SCAMP3
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Summary
SCAMP3 (secretory carrier membrane protein 3, HGNC:10565) is a protein-coding gene on chromosome 1q22, encoding Secretory carrier-associated membrane protein 3 (O14828). Functions in post-Golgi recycling pathways.
This gene encodes an integral membrane protein that belongs to the secretory carrier membrane protein family. The encoded protein functions as a carrier to the cell surface in post-golgi recycling pathways. This protein is also involved in protein trafficking in endosomal pathways. Two transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 10067 — RefSeq curated summary.
At a glance
- GWAS associations: 18
- Clinical variants (ClinVar): 71 total
- Druggable target: yes
- MANE Select transcript:
NM_005698
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10565 |
| Approved symbol | SCAMP3 |
| Name | secretory carrier membrane protein 3 |
| Location | 1q22 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000116521 |
| Ensembl biotype | protein_coding |
| OMIM | 606913 |
| Entrez | 10067 |
Gene structure
Transcript identifiers
Ensembl transcripts: 36 — 26 protein_coding, 7 retained_intron, 3 nonsense_mediated_decay
ENST00000302631, ENST00000355379, ENST00000462151, ENST00000465312, ENST00000472397, ENST00000478737, ENST00000480219, ENST00000490999, ENST00000497470, ENST00000714213, ENST00000714214, ENST00000714215, ENST00000714216, ENST00000714217, ENST00000714218, ENST00000714219, ENST00000714220, ENST00000714221, ENST00000714222, ENST00000714223, ENST00000714224, ENST00000880564, ENST00000880565, ENST00000880566, ENST00000880567, ENST00000880568, ENST00000880569, ENST00000880570, ENST00000880571, ENST00000880572, ENST00000929050, ENST00000929051, ENST00000929052, ENST00000929053, ENST00000945653, ENST00000945654
RefSeq mRNA: 2 — MANE Select: NM_005698
NM_005698, NM_052837
CCDS: CCDS1105, CCDS1106
Canonical transcript exons
ENST00000302631 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001881861 | 155258826 | 155258954 |
| ENSE00003508700 | 155257285 | 155257386 |
| ENSE00003592324 | 155257498 | 155257657 |
| ENSE00004023141 | 155260330 | 155260450 |
| ENSE00004023143 | 155260537 | 155260659 |
| ENSE00004023145 | 155261657 | 155261734 |
| ENSE00004023212 | 155255981 | 155256419 |
| ENSE00004023225 | 155256674 | 155256791 |
| ENSE00004023226 | 155262086 | 155262360 |
Expression profiles
Bgee: expression breadth ubiquitous, 143 present calls, max score 96.80.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 77.3840 / max 343.6707, expressed in 1827 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 14949 | 28.4686 | 1819 |
| 14948 | 25.4725 | 1806 |
| 14953 | 15.9916 | 1795 |
| 14951 | 1.8774 | 1256 |
| 14950 | 1.8341 | 1274 |
| 14952 | 1.3632 | 959 |
| 14947 | 1.3394 | 886 |
| 14946 | 0.7665 | 424 |
| 14945 | 0.2324 | 93 |
| 14954 | 0.0381 | 12 |
Top tissues by expression
143 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland cortex | UBERON:0035827 | 96.80 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.70 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.42 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.32 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.22 | gold quality |
| apex of heart | UBERON:0002098 | 96.07 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.02 | gold quality |
| skin of leg | UBERON:0001511 | 95.88 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.81 | gold quality |
| zone of skin | UBERON:0000014 | 95.79 | gold quality |
| skin of abdomen | UBERON:0001416 | 95.78 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.51 | gold quality |
| granulocyte | CL:0000094 | 95.47 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.44 | gold quality |
| adrenal gland | UBERON:0002369 | 95.42 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 95.32 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.16 | gold quality |
