SCAMP2
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Summary
SCAMP2 (secretory carrier membrane protein 2, HGNC:10564) is a protein-coding gene on chromosome 15q24.1, encoding Secretory carrier-associated membrane protein 2 (O15127). Functions in post-Golgi recycling pathways.
This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. Alternate splicing results in multiple transcript variants.
Source: NCBI Gene 10066 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 64 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_005697
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10564 |
| Approved symbol | SCAMP2 |
| Name | secretory carrier membrane protein 2 |
| Location | 15q24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000140497 |
| Ensembl biotype | protein_coding |
| OMIM | 606912 |
| Entrez | 10066 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 13 protein_coding, 5 retained_intron, 2 nonsense_mediated_decay
ENST00000268099, ENST00000562363, ENST00000563663, ENST00000563829, ENST00000564529, ENST00000565345, ENST00000566480, ENST00000566557, ENST00000567638, ENST00000569124, ENST00000569251, ENST00000569904, ENST00000894364, ENST00000894365, ENST00000894366, ENST00000894367, ENST00000894368, ENST00000894369, ENST00000894370, ENST00000960462
RefSeq mRNA: 2 — MANE Select: NM_005697
NM_001320778, NM_005697
CCDS: CCDS10271
Canonical transcript exons
ENST00000268099 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001320465 | 74843730 | 74845217 |
| ENSE00003466413 | 74854021 | 74854119 |
| ENSE00003467083 | 74873199 | 74873365 |
| ENSE00003489132 | 74852069 | 74852186 |
| ENSE00003529342 | 74845473 | 74845593 |
| ENSE00003570128 | 74850514 | 74850673 |
| ENSE00003626704 | 74854581 | 74854649 |
| ENSE00003648570 | 74848600 | 74848701 |
| ENSE00003684480 | 74851353 | 74851481 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 97.65.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 89.8819 / max 353.0673, expressed in 1821 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 150935 | 89.8819 | 1821 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| rectum | UBERON:0001052 | 97.65 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.64 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.43 | gold quality |
| granulocyte | CL:0000094 | 97.03 | gold quality |
| esophagus mucosa | UBERON:0002469 | 96.57 | gold quality |
| transverse colon | UBERON:0001157 | 96.51 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.40 | gold quality |
| minor salivary gland | UBERON:0001830 | 96.38 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 96.26 | gold quality |
| ileal mucosa | UBERON:0000331 | 96.12 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 95.93 | gold quality |
| lymph node | UBERON:0000029 | 95.87 | gold quality |
| body of stomach | UBERON:0001161 | 95.83 | gold quality |
| right lung | UBERON:0002167 | 95.74 | gold quality |
| mouth mucosa | UBERON:0003729 | 95.69 | gold quality |
| gall bladder | UBERON:0002110 | 95.62 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 95.61 | gold quality |
| skin of leg | UBERON:0001511 | 95.59 | gold quality |
| esophagus | UBERON:0001043 | 95.51 | gold quality |
| spleen | UBERON:0002106 | 95.50 | gold quality |
| small intestine | UBERON:0002108 | 95.41 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.30 | gold quality |
| upper lobe of lung | UBERON:0008948 | 95.25 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 95.19 | gold quality |
| skin of abdomen | UBERON:0001416 | 95.17 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 95.17 | gold quality |
