CADM4
gene geneOn this page
Also known as TSLL2Necl-4SynCAM4
Summary
CADM4 (cell adhesion molecule 4, HGNC:30825) is a protein-coding gene on chromosome 19q13.31, encoding Cell adhesion molecule 4 (Q8NFZ8). Involved in the cell-cell adhesion. It is a selective cancer dependency (DepMap: 10.8% of cell lines).
Enables vascular endothelial growth factor receptor 2 binding activity. Involved in several processes, including negative regulation of protein phosphorylation; regulation of Rac protein signal transduction; and regulation of wound healing. Located in cell leading edge and cell-cell contact zone.
Source: NCBI Gene 199731 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 56 total
- Cancer dependency (DepMap): dependent in 10.8% of screened cell lines
- MANE Select transcript:
NM_145296
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30825 |
| Approved symbol | CADM4 |
| Name | cell adhesion molecule 4 |
| Location | 19q13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TSLL2, Necl-4, SynCAM4 |
| Ensembl gene | ENSG00000105767 |
| Ensembl biotype | protein_coding |
| OMIM | 609744 |
| Entrez | 199731 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000222374, ENST00000593506, ENST00000904152, ENST00000904153, ENST00000904154, ENST00000904155, ENST00000904156, ENST00000904157
RefSeq mRNA: 1 — MANE Select: NM_145296
NM_145296
CCDS: CCDS12627
Canonical transcript exons
ENST00000222374 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000710805 | 43624114 | 43624242 |
| ENSE00000710809 | 43625911 | 43626001 |
| ENSE00000710810 | 43626124 | 43626288 |
| ENSE00000710812 | 43626784 | 43626918 |
| ENSE00000710813 | 43627166 | 43627318 |
| ENSE00000847433 | 43627644 | 43627790 |
| ENSE00001212252 | 43622368 | 43623439 |
| ENSE00001212255 | 43639727 | 43639850 |
| ENSE00003550743 | 43625078 | 43625250 |
Expression profiles
Bgee: expression breadth ubiquitous, 218 present calls, max score 98.69.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.4042 / max 271.3708, expressed in 988 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 181302 | 7.6248 | 982 |
| 181303 | 0.4966 | 105 |
| 181304 | 0.2828 | 84 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 98.69 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.65 | gold quality |
| nerve | UBERON:0001021 | 97.86 | gold quality |
| tibial nerve | UBERON:0001323 | 97.86 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.78 | gold quality |
| ventricular zone | UBERON:0003053 | 97.20 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.90 | gold quality |
| spinal cord | UBERON:0002240 | 96.89 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.69 | gold quality |
| nucleus accumbens | UBERON:0001882 | 96.62 | gold quality |
| amygdala | UBERON:0001876 | 96.47 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.31 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.16 | gold quality |
| sural nerve | UBERON:0015488 | 95.82 | gold quality |
| prefrontal cortex | UBERON:0000451 | 95.78 | gold quality |
| caudate nucleus | UBERON:0001873 | 95.61 | gold quality |
| putamen | UBERON:0001874 | 95.50 | gold quality |
| cingulate cortex | UBERON:0003027 | 94.36 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 94.25 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.07 | gold quality |
| cerebellum | UBERON:0002037 | 94.00 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.00 | gold quality |
| ventral tegmental area | UBERON:0002691 | 93.85 | gold quality |
| pons | UBERON:0000988 | 92.97 | gold quality |
