TIMCC
gene geneOn this page
Also known as FLJ14668
Summary
TIMCC (TIM double twin CX3C motif chaperone, HGNC:25911) is a protein-coding gene on chromosome 2p13.3, encoding Protein FAM136A (Q96C01). It is a selective cancer dependency (DepMap: 63.7% of cell lines).
This gene encodes a mitochondrially localized protein that is highly conserved across species. The gene is expressed in a variety of tissues including human lymphoblast cells and rat neurosensorial epithelium of the cristaampullaris. A mutation in this gene has been associated with familial Meniere’s disease, a chronic disorder of the inner ear. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 84908 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Meniere disease (Limited, GenCC)
- GWAS associations: 6
- Clinical variants (ClinVar): 42 total — 1 pathogenic
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 63.7% of screened cell lines
- MANE Select transcript:
NM_001329752
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25911 |
| Approved symbol | TIMCC |
| Name | TIM double twin CX3C motif chaperone |
| Location | 2p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14668 |
| Ensembl gene | ENSG00000035141 |
| Ensembl biotype | protein_coding |
| OMIM | 616275 |
| Entrez | 84908 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 4 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron
ENST00000037869, ENST00000430566, ENST00000438759, ENST00000450256, ENST00000460307, ENST00000498665, ENST00000711613, ENST00000910310
RefSeq mRNA: 6 — MANE Select: NM_001329752
NM_001329752, NM_001329753, NM_001329755, NM_001329757, NM_001329758, NM_032822
CCDS: CCDS1904, CCDS86849
Canonical transcript exons
ENST00000430566 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001639749 | 70301604 | 70302067 |
| ENSE00001884677 | 70295976 | 70297477 |
| ENSE00003609208 | 70300840 | 70300980 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 97.14.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.6521 / max 341.5905, expressed in 1824 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 29027 | 19.9197 | 1807 |
| 29028 | 16.7325 | 1817 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 97.14 | gold quality |
| body of pancreas | UBERON:0001150 | 95.18 | gold quality |
| gingival epithelium | UBERON:0001949 | 93.49 | gold quality |
| pancreas | UBERON:0001264 | 92.97 | gold quality |
| rectum | UBERON:0001052 | 92.71 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.33 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 91.69 | gold quality |
| gingiva | UBERON:0001828 | 91.62 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 91.52 | gold quality |
| hair follicle | UBERON:0002073 | 91.51 | gold quality |
| nasopharynx | UBERON:0001728 | 91.50 | gold quality |
| duodenum | UBERON:0002114 | 91.29 | gold quality |
| right lobe of liver | UBERON:0001114 | 90.97 | gold quality |
| metanephros cortex | UBERON:0010533 | 90.76 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 90.65 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 90.64 | gold quality |
| amniotic fluid | UBERON:0000173 | 90.39 | gold quality |
| body of stomach | UBERON:0001161 | 90.26 | gold quality |
| ganglionic eminence | UBERON:0004023 | 90.22 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.12 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 90.05 | gold quality |
| ventricular zone | UBERON:0003053 | 89.98 | gold quality |
| squamous epithelium | UBERON:0006914 | 89.97 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 89.95 | gold quality |
| embryo | UBERON:0000922 | 89.81 | gold quality |
| tonsil | UBERON:0002372 | 89.74 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 89.72 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.57 | gold quality |
| caecum | UBERON:0001153 | 89.56 | gold quality |
| pylorus | UBERON:0001166 | 89.52 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 14.65 |
| E-CURD-112 | yes | 8.24 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
54 targeting TIMCC, 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-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
| HSA-MIR-623 | 99.76 | 68.16 | 1170 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-4465 | 99.71 | 72.56 | 2096 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-7161-5P | 99.68 | 68.92 | 1592 |
| HSA-MIR-548U | 99.65 | 67.78 | 1463 |
| HSA-MIR-3120-3P | 99.54 | 70.28 | 2669 |
| HSA-MIR-3923 | 99.52 | 69.21 | 446 |
| HSA-MIR-6853-3P | 99.36 | 70.79 | 1558 |
| HSA-MIR-18A-5P | 99.29 | 71.05 | 806 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 63.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- our findings suggest that novel mutations in FAM136A and DTNA genes are probably causal variants in FMD. (PMID:25305078)
- This study showed that FAM136A genes have been identified in familial Meniere’s disease. (PMID:27083884)
- FAM136A immunoreactivity is associated with nodal involvement and survival in lung adenocarcinoma in a Chinese case series. (PMID:32098576)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fam136a | ENSDARG00000098401 |
| mus_musculus | Fam136a | ENSMUSG00000057497 |
| rattus_norvegicus | Fam136a | ENSRNOG00000016273 |
| drosophila_melanogaster | CG12661 | FBGN0030071 |
| drosophila_melanogaster | CG5323 | FBGN0034362 |
| drosophila_melanogaster | CG5327 | FBGN0034363 |
| caenorhabditis_elegans | WBGENE00014022 |
Protein
Protein identifiers
Protein FAM136A — Q96C01 (reviewed: Q96C01)
All UniProt accessions (5): A0AAA9YHH4, C9J2Y4, C9JF51, E7EQY1, Q96C01
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the FAM136 family.
