AMIGO2
gene geneOn this page
Also known as ALI1DEGA
Summary
AMIGO2 (adhesion molecule with Ig like domain 2, HGNC:24073) is a protein-coding gene on chromosome 12q13.11, encoding Amphoterin-induced protein 2 (Q86SJ2). Required for depolarization-dependent survival of cultured cerebellar granule neurons.
Predicted to be involved in several processes, including heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; homophilic cell adhesion via plasma membrane adhesion molecules; and positive regulation of synapse assembly. Predicted to be located in nucleus and plasma membrane. Predicted to be active in membrane. Biomarker of gastric adenocarcinoma.
Source: NCBI Gene 347902 — RefSeq curated summary.
At a glance
- Gene–disease (curated): craniofacial microsomia (Limited, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 74 total — 1 pathogenic
- MANE Select transcript:
NM_001370299
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24073 |
| Approved symbol | AMIGO2 |
| Name | adhesion molecule with Ig like domain 2 |
| Location | 12q13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ALI1, DEGA |
| Ensembl gene | ENSG00000139211 |
| Ensembl biotype | protein_coding |
| OMIM | 615690 |
| Entrez | 347902 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 12 protein_coding
ENST00000266581, ENST00000429635, ENST00000550413, ENST00000872221, ENST00000872222, ENST00000872223, ENST00000872224, ENST00000872225, ENST00000872226, ENST00000962916, ENST00000962917, ENST00000962918
RefSeq mRNA: 3 — MANE Select: NM_001370299
NM_001143668, NM_001370299, NM_181847
CCDS: CCDS8751
Canonical transcript exons
ENST00000550413 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002354530 | 47079462 | 47079959 |
| ENSE00002392496 | 47079142 | 47079248 |
| ENSE00002413473 | 47076447 | 47079065 |
Expression profiles
Bgee: expression breadth ubiquitous, 271 present calls, max score 99.28.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.3244 / max 398.6528, expressed in 1302 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 130651 | 7.0576 | 1085 |
| 130645 | 2.0803 | 839 |
| 130648 | 1.8040 | 650 |
| 130654 | 0.5374 | 310 |
| 130653 | 0.4863 | 280 |
| 130649 | 0.3284 | 199 |
| 130650 | 0.2575 | 144 |
| 130643 | 0.2204 | 108 |
| 130647 | 0.2101 | 126 |
| 130644 | 0.1200 | 79 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood vessel layer | UBERON:0004797 | 99.28 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 98.53 | gold quality |
| renal glomerulus | UBERON:0000074 | 97.79 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 97.43 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 96.89 | gold quality |
| mammary duct | UBERON:0001765 | 96.83 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.00 | gold quality |
| visceral pleura | UBERON:0002401 | 95.80 | gold quality |
| popliteal artery | UBERON:0002250 | 95.41 | gold quality |
| tibial artery | UBERON:0007610 | 95.39 | gold quality |
| artery | UBERON:0001637 | 94.87 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 93.88 | gold quality |
| mammary gland | UBERON:0001911 | 93.77 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 93.71 | gold quality |
| left uterine tube | UBERON:0001303 | 93.28 | gold quality |
| saphenous vein | UBERON:0007318 | 93.19 | gold quality |
| aorta | UBERON:0000947 | 92.96 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.89 | gold quality |
| caput epididymis | UBERON:0004358 | 92.58 | gold quality |
| pleura | UBERON:0000977 | 92.00 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 91.62 | gold quality |
| left coronary artery | UBERON:0001626 | 91.60 | gold quality |
| cranial nerve II | UBERON:0000941 | 91.53 | gold quality |
| hair follicle | UBERON:0002073 | 91.41 | gold quality |
| coronary artery | UBERON:0001621 | 91.32 | gold quality |
| right coronary artery | UBERON:0001625 | 91.26 | gold quality |
| metanephros | UBERON:0000081 | 91.20 | gold quality |
| endothelial cell | CL:0000115 | 91.05 | gold quality |
| seminal vesicle | UBERON:0000998 | 91.01 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 90.80 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-7 | yes | 413.00 |
