SCAMP1
gene geneOn this page
Also known as SCAMP37
Summary
SCAMP1 (secretory carrier membrane protein 1, HGNC:10563) is a protein-coding gene on chromosome 5q14.1, encoding Secretory carrier-associated membrane protein 1 (O15126). 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 these protein family members may function at the same site during vesicular transport rather than in separate pathways. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 9522 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 25 total
- MANE Select transcript:
NM_004866
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10563 |
| Approved symbol | SCAMP1 |
| Name | secretory carrier membrane protein 1 |
| Location | 5q14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SCAMP37 |
| Ensembl gene | ENSG00000085365 |
| Ensembl biotype | protein_coding |
| OMIM | 606911 |
| Entrez | 9522 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 9 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000320280, ENST00000506858, ENST00000510030, ENST00000511551, ENST00000614488, ENST00000618166, ENST00000621999, ENST00000878187, ENST00000878188, ENST00000920041, ENST00000962697
RefSeq mRNA: 2 — MANE Select: NM_004866
NM_001290229, NM_004866
CCDS: CCDS75264, CCDS78025
Canonical transcript exons
ENST00000621999 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003467010 | 78421801 | 78421960 |
| ENSE00003478091 | 78418775 | 78418903 |
| ENSE00003716665 | 78449933 | 78450034 |
| ENSE00003724251 | 78415520 | 78415618 |
| ENSE00003729644 | 78475504 | 78480739 |
| ENSE00003732635 | 78360617 | 78360728 |
| ENSE00003738003 | 78416541 | 78416649 |
| ENSE00003742063 | 78388837 | 78388914 |
| ENSE00003750655 | 78459245 | 78459362 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 98.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.2448 / max 385.2918, expressed in 1811 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 57204 | 24.6880 | 1792 |
| 57200 | 5.6737 | 1618 |
| 57203 | 4.9674 | 1635 |
| 57205 | 4.1752 | 1505 |
| 57201 | 1.8665 | 1100 |
| 57202 | 1.4777 | 948 |
| 57198 | 0.3090 | 141 |
| 57199 | 0.0873 | 16 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pigmented layer of retina | UBERON:0001782 | 98.61 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 98.38 | gold quality |
| cortical plate | UBERON:0005343 | 98.29 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 97.93 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 97.86 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 97.32 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.24 | gold quality |
| secondary oocyte | CL:0000655 | 97.23 | gold quality |
| buccal mucosa cell | CL:0002336 | 97.21 | gold quality |
| cartilage tissue | UBERON:0002418 | 97.08 | gold quality |
| medulla oblongata | UBERON:0001896 | 96.92 | gold quality |
| seminal vesicle | UBERON:0000998 | 96.86 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 96.81 | gold quality |
| parietal lobe | UBERON:0001872 | 96.62 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 96.50 | gold quality |
| endothelial cell | CL:0000115 | 96.49 | gold quality |
| postcentral gyrus | UBERON:0002581 | 96.46 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 96.40 | gold quality |
| ventral tegmental area | UBERON:0002691 | 96.40 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 96.37 | gold quality |
| pons | UBERON:0000988 | 96.33 | gold quality |
| entorhinal cortex | UBERON:0002728 | 96.13 | gold quality |
| parotid gland | UBERON:0001831 | 96.06 | gold quality |
| caput epididymis | UBERON:0004358 | 95.98 | gold quality |
| mammalian vulva | UBERON:0000997 | 95.96 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 95.95 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 95.83 | gold quality |
| penis | UBERON:0000989 | 95.82 | gold quality |
| oocyte | CL:0000023 | 95.80 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 95.80 | 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)
248 targeting SCAMP1, 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-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
Literature-anchored findings (GeneRIF, showing 5)
- RNA interference-mediated downregulation of SCAMP1 resulted in a marked reduction in cell migration and invasion, but not proliferation in tumor cell lines. (PMID:23653380)
- SCAMP1 enhances Mtss1 anti-invasive function in HER2+/ER-/PR- breast cancer, by promoting its protein trafficking leading to elevated levels of RAC1-GTP and increased cell-cell adhesions. (PMID:29497041)
- Prognostic role of SCAMP family in acute myeloid leukemia. (PMID:31988488)
- Long Noncoding RNA SCAMP1 Targets miR-137/CXCL12 Axis to Boost Cell Invasion and Angiogenesis in Ovarian Cancer (PMID:32401536)
- Multiomics Analysis of Endocytosis upon HBV Infection and Identification of SCAMP1 as a Novel Host Restriction Factor against HBV Replication. (PMID:35216324)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | scamp1 | ENSDARG00000036911 |
| mus_musculus | Scamp1 | ENSMUSG00000021687 |
| rattus_norvegicus | Scamp1 | ENSRNOG00000061582 |
| drosophila_melanogaster | Scamp | FBGN0040285 |
| caenorhabditis_elegans | scm-1 | WBGENE00004743 |
Paralogs (4): SCAMP3 (ENSG00000116521), SCAMP2 (ENSG00000140497), SCAMP5 (ENSG00000198794), SCAMP4 (ENSG00000227500)
Protein
Protein identifiers
Secretory carrier-associated membrane protein 1 — O15126 (reviewed: O15126)
All UniProt accessions (5): O15126, A0A087WTX8, A0A087WU14, A0A087WXB0, A0A087WZA6
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 SYNRG and ITSN1. Interacts with SLC9A7.