RefSeq proteins (6): NP_001316681, NP_001316682, NP_001316684, NP_001316686, NP_001316687, NP_116211 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008560 | DUF842_euk | Family |
Pfam: PF05811
UniProt features (6 total): modified residue 3, initiator methionine 1, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96C01-F1 | 95.42 | 0.95 |
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, 124, 126
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 80 (showing top):
GCACCTT_MIR18A_MIR18B, TGGTGCT_MIR29A_MIR29B_MIR29C, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, PATIL_LIVER_CANCER, MUELLER_PLURINET, YU_MYC_TARGETS_UP, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, MARIADASON_RESPONSE_TO_BUTYRATE_SULINDAC_4, BERENJENO_TRANSFORMED_BY_RHOA_UP, CAIRO_LIVER_DEVELOPMENT_UP, GRYDER_PAX3FOXO1_TOP_ENHANCERS, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_7, MANALO_HYPOXIA_DN, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): cytoplasm (GO:0005737), mitochondrion (GO:0005739)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
94 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FAM136A | RBFOX3 | psi-mi:“MI:0914”(association) | 0.640 |
| SPMIP9 | FAM136A | psi-mi:“MI:0915”(physical association) | 0.620 |
| NTAQ1 | FAM136A | psi-mi:“MI:0915”(physical association) | 0.560 |
| RUNX1T1 | FAM136A | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAGEB4 | FAM136A | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM136A | NTAQ1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MBD3 | FAM136A | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM136A | ANKRD11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEIS2 | FAM136A | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM136A | SMARCD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM136A | DPY30 | psi-mi:“MI:0915”(physical association) | 0.560 |
| P4HA3 | FAM136A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TTC19 | FAM136A | psi-mi:“MI:0915”(physical association) | 0.560 |
| PSMB1 | FAM136A | psi-mi:“MI:0915”(physical association) | 0.560 |
| UPK3B | AP1G2 | psi-mi:“MI:0914”(association) | 0.560 |
| STN1 | SMCO3 | psi-mi:“MI:0914”(association) | 0.530 |
| COLGALT2 | COL1A1 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM136A | PIK3C2A | psi-mi:“MI:0914”(association) | 0.530 |
| AHNAK | FAM136A | psi-mi:“MI:0915”(physical association) | 0.400 |
| FAM136A | E7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| OTUB1 | psi-mi:“MI:0914”(association) | 0.350 | |
| OTUB1 | EPM2A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (149): FAM136A (Affinity Capture-MS), FAM136A (Affinity Capture-MS), FAM136A (Affinity Capture-MS), FAM136A (Affinity Capture-MS), IDE (Affinity Capture-MS), CLPB (Affinity Capture-MS), CHCHD2 (Affinity Capture-MS), DHX30 (Affinity Capture-MS), HCCS (Affinity Capture-MS), ACSL5 (Affinity Capture-MS), CYB5R3 (Affinity Capture-MS), NDUFS6 (Affinity Capture-MS), ATP5H (Affinity Capture-MS), ECH1 (Affinity Capture-MS), BCKDHA (Affinity Capture-MS)
ESM2 similar proteins: A4QNC6, B0BN94, O74700, P0CR96, P0CR97, P0CS00, P0CS01, P30629, P62075, P62076, P62077, P62078, Q10481, Q2HJI3, Q2KIV2, Q3SZ93, Q4I6B0, Q4V7R1, Q59MI8, Q59R24, Q5ZIR8, Q616Q2, Q61TH2, Q63ZH8, Q66L32, Q6BN23, Q6BU42, Q6CM57, Q6DEM5, Q6DGJ3, Q6FK81, Q6GPY0, Q6PBU0, Q75DU7, Q7SBR3, Q8AVK1, Q90YI5, Q96C01, Q9CR98, Q9N408
Diamond homologs: A4QNC6, B0BN94, P30629, Q2HJI3, Q63ZH8, Q6PBU0, Q96C01, Q9CR98
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
42 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 21 |
| Likely benign | 6 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 140608 | NM_001329752.2(FAM136A):c.547C>T (p.Gln183Ter) | Pathogenic |
SpliceAI
401 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:70297473:CGGTC:C | acceptor_gain | 1.0000 |
