P22214, Q4KM74, Q4R866, Q5RAI9, Q5ZJW4, Q642F4, Q6C880, Q6CJA0, Q6FWT0, Q6P7L4, Q74ZD2, Q7SXP0, Q7ZV15, Q8BH47, Q8BXT9, Q94AU2, Q96IW7, Q9BRL7, Q9Y7L0, O70404, Q3T0Y8, Q5REQ5, Q9BV40, Q9WUF4, Q2YDJ2, O60073, P36015, Q6FW27, Q3T000
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| “CHEVI complex” | “up-regulates activity” | SEC22B | relocalization |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 127 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 |
|---|---|---|---|
| Membrane Trafficking | 10 | 5.6× | 3e-03 |
| Vesicle-mediated transport | 10 | 5.3× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 5 | 16.7× | 3e-03 |
| endoplasmic reticulum to Golgi vesicle-mediated transport | 8 | 10.8× | 5e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
0 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
1398 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1048141 (1:120156120 T>G), RS1048143 (1:120156112 G>C), RS10737761 (1:120150479 C>A,T), RS10797289 (1:120153694 G>A,C), RS10923956 (1:120150540 T>G), RS111256146 (1:120178255 C>A), RS111388320 (1:120178175 T>A), RS111469374 (1:120151841 T>A,C), RS111497322 (1:120178080 C>A,T), RS112272410 (1:120177218 A>G,T), RS112398854 (1:120177741 C>T), RS112898568 (1:120152130 C>A), RS112972311 (1:120177313 G>T), RS113015484 (1:120177093 C>G), RS113190980 (1:120150635 G>A,C,T)
Disease associations
OMIM: gene MIM:604029 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007743_35 | Iris color (L* coordinate) | 4.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009764 | eye colour measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295679 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 3 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.48 | Kd | 3321 | nM | CHEMBL5653589 |
| 5.48 | ED50 | 3321 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 5 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149362: Binding affinity to human SEC22B incubated for 45 mins by Kinobead based pull down assay | kd | 3.3213 | uM |
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 4 |
| bisphenol F | increases expression, affects cotreatment | 2 |
| bisphenol A | increases expression | 2 |
| Arsenic | affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| Cyclosporine | increases expression, increases methylation | 2 |
| Cadmium Chloride | increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| 1-UFT protocol | decreases response to substance | 1 |
| pinosylvin | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| bisphenol B | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| pentabrominated diphenyl ether 100 | increases expression | 1 |
| LDN 193189 | increases expression, affects cotreatment | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diethylstilbestrol | increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4119052 | Binding | Binding affinity to SEC22B in human NCI-H358 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
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.