Subcellular location. Golgi apparatus. trans-Golgi network membrane. Recycling endosome membrane.
Tissue specificity. Widely expressed, with highest expression in brain.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the SCAMP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O15126-1 | 1 | yes |
| O15126-2 | 2 |
RefSeq proteins (2): NP_001277158, NP_004857* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007273 | SCAMP | Family |
Pfam: PF04144
UniProt features (19 total): topological domain 5, transmembrane region 4, modified residue 3, sequence conflict 3, initiator methionine 1, chain 1, region of interest 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O15126-F1 | 79.31 | 0.43 |
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 (3): 2, 2, 45
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
MSigDB gene sets: 334 (showing top):
BEGUM_TARGETS_OF_PAX3_FOXO1_FUSION_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, LIANG_HEMATOPOIESIS_STEM_CELL_NUMBER_SMALL_VS_HUGE_UP, FREAC2_01, REACTOME_INNATE_IMMUNE_SYSTEM, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, MORF_MSH3, GOCC_SECRETORY_GRANULE, MORF_BRCA1, MORF_ATRX, MITSIADES_RESPONSE_TO_APLIDIN_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, MORF_ESR1, NFKB_Q6, GOBP_EXOCYTOSIS
GO Biological Process (5): exocytosis (GO:0006887), post-Golgi vesicle-mediated transport (GO:0006892), endocytosis (GO:0006897), protein transport (GO:0015031), establishment of localization in cell (GO:0051649)
GO Molecular Function (2): protein domain specific binding (GO:0019904), protein binding (GO:0005515)
GO Cellular Component (13): trans-Golgi network (GO:0005802), plasma membrane (GO:0005886), membrane (GO:0016020), clathrin-coated vesicle (GO:0030136), synaptic vesicle membrane (GO:0030672), trans-Golgi network membrane (GO:0032588), specific granule membrane (GO:0035579), zymogen granule membrane (GO:0042589), recycling endosome membrane (GO:0055038), endosome (GO:0005768), Golgi apparatus (GO:0005794), cytoplasmic vesicle membrane (GO:0030659), synapse (GO:0045202)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| vesicle-mediated transport | 2 |
| secretory granule membrane | 2 |
| endomembrane system | 2 |
| cytoplasmic vesicle | 2 |
| secretion by cell | 1 |
| vesicle fusion to plasma membrane | 1 |
| Golgi vesicle transport | 1 |
| vesicle budding from membrane | 1 |
| membrane invagination | 1 |
| import into cell | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| establishment of localization | 1 |
| cellular localization | 1 |
| protein binding | 1 |
| binding | 1 |
| Golgi apparatus subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| coated vesicle | 1 |
| synaptic vesicle | 1 |
| exocytic vesicle membrane | 1 |
| trans-Golgi network | 1 |
| organelle membrane | 1 |
| specific granule | 1 |
| zymogen granule | 1 |
| endosome membrane | 1 |
| recycling endosome | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| vesicle membrane | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1102 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SCAMP1 | ITSN1 | Q15811 | 773 |
| SCAMP1 | SYNRG | Q9UMZ2 | 766 |
| SCAMP1 | ITSN2 | Q9NZM3 | 553 |
| SCAMP1 | ARF6 | P26438 | 502 |
| SCAMP1 | EXOC5 | O00471 | 479 |
| SCAMP1 | RAB9A | P51151 | 460 |
| SCAMP1 | STON2 | Q8WXE9 | 445 |
| SCAMP1 | HOOK3 | Q86VS8 | 430 |
| SCAMP1 | BAZ1A | Q9NRL2 | 429 |
| SCAMP1 | LRRC8B | Q6P9F7 | 429 |
| SCAMP1 | TBC1D15 | Q8TC07 | 428 |
| SCAMP1 | KIF5B | P33176 | 422 |
| SCAMP1 | SLC44A1 | Q8WWI5 | 420 |
| SCAMP1 | RAB3B | P20337 | 418 |