| 2:70297476:TC:T | acceptor_gain | 1.0000 |
| 2:70297476:TCC:T | acceptor_loss | 1.0000 |
| 2:70297477:CC:C | acceptor_gain | 1.0000 |
| 2:70297477:CCTGT:C | acceptor_loss | 1.0000 |
| 2:70297478:C:CC | acceptor_gain | 1.0000 |
| 2:70297478:CTGTG:C | acceptor_loss | 1.0000 |
| 2:70297479:T:G | acceptor_loss | 1.0000 |
| 2:70297484:C:CT | acceptor_gain | 1.0000 |
| 2:70297485:A:T | acceptor_gain | 1.0000 |
| 2:70300836:TCA:T | donor_loss | 1.0000 |
| 2:70300837:CA:C | donor_loss | 1.0000 |
| 2:70300839:C:CG | donor_loss | 1.0000 |
| 2:70300976:AGACC:A | acceptor_gain | 1.0000 |
| 2:70300977:GACC:G | acceptor_gain | 1.0000 |
| 2:70300978:ACC:A | acceptor_gain | 1.0000 |
| 2:70300979:CC:C | acceptor_gain | 1.0000 |
| 2:70300979:CCC:C | acceptor_gain | 1.0000 |
| 2:70300980:CC:C | acceptor_gain | 1.0000 |
| 2:70300981:C:CC | acceptor_gain | 1.0000 |
| 2:70300981:C:T | acceptor_gain | 1.0000 |
| 2:70300982:T:C | acceptor_loss | 1.0000 |
| 2:70301920:GCTAC:G | donor_loss | 1.0000 |
| 2:70301921:CTA:C | donor_loss | 1.0000 |
| 2:70301923:A:C | donor_loss | 1.0000 |
| 2:70301924:C:CA | donor_loss | 1.0000 |
| 2:70301933:T:TA | donor_gain | 1.0000 |
| 2:70297474:GGTC:G | acceptor_gain | 0.9900 |
| 2:70297475:GTC:G | acceptor_gain | 0.9900 |
| 2:70297480:G:C | acceptor_gain | 0.9900 |
AlphaMissense
1605 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:70297449:C:T | C86Y | 0.997 |
| 2:70300898:C:T | C57Y | 0.997 |
| 2:70300960:G:C | S36R | 0.997 |
| 2:70300960:G:T | S36R | 0.997 |
| 2:70300962:T:G | S36R | 0.997 |
| 2:70300969:G:C | F33L | 0.997 |
| 2:70300969:G:T | F33L | 0.997 |
| 2:70300970:A:G | F33S | 0.997 |
| 2:70300971:A:G | F33L | 0.997 |
| 2:70297448:G:C | C86W | 0.996 |
| 2:70300865:A:T | V68D | 0.996 |
| 2:70300897:G:C | C57W | 0.996 |
| 2:70300899:A:G | C57R | 0.996 |
| 2:70297449:C:A | C86F | 0.995 |
| 2:70297449:C:G | C86S | 0.995 |
| 2:70297450:A:G | C86R | 0.995 |
| 2:70297450:A:T | C86S | 0.995 |
| 2:70297460:G:C | C82W | 0.995 |
| 2:70300853:A:G | L72P | 0.995 |
| 2:70300878:C:G | A64P | 0.995 |
| 2:70300898:C:A | C57F | 0.995 |
| 2:70300951:A:C | C39W | 0.995 |
| 2:70300952:C:T | C39Y | 0.995 |
| 2:70297366:A:G | C114R | 0.994 |
| 2:70297461:C:T | C82Y | 0.994 |
| 2:70297462:A:G | C82R | 0.994 |
| 2:70300898:C:G | C57S | 0.994 |
| 2:70300899:A:T | C57S | 0.994 |
| 2:70297464:C:G | R81P | 0.993 |
| 2:70300844:A:G | F75S | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000143235 (2:70298155 C>T), RS1000241990 (2:70297761 T>C), RS1001019439 (2:70303004 G>A), RS1002328801 (2:70302050 C>G,T), RS1002565479 (2:70300236 G>A,T), RS1002702859 (2:70300526 C>A), RS1002999971 (2:70299889 C>T), RS1004924044 (2:70295905 T>C), RS1004976540 (2:70296437 A>G), RS1005475785 (2:70301182 T>C), RS1005655834 (2:70303076 A>C), RS1005681536 (2:70301126 G>A), RS1005691512 (2:70298635 T>C), RS1005970199 (2:70299952 C>G,T), RS1006069414 (2:70299911 T>A)
Disease associations
OMIM: gene MIM:616275 | disease phenotypes: MIM:156000
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Meniere disease | Limited | Unknown |
Mondo (1): Meniere disease (MONDO:0007972)
Orphanet (1): NON RARE IN EUROPE: Menière disease (Orphanet:45360)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002481_1 | Acne (severe) | 5.000000e-06 |
| GCST003802_4 | Response to citalopram or escitalopram in depression | 5.000000e-07 |
| GCST006612_37 | LDL cholesterol | 2.000000e-08 |
| GCST006614_47 | Total cholesterol levels | 2.000000e-11 |
| GCST006661_199 | Male-pattern baldness | 3.000000e-08 |
| GCST009391_905 | Metabolite levels | 7.000000e-07 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0010442 | triacylglycerol 58:8 measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008575 | Meniere Disease | C09.218.568.217.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067302 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.51 | Kd | 31.19 | nM | CHEMBL3752910 |