| pituitary gland | UBERON:0000007 | 92.96 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 92.71 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 92.66 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 92.45 | gold quality |
| neocortex | UBERON:0001950 | 92.34 | gold quality |
| telencephalon | UBERON:0001893 | 92.18 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.84 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
74 targeting CADM4, 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-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-518A-5P | 99.70 | 69.01 | 2209 |
| HSA-MIR-527 | 99.70 | 69.01 | 2209 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 10.8% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 11)
- TSLL2 is expressed at the cell-cell attachment sites in the renal tubules, the transitional epithelia of the bladder, and the glandular epithelia of the prostate, and is a tumor-suppressor candidate in prostate cancer. (PMID:16261159)
- Nec- 4 suppress the growth and tumorigenic ability of colon cancer cells. (PMID:19565570)
- CADM4, as well as 4.1B is expressed specifically in human proximal tubules. (PMID:21544807)
- Loss or decrease of CADM4 expression seems to play an important role in breast cancer invasiveness, and it is associated with poorer biological parameters. (PMID:23559354)
- results indicate that Necl-4 serves as a tumor suppressor by inhibiting the ErbB2/ErbB3 signaling and hemidesmosome disassembly (PMID:23611113)
- Cadm4 regulates the growth of the myelin unit and the organization of the underlying axonal membrane. (PMID:23825401)
- Necl-4 serves as a novel regulator for contact inhibition of cell movement and proliferation cooperatively with the VEGF receptor and PTPN13 (PMID:25893857)
- There was a significant association between RNase 5 and histological differentiation in colon adenocarcinomas, but no association between RNase 5 and Necl 4 in gastric or colon adenocarcinomas (PMID:28561015)
- The results suggest that Necl-4 enhances VEGF-induced activation of PLCgamma-c-Raf-MEK-ERK pathway without affecting the phosphorylation and internalization of VEGFR2. (PMID:28601637)
- Low CADM4 expression is associated with bone marrow metastasis in neuroblastoma. (PMID:28921546)
- Cell adhesion molecule 4 suppresses cell growth and metastasis by inhibiting the Akt signaling pathway in non-small cell lung cancer. (PMID:32325280)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cadm4 | ENSDARG00000040291 |
| mus_musculus | Cadm4 | ENSMUSG00000054793 |
| rattus_norvegicus | Cadm4 | ENSRNOG00000024243 |
| drosophila_melanogaster | Fas3 | FBGN0000636 |
Paralogs (14): PVR (ENSG00000073008), CD200 (ENSG00000091972), CRTAM (ENSG00000109943), NECTIN1 (ENSG00000110400), NECTIN2 (ENSG00000130202), NECTIN4 (ENSG00000143217), CD226 (ENSG00000150637), CADM3 (ENSG00000162706), SMAGP (ENSG00000170545), CADM2 (ENSG00000175161), NECTIN3 (ENSG00000177707), TIGIT (ENSG00000181847), CADM1 (ENSG00000182985), NCR3 (ENSG00000204475)
Protein
Protein identifiers
Cell adhesion molecule 4 — Q8NFZ8 (reviewed: Q8NFZ8)
Alternative names: Immunoglobulin superfamily member 4C, Nectin-like protein 4, TSLC1-like protein 2
All UniProt accessions (1): Q8NFZ8
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the cell-cell adhesion. Has calcium- and magnesium-independent cell-cell adhesion activity. May have tumor-suppressor activity.
Subunit / interactions. Monomer and homodimer.
Subcellular location. Membrane.
Tissue specificity. Expressed in brain, prostate, brain, kidney and some other organs.
Post-translational modifications. N-glycosylated.
Similarity. Belongs to the nectin family.