| SCAMP1 | HOOK1 | Q9UJC3 | 415 |
IntAct
158 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CD27 | TCAF2 | psi-mi:“MI:0914”(association) | 0.640 |
| ENPP6 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.640 |
| ABCD4 | ABCD4 | psi-mi:“MI:0914”(association) | 0.640 |
| LYPD3 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.640 |
| SCAMP1 | DNAJC13 | psi-mi:“MI:0915”(physical association) | 0.620 |
| SCAMP1 | DNAJC13 | psi-mi:“MI:0914”(association) | 0.620 |
| TASOR2 | SCAMP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZMIZ2 | SCAMP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCAMP1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| SCAMP1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| SCAMP1 | NDRG4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCAMP1 | PCYT1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCAMP1 | MTERF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCAMP1 | THAP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCAMP1 | PBX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCAMP1 | SPG21 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCAMP1 | ARFIP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCAMP1 | ARFIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCAMP1 | PTPN9 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (286): FAM208B (Two-hybrid), ZMIZ2 (Two-hybrid), KRTAP13-1 (Two-hybrid), SCAMP1 (Affinity Capture-RNA), SCAMP1 (Affinity Capture-RNA), SCAMP1 (Affinity Capture-MS), SCAMP1 (Affinity Capture-MS), SCAMP1 (Affinity Capture-MS), SCAMP1 (Affinity Capture-MS), SCAMP1 (Affinity Capture-MS), SCAMP1 (Affinity Capture-MS), SCAMP1 (Affinity Capture-MS), SCAMP1 (Affinity Capture-MS), SCAMP1 (Affinity Capture-MS), SCAMP1 (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, Q9M5P2, Q9C6X2, Q9ZTX0, Q60EA5, A2YMP7, Q75IC7, Q7F613, Q8H5X5
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| EGFR | “up-regulates activity” | SCAMP1 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
25 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 10 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2015 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:78360726:AAGGT:A | donor_loss | 1.0000 |
| 5:78360730:T:A | donor_loss | 1.0000 |
| 5:78388830:A:AG | acceptor_gain | 1.0000 |
| 5:78388834:TAG:T | acceptor_loss | 1.0000 |
| 5:78388835:A:AG | acceptor_gain | 1.0000 |
| 5:78388835:A:G | acceptor_loss | 1.0000 |
| 5:78388835:AG:A | acceptor_gain | 1.0000 |
| 5:78388836:G:GT | acceptor_gain | 1.0000 |
| 5:78388836:GG:G | acceptor_gain | 1.0000 |
| 5:78388910:GAACA:G | donor_gain | 1.0000 |
| 5:78388913:CA:C | donor_gain | 1.0000 |
| 5:78388915:G:GG | donor_gain | 1.0000 |
| 5:78415509:A:AG | acceptor_gain | 1.0000 |
| 5:78415510:A:G | acceptor_gain | 1.0000 |
| 5:78415515:CCTA:C | acceptor_loss | 1.0000 |
| 5:78415516:CTA:C | acceptor_loss | 1.0000 |
| 5:78415518:A:AG | acceptor_gain | 1.0000 |
| 5:78415518:AG:A | acceptor_loss | 1.0000 |
| 5:78415519:G:GT | acceptor_gain | 1.0000 |
| 5:78415519:GC:G | acceptor_gain | 1.0000 |
| 5:78415519:GCC:G | acceptor_gain | 1.0000 |
| 5:78415519:GCCT:G | acceptor_gain | 1.0000 |
| 5:78415519:GCCTC:G | acceptor_gain | 1.0000 |
| 5:78415615:AAAG:A | donor_loss | 1.0000 |
| 5:78415618:GGTT:G | donor_loss | 1.0000 |
| 5:78415619:G:A | donor_loss | 1.0000 |
| 5:78416536:TTTA:T | acceptor_loss | 1.0000 |
| 5:78416538:TAG:T | acceptor_loss | 1.0000 |
| 5:78416539:A:AG | acceptor_gain | 1.0000 |
| 5:78416540:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
