SEC23IP
gene geneOn this page
Also known as p125iPLA1betaiPLA1βp125A
Summary
SEC23IP (SEC23 interacting protein, HGNC:17018) is a protein-coding gene on chromosome 10q26.11-q26.12, encoding SEC23-interacting protein (Q9Y6Y8). Plays a role in the organization of endoplasmic reticulum exit sites.
This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene.
Source: NCBI Gene 11196 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 171 total — 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_007190
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17018 |
| Approved symbol | SEC23IP |
| Name | SEC23 interacting protein |
| Location | 10q26.11-q26.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | p125, iPLA1beta, iPLA1β, p125A |
| Ensembl gene | ENSG00000107651 |
| Ensembl biotype | protein_coding |
| OMIM | 617852 |
| Entrez | 11196 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 21 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000369075, ENST00000442952, ENST00000446561, ENST00000462222, ENST00000470478, ENST00000475542, ENST00000483890, ENST00000705471, ENST00000875157, ENST00000875158, ENST00000875159, ENST00000875160, ENST00000875161, ENST00000875162, ENST00000875163, ENST00000923023, ENST00000923024, ENST00000923025, ENST00000923026, ENST00000923027, ENST00000923028, ENST00000923029, ENST00000923030, ENST00000970232, ENST00000970233
RefSeq mRNA: 2 — MANE Select: NM_007190
NM_001411070, NM_007190
CCDS: CCDS7618, CCDS91362
Canonical transcript exons
ENST00000369075 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000511982 | 119912044 | 119912164 |
| ENSE00000726413 | 119920889 | 119920984 |
| ENSE00000726417 | 119926036 | 119926227 |
| ENSE00000726423 | 119929607 | 119929762 |
| ENSE00000726429 | 119930329 | 119930431 |
| ENSE00000726508 | 119909041 | 119909130 |
| ENSE00000987866 | 119902799 | 119903009 |
| ENSE00000987867 | 119904084 | 119904277 |
| ENSE00000987868 | 119914730 | 119914819 |
| ENSE00000987870 | 119917836 | 119918044 |
| ENSE00000987871 | 119918393 | 119918511 |
| ENSE00001002555 | 119933686 | 119933787 |
| ENSE00001226973 | 119898427 | 119898959 |
| ENSE00001307651 | 119919444 | 119919596 |
| ENSE00003514349 | 119915748 | 119915889 |
| ENSE00003606659 | 119932133 | 119932318 |
| ENSE00003993586 | 119892730 | 119892945 |
| ENSE00003993587 | 119933005 | 119933167 |
| ENSE00003993588 | 119940586 | 119944657 |
Expression profiles
Bgee: expression breadth ubiquitous, 284 present calls, max score 95.28.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 45.3129 / max 217.6176, expressed in 1818 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 107355 | 44.0693 | 1818 |
| 107354 | 0.7364 | 404 |
| 107352 | 0.2593 | 100 |
| 107353 | 0.2480 | 98 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| colonic epithelium | UBERON:0000397 | 95.28 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.46 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.83 | gold quality |
| secondary oocyte | CL:0000655 | 92.19 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.76 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.00 | gold quality |
| monocyte | CL:0000576 | 89.95 | gold quality |
| mononuclear cell | CL:0000842 | 89.71 | gold quality |
| leukocyte | CL:0000738 | 89.49 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 89.28 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 89.27 | gold quality |
| oocyte | CL:0000023 | 89.18 | gold quality |
| cartilage tissue | UBERON:0002418 | 89.08 | gold quality |
| ventricular zone | UBERON:0003053 | 89.08 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.95 | gold quality |
| tonsil | UBERON:0002372 | 88.66 | gold quality |
| tibia | UBERON:0000979 | 88.31 | gold quality |
| rectum | UBERON:0001052 | 88.28 | gold quality |