| muscle of leg | UBERON:0001383 | 95.14 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 95.09 | gold quality |
| spleen | UBERON:0002106 | 95.07 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.02 | gold quality |
| body of pancreas | UBERON:0001150 | 94.99 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.97 | gold quality |
| placenta | UBERON:0001987 | 94.91 | gold quality |
| body of stomach | UBERON:0001161 | 94.87 | gold quality |
| cortex of kidney | UBERON:0001225 | 94.84 | gold quality |
| heart | UBERON:0000948 | 94.80 | gold quality |
| lymph node | UBERON:0000029 | 94.76 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.63 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 94.60 | 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
miRNA regulators (miRDB)
28 targeting SCAMP3, 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-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-370-5P | 99.78 | 66.81 | 706 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-12122 | 99.56 | 69.33 | 1672 |
| HSA-MIR-584-3P | 99.35 | 67.69 | 1082 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
| HSA-MIR-6895-3P | 98.79 | 65.69 | 996 |
| HSA-MIR-4274 | 98.59 | 66.10 | 630 |
| HSA-MIR-6887-5P | 98.56 | 68.49 | 1295 |
| HSA-MIR-6795-5P | 98.52 | 68.51 | 1277 |
| HSA-MIR-3187-3P | 97.38 | 65.80 | 904 |
| HSA-MIR-7106-3P | 97.33 | 65.33 | 644 |
| HSA-MIR-6736-3P | 96.98 | 65.22 | 1342 |
| HSA-MIR-132-5P | 96.61 | 65.79 | 115 |
| HSA-MIR-7108-5P | 96.42 | 66.17 | 598 |
| HSA-MIR-644A | 96.02 | 66.52 | 786 |
| HSA-MIR-920 | 95.97 | 63.95 | 811 |
| HSA-MIR-6726-5P | 95.97 | 63.72 | 841 |
| HSA-MIR-4300 | 95.85 | 64.56 | 1003 |
| HSA-MIR-5591-5P | 95.85 | 64.76 | 1002 |
Literature-anchored findings (GeneRIF, showing 8)
- Depletion of SCAMP3 in HeLa cells by inhibitory RNA accelerated degradation of epidermal growth factor receptor (EGFR) and EGF while inhibiting recycling (PMID:19158374)
- SCAMP3 tubules reflect a manipulation of specific post-Golgi trafficking that might allow Salmonella to acquire nutrients and membrane, or to control host immune responses. (PMID:19438519)
- SCAMP3 has a positive role in sorting into and budding of intralumenal vesicles and thereby controls the process of multivesicular endosome biogenesis. (PMID:21951651)
- SCAMP 3 is a novel regulator of endosomal morphology and composition. (PMID:27507217)
- The novel association of several endocytosis-associated proteins has been demonstrated, in particular, of CLTC and SCAMP3 with hepatocellular carcinoma progression. (PMID:27519163)
- MicroRNA-27a/b-3p and PPARG regulate SCAMP3 through a feed-forward loop during adipogenesis. (PMID:31554889)
- Secretory Carrier Membrane Protein 3 Interacts with 3A Viral Protein of Enterovirus and Participates in Viral Replication. (PMID:34378951)
- the SCAMPs may largely function at the same sites during vesicular transport rather than in separate post-Golgi recycling pathways. (PMID:9378760)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | scamp3 | ENSDARG00000016765 |
| mus_musculus | Scamp3 | ENSMUSG00000028049 |
| rattus_norvegicus | Scamp3 | ENSRNOG00000020500 |
| drosophila_melanogaster | Scamp | FBGN0040285 |
| caenorhabditis_elegans | scm-1 | WBGENE00004743 |
Paralogs (4): SCAMP1 (ENSG00000085365), SCAMP2 (ENSG00000140497), SCAMP5 (ENSG00000198794), SCAMP4 (ENSG00000227500)
Protein
Protein identifiers
Secretory carrier-associated membrane protein 3 — O14828 (reviewed: O14828)
All UniProt accessions (13): O14828, A0AAQ5BHL7, A0AAQ5BHL8, A0AAQ5BHM9, A0AAQ5BHP1, A0AAQ5BHP8, A0AAQ5BHQ3, A0AAQ5BHQ9, A0AAQ5BHR3, A0AAQ5BHR7, A0AAQ5BHR8, A0AAQ5BHS3, A0AAQ5BHV0
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 NEDD4, NEDD4L and TSG101. Interacts with RNF126.
Subcellular location. Membrane.
Tissue specificity. Widely expressed, with highest expression in heart and skeletal muscle.
Post-translational modifications. Monoubiquitinated.