2245 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:78416587:T:C | L94P | 1.000 |
| 5:78416598:G:C | A98P | 1.000 |
| 5:78418789:T:A | W120R | 1.000 |
| 5:78418789:T:C | W120R | 1.000 |
| 5:78421932:T:A | W202R | 1.000 |
| 5:78421932:T:C | W202R | 1.000 |
| 5:78459249:T:A | W247R | 1.000 |
| 5:78459249:T:C | W247R | 1.000 |
| 5:78475520:G:C | R290P | 1.000 |
| 5:78475547:C:A | A299D | 1.000 |
| 5:78475559:T:C | F303S | 1.000 |
| 5:78475589:T:A | V313D | 1.000 |
| 5:78475600:G:C | A317P | 1.000 |
| 5:78475601:C:A | A317D | 1.000 |
| 5:78475613:C:A | A321D | 1.000 |
| 5:78360696:T:C | F9L | 0.999 |
| 5:78360697:T:G | F9C | 0.999 |
| 5:78360698:T:A | F9L | 0.999 |
| 5:78360698:T:G | F9L | 0.999 |
| 5:78388897:T:C | F40L | 0.999 |
| 5:78388898:T:G | F40C | 0.999 |
| 5:78388899:C:A | F40L | 0.999 |
| 5:78388899:C:G | F40L | 0.999 |
| 5:78416575:G:C | R90P | 0.999 |
| 5:78416578:A:C | Q91P | 0.999 |
| 5:78416601:G:C | A99P | 0.999 |
| 5:78416608:T:C | L101S | 0.999 |
| 5:78416617:G:C | R104P | 0.999 |
| 5:78418788:T:A | N119K | 0.999 |
| 5:78418788:T:G | N119K | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000034845 (5:78408667 C>G), RS1000062987 (5:78438087 A>G), RS1000076441 (5:78471750 A>G), RS1000083589 (5:78359737 G>C), RS1000098899 (5:78388358 T>C), RS1000131252 (5:78388138 C>T), RS1000135304 (5:78401222 T>C,G), RS1000176116 (5:78388443 C>G), RS1000183970 (5:78475334 A>G), RS1000245021 (5:78359640 C>G,T), RS1000249174 (5:78475927 G>A,T), RS1000293774 (5:78468623 T>C), RS1000300929 (5:78448992 C>T), RS1000319224 (5:78375614 T>C), RS1000329194 (5:78394828 G>A)
Disease associations
OMIM: gene MIM:606911 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000461_21 | Hippocampal atrophy | 2.000000e-06 |
| GCST003301_5 | Triglycerides | 7.000000e-08 |
| GCST006412_23 | Intraocular pressure | 7.000000e-09 |
| GCST90002400_689 | Plateletcrit | 2.000000e-12 |
| GCST90002402_775 | Platelet count | 2.000000e-34 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005039 | hippocampal atrophy |
| EFO:0004530 | triglyceride measurement |
| EFO:0004695 | intraocular pressure measurement |
| EFO:0007985 | platelet crit |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
56 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| cobaltous chloride | affects cotreatment, increases expression | 3 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tetrachlorodibenzodioxin | affects expression, decreases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Valproic Acid | increases expression | 2 |
| Cadmium Chloride | decreases reaction, increases abundance, increases palmitoylation, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| uranyl acetate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| lead acetate | affects cotreatment, decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| zinc protoporphyrin | affects cotreatment, decreases expression | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| 2-bromopalmitate | increases palmitoylation, decreases reaction, increases abundance | 1 |
| lead chloride | affects cotreatment, increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| cadmium sulfate | affects cotreatment, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| tamibarotene | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| indolo(3,2-b)carbazole | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Rosiglitazone | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2EM | Abcam HeLa SCAMP1 KO | Cancer cell line | Female |
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.