AAMP
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Summary
AAMP (angio associated migratory cell protein, HGNC:18) is a protein-coding gene on chromosome 2q35, encoding Angio-associated migratory cell protein (Q13685). Plays a role in angiogenesis and cell migration. It is a common-essential gene (DepMap: required in 92.4% of cancer cell lines).
The gene is a member of the immunoglobulin superfamily. The encoded protein is associated with angiogenesis, with potential roles in endothelial tube formation and the migration of endothelial cells. It may also regulate smooth muscle cell migration via the RhoA pathway. The encoded protein can bind to heparin and may mediate heparin-sensitive cell adhesion.
Source: NCBI Gene 14 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 72 total — 8 pathogenic, 2 likely-pathogenic
- Cancer dependency (DepMap): dependent in 92.4% of screened cell lines (common-essential)
- MANE Select transcript:
NM_001087
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18 |
| Approved symbol | AAMP |
| Name | angio associated migratory cell protein |
| Location | 2q35 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000127837 |
| Ensembl biotype | protein_coding |
| OMIM | 603488 |
| Entrez | 14 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 16 protein_coding, 5 retained_intron
ENST00000248450, ENST00000420660, ENST00000422731, ENST00000444053, ENST00000447885, ENST00000461911, ENST00000465442, ENST00000475678, ENST00000489767, ENST00000494720, ENST00000896971, ENST00000896972, ENST00000896973, ENST00000912377, ENST00000912378, ENST00000952043, ENST00000952044, ENST00000952045, ENST00000952046, ENST00000952047, ENST00000952048
RefSeq mRNA: 2 — MANE Select: NM_001087
NM_001087, NM_001302545
CCDS: CCDS33378, CCDS77530
Canonical transcript exons
ENST00000248450 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000785678 | 218265579 | 218265682 |
| ENSE00000876140 | 218265831 | 218265946 |
| ENSE00001721960 | 218264129 | 218264608 |
| ENSE00001852820 | 218269966 | 218270137 |
| ENSE00003486562 | 218266443 | 218266587 |
| ENSE00003553930 | 218265371 | 218265461 |
| ENSE00003607332 | 218265020 | 218265174 |
| ENSE00003619314 | 218266847 | 218266986 |
| ENSE00003621040 | 218266064 | 218266147 |
| ENSE00003671189 | 218269382 | 218269534 |
| ENSE00003687437 | 218267494 | 218267613 |
Expression profiles
Bgee: expression breadth ubiquitous, 283 present calls, max score 97.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 60.6162 / max 537.5614, expressed in 1826 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 33939 | 59.8701 | 1826 |
| 33937 | 0.4629 | 250 |
| 33938 | 0.2832 | 132 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of stomach | UBERON:0001161 | 97.85 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.83 | gold quality |
| left ovary | UBERON:0002119 | 97.61 | gold quality |
| right ovary | UBERON:0002118 | 97.49 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.15 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.07 | gold quality |
| transverse colon | UBERON:0001157 | 97.06 | gold quality |
| skin of leg | UBERON:0001511 | 96.96 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.94 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 96.85 | gold quality |
| skin of abdomen | UBERON:0001416 | 96.77 | gold quality |
| endocervix | UBERON:0000458 | 96.76 | gold quality |
| gall bladder | UBERON:0002110 | 96.74 | gold quality |
| body of pancreas | UBERON:0001150 | 96.73 | gold quality |
| apex of heart | UBERON:0002098 | 96.73 | gold quality |
| left uterine tube | UBERON:0001303 | 96.71 | gold quality |
| stomach | UBERON:0000945 | 96.70 | gold quality |
| ectocervix | UBERON:0012249 | 96.69 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.65 | gold quality |
| body of uterus | UBERON:0009853 | 96.63 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.58 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.55 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.49 | gold quality |