| right testis | UBERON:0004534 | 95.09 | gold quality |
| left testis | UBERON:0004533 | 95.06 | gold quality |
| leukocyte | CL:0000738 | 95.05 | gold quality |
| left adrenal gland | UBERON:0001234 | 95.03 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 12.97 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
76 targeting SCAMP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
Literature-anchored findings (GeneRIF, showing 5)
- SCAMP2 plays an important role in the regulation of the subcellular distribution of SERT (PMID:16870614)
- The strong correlation between SCAMP2 E interactions with PIP2 and inhibition of exocytosis, particularly by SC2-R204A, led us to propose that SCAMP2 interaction with PIP2 within the membrane interface regulates fusion pore formation during exocytosis. (PMID:17713930)
- SCAMP2 regulates NHE5 transit through recycling endosomes and promotes its surface targeting in an Arf6-dependent manner. (PMID:19276089)
- this finding that SCAMP2 interacts with and regulates the subcellular distribution of both DAT and SERT suggests that interaction with SCAMP2 may constitute an important mechanism for coordinating cell surface expression of monoamine transporters. (PMID:21295544)
- SCAMP2/5 as diagnostic and prognostic markers for acute myeloid leukemia. (PMID:34426610)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | scamp2 | ENSDARG00000010279 |
| danio_rerio | scamp2l | ENSDARG00000017010 |
| mus_musculus | Scamp2 | ENSMUSG00000040188 |
| rattus_norvegicus | Scamp2 | ENSRNOG00000019136 |
| drosophila_melanogaster | Scamp | FBGN0040285 |
| caenorhabditis_elegans | scm-1 | WBGENE00004743 |
Paralogs (4): SCAMP1 (ENSG00000085365), SCAMP3 (ENSG00000116521), SCAMP5 (ENSG00000198794), SCAMP4 (ENSG00000227500)
Protein
Protein identifiers
Secretory carrier-associated membrane protein 2 — O15127 (reviewed: O15127)
All UniProt accessions (8): A0A140VK92, O15127, H3BMN2, H3BN93, H3BPL9, H3BQW2, H3BUB6, H3BV04
UniProt curated annotations — full annotation on UniProt →
Function. Functions in post-Golgi recycling pathways. Acts as a recycling carrier to the cell surface.
Subunit / interactions. Interacts with SLC6A4 and SLC9A7. Interacts with SLC9A5; this interaction regulates SLC9A5 cell-surface targeting and SLC9A5 activity.
Subcellular location. Golgi apparatus. trans-Golgi network membrane. Recycling endosome membrane.
Tissue specificity. Widely expressed.
Similarity. Belongs to the SCAMP family.
RefSeq proteins (2): NP_001307707, NP_005688* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007273 | SCAMP | Family |
Pfam: PF04144
UniProt features (15 total): topological domain 5, transmembrane region 4, region of interest 3, modified residue 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O15127-F1 | 77.30 | 0.47 |
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): 319, 320
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 185 (showing top):
TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_VESICLE_MEDIATED_TRANSPORT, GTGCCTT_MIR506, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, GOBP_EXOCYTOSIS, RICKMAN_METASTASIS_DN, GOCC_TRANS_GOLGI_NETWORK, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_SECRETION, GCM_DDX11, HIF1_Q3, NRF2_01, GCM_NF2, TGCCTTA_MIR124A
GO Biological Process (3): exocytosis (GO:0006887), post-Golgi vesicle-mediated transport (GO:0006892), protein transport (GO:0015031)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (8): Golgi apparatus (GO:0005794), membrane (GO:0016020), trans-Golgi network membrane (GO:0032588), recycling endosome membrane (GO:0055038), extracellular exosome (GO:0070062), sperm midpiece (GO:0097225), sperm principal piece (GO:0097228), endosome (GO:0005768)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| endomembrane system | 2 |