| stomach | UBERON:0000945 | 88.27 | gold quality |
| gall bladder | UBERON:0002110 | 88.15 | gold quality |
| body of stomach | UBERON:0001161 | 88.03 | gold quality |
| pancreas | UBERON:0001264 | 88.00 | gold quality |
| bone marrow cell | CL:0002092 | 87.61 | gold quality |
| vermiform appendix | UBERON:0001154 | 87.61 | gold quality |
| corpus epididymis | UBERON:0004359 | 87.32 | gold quality |
| body of pancreas | UBERON:0001150 | 86.75 | gold quality |
| tibial artery | UBERON:0007610 | 86.63 | gold quality |
| popliteal artery | UBERON:0002250 | 86.62 | gold quality |
| colonic mucosa | UBERON:0000317 | 86.61 | gold quality |
| muscle of leg | UBERON:0001383 | 86.61 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 5)
- p125 is a mammalian-specific component of ER exit sites and participates in the organization of this compartment (PMID:15623529)
- Xenopus sec23ip is required for normal neural crest cell development, suggesting a role for the human ortholog in Waardenburg syndrome neural crest defects. (PMID:20308572)
- The results suggest that p125A is part of the Sec13/Sec31A subcomplex and facilitates ER export in mammalian cells. (PMID:20679433)
- A basic cluster and a hydrophobic interface in the DDHD and SAM domains, respectively, are required for p125A-mediated functional endoplasmic reticulum exit site assembly. (PMID:24522181)
- Sec23IP recruits VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formation. (PMID:39352497)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sec23ip | ENSDARG00000061413 |
| mus_musculus | Sec23ip | ENSMUSG00000055319 |
| rattus_norvegicus | Sec23ip | ENSRNOG00000020411 |
| drosophila_melanogaster | PAPLA1 | FBGN0031990 |
Paralogs (2): DDHD2 (ENSG00000085788), DDHD1 (ENSG00000100523)
Protein
Protein identifiers
SEC23-interacting protein — Q9Y6Y8 (reviewed: Q9Y6Y8)
Alternative names: p125
All UniProt accessions (4): Q9Y6Y8, A0A994J542, H7C0V8, H7C4C4
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the organization of endoplasmic reticulum exit sites. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P) and phosphatidylinositol 5-phosphate (PI(5)P).
Subunit / interactions. Interacts with SEC23A.
Subcellular location. Cytoplasmic vesicle. COPII-coated vesicle membrane. Endoplasmic reticulum.
Tissue specificity. Ubiquitously expressed with stronger levels detected in heart, liver and skeletal muscle.
Similarity. Belongs to the PA-PLA1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y6Y8-1 | 1 | yes |
| Q9Y6Y8-2 | 2 |
RefSeq proteins (2): NP_001397999, NP_009121* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001660 | SAM | Domain |
| IPR004170 | WWE_dom | Domain |
| IPR004177 | DDHD_dom | Domain |
| IPR013761 | SAM/pointed_sf | Homologous_superfamily |
| IPR037603 | SEC23IP_SAM | Domain |
| IPR057825 | WWE_SEC23-DDH2 | Domain |
| IPR058055 | PA-PLA1 | Family |
Pfam: PF00536, PF02825, PF02862, PF23464
UniProt features (15 total): region of interest 3, compositionally biased region 3, domain 2, modified residue 2, splice variant 2, chain 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y6Y8-F1 | 65.95 | 0.29 |
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): 926, 737
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-204005 | COPII-mediated vesicle transport |
| 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-948021 | Transport to the Golgi and subsequent modification |
MSigDB gene sets: 183 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_UP, ELVIDGE_HYPOXIA_DN, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, TGCGCANK_UNKNOWN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_MALE_GAMETE_GENERATION, REACTOME_MEMBRANE_TRAFFICKING, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOCC_COATED_VESICLE, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM
GO Biological Process (4): intracellular protein transport (GO:0006886), endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), Golgi organization (GO:0007030), endomembrane system organization (GO:0010256)
GO Molecular Function (4): RNA binding (GO:0003723), glycerophospholipase activity (GO:0004620), metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (9): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), Golgi apparatus (GO:0005794), cytosol (GO:0005829), ER to Golgi transport vesicle membrane (GO:0012507), COPII-coated ER to Golgi transport vesicle (GO:0030134), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| ER to Golgi Anterograde Transport | 1 |
| Membrane Trafficking | 1 |
| Transport to the Golgi and subsequent modification | 1 |
| Vesicle-mediated transport | 1 |
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
| Asparagine N-linked glycosylation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 6 |
| cellular anatomical structure | 3 |
| intracellular membrane-bounded organelle | 3 |
| intracellular transport | 2 |
| endomembrane system | 2 |
| intracellular protein localization | 1 |
| protein transport | 1 |
| intercellular transport | 1 |
| Golgi vesicle transport | 1 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| cellular component organization | 1 |
| nucleic acid binding | 1 |
| phospholipase activity | 1 |
| cation binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| COPII-coated ER to Golgi transport vesicle | 1 |
| transport vesicle membrane | 1 |
| coated vesicle membrane | 1 |
| coated vesicle | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
1960 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SEC23IP | SEC24B | O95487 | 707 |
| SEC23IP | SEC24A | O95486 | 607 |
| SEC23IP | SEC23A | Q15436 | 585 |
| SEC23IP | SEC13 | P55735 | 548 |
| SEC23IP | COPB1 | P53618 | 530 |
| SEC23IP | ZNF668 | Q96K58 | 529 |
| SEC23IP | ARCN1 | P48444 | 527 |
| SEC23IP | SEC16A | O15027 | 506 |
| SEC23IP | SCFD1 | Q8WVM8 | 494 |
| SEC23IP | SEC31A | O94979 | 491 |
| SEC23IP | WWOX | Q9NZC7 | 479 |
| SEC23IP | COPB2 | P35606 | 458 |
| SEC23IP | H7C0V5 | H7C0V5 | 453 |
| SEC23IP | NT5DC1 | Q5TFE4 | 451 |
| SEC23IP | SEC22B | O75396 | 446 |
IntAct
105 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SEC23B | SEC24D | psi-mi:“MI:0914”(association) | 0.920 |
| PDCD6 | SEC31A | psi-mi:“MI:0403”(colocalization) | 0.740 |
| PDCD6 | SEC31A | psi-mi:“MI:0914”(association) | 0.740 |
| SEC31A | SEC13 | psi-mi:“MI:0914”(association) | 0.730 |
| SSC5D | SEC23IP | psi-mi:“MI:0915”(physical association) | 0.720 |
| SEC23IP | SSC5D | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| SEC23A | SEC23IP | psi-mi:“MI:0915”(physical association) | 0.670 |
| TRIM32 | SEC23IP | psi-mi:“MI:0915”(physical association) | 0.660 |
| SEC13 | SEC16A | psi-mi:“MI:0914”(association) | 0.640 |
| PDCD6 | SEC23IP | psi-mi:“MI:0403”(colocalization) | 0.580 |
| IFT25 | SEC23IP | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC23IP | IFT25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YIF1A | SEC23IP | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC31A1 | C2orf72 | psi-mi:“MI:0914”(association) | 0.530 |
| SEC23B | SEC16A | psi-mi:“MI:0914”(association) | 0.530 |
| DDHD2 | CHI3L1 | psi-mi:“MI:0914”(association) | 0.530 |
| SEC31A | NOP14 | psi-mi:“MI:0914”(association) | 0.530 |
| ANKRD22 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM32 | TRPC4AP | psi-mi:“MI:0914”(association) | 0.510 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| DNAJC16 | SEC23IP | psi-mi:“MI:0915”(physical association) | 0.400 |