| pituitary gland | UBERON:0000007 | 96.48 | gold quality |
| right uterine tube | UBERON:0001302 | 96.48 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.47 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.46 | gold quality |
| omental fat pad | UBERON:0010414 | 96.44 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.43 | gold quality |
| peritoneum | UBERON:0002358 | 96.41 | 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)
32 targeting AAMP, 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-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-3609 | 99.52 | 69.89 | 2587 |
| HSA-MIR-548AH-5P | 99.52 | 69.73 | 2626 |
| HSA-MIR-642A-5P | 99.51 | 65.10 | 1152 |
| HSA-MIR-302B-5P | 99.50 | 69.49 | 1857 |
| HSA-MIR-302D-5P | 99.50 | 69.34 | 1863 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-4284 | 99.36 | 65.25 | 1293 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-7515 | 99.31 | 68.22 | 1795 |
| HSA-MIR-3692-5P | 99.29 | 67.04 | 1421 |
| HSA-MIR-1253 | 99.12 | 67.08 | 1688 |
| HSA-MIR-877-3P | 99.09 | 68.10 | 1637 |
| HSA-MIR-4709-3P | 98.88 | 68.04 | 1594 |
| HSA-MIR-12126 | 98.09 | 64.82 | 637 |
| HSA-MIR-634 | 97.74 | 67.11 | 818 |
| HSA-MIR-1226-3P | 97.51 | 66.32 | 1063 |
| HSA-MIR-939-5P | 97.10 | 65.80 | 1579 |
| HSA-MIR-1343-5P | 96.48 | 66.06 | 1506 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 92.4% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 10)
- Drosophila miR-14 regulates context-specific autophagy through its target, inositol 1,4,5-trisphosphate kinase 2 (ip3k2). (PMID:25306920)
- The DEAD-box helicase Hlc regulates basal transcription and chromatin opening of stress-responsive genes. (PMID:35950495)
- important functional role of AAMP in the migration of smooth muscle cells (SMCs), identifying AAMP as a potential target to limit lesion formation after injury. (PMID:18634987)
- Data support a new function of AAMP in regulating innate immune responses initiated by the NLR protein Nod2. (PMID:19535145)
- angio-associated migratory cell protein was identified as a novel interacting partner of both TPalpha and TPbeta isoforms of the thromboxane A2 receptor (PMID:21172430)
- High levels of AAMP levels were associated with breast cancer progression and metastasis (PMID:23564791)
- AAMP Regulates Endothelial Cell Migration and Angiogenesis Through RhoA/Rho Kinase Signaling. (PMID:26350504)
- Angio-associated migratory cell protein interacts with epidermal growth factor receptor and enhances proliferation and drug resistance in human non-small cell lung cancer cells. (PMID:31075398)
- Angio-associated migratory cell protein (AAMP) interacts with cell division cycle 42 (CDC42) and enhances migration and invasion in human non-small cell lung cancer cells. (PMID:33279622)
- A crucial exosome-related gene pair (AAMP and ABAT) is associated with inflammatory cells in intervertebral disc degeneration. (PMID:37122729)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | aamp | ENSDARG00000045019 |
| mus_musculus | Aamp | ENSMUSG00000006299 |
| rattus_norvegicus | Aamp | ENSRNOG00000014399 |
| drosophila_melanogaster | CG5114 | FBGN0036460 |
| caenorhabditis_elegans | WBGENE00013735 |
Paralogs (1): NWD2 (ENSG00000174145)
Protein
Protein identifiers
Angio-associated migratory cell protein — Q13685 (reviewed: Q13685)
All UniProt accessions (5): Q13685, C9JEH3, C9JG97, C9JTS3, H7C0R2
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in angiogenesis and cell migration. In smooth muscle cell migration, may act through the RhoA pathway.
Subcellular location. Cell membrane. Cytoplasm.
Tissue specificity. Expressed in metastatic melanoma, liver, skin, kidney, heart, lung, lymph node, skeletal muscle and brain, and also in A2058 melanoma cells and activated T-cells (at protein level). Expressed in blood vessels. Strongly expressed in endothelial cells, cytotrophoblasts, and poorly differentiated. colon adenocarcinoma cells found in lymphatics.