RefSeq proteins (1): NP_660339* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003585 | Neurexin-like | Domain |
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013106 | Ig_V-set | Domain |
| IPR013162 | CD80_C2-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
Pfam: PF07686, PF08205, PF13927
UniProt features (16 total): glycosylation site 3, disulfide bond 3, domain 3, topological domain 2, signal peptide 1, chain 1, sequence variant 1, transmembrane region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NFZ8-F1 | 85.31 | 0.72 |
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): 361
Disulfide bonds (3): 44–104, 145–199, 245–291
Glycosylation sites (3): 67, 286, 31
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 188 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, MORF_ITGA2, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_NEGATIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION, BENPORATH_ES_WITH_H3K27ME3, GOBP_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_WOUND_HEALING, GOBP_REGULATION_OF_PHOSPHORYLATION, MORF_BRCA1, AAGCCAT_MIR135A_MIR135B, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, MORF_RAD51L3, GOBP_WOUND_HEALING
GO Biological Process (12): regulation of protein phosphorylation (GO:0001932), negative regulation of protein phosphorylation (GO:0001933), homophilic cell-cell adhesion (GO:0007156), negative regulation of peptidyl-threonine phosphorylation (GO:0010801), negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948), regulation of Rac protein signal transduction (GO:0035020), regulation of cell population proliferation (GO:0042127), negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732), regulation of wound healing (GO:0061041), negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747), regulation of cell motility (GO:2000145), cell adhesion (GO:0007155)
GO Molecular Function (5): protein phosphatase binding (GO:0019903), receptor tyrosine kinase binding (GO:0030971), vascular endothelial growth factor receptor 1 binding (GO:0043183), vascular endothelial growth factor receptor 2 binding (GO:0043184), protein binding (GO:0005515)
GO Cellular Component (3): membrane (GO:0016020), cell leading edge (GO:0031252), cell-cell contact zone (GO:0044291)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein phosphorylation | 2 |
| negative regulation of protein phosphorylation | 2 |
| negative regulation of signal transduction | 2 |
| regulation of cellular process | 2 |
| vascular endothelial growth factor receptor binding | 2 |
| cellular anatomical structure | 2 |
| regulation of protein modification process | 1 |
| regulation of phosphorylation | 1 |
| regulation of protein phosphorylation | 1 |
| negative regulation of protein modification process | 1 |
| negative regulation of phosphorylation | 1 |
| cell-cell adhesion | 1 |
| regulation of peptidyl-threonine phosphorylation | 1 |
| peptidyl-threonine phosphorylation | 1 |
| regulation of vascular endothelial growth factor receptor signaling pathway | 1 |
| vascular endothelial growth factor receptor signaling pathway | 1 |
| negative regulation of cellular response to growth factor stimulus | 1 |
| Rac protein signal transduction | 1 |
| regulation of small GTPase mediated signal transduction | 1 |
| cell population proliferation | 1 |
| peptidyl-tyrosine phosphorylation | 1 |
| regulation of peptidyl-tyrosine phosphorylation | 1 |
| wound healing | 1 |
| regulation of response to wounding | 1 |
| vascular endothelial growth factor signaling pathway | 1 |
| regulation of vascular endothelial growth factor signaling pathway | 1 |
| negative regulation of cellular response to vascular endothelial growth factor stimulus | 1 |
| regulation of locomotion | 1 |
| cell motility | 1 |
| cellular process | 1 |
| phosphatase binding | 1 |
| signaling receptor binding | 1 |