Similarity. Belongs to the SCAMP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O14828-1 | 1 | yes |
| O14828-2 | 2 |
RefSeq proteins (2): NP_005689, NP_443069 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007273 | SCAMP | Family |
Pfam: PF04144
UniProt features (27 total): modified residue 8, sequence variant 4, transmembrane region 4, sequence conflict 3, topological domain 2, chain 1, cross-link 1, splice variant 1, mutagenesis site 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14828-F1 | 76.99 | 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 (9): 37, 41, 53, 72, 76, 83, 85, 313, 32
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 67 | abolishes interaction with tsg101. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 165 (showing top):
BORCZUK_MALIGNANT_MESOTHELIOMA_UP, ENK_UV_RESPONSE_KERATINOCYTE_UP, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, MORF_HDAC1, GOBP_VESICLE_MEDIATED_TRANSPORT, PATIL_LIVER_CANCER, TCF4_Q5, GOBP_EXOCYTOSIS, GOCC_TRANS_GOLGI_NETWORK, BLALOCK_ALZHEIMERS_DISEASE_UP, HNF4_DR1_Q3, MORF_BUB3, GOBP_SECRETION, chr1q22, BOYAULT_LIVER_CANCER_SUBCLASS_G12_UP
GO Biological Process (3): exocytosis (GO:0006887), post-Golgi vesicle-mediated transport (GO:0006892), protein transport (GO:0015031)
GO Molecular Function (1): ubiquitin protein ligase binding (GO:0031625)
GO Cellular Component (4): trans-Golgi network membrane (GO:0032588), recycling endosome membrane (GO:0055038), extracellular exosome (GO:0070062), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| 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 |
| ubiquitin-like protein ligase binding | 1 |
| trans-Golgi network | 1 |
| organelle membrane | 1 |
| endosome membrane | 1 |
| recycling endosome | 1 |
| extracellular vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
920 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SCAMP3 | TSG101 | Q99816 | 728 |
| SCAMP3 | DRAM1 | Q8N682 | 696 |
| SCAMP3 | ENTREP3 | P81408 | 489 |
| SCAMP3 | KRTCAP2 | Q8N6L1 | 455 |
| SCAMP3 | STAM2 | O75886 | 420 |
| SCAMP3 | ERBB3 | P21860 | 399 |
| SCAMP3 | SCCPDH | Q8NBX0 | 399 |
| SCAMP3 | MUC1 | P13931 | 396 |
| SCAMP3 | MTX1 | Q13505 | 387 |
| SCAMP3 | HCN3 | Q9P1Z3 | 379 |
| SCAMP3 | TRIM46 | Q7Z4K8 | 371 |
| SCAMP3 | STAM | Q92783 | 370 |
| SCAMP3 | CMC1 | Q7Z7K0 | 361 |
| SCAMP3 | CRNN | Q9UBG3 | 350 |
| SCAMP3 | TMX4 | Q9H1E5 | 349 |
IntAct
195 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IFT70B | IFT56 | psi-mi:“MI:0914”(association) | 0.790 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| CD27 | TCAF2 | psi-mi:“MI:0914”(association) | 0.640 |
| FAM234B | ABCD4 | psi-mi:“MI:0914”(association) | 0.620 |
| SLC39A4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| VAMP5 | NBAS | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM63A | AP3D1 | psi-mi:“MI:0914”(association) | 0.530 |
| SCAMP2 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.530 |
| DLK1 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.530 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| vpu | SCAMP3 | psi-mi:“MI:0914”(association) | 0.460 |
| NEDD4 | SCAMP3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| YAP1 | SCAMP3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SCAMP3 | PCNA | psi-mi:“MI:0915”(physical association) | 0.370 |
| Tor1aip1 | PEX10 | psi-mi:“MI:0914”(association) | 0.350 |
| Dync1li1 | SSR3 | psi-mi:“MI:0914”(association) | 0.350 |
| Cdc16 | ANAPC15 | psi-mi:“MI:0914”(association) | 0.350 |
| Cdc26 | psi-mi:“MI:0914”(association) | 0.350 | |
| CDC73 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.350 |
| Pcgf1 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.350 |
| Ercc6l | RPL17 | psi-mi:“MI:0914”(association) | 0.350 |