| sperm flagellum | 2 |
| vesicle-mediated transport | 1 |
| secretion by cell | 1 |
| vesicle fusion to plasma membrane | 1 |
| Golgi vesicle transport | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| trans-Golgi network | 1 |
| organelle membrane | 1 |
| endosome membrane | 1 |
| recycling endosome | 1 |
| extracellular vesicle | 1 |
| cytoplasmic vesicle | 1 |
Protein interactions and networks
STRING
924 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SCAMP2 | ARF6 | P26438 | 805 |
| SCAMP2 | ARHGAP1 | Q07960 | 580 |
| SCAMP2 | PLD1 | Q13393 | 563 |
| SCAMP2 | FAM219B | Q5XKK7 | 506 |
| SCAMP2 | HDDC3 | Q8N4P3 | 463 |
| SCAMP2 | BORCS7 | Q96B45 | 460 |
| SCAMP2 | WBP1L | Q9NX94 | 441 |
| SCAMP2 | NET1 | Q7Z628 | 440 |
| SCAMP2 | STX4 | Q12846 | 437 |
| SCAMP2 | LMAN1L | Q9HAT1 | 435 |
| SCAMP2 | SLC6A3 | Q01959 | 424 |
| SCAMP2 | STX1A | Q16623 | 420 |
| SCAMP2 | GPA33 | Q99795 | 413 |
| SCAMP2 | MBLAC2 | Q68D91 | 411 |
| SCAMP2 | JAGN1 | Q8N5M9 | 395 |
IntAct
93 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| NIPAL1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.640 |
| SLC9A7 | SCAMP2 | psi-mi:“MI:0915”(physical association) | 0.600 |
| SLC9A7 | SCAMP2 | psi-mi:“MI:0403”(colocalization) | 0.600 |
| SLC41A1 | SCAMP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCAMP2 | SLC41A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCAMP2 | FLNA | psi-mi:“MI:0915”(physical association) | 0.560 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| DLK1 | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| SCAMP2 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.530 |
| ATP5F1B | SCAMP2 | psi-mi:“MI:0914”(association) | 0.530 |
| SCAMP2 | SCAMP2 | psi-mi:“MI:0915”(physical association) | 0.460 |
| SCAMP2 | SCAMP2 | psi-mi:“MI:0403”(colocalization) | 0.460 |
| SYNDIG1 | SCAMP2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SCAMP2 | YWHAZ | psi-mi:“MI:0915”(physical association) | 0.400 |
| NCAPH | SCAMP2 | psi-mi:“MI:0914”(association) | 0.350 |
| REEP5 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (173): SCAMP2 (Affinity Capture-MS), SCAMP2 (Affinity Capture-MS), SCAMP2 (Affinity Capture-MS), SCAMP2 (Affinity Capture-MS), SCAMP2 (Affinity Capture-MS), SCAMP2 (Affinity Capture-MS), SCAMP2 (Affinity Capture-MS), SCAMP2 (Affinity Capture-MS), BCAP31 (Co-fractionation), JAGN1 (Co-fractionation), PHB (Co-fractionation), RPN1 (Co-fractionation), SCAMP2 (Co-fractionation), SCAMP2 (Proximity Label-MS), SCAMP2 (Proximity Label-MS)
ESM2 similar proteins: A5D7K7, B4DJY2, D3Z1U7, D3ZWZ9, O09117, O15126, O15127, O46521, O62646, O77735, O89104, P13164, P13498, P17971, P52650, P56603, P59995, Q05B54, Q0VBF8, Q16563, Q28CV2, Q2MHH0, Q5TYP8, Q5VSE6, Q5VXT5, Q61462, Q62737, Q63881, Q66IQ1, Q69YW2, Q6DFT4, Q6GQE1, Q8BGA2, Q8BLV3, Q8C838, Q8HYZ1, Q8IXB3, Q8K021, Q91499, Q95L73
Diamond homologs: O14828, O15126, O15127, O35609, O77735, P56603, Q17QF8, Q28F21, Q58DF6, Q58DR5, Q5R5Z8, Q5RCY9, Q6GM42, Q6GPA8, Q6P0C7, Q8K021, Q8TAC9, Q969E2, Q9ERN0, Q9ET20, Q9JKD3, Q9JKE3, Q9JKV5, Q9LR68, Q0JAI9, Q6Z8F5, Q9SXA5, Q9SKT3, A2YMP7, Q60EA5, Q75IC7, Q7F613, Q8H5X5, Q9C6X2, Q9M5P2, Q9ZTX0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 94 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 |
|---|---|---|---|
| Class A/1 (Rhodopsin-like receptors) | 9 | 10.6× | 5e-05 |
| GPCR ligand binding | 7 | 7.1× | 3e-03 |