| AGPS | psi-mi:“MI:0915”(physical association) | 0.400 | |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (312): HSPB11 (Two-hybrid), SSC5D (Two-hybrid), SEC23IP (Affinity Capture-MS), SEC23IP (Affinity Capture-MS), SEC23IP (Affinity Capture-MS), HSPA4 (Co-fractionation), NCBP1 (Co-fractionation), SEC23IP (Affinity Capture-MS), SEC23IP (Proximity Label-MS), SEC23IP (Proximity Label-MS), SEC23IP (Proximity Label-MS), SEC23IP (Proximity Label-MS), SEC23IP (Proximity Label-MS), SEC23IP (Affinity Capture-MS), SEC23IP (Affinity Capture-MS)
ESM2 similar proteins: A3KMI0, A3KQS4, A5PF44, A6QP16, A8E7C5, B1H2Q2, F4HZF0, O15226, O96838, P34550, Q09874, Q29FC1, Q2KI23, Q2KJ22, Q3SWY8, Q3T9Z9, Q3V0G7, Q4R4A2, Q5BJQ2, Q5R7G8, Q5U2S3, Q5VVW2, Q5XHY7, Q61502, Q6NZC7, Q6P158, Q6P5D3, Q6PDI6, Q6PGC1, Q75E61, Q76LS9, Q7M760, Q7TSI3, Q7XI08, Q7Z478, Q8C437, Q8GY87, Q8H106, Q8N5J2, Q8NBR6
Diamond homologs: O94830, Q495M9, Q6NZC7, Q80T11, Q80Y98, Q80YA3, Q8K3X6, Q8N8V4, Q9Y6Y8, Q12204, Q6ZPQ6, Q9BZ72, O14593, Q3KP44, Q8BLD6, Q9Z205, O00562, O35954, P43125, Q3UHE1, Q5U2N3, Q9BZ71
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SEC23IP | “down-regulates quantity” | “phosphatidic acid” | “chemical modification” |
| SEC23IP | “up-regulates quantity” | “long-chain fatty acid anion” | “chemical modification” |
| SEC23IP | “up-regulates quantity” | “1-acyl-sn-glycerol 3-phosphate” | “chemical modification” |
| SEC23IP | “up-regulates activity” | SEC23B | binding |
| SEC23IP | “up-regulates activity” | SEC23A | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 114 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 |
|---|---|---|---|
| COPII-mediated vesicle transport | 8 | 17.2× | 1e-05 |
| ER to Golgi Anterograde Transport | 7 | 12.2× | 2e-04 |
| Transport to the Golgi and subsequent modification | 7 | 9.5× | 9e-04 |
| Asparagine N-linked glycosylation | 8 | 6.3× | 3e-03 |
| Vesicle-mediated transport | 13 | 6.0× | 6e-05 |
| Membrane Trafficking | 12 | 5.8× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| COPII-coated vesicle cargo loading | 5 | 51.6× | 2e-05 |
| endoplasmic reticulum to Golgi vesicle-mediated transport | 8 | 11.3× | 2e-04 |
| cell surface receptor protein tyrosine kinase signaling pathway | 6 | 10.9× | 5e-03 |
| positive regulation of MAPK cascade | 8 | 6.7× | 5e-03 |
| cilium assembly | 8 | 6.1× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
171 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 122 |
| Likely benign | 12 |
| Benign | 13 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 148437 | GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3 | Likely pathogenic |
SpliceAI
3274 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:119892943:G:GT | donor_gain | 1.0000 |
| 10:119904082:A:AG | acceptor_gain | 1.0000 |
| 10:119904083:G:GA | acceptor_gain | 1.0000 |
| 10:119909035:TTATA:T | acceptor_loss | 1.0000 |
| 10:119909036:TATA:T | acceptor_loss | 1.0000 |
| 10:119909037:ATAGG:A | acceptor_loss | 1.0000 |
| 10:119909038:TAG:T | acceptor_loss | 1.0000 |
| 10:119912035:A:AG | acceptor_gain | 1.0000 |
| 10:119912035:ATCTT:A | acceptor_gain | 1.0000 |
| 10:119912036:T:G | acceptor_gain | 1.0000 |
| 10:119914815:GTGTG:G | donor_gain | 1.0000 |
| 10:119915746:A:AG | acceptor_gain | 1.0000 |
| 10:119915747:G:GG | acceptor_gain | 1.0000 |
| 10:119915816:A:T | donor_gain | 1.0000 |
| 10:119915819:G:GG | donor_gain | 1.0000 |
| 10:119918015:G:GT | donor_gain | 1.0000 |
| 10:119918015:G:T | donor_gain | 1.0000 |
| 10:119918042:TAGGT:T | donor_loss | 1.0000 |
| 10:119918045:G:GA | donor_loss | 1.0000 |
| 10:119918390:T:G | acceptor_gain | 1.0000 |
| 10:119918390:TAGGT:T | acceptor_loss | 1.0000 |
| 10:119918391:A:AG | acceptor_gain | 1.0000 |
| 10:119918391:A:AT | acceptor_loss | 1.0000 |
| 10:119918392:G:GG | acceptor_gain | 1.0000 |
| 10:119918392:GGTT:G | acceptor_gain | 1.0000 |
| 10:119918508:GCAG:G | donor_gain | 1.0000 |