| protein tyrosine kinase binding | 1 |
| binding | 1 |
| cell-cell junction | 1 |
Protein interactions and networks
STRING
1040 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CADM4 | PALS2 | Q9NZW5 | 888 |
| CADM4 | CADM3 | Q8N126 | 849 |
| CADM4 | EPB41L2 | O43491 | 727 |
| CADM4 | EPB41 | P11171 | 628 |
| CADM4 | CNTNAP1 | P78357 | 593 |
| CADM4 | PTPN13 | Q12923 | 578 |
| CADM4 | MPP3 | Q13368 | 521 |
| CADM4 | NRG1 | P98202 | 519 |
| CADM4 | DLG3 | Q92796 | 499 |
| CADM4 | SLC44A1 | Q8WWI5 | 474 |
| CADM4 | CADM2 | Q8N3J6 | 462 |
| CADM4 | NFASC | O94856 | 454 |
| CADM4 | GLDN | Q6ZMI3 | 400 |
| CADM4 | CCN5 | O76076 | 399 |
| CADM4 | AFDN | P55196 | 397 |
IntAct
56 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| EPHB6 | FKBP5 | psi-mi:“MI:0914”(association) | 0.570 |
| CD69 | PALM3 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC4A | SEMA7A | psi-mi:“MI:0914”(association) | 0.530 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| TNFSF8 | LGALS8 | psi-mi:“MI:0914”(association) | 0.530 |
| NCEH1 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| TSPAN16 | CADM4 | psi-mi:“MI:0915”(physical association) | 0.500 |
| CADM2 | CADM4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CADM3 | CADM4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SDK2 | CADM4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CSNK1E | CADM4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CADM4 | DYNC1I1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CYP2S1 | MPP2 | psi-mi:“MI:0914”(association) | 0.350 |
| HEPACAM2 | TNFRSF10B | psi-mi:“MI:0914”(association) | 0.350 |
| CD81 | STX3 | psi-mi:“MI:0914”(association) | 0.350 |
| CD81 | PVR | psi-mi:“MI:0914”(association) | 0.350 |
| CD81 | CD276 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| CERS2 | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC4A | RBFOX3 | psi-mi:“MI:0914”(association) | 0.350 |
| HBG2 | RAP1BL | psi-mi:“MI:0914”(association) | 0.350 |
| SCPEP1 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (57): CADM4 (Affinity Capture-RNA), CADM4 (Affinity Capture-MS), CADM4 (Affinity Capture-MS), CADM4 (Affinity Capture-MS), CADM4 (Affinity Capture-MS), CADM4 (Affinity Capture-MS), CADM4 (Proximity Label-MS), CADM4 (Proximity Label-MS), CADM4 (Negative Genetic), CADM4 (Positive Genetic), CADM4 (Affinity Capture-MS), CADM4 (Affinity Capture-MS), CADM4 (Affinity Capture-MS), DIP2A (Affinity Capture-MS), CADM4 (Affinity Capture-MS)
ESM2 similar proteins: A0A5B9, A6NDV4, A6QLK4, B1AWJ5, E9PTA2, O75051, O94759, P01850, P01851, P01852, P01857, P01859, P01860, P01861, P01869, P01870, P01906, P01909, P03987, P06333, P0DSE2, P0DTU4, P11364, P15151, P15981, P20759, P20762, P32506, P54900, Q1WIM1, Q1WIM3, Q3TMX7, Q6P767, Q6ZRP7, Q7TQ33, Q812F8, Q8N126, Q8NFZ8, Q8R143, Q8R464
Diamond homologs: A0A0R4IGV4, P57087, P98160, Q05793, Q1WIM1, Q2WGK2, Q8NFZ8, Q8R464, Q925F2, Q9JI59, Q9XT56, Q9Y624, A0A087WV53, A1KZ92, A2AJ76, A4IFW2, A4IGL7, A6NDA9, B0BNK7, B0V2N1, D2HFT7, D3YXG0, D4A1J9, D4ABX8, F1NWE3, G5EG78, O15146, O73775, O75325, O94898, P07722, P15364, P20916, P20917, P23468, P43146, P48960, P53813, P70193, P70211
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 43 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1544 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:43623350:T:A | donor_gain | 1.0000 |
| 19:43625072:TCTCA:T | donor_loss | 1.0000 |
| 19:43625074:TCA:T | donor_loss | 1.0000 |
| 19:43625075:CA:C | donor_loss | 1.0000 |
| 19:43625076:A:AC | donor_gain | 1.0000 |
| 19:43625077:C:CC | donor_gain | 1.0000 |
| 19:43625246:TTGGC:T | acceptor_gain | 1.0000 |
| 19:43625247:TGGC:T | acceptor_gain | 1.0000 |
| 19:43625248:GGC:G | acceptor_gain | 1.0000 |
| 19:43625249:GC:G | acceptor_gain | 1.0000 |
| 19:43625250:CC:C | acceptor_gain | 1.0000 |
| 19:43625251:C:CC | acceptor_gain | 1.0000 |