| E-ENAD-21 | yes | 409.50 |
| E-ANND-3 | yes | 10.48 |
| E-MTAB-5061 | yes | 9.62 |
| E-GEOD-81608 | yes | 5.42 |
| E-ENAD-27 | yes | 4.37 |
| E-MTAB-8060 | no | 491.46 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): RELA
miRNA regulators (miRDB)
90 targeting AMIGO2, 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-3646 | 100.00 | 73.56 | 5283 |
| 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-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| 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-526B-3P | 99.88 | 74.06 | 2587 |
| 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-7845-5P | 99.88 | 64.88 | 771 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-489-3P | 99.80 | 66.46 | 839 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-4658 | 99.77 | 64.94 | 514 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
Literature-anchored findings (GeneRIF, showing 13)
- Expression of ali1 promotes depolarization-dependent survival of cerebellar granule neurons. Mouse ali1 mapped to a chromosome 15 locus syntenic to candidate loci for familial Alzheimer’s disease type 5 and Parkinson’s disease 8 on human chromosome 12. (PMID:12843293)
- Stable expression of a DEGA/AMIGO-2 antisense construct led to altered morphology, increased ploidy, chromosomal instability, decreased cell adhesion/migration, and a nearly complete abrogation of tumorigenicity in nude mice. (PMID:15107827)
- AMIGO2 is an important regulator of the PDK1-Akt pathway. (PMID:26553931)
- Amigo2, which is a member of the Amigo family that shows high species conservation, may be involved in determining liver metastasis by preferential adhesion of the tumour cells to liver endothelial cells. (PMID:28272394)
- this study uncovers mechanisms underlying the therapeutic effects of BETi in melanoma and reveals the AMIGO2-PTK7 axis as a targetable pathway for metastatic melanoma. (PMID:29149598)
- AMIGO2 Expression as a Potential Prognostic Biomarker for Gastric Cancer. (PMID:33288564)
- In vivo selection of highly metastatic human ovarian cancer sublines reveals role for AMIGO2 in intra-peritoneal metastatic regulation. (PMID:33524500)
- AMIGO2 contained in cancer cell-derived extracellular vesicles enhances the adhesion of liver endothelial cells to cancer cells. (PMID:35039535)
- The impact of AMIGO2 on prognosis and hepatic metastasis in gastric cancer patients. (PMID:35296279)
- Liver Metastasis Formation Is Defined by AMIGO2 Expression via Adhesion to Hepatic Endothelial Cells in Human Gastric and Colorectal Cancer Cells. (PMID:35843033)
- AMIGO2 attenuates innate cisplatin sensitivity by suppression of GSDME-conferred pyroptosis in non-small cell lung cancer. (PMID:37438979)
- AMIGO2 is a pivotal therapeutic target related to M2 polarization of macrophages in pancreatic ductal adenocarcinoma. (PMID:38189855)
- AMIGO2 is involved in the spread of peritoneal metastasis in serous ovarian cancer via promoting adhesion to the peritoneal mesothelial cells. (PMID:38811439)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Amigo2 | ENSMUSG00000048218 |
| rattus_norvegicus | Amigo2 | ENSRNOG00000007032 |
Paralogs (2): AMIGO3 (ENSG00000176020), AMIGO1 (ENSG00000181754)
Protein
Protein identifiers
Amphoterin-induced protein 2 — Q86SJ2 (reviewed: Q86SJ2)
Alternative names: AMIGO-2, Alivin-1, Differentially expressed in gastric adenocarcinomas
All UniProt accessions (1): Q86SJ2
UniProt curated annotations — full annotation on UniProt →
Function. Required for depolarization-dependent survival of cultured cerebellar granule neurons. May mediate homophilic as well as heterophilic cell-cell interaction with AMIGO1 or AMIGO3. May contribute to signal transduction through its intracellular domain. May be required for tumorigenesis of a subset of gastric adenocarcinomas.
Subunit / interactions. Binds itself as well as AMIGO1 and AMIGO3.
Subcellular location. Cell membrane. Nucleus.
Tissue specificity. Highest levels in breast, ovary, cervix, and uterus. Lower levels in lung, colon, and rectum. Differentially expressed in 56% of thyroid, 57% of pancreatic and 45% of stomach cancers.
Similarity. Belongs to the immunoglobulin superfamily. AMIGO family.