RefSeq proteins (2): NP_001078, NP_001289474 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR051179 | WD_repeat_multifunction | Family |
Pfam: PF00400
UniProt features (13 total): repeat 8, chain 1, compositionally biased region 1, modified residue 1, sequence variant 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13685-F1 | 84.55 | 0.75 |
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 (1): 20
Function
Pathways and Gene Ontology
Reactome pathways
12 pathways
| ID | Pathway |
|---|---|
| R-HSA-168638 | NOD1/2 Signaling Pathway |
| R-HSA-177929 | Signaling by EGFR |
| R-HSA-194138 | Signaling by VEGF |
| R-HSA-428930 | Thromboxane signalling through TP receptor |
| R-HSA-109582 | Hemostasis |
| R-HSA-162582 | Signal Transduction |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-168643 | Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways |
| R-HSA-392518 | Signal amplification |
| R-HSA-76002 | Platelet activation, signaling and aggregation |
| R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
MSigDB gene sets: 174 (showing top):
REACTOME_INNATE_IMMUNE_SYSTEM, PAX4_01, REACTOME_NOD1_2_SIGNALING_PATHWAY, REACTOME_NUCLEOTIDE_BINDING_DOMAIN_LEUCINE_RICH_REPEAT_CONTAINING_RECEPTOR_NLR_SIGNALING_PATHWAYS, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOCC_CELL_SURFACE, HSIAO_HOUSEKEEPING_GENES, AACYNNNNTTCCS_UNKNOWN, TGACCTY_ERR1_Q2, GGGTGGRR_PAX4_03, AACWWCAANK_UNKNOWN, GOBP_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION, IRF7_01, CEBP_Q2
GO Biological Process (4): angiogenesis (GO:0001525), positive regulation of endothelial cell migration (GO:0010595), smooth muscle cell migration (GO:0014909), cell differentiation (GO:0030154)
GO Molecular Function (2): heparin binding (GO:0008201), protein binding (GO:0005515)
GO Cellular Component (7): cytosol (GO:0005829), plasma membrane (GO:0005886), cell surface (GO:0009986), microtubule cytoskeleton (GO:0015630), intercellular bridge (GO:0045171), cytoplasm (GO:0005737), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-8 pathways:
| Category | Pathways |
|---|---|
| Signaling by Receptor Tyrosine Kinases | 2 |
| Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways | 1 |
| Signal amplification | 1 |
| Immune System | 1 |
| Innate Immune System | 1 |
| Platelet activation, signaling and aggregation | 1 |
| Hemostasis | 1 |
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| blood vessel morphogenesis | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| regulation of endothelial cell migration | 1 |
| positive regulation of cell migration | 1 |
| endothelial cell migration | 1 |
| muscle cell migration | 1 |
| cellular developmental process | 1 |
| glycosaminoglycan binding | 1 |
| sulfur compound binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cytoskeleton | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1614 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AAMP | NOD2 | Q9HC29 | 542 |
| AAMP | TBXA2R | P21731 | 525 |
| AAMP | PUM1 | Q14671 | 509 |
| AAMP | ARPC2 | O15144 | 494 |
| AAMP | SMIM9 | A6NGZ8 | 445 |
| AAMP | ERBIN | Q96RT1 | 445 |
| AAMP | ZNF48 | Q96MX3 | 430 |
| AAMP | LSG1 | Q9H089 | 419 |
| AAMP | RAB29 | O14966 | 405 |
| AAMP | NMD3 | Q96D46 | 388 |
| AAMP | MRTO4 | Q9UKD2 | 374 |
| AAMP | DRGX | A6NNA5 | 363 |
| AAMP | RWDD1 | Q9H446 | 362 |
| AAMP | ZNF428 | Q96B54 | 358 |
| AAMP | GRWD1 | Q9BQ67 | 353 |
IntAct
31 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| S100B | S100A4 | psi-mi:“MI:0914”(association) | 0.870 |
| AAMP | AEN | psi-mi:“MI:0915”(physical association) | 0.670 |
| AEN | AAMP | psi-mi:“MI:0915”(physical association) | 0.570 |
| AAMP | GABARAPL2 | psi-mi:“MI:0915”(physical association) | 0.550 |
| PTPRU | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| MKLN1 | HTRA2 | psi-mi:“MI:0914”(association) | 0.510 |
| VPS52 | AAMP | psi-mi:“MI:0915”(physical association) | 0.370 |