| 10:119918511:GGT:G | donor_loss | 1.0000 |
| 10:119918512:G:GC | donor_loss | 1.0000 |
| 10:119918512:G:GG | donor_gain | 1.0000 |
| 10:119919440:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
6561 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:119904209:T:A | W345R | 1.000 |
| 10:119904209:T:C | W345R | 1.000 |
| 10:119904246:C:A | P357H | 1.000 |
| 10:119904273:T:C | L366P | 1.000 |
| 10:119909074:T:A | W379R | 1.000 |
| 10:119909074:T:C | W379R | 1.000 |
| 10:119909114:T:A | V392D | 1.000 |
| 10:119912051:T:A | V400D | 1.000 |
| 10:119912128:C:A | R426S | 1.000 |
| 10:119932136:T:C | L859S | 1.000 |
| 10:119902919:T:A | W273R | 0.999 |
| 10:119902919:T:C | W273R | 0.999 |
| 10:119902955:T:A | W285R | 0.999 |
| 10:119902955:T:C | W285R | 0.999 |
| 10:119904205:T:G | C343W | 0.999 |
| 10:119904211:G:C | W345C | 0.999 |
| 10:119904211:G:T | W345C | 0.999 |
| 10:119904246:C:G | P357R | 0.999 |
| 10:119904248:T:G | Y358D | 0.999 |
| 10:119909047:T:G | Y370D | 0.999 |
| 10:119909076:G:C | W379C | 0.999 |
| 10:119909076:G:T | W379C | 0.999 |
| 10:119909111:T:A | I391N | 0.999 |
| 10:119909119:C:G | H394D | 0.999 |
| 10:119909121:C:A | H394Q | 0.999 |
| 10:119909121:C:G | H394Q | 0.999 |
| 10:119912056:T:C | F402L | 0.999 |
| 10:119912057:T:C | F402S | 0.999 |
| 10:119912058:C:A | F402L | 0.999 |
| 10:119912058:C:G | F402L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000126009 (10:119911250 T>A,C), RS1000126570 (10:119898665 A>G,T), RS1000136264 (10:119906065 C>T), RS1000157043 (10:119910987 CCTT>C), RS1000192398 (10:119923042 T>A), RS1000284914 (10:119929206 T>C), RS1000387083 (10:119916556 T>C), RS1000401225 (10:119928878 G>A), RS1000436244 (10:119935628 A>G), RS1000490376 (10:119909592 A>G), RS1000627815 (10:119922764 A>C,G), RS1000655154 (10:119916481 A>G), RS1000684975 (10:119916234 C>G,T), RS1000903971 (10:119939894 C>T), RS1000991560 (10:119921907 T>C)
Disease associations
OMIM: gene MIM:617852 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002541_80 | Menarche (age at onset) | 3.000000e-10 |
| GCST003134_13 | Cerebrospinal fluid clusterin levels | 5.000000e-06 |
| GCST010242_107 | HDL cholesterol levels | 2.000000e-08 |
| GCST90000025_181 | Appendicular lean mass | 1.000000e-10 |
| GCST90002396_497 | Mean reticulocyte volume | 2.000000e-11 |
| GCST90002397_554 | Mean spheric corpuscular volume | 6.000000e-11 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004703 | age at menarche |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004980 | appendicular lean mass |
| EFO:0010701 | mean reticulocyte volume |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066475 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.12 | Kd | 75.3 | nM | CHEMBL5653589 |
| 7.12 | ED50 | 75.3 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 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 | 2149365: Binding affinity to human SEC23IP incubated for 45 mins by Kinobead based pull down assay | kd | 0.0753 | uM |
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression | 2 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| testosterone enanthate | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, increases expression | 1 |
| methylparaben | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| K 7174 | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Furaldehyde | affects cotreatment, affects localization, decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Nickel | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652407 | Binding | Binding affinity to human SEC23IP incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TK41 | HAP1 SEC23IP (-) 1 | Cancer cell line | Male |
| CVCL_TK42 | HAP1 SEC23IP (-) 2 | Cancer cell line | Male |
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.