RefSeq proteins (3): NP_001137140, NP_001357228, NP_862830 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000483 | Cys-rich_flank_reg_C | Domain |
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR031283 | AMIGO | Family |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
Pfam: PF13855, PF13927
UniProt features (28 total): glycosylation site 8, repeat 6, disulfide bond 5, domain 3, topological domain 2, signal peptide 1, chain 1, region of interest 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86SJ2-F1 | 75.93 | 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.
Disulfide bonds (5): 41–47, 45–54, 232–260, 234–282, 310–363
Glycosylation sites (8): 58, 104, 281, 288, 345, 373, 381, 384
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-9013149 | RAC1 GTPase cycle |
| R-HSA-9013423 | RAC3 GTPase cycle |
| R-HSA-162582 | Signal Transduction |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-9012999 | RHO GTPase cycle |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
MSigDB gene sets: 227 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, LI_CISPLATIN_RESISTANCE_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_HETEROPHILIC_CELL_CELL_ADHESION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_SYNAPSE_ASSEMBLY, FISCHER_G1_S_CELL_CYCLE, BOYAULT_LIVER_CANCER_SUBCLASS_G2, GOBP_POSITIVE_REGULATION_OF_SYNAPSE_ASSEMBLY, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_SUSTAINDED_IN_ERYTHROCYTE_UP, GOBP_CELL_CELL_ADHESION
GO Biological Process (6): homophilic cell-cell adhesion (GO:0007156), heterophilic cell-cell adhesion (GO:0007157), brain development (GO:0007420), negative regulation of programmed cell death (GO:0043069), positive regulation of synapse assembly (GO:0051965), cell adhesion (GO:0007155)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 2 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Signaling by Rho GTPases | 1 |
| Signal Transduction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell-cell adhesion | 2 |
| central nervous system development | 1 |
| animal organ development | 1 |
| head development | 1 |
| programmed cell death | 1 |
| regulation of programmed cell death | 1 |
| negative regulation of cellular process | 1 |
| synapse assembly | 1 |
| positive regulation of nervous system development | 1 |
| regulation of synapse assembly | 1 |
| positive regulation of cell junction assembly | 1 |
| cellular process | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1108 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AMIGO2 | B3GNT5 | Q9BYG0 | 588 |
| AMIGO2 | RGS14 | O43566 | 546 |
| AMIGO2 | SERPING1 | P05155 | 546 |
| AMIGO2 | PCP4 | P48539 | 494 |
| AMIGO2 | EMP1 | P54849 | 479 |
| AMIGO2 | TM4SF1 | P30408 | 447 |
| AMIGO2 | CLDN2 | P57739 | 396 |
| AMIGO2 | RND3 | P52199 | 388 |
| AMIGO2 | TSHZ1 | Q6ZSZ6 | 385 |
| AMIGO2 | SLC10A6 | Q3KNW5 | 383 |
| AMIGO2 | FKBP5 | Q13451 | 360 |
| AMIGO2 | SRGN | P10124 | 355 |
| AMIGO2 | FBLN5 | Q9UBX5 | 354 |
| AMIGO2 | CD109 | Q6YHK3 | 340 |
| AMIGO2 | NECAB2 | Q7Z6G3 | 319 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TMED8 | AMIGO2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CNPY3 | LRIG2 | psi-mi:“MI:0914”(association) | 0.530 |
| LDLRAD1 | ADAM10 | psi-mi:“MI:0914”(association) | 0.530 |
| AMIGO2 | CACNA1A | psi-mi:“MI:0915”(physical association) | 0.510 |
| CACNA1A | AMIGO2 | psi-mi:“MI:0915”(physical association) | 0.510 |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| TNFRSF10A | psi-mi:“MI:0914”(association) | 0.350 | |
| CLGN | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| LAMP1 | PIPSL | psi-mi:“MI:2364”(proximity) | 0.270 |