| NCSTN | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| Ncstn | DERL1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (319): SCAMP3 (Affinity Capture-MS), SCAMP3 (Affinity Capture-MS), BCAP31 (Co-fractionation), DDOST (Co-fractionation), SCAMP3 (Co-fractionation), SCAMP3 (Co-fractionation), SCAMP3 (Co-fractionation), SCAMP3 (Affinity Capture-MS), SCAMP3 (Proximity Label-MS), SCAMP3 (Affinity Capture-MS), SCAMP3 (Affinity Capture-MS), SCAMP3 (Affinity Capture-MS), SCAMP3 (Affinity Capture-MS), SCAMP3 (Affinity Capture-MS), SCAMP3 (Affinity Capture-MS)
ESM2 similar proteins: A2YMP7, A4RE85, B2WCU2, B3M9W1, B3NDM7, B4GRI8, B4HIJ8, B4J043, B4L0H1, B4LIH0, B4MXW6, B4PD01, B4QLP9, O14828, O35609, O95070, P87148, Q0JAI9, Q0UUE1, Q1E5A9, Q29BL9, Q3T196, Q4FZQ0, Q58DR5, Q5APC0, Q5BJH7, Q5RBL0, Q5U3G6, Q60EA5, Q6GN58, Q6P301, Q6P6G5, Q6PC24, Q6Z8F5, Q75IC7, Q7F613, Q7SDN3, Q8H5X5, Q8MRQ4, Q91VU1
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, Q9M5P2, Q9C6X2, Q9ZTX0, Q60EA5
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| EGFR | unknown | SCAMP3 | phosphorylation |
| EGFR | “up-regulates activity” | SCAMP3 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 211 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 |
|---|---|---|---|
| Neutrophil degranulation | 18 | 3.2× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of long-term neuronal synaptic plasticity | 5 | 29.9× | 7e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
71 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 57 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1191 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:155256415:TGGAT:T | acceptor_gain | 1.0000 |
| 1:155256416:GGAT:G | acceptor_gain | 1.0000 |
| 1:155256417:GAT:G | acceptor_gain | 1.0000 |
| 1:155256420:C:CC | acceptor_gain | 1.0000 |
| 1:155256420:C:T | acceptor_loss | 1.0000 |
| 1:155256421:T:G | acceptor_loss | 1.0000 |
| 1:155256672:AC:A | donor_gain | 1.0000 |
| 1:155256673:CC:C | donor_gain | 1.0000 |
| 1:155256692:T:TA | donor_gain | 1.0000 |
| 1:155256787:AGCCA:A | acceptor_gain | 1.0000 |
| 1:155256788:GCCA:G | acceptor_gain | 1.0000 |
| 1:155256789:CCA:C | acceptor_gain | 1.0000 |
| 1:155256789:CCAC:C | acceptor_gain | 1.0000 |
| 1:155256790:CA:C | acceptor_gain | 1.0000 |
| 1:155256790:CAC:C | acceptor_gain | 1.0000 |
| 1:155256792:C:CC | acceptor_gain | 1.0000 |
| 1:155256792:CTGT:C | acceptor_loss | 1.0000 |
| 1:155256794:G:GC | acceptor_gain | 1.0000 |
| 1:155257333:T:TA | donor_gain | 1.0000 |
| 1:155257654:CTGC:C | acceptor_gain | 1.0000 |
| 1:155257657:CCTAA:C | acceptor_loss | 1.0000 |
| 1:155257658:CTAA:C | acceptor_loss | 1.0000 |
| 1:155258824:A:AC | donor_gain | 1.0000 |
| 1:155258825:C:CC | donor_gain | 1.0000 |
| 1:155258825:CA:C | donor_gain | 1.0000 |
| 1:155258825:CACAT:C | donor_gain | 1.0000 |
| 1:155260324:A:AC | donor_gain | 1.0000 |
| 1:155260325:C:CC | donor_gain | 1.0000 |
| 1:155260325:CTTA:C | donor_gain | 1.0000 |
| 1:155260326:TTA:T | donor_loss | 1.0000 |
AlphaMissense
2252 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:155260390:C:G | A110P | 0.999 |
| 1:155260401:A:G | L106P | 0.999 |
| 1:155256322:G:T | A332D | 0.998 |
| 1:155256787:A:G | W262R | 0.998 |
| 1:155256787:A:T | W262R | 0.998 |
| 1:155257632:G:C | N181K | 0.998 |
| 1:155257632:G:T | N181K | 0.998 |
| 1:155258940:A:G | W135R | 0.998 |
| 1:155258940:A:T | W135R | 0.998 |
| 1:155256376:G:T | A314D | 0.997 |
| 1:155257356:G:C | F236L | 0.997 |
| 1:155257356:G:T | F236L | 0.997 |
| 1:155257358:A:G | F236L | 0.997 |
| 1:155257526:A:G | W217R | 0.997 |
| 1:155257526:A:T | W217R | 0.997 |
| 1:155257529:A:G | C216R | 0.997 |
| 1:155257541:A:G | C212R | 0.997 |
| 1:155258938:C:A | W135C | 0.997 |
| 1:155258938:C:G | W135C | 0.997 |
| 1:155256364:A:G | F318S | 0.996 |
| 1:155256387:G:C | S310R | 0.996 |
| 1:155256387:G:T | S310R | 0.996 |
| 1:155256389:T:G | S310R | 0.996 |
| 1:155256403:C:G | R305P | 0.996 |
| 1:155257498:C:G | R226P | 0.996 |
| 1:155258832:A:G | W171R | 0.996 |
| 1:155258832:A:T | W171R | 0.996 |