| 19:43625251:C:T | acceptor_gain | 1.0000 |
| 19:43625255:G:C | acceptor_gain | 1.0000 |
| 19:43625255:G:GC | acceptor_gain | 1.0000 |
| 19:43625261:A:AC | acceptor_gain | 1.0000 |
| 19:43625261:A:C | acceptor_gain | 1.0000 |
| 19:43626122:A:AC | donor_gain | 1.0000 |
| 19:43626123:C:CC | donor_gain | 1.0000 |
| 19:43626123:CA:C | donor_gain | 1.0000 |
| 19:43626123:CACTG:C | donor_gain | 1.0000 |
| 19:43626142:A:AC | donor_gain | 1.0000 |
| 19:43626143:C:CC | donor_gain | 1.0000 |
| 19:43626779:GGTAC:G | donor_loss | 1.0000 |
| 19:43626914:GGCCA:G | acceptor_gain | 1.0000 |
| 19:43626915:GCCA:G | acceptor_gain | 1.0000 |
| 19:43626916:CCA:C | acceptor_gain | 1.0000 |
| 19:43626916:CCAC:C | acceptor_gain | 1.0000 |
| 19:43626917:CA:C | acceptor_gain | 1.0000 |
| 19:43626917:CAC:C | acceptor_gain | 1.0000 |
AlphaMissense
2493 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:43625232:C:A | W258C | 1.000 |
| 19:43625232:C:G | W258C | 1.000 |
| 19:43625233:C:G | W258S | 1.000 |
| 19:43625234:A:G | W258R | 1.000 |
| 19:43625234:A:T | W258R | 1.000 |
| 19:43626809:C:A | W158C | 1.000 |
| 19:43626809:C:G | W158C | 1.000 |
| 19:43627219:C:G | C104S | 1.000 |
| 19:43627220:A:G | C104R | 1.000 |
| 19:43627220:A:T | C104S | 1.000 |
| 19:43627237:T:A | D98V | 1.000 |
| 19:43627237:T:G | D98A | 1.000 |
| 19:43625121:A:C | N295K | 0.999 |
| 19:43625121:A:T | N295K | 0.999 |
| 19:43625134:C:G | C291S | 0.999 |
| 19:43625135:A:G | C291R | 0.999 |
| 19:43625135:A:T | C291S | 0.999 |
| 19:43625141:A:C | Y289D | 0.999 |
| 19:43625179:A:G | L276P | 0.999 |
| 19:43625920:C:T | G249E | 0.999 |
| 19:43625921:C:A | G249W | 0.999 |
| 19:43625921:C:G | G249R | 0.999 |
| 19:43625921:C:T | G249R | 0.999 |
| 19:43625933:A:G | C245R | 0.999 |
| 19:43625995:G:T | P224H | 0.999 |
| 19:43626191:A:C | C199W | 0.999 |
| 19:43626192:C:G | C199S | 0.999 |
| 19:43626192:C:T | C199Y | 0.999 |
| 19:43626193:A:G | C199R | 0.999 |
| 19:43626193:A:T | C199S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000039450 (19:43625744 C>G), RS1000175877 (19:43639337 G>C), RS1000551131 (19:43632576 G>A,C), RS1000587602 (19:43624494 G>T), RS1000675266 (19:43638984 G>T), RS1000736845 (19:43631573 A>G), RS1000988281 (19:43638150 C>G), RS1000998533 (19:43623822 C>T), RS1001152694 (19:43631198 A>G), RS1001648252 (19:43632411 G>A,C), RS1001681705 (19:43627759 C>T), RS1001687965 (19:43639616 GC>G), RS1001732679 (19:43634699 G>A,T), RS1001771885 (19:43634349 C>T), RS1002066635 (19:43641844 G>A)
Disease associations
OMIM: gene MIM:609744 | disease phenotypes: MIM:602473
GenCC curated gene-disease
Mondo (1): ethylmalonic encephalopathy (MONDO:0011229)
Orphanet (1): Ethylmalonic encephalopathy (Orphanet:51188)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C535737 | Ethylmalonic encephalopathy (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, decreases methylation, increases expression, affects cotreatment | 6 |
| trichostatin A | affects cotreatment, decreases expression, affects expression | 4 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression, affects cotreatment, increases abundance | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| pentanal | 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 |
| abrine | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic | increases abundance, increases expression, affects cotreatment | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Catechin | decreases expression, affects cotreatment | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| tert-Butylhydroperoxide | decreases expression | 1 |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00728481 | PHASE2/PHASE3 | COMPLETED | The Role Of Gastroesophageal Reflux Disease (GERD) in Eosinophilic Esophagitis |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ethylmalonic encephalopathy