| BHLHE40 | AAMP | psi-mi:“MI:0915”(physical association) | 0.370 |
| C8orf33 | AAMP | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAP1LC3B | AAMP | psi-mi:“MI:0915”(physical association) | 0.370 |
| AAMP | TK1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| AAMP | RPL10 | psi-mi:“MI:0914”(association) | 0.350 |
| FXR2 | RPS21 | psi-mi:“MI:0914”(association) | 0.350 |
| GABARAPL2 | psi-mi:“MI:0914”(association) | 0.350 | |
| AAMP | PRPF40A | psi-mi:“MI:0914”(association) | 0.350 |
| DKC1 | U2SURP | psi-mi:“MI:0914”(association) | 0.350 |
| AAMP | ASAH1 | psi-mi:“MI:0914”(association) | 0.350 |
| C1orf54 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHGB4 | AAMP | psi-mi:“MI:0914”(association) | 0.350 |
| PMFBP1 | AAMP | psi-mi:“MI:0915”(physical association) | 0.000 |
| AAMP | MMADHC | psi-mi:“MI:0915”(physical association) | 0.000 |
| AAMP | MKLN1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| AEN | AAMP | psi-mi:“MI:0915”(physical association) | 0.000 |
| melB1 | AAMP | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (106): VPS52 (Two-hybrid), BHLHE40 (Two-hybrid), AEN (Two-hybrid), AAMP (Two-hybrid), AAMP (Affinity Capture-MS), AAMP (Affinity Capture-MS), RPL10 (Affinity Capture-MS), DICER1 (Affinity Capture-MS), WNK1 (Affinity Capture-MS), PPP2R2D (Affinity Capture-MS), PTPRU (Affinity Capture-MS), ASAH1 (Affinity Capture-MS), ACE2 (Affinity Capture-MS), TCF25 (Affinity Capture-MS), INPP5K (Affinity Capture-MS)
ESM2 similar proteins: A1L112, A4IHS2, A8NZM5, B2ZZS9, O00423, O80775, O95834, P93107, P97452, Q05BC3, Q0DYP5, Q13216, Q13610, Q13685, Q15269, Q1JQD2, Q2HJ56, Q32KQ2, Q32P44, Q3SZK1, Q4V8C3, Q562C2, Q58DT8, Q5BIM8, Q5F3K4, Q5R9T6, Q5RCG7, Q5RFQ3, Q5VU92, Q5XI13, Q5ZK69, Q6DRF9, Q6P6T4, Q6PFM9, Q7TNG5, Q7YR70, Q810D6, Q8BH57, Q8BHB4, Q8BU03
Diamond homologs: A0A1P8AW69, F4HTH8, F4KB17, O61585, Q13685, Q3SZK1, Q4V7Y7, Q5RCG7, Q5ZIU8, Q6NVM2, Q7YR70, Q7ZUV2, Q8BG40, Q8H0T9, Q9BVA0, O14301, O93277, O94620, P39706, P46680, P54686, P90587, Q11176, Q6DIF4, Q6PAX7, Q9LV35, Q9VU68, Q9W7F2, Q9ZU34, A0CH87, A0DB19, B3MRC6, B4JWS7, C5FWH1, D4AZ50, D4DG66, O14727, O88879, P41838, P49026
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
72 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 8 |
| Likely pathogenic | 2 |
| Uncertain significance | 52 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (10)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1526950 | GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) | Pathogenic |
| 2580353 | GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 | Pathogenic |
| 2685875 | GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 | Pathogenic |
| 4682551 | GRCh37/hg19 2q33.3-37.3(chr2:206965837-242783384)x3 | Pathogenic |
| 562677 | GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 | Pathogenic |
| 59158 | GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 | Pathogenic |
| 638100 | GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 | Pathogenic |
| 816573 | GRCh37/hg19 2q35(chr2:216883237-220953003)x3 | Pathogenic |
| 625776 | GRCh37/hg19 2q35(chr2:218271898-219825640) | Likely pathogenic |
| 980004 | GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 | Likely pathogenic |
SpliceAI
1861 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:218265015:CTTA:C | donor_gain | 1.0000 |
| 2:218265017:TA:T | donor_loss | 1.0000 |
| 2:218265018:A:AC | donor_gain | 1.0000 |
| 2:218265018:ACTTG:A | donor_gain | 1.0000 |
| 2:218265019:C:CT | donor_gain | 1.0000 |
| 2:218265019:CT:C | donor_gain | 1.0000 |
| 2:218265019:CTT:C | donor_gain | 1.0000 |
| 2:218265019:CTTG:C | donor_gain | 1.0000 |
| 2:218265019:CTTGC:C | donor_gain | 1.0000 |
| 2:218265170:CCCGA:C | acceptor_gain | 1.0000 |
| 2:218265171:CCGA:C | acceptor_gain | 1.0000 |
| 2:218265171:CCGAC:C | acceptor_gain | 1.0000 |