| 1:155260391:C:A | K109N | 0.996 |
| 1:155260391:C:G | K109N | 0.996 |
| 1:155260395:C:G | R108P | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000115651 (1:155259949 G>A,C), RS1000529703 (1:155260122 TTGTG>T,TTG), RS1001015417 (1:155255542 G>A), RS1001517739 (1:155263713 AGAATCCAG>A), RS1002216533 (1:155262872 G>A), RS1002293618 (1:155256154 A>T), RS1002406489 (1:155255894 C>A), RS1002924414 (1:155262397 C>A,T), RS1003413249 (1:155257147 G>A,C), RS1003521261 (1:155260964 G>C), RS1004219344 (1:155259815 C>T), RS1004551167 (1:155257761 G>A), RS1005195769 (1:155261916 G>A), RS1005634545 (1:155261628 T>A), RS1006021983 (1:155259159 A>C,G,T)
Disease associations
OMIM: gene MIM:606913 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000879_41 | Crohn’s disease | 2.000000e-13 |
| GCST004131_70 | Inflammatory bowel disease | 6.000000e-08 |
| GCST004132_44 | Crohn’s disease | 2.000000e-07 |
| GCST007294_124 | Body fat distribution (trunk fat ratio) | 8.000000e-35 |
| GCST007294_3 | Body fat distribution (trunk fat ratio) | 6.000000e-21 |
| GCST007294_50 | Body fat distribution (trunk fat ratio) | 1.000000e-15 |
| GCST007295_17 | Body fat distribution (leg fat ratio) | 3.000000e-13 |
| GCST007295_37 | Body fat distribution (leg fat ratio) | 7.000000e-17 |
| GCST007295_72 | Body fat distribution (leg fat ratio) | 1.000000e-28 |
| GCST010696_19 | Cortical thickness (min-P) | 2.000000e-10 |
| GCST010697_10 | Cortical surface area (min-P) | 3.000000e-10 |
| GCST010698_59 | Subcortical volume (min-P) | 9.000000e-10 |
| GCST010699_20 | Brain morphology (min-P) | 7.000000e-10 |
| GCST010700_5 | Cortical thickness (MOSTest) | 8.000000e-17 |
| GCST010701_66 | Cortical surface area (MOSTest) | 1.000000e-09 |
| GCST010702_43 | Subcortical volume (MOSTest) | 3.000000e-10 |
| GCST010703_253 | Brain morphology (MOSTest) | 4.000000e-14 |
| GCST90002404_428 | Red cell distribution width | 5.000000e-17 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004341 | body fat distribution |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066432 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.54 | Kd | 2.915 | nM | CHEMBL3752910 |
| 8.54 | ED50 | 2.915 | nM | CHEMBL3752910 |
| 6.00 | Kd | 1012 | nM | CHEMBL5653589 |
| 6.00 | ED50 | 1012 | nM | CHEMBL5653589 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 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 | 2149348: Binding affinity to human SCAMP3 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0029 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149348: Binding affinity to human SCAMP3 incubated for 45 mins by Kinobead based pull down assay | kd | 1.0119 | uM |
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects cotreatment, increases expression | 3 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| bufotalin | increases expression | 1 |
| alpha-pinene | increases expression, increases abundance, affects cotreatment | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Irinotecan | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acrolein | affects cotreatment, increases expression, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Fluorouracil | affects cotreatment, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | affects cotreatment, increases expression, increases abundance | 1 |
| Phenolsulfonphthalein | affects cotreatment, increases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects expression | 1 |
| Selenium | affects cotreatment, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Vitamin E | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Volatile Organic Compounds | 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 |
|---|---|---|---|
| CHEMBL5652390 | Binding | Binding affinity to human SCAMP3 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 |
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): Crohn disease, inflammatory bowel disease