| Neutrophil degranulation | 12 | 4.4× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway | 8 | 19.7× | 4e-06 |
| phospholipase C-activating G protein-coupled receptor signaling pathway | 8 | 11.8× | 1e-04 |
| positive regulation of cytosolic calcium ion concentration | 8 | 10.5× | 2e-04 |
| adenylate cyclase-activating G protein-coupled receptor signaling pathway | 6 | 7.6× | 7e-03 |
| G protein-coupled receptor signaling pathway | 12 | 4.9× | 6e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
64 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 47 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 564218 | GRCh37/hg19 15q24.1-24.2(chr15:75078195-75862756)x1 | Pathogenic |
SpliceAI
1349 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:74845472:CCCG:C | donor_gain | 1.0000 |
| 15:74845591:CCG:C | acceptor_gain | 1.0000 |
| 15:74845592:CGCTA:C | acceptor_gain | 1.0000 |
| 15:74845594:C:CC | acceptor_gain | 1.0000 |
| 15:74850674:C:CC | acceptor_gain | 1.0000 |
| 15:74851351:A:AC | donor_gain | 1.0000 |
| 15:74851352:C:CC | donor_gain | 1.0000 |
| 15:74851352:CA:C | donor_gain | 1.0000 |
| 15:74851352:CACAT:C | donor_gain | 1.0000 |
| 15:74851478:CTCA:C | acceptor_gain | 1.0000 |
| 15:74851480:CA:C | acceptor_gain | 1.0000 |
| 15:74851482:C:CC | acceptor_gain | 1.0000 |
| 15:74852066:TACC:T | donor_loss | 1.0000 |
| 15:74852067:A:AC | donor_gain | 1.0000 |
| 15:74852067:AC:A | donor_gain | 1.0000 |
| 15:74852067:ACCA:A | donor_loss | 1.0000 |
| 15:74852068:C:CC | donor_gain | 1.0000 |
| 15:74852068:CC:C | donor_gain | 1.0000 |
| 15:74852068:CCATG:C | donor_gain | 1.0000 |
| 15:74852183:CGGC:C | acceptor_gain | 1.0000 |
| 15:74852185:GC:G | acceptor_gain | 1.0000 |
| 15:74852186:CC:C | acceptor_gain | 1.0000 |
| 15:74852187:C:CC | acceptor_gain | 1.0000 |
| 15:74852197:C:CT | acceptor_gain | 1.0000 |
| 15:74854115:TTTGT:T | acceptor_gain | 1.0000 |
| 15:74854116:TTGT:T | acceptor_gain | 1.0000 |
| 15:74854117:TGT:T | acceptor_gain | 1.0000 |
| 15:74854119:TCTA:T | acceptor_loss | 1.0000 |
| 15:74854120:C:CC | acceptor_gain | 1.0000 |
| 15:74854120:CT:C | acceptor_loss | 1.0000 |
AlphaMissense
2138 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:74845589:A:G | W247R | 0.997 |
| 15:74845589:A:T | W247R | 0.997 |
| 15:74848671:G:C | F221L | 0.996 |
| 15:74848671:G:T | F221L | 0.996 |
| 15:74848673:A:G | F221L | 0.996 |
| 15:74850542:A:G | W202R | 0.996 |
| 15:74850542:A:T | W202R | 0.996 |
| 15:74850648:G:C | N166K | 0.996 |
| 15:74850648:G:T | N166K | 0.996 |
| 15:74851359:A:G | W156R | 0.996 |
| 15:74851359:A:T | W156R | 0.996 |
| 15:74848655:A:G | C227R | 0.994 |
| 15:74850545:A:G | C201R | 0.994 |
| 15:74850557:A:G | C197R | 0.994 |
| 15:74852126:C:G | A96P | 0.994 |
| 15:74873203:A:C | F18C | 0.994 |
| 15:74848680:G:C | F218L | 0.992 |
| 15:74848680:G:T | F218L | 0.992 |
| 15:74848682:A:G | F218L | 0.992 |
| 15:74851378:G:C | C149W | 0.992 |
| 15:74851467:A:G | W120R | 0.992 |
| 15:74851467:A:T | W120R | 0.992 |
| 15:74845591:C:T | G246D | 0.991 |
| 15:74850586:G:A | S187F | 0.991 |
| 15:74851403:A:G | I141T | 0.991 |
| 15:74851465:C:A | W120C | 0.991 |
| 15:74851465:C:G | W120C | 0.991 |
| 15:74850586:G:T | S187Y | 0.990 |
| 15:74850592:C:T | G185D | 0.990 |
| 15:74851403:A:C | I141S | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000142415 (15:74873041 T>G), RS1000261123 (15:74859220 TG>T), RS1000350021 (15:74873075 C>T), RS1000392905 (15:74866071 A>G), RS1000423999 (15:74865583 T>C,G), RS1000451280 (15:74864855 G>C), RS1000485545 (15:74871355 A>G), RS1000728336 (15:74852508 T>G), RS1001174144 (15:74864726 C>A), RS1001367466 (15:74872360 C>A,T), RS1001377418 (15:74872002 G>A,C), RS1001626689 (15:74864515 C>T), RS1001700948 (15:74851355 A>G), RS1001741151 (15:74871726 TGGGCAACAA>T), RS1001813679 (15:74844831 G>C)