| TMED8 | AMIGO2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (62): AMIGO2 (Co-fractionation), AMIGO2 (Affinity Capture-MS), AMIGO2 (Proximity Label-MS), AMIGO2 (Proximity Label-MS), AMIGO2 (Affinity Capture-Western), AMIGO1 (Affinity Capture-Western), AMIGO2 (Affinity Capture-Western), AMIGO3 (Affinity Capture-Western), AMIGO2 (Affinity Capture-Western), AMIGO2 (Proximity Label-MS), AMIGO2 (Two-hybrid), AMIGO2 (Affinity Capture-MS), AMIGO2 (Affinity Capture-MS), AMIGO2 (Affinity Capture-MS), AMIGO2 (Proximity Label-MS)
ESM2 similar proteins: A1A4H9, A2ARI4, A6NDA9, B0BLW3, B4F7C5, D3ZAL8, D3ZTV3, D4A6D8, D4A7P2, E7FE13, F1MT22, O14498, O43155, O43300, P0DM44, P83286, Q149C3, Q5NVQ6, Q5R6B1, Q5R7M3, Q5RAC4, Q6PFC5, Q6RKD8, Q80WD0, Q80XG9, Q80ZD7, Q80ZD8, Q80ZD9, Q810C0, Q810C1, Q86SJ2, Q86UE6, Q86UN2, Q86VH4, Q86VH5, Q86WK6, Q8BGA3, Q8BLU0, Q8BZ81, Q8C2S7
Diamond homologs: O88280, Q5R7M3, Q6WRI0, Q7TNJ4, Q80ZD5, Q80ZD7, Q80ZD8, Q80ZD9, Q86SJ2, Q86WK6, Q86WK7, Q8C2S7, Q96JA1, Q13308, Q4R8Y9, Q8BKG3, O75093, O75094, O88279, O94813, Q3URE9, Q6P3Y9, Q80TR4, Q9R1B9, Q9WVC1, G5EFX6, P21793, Q6P1C6, Q6UXM1, Q9TTE2, Q9WVB4, Q9XSD9, P70193, A6H789, E5DHB5, Q8VCH9, Q96PB8, O02678, O46390, O46403
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
74 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 64 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1710515 | GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1 | Pathogenic |
SpliceAI
381 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:47079460:A:AC | donor_gain | 1.0000 |
| 12:47079461:C:CC | donor_gain | 1.0000 |
| 12:47079461:CGGTG:C | donor_gain | 1.0000 |
| 12:47079432:TAGCA:T | donor_gain | 0.9900 |
| 12:47079433:AGCAA:A | donor_gain | 0.9900 |
| 12:47079461:CG:C | donor_gain | 0.9900 |
| 12:47079434:G:C | donor_gain | 0.9800 |
| 12:47079455:AACTC:A | donor_loss | 0.9800 |
| 12:47079457:CTCA:C | donor_loss | 0.9800 |
| 12:47079460:A:T | donor_loss | 0.9800 |
| 12:47079461:C:A | donor_loss | 0.9800 |
| 12:47079511:T:TA | donor_gain | 0.9800 |
| 12:47079721:TGAAG:T | donor_loss | 0.9800 |
| 12:47079723:AAGG:A | donor_loss | 0.9800 |
| 12:47079724:AGG:A | donor_loss | 0.9800 |
| 12:47079725:GG:G | donor_loss | 0.9800 |
| 12:47079726:G:A | donor_loss | 0.9800 |
| 12:47079727:T:G | donor_loss | 0.9800 |
| 12:47080713:A:G | donor_gain | 0.9800 |
| 12:47079062:GAACC:G | acceptor_loss | 0.9700 |
| 12:47079067:T:G | acceptor_loss | 0.9700 |
| 12:47079454:AAACT:A | donor_loss | 0.9700 |
| 12:47079461:CGGT:C | donor_gain | 0.9700 |
| 12:47080717:GA:G | donor_gain | 0.9700 |
| 12:47079453:AAAAC:A | donor_loss | 0.9600 |
| 12:47079461:CGG:C | donor_gain | 0.9600 |
| 12:47079566:T:TA | donor_gain | 0.9600 |
| 12:47079723:A:T | donor_gain | 0.9600 |
| 12:47080712:GA:G | donor_gain | 0.9600 |
| 12:47079504:AGTG:A | donor_gain | 0.9500 |
AlphaMissense
3437 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:47077776:A:C | S409R | 0.999 |
| 12:47077776:A:T | S409R | 0.999 |
| 12:47077778:T:G | S409R | 0.999 |
| 12:47077922:A:C | Y361D | 0.998 |
| 12:47077960:A:G | L348P | 0.998 |
| 12:47078034:C:A | W323C | 0.998 |
| 12:47078034:C:G | W323C | 0.998 |
| 12:47078036:A:G | W323R | 0.998 |
| 12:47078036:A:T | W323R | 0.998 |
| 12:47077787:A:G | C406R | 0.997 |
| 12:47077914:A:C | C363W | 0.997 |
| 12:47078478:A:C | N175K | 0.997 |
| 12:47078478:A:T | N175K | 0.997 |
| 12:47078494:A:G | L170P | 0.997 |
| 12:47078566:A:G | L146P | 0.997 |
| 12:47078550:A:C | N151K | 0.996 |
| 12:47078550:A:T | N151K | 0.996 |
| 12:47078566:A:T | L146H | 0.996 |
| 12:47078638:A:G | L122P | 0.996 |
| 12:47078638:A:T | L122H | 0.996 |
| 12:47078769:G:C | N78K | 0.996 |
| 12:47078769:G:T | N78K | 0.996 |
| 12:47078779:A:G | L75P | 0.996 |
| 12:47078843:A:G | C54R | 0.996 |
| 12:47077789:G:T | A405D | 0.995 |