| 2:218265172:CGAC:C | acceptor_gain | 1.0000 |
| 2:218265175:C:CC | acceptor_gain | 1.0000 |
| 2:218265181:C:CT | acceptor_gain | 1.0000 |
| 2:218265181:C:T | acceptor_gain | 1.0000 |
| 2:218265182:G:T | acceptor_gain | 1.0000 |
| 2:218265467:C:CT | acceptor_gain | 1.0000 |
| 2:218265573:A:AC | donor_gain | 1.0000 |
| 2:218265574:C:CC | donor_gain | 1.0000 |
| 2:218265578:CA:C | donor_gain | 1.0000 |
| 2:218265578:CACA:C | donor_gain | 1.0000 |
| 2:218265827:TCACC:T | donor_loss | 1.0000 |
| 2:218265828:CACC:C | donor_loss | 1.0000 |
| 2:218265829:A:AC | donor_gain | 1.0000 |
| 2:218265829:A:T | donor_loss | 1.0000 |
| 2:218265830:C:CC | donor_gain | 1.0000 |
| 2:218265830:C:CT | donor_loss | 1.0000 |
| 2:218265830:CCTTG:C | donor_gain | 1.0000 |
| 2:218266087:C:A | donor_gain | 1.0000 |
AlphaMissense
2847 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:218266578:A:G | W182R | 1.000 |
| 2:218266578:A:T | W182R | 1.000 |
| 2:218264557:A:C | F427L | 0.999 |
| 2:218264557:A:T | F427L | 0.999 |
| 2:218264558:A:G | F427S | 0.999 |
| 2:218264559:A:G | F427L | 0.999 |
| 2:218265096:A:G | W385R | 0.999 |
| 2:218265096:A:T | W385R | 0.999 |
| 2:218265447:G:T | A333D | 0.999 |
| 2:218266129:C:T | G233D | 0.999 |
| 2:218266521:A:G | W201R | 0.999 |
| 2:218266521:A:T | W201R | 0.999 |
| 2:218266547:C:T | G192D | 0.999 |
| 2:218266576:C:A | W182C | 0.999 |
| 2:218266576:C:G | W182C | 0.999 |
| 2:218266587:A:G | W179R | 0.999 |
| 2:218266587:A:T | W179R | 0.999 |
| 2:218266914:C:T | G156D | 0.999 |
| 2:218266932:G:T | A150D | 0.999 |
| 2:218266955:G:C | F142L | 0.999 |
| 2:218266955:G:T | F142L | 0.999 |
| 2:218266956:A:G | F142S | 0.999 |
| 2:218266957:A:G | F142L | 0.999 |
| 2:218266971:A:T | V137E | 0.999 |
| 2:218266974:G:A | S136F | 0.999 |
| 2:218267551:C:G | D113H | 0.999 |
| 2:218267559:C:T | G110E | 0.999 |
| 2:218267560:C:A | G110W | 0.999 |
| 2:218267603:A:C | F95L | 0.999 |
| 2:218267603:A:T | F95L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000339013 (2:218271072 C>T), RS1000370456 (2:218270761 C>G,T), RS1000827608 (2:218266319 C>A,G), RS1000880141 (2:218264730 G>A), RS1001583154 (2:218271878 A>G), RS1001648395 (2:218268434 G>C), RS1002430778 (2:218263853 G>A), RS1002832194 (2:218269002 T>C,G), RS1003484082 (2:218264988 C>T), RS1003589612 (2:218271032 G>A,C,T), RS1003641757 (2:218270677 G>A,T), RS1003944149 (2:218264672 A>T), RS1004219663 (2:218270477 C>A), RS1004243535 (2:218264598 G>A), RS1004791945 (2:218271542 C>G)
Disease associations
OMIM: gene MIM:603488 | 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 |
|---|---|---|
| GCST000964_14 | Ulcerative colitis | 1.000000e-10 |
| GCST001896_9 | Smooth-surface caries | 2.000000e-06 |
| GCST004131_76 | Inflammatory bowel disease | 2.000000e-07 |
| GCST90002379_33 | Basophil count | 2.000000e-12 |
| GCST90002398_115 | Neutrophil count | 1.000000e-14 |
| GCST90013407_19 | Liver enzyme levels (gamma-glutamyl transferase) | 6.000000e-24 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005090 | basophil count |
| EFO:0004833 | neutrophil count |
| EFO:0004532 | serum gamma-glutamyl transferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects cotreatment, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| potassium perchlorate | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| bicalutamide | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| 2-amino-14,16-dimethyloctadecan-3-ol | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Oxaliplatin | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diethylstilbestrol | increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ketoconazole | increases expression | 1 |
| Nickel | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Progesterone | increases expression | 1 |
| Rotenone | decreases expression | 1 |
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): smooth surface dental caries