Disease associations
OMIM: gene MIM:606912 | disease phenotypes: MIM:604416
GenCC curated gene-disease
Mondo (1): pyogenic arthritis-pyoderma gangrenosum-acne syndrome (MONDO:0011462)
Orphanet (1): PAPA syndrome (Orphanet:69126)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001032_3 | Caffeine consumption | 6.000000e-07 |
| GCST004608_199 | Granulocyte percentage of myeloid white cells | 1.000000e-14 |
| GCST004609_216 | Monocyte percentage of white cells | 5.000000e-11 |
| GCST006166_39 | Diastolic blood pressure x alcohol consumption interaction (2df test) | 2.000000e-36 |
| GCST006190_2 | Diastolic blood pressure x smoking status (ever vs never) interaction (2df test) | 8.000000e-21 |
| GCST006190_53 | Diastolic blood pressure x smoking status (ever vs never) interaction (2df test) | 1.000000e-21 |
| GCST006192_50 | Systolic blood pressure x smoking status (ever vs never) interaction (2df test) | 5.000000e-15 |
| GCST006192_73 | Systolic blood pressure x smoking status (ever vs never) interaction (2df test) | 1.000000e-12 |
| GCST006193_35 | Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 2.000000e-24 |
| GCST006193_74 | Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 4.000000e-24 |
| GCST006195_17 | Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 1.000000e-16 |
| GCST006195_66 | Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 3.000000e-15 |
| GCST009597_253 | Multiple sclerosis | 3.000000e-07 |
| GCST90002394_495 | Monocyte percentage of white cells | 2.000000e-28 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004330 | coffee consumption |
| EFO:0007997 | granulocyte percentage of myeloid white cells |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0004329 | alcohol drinking |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006527 | smoking status measurement |
| EFO:0006335 | systolic blood pressure |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C536253 | Pyogenic arthritis, pyoderma gangrenosum, and acne (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066474 (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 |
|---|---|---|---|---|
| 5.17 | Kd | 6766 | nM | CHEMBL3752910 |
| 5.17 | ED50 | 6766 | nM | CHEMBL3752910 |
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-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149347: Binding affinity to human SCAMP2 incubated for 45 mins by Kinobead based pull down assay | kd | 6.7663 | uM |
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | decreases methylation | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Atrazine | increases expression | 1 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | decreases expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Rotenone | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Vincristine | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| Cadmium Chloride | decreases reaction, increases abundance, increases palmitoylation | 1 |
| Lactic Acid | decreases 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 |
|---|---|---|---|
| CHEMBL5652389 | Binding | Binding affinity to human SCAMP2 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
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_F1US | HyCyte U-251MG KO-hSCAMP2 | 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): multiple sclerosis, pyogenic arthritis-pyoderma gangrenosum-acne syndrome