| 12:47077915:C:T | C363Y | 0.995 |
| 12:47077916:A:G | C363R | 0.995 |
| 12:47078560:A:G | L148P | 0.995 |
| 12:47078560:A:T | L148H | 0.995 |
| 12:47078622:A:C | N127K | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000071932 (12:47079799 G>A,T), RS1000339042 (12:47081253 T>A), RS1000368638 (12:47081006 T>C), RS1001005665 (12:47078549 G>T), RS1001479528 (12:47077895 G>A,T), RS1001671024 (12:47079798 A>G), RS1001683313 (12:47080972 G>A,C), RS1002114376 (12:47080899 T>C), RS1002414024 (12:47077368 G>A,C), RS1003195055 (12:47076065 G>C), RS1003228338 (12:47075766 G>A), RS1003827913 (12:47075925 C>A), RS1003923611 (12:47079351 G>A), RS1004827093 (12:47078330 G>A,C,T), RS1005359627 (12:47076374 T>C)
Disease associations
OMIM: gene MIM:615690 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| craniofacial microsomia | Limited | Autosomal dominant |
Mondo (1): craniofacial microsomia (MONDO:0015397)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006585_2494 | Blood protein levels | 7.000000e-07 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D006053 | Goldenhar Syndrome | C05.116.099.370.231.576.410; C05.660.207.231.576.410; C16.131.621.207.231.576.410 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
81 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 7 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 5 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 5 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 3 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression, affects expression | 3 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 3 |
| ochratoxin A | affects expression, decreases acetylation, decreases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| monomethylarsonous acid | decreases expression, increases expression | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Indomethacin | affects cotreatment, decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| Asbestos, Serpentine | affects expression, decreases methylation | 2 |
| Asbestos, Crocidolite | affects expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| TL8-506 | affects cotreatment, increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| deoxynivalenol | decreases expression | 1 |
| lead acetate | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| potassium bromate | decreases expression | 1 |
Clinical trials (associated diseases)
10 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01674439 | PHASE2 | COMPLETED | Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells |
| NCT05610878 | PHASE1 | RECRUITING | Efficacy of Preconditioned Adipose-Derived Stem Cells in Fat Grafting |
| NCT02224677 | Not specified | COMPLETED | Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) |
| NCT02494752 | Not specified | UNKNOWN | Role of Mesenchymal Stem Cells in Fat Grafting |
| NCT03806361 | Not specified | COMPLETED | Fat Grafts With Adipose-derived Regenerative Cells for Soft Tissue Reconstruction in Children |
| NCT03861650 | Not specified | COMPLETED | Evaluation of Effect of Bone Marrow Aspirate Concentrate on Distracted Mandibular Bone Properties |
| NCT03869021 | Not specified | COMPLETED | Computer Guided for Mandibular Distraction Osteogenesis |
| NCT04056858 | Not specified | COMPLETED | Study of a Candidate Gene Involved in Goldenhar Syndrome. |
| NCT04351893 | Not specified | COMPLETED | Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology |
| NCT04931056 | Not specified | COMPLETED | A Post Market Clinical Follow-up Study on Biomet Microfixation HTR PEKK (Midface), Facial & Mandibular Plates. |
Related Atlas pages
- Associated diseases: craniofacial microsomia
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): craniofacial microsomia