| 7.37 | ED50 | 42.95 | nM | CHEMBL3752910 |
| 5.47 | Kd | 3364 | nM | CHEMBL5653589 |
| 5.33 | ED50 | 4631 | nM | CHEMBL5653589 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148361: Binding affinity to human FAM136A incubated for 45 mins by Kinobead based pull down assay | kd | 0.0312 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148361: Binding affinity to human FAM136A incubated for 45 mins by Kinobead based pull down assay | kd | 3.3637 | uM |
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, affects expression, affects cotreatment | 3 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| tetrahydropalmatine | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| corosolic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Particulate Matter | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651403 | Binding | Binding affinity to human FAM136A incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
5 cell lines: 2 transformed cell line, 2 cancer cell line, 1 induced pluripotent stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2WU | Abcam HEK293T FAM136A KO | Transformed cell line | Female |
| CVCL_B5H2 | GENYOi007-A | Induced pluripotent stem cell | Female |
| CVCL_E7TW | FMD patient III.4 LCL | Transformed cell line | Female |
| CVCL_SM84 | HAP1 FAM136A (-) 1 | Cancer cell line | Male |
| CVCL_XN65 | HAP1 FAM136A (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
31 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01574313 | PHASE4 | COMPLETED | Effect of Stellate Ganglion Block on Meniere’s Disease |
| NCT02529475 | PHASE4 | TERMINATED | Evaluation of Inner Ear and Brain Structures With Contrast-enhanced MRI in Healthy Subjects (HYDROPS) |
| NCT04815187 | PHASE4 | ACTIVE_NOT_RECRUITING | Repurposed Use of Allergic Rhinitis and Allergic Asthma Drug to Reduce Vertigo and Hearing Loss in Meniere’s Disease |
| NCT03664674 | PHASE3 | COMPLETED | Phase 3 Study of OTO-104 in Subjects With Unilateral Meniere’s Disease |
| NCT04677972 | PHASE3 | COMPLETED | SPI-1005 for the Treatment of Meniere’s Disease |
| NCT05851508 | PHASE3 | RECRUITING | The Effecttiveness of Intratympanic Methylprednisolon Injections Compared to Placebo in the Treatment of Vertigo Attacks in Meniere’s Disease |
| NCT05420350 | PHASE2 | UNKNOWN | Lamotrigine and Bupropion for Meniere’s Disease |
| NCT06544434 | PHASE2 | RECRUITING | Laser Acupuncture for Meniere Disease |
| NCT04674735 | PHASE1 | WITHDRAWN | Safety of APSLXR in Patients Presenting Vertigo of Vestibular Origin or Meniere’s Disease |
| NCT04218123 | PHASE2/PHASE3 | COMPLETED | Assessing the Efficacy of a Serotonin and Norepinephrine Reuptake Inhibitor for Improving Meniere’s Disease Outcomes |
| NCT04766853 | PHASE1/PHASE2 | COMPLETED | Verification of the Efficacy/safety of the Intratympanic Drug Delivery for Hearing Loss |
| NCT04794842 | EARLY_PHASE1 | UNKNOWN | Comparing Topical Tetracaine Drops to Topical Focal Phenol for Local Anesthesia During Intratympanic Steroid Injection |
| NCT00599560 | Not specified | COMPLETED | Vasopressin and V2 Receptor in Meniere’s Disease |
| NCT02371798 | Not specified | WITHDRAWN | Unilateral Meniere Disease: Can Double Dose Gadolinium and Delayed Imaging Make the Diagnosis? |
| NCT03520322 | Not specified | TERMINATED | A Study of a Mastoid Device in Subjects With Ménière’s Disease |
| NCT03795675 | Not specified | ACTIVE_NOT_RECRUITING | CI Following VS Removal or Labyrinthectomy |
| NCT04370366 | Not specified | RECRUITING | Imaging of Endolymphatic Hydrops at 7T MRI |
| NCT04569175 | Not specified | COMPLETED | Non Enhanced Labyrinth Imaging for the Detection of Endolymphatic Hydrops in Meniere’s Disease NELI Study |
| NCT04686695 | Not specified | COMPLETED | Transcutaneous Auricular Vagus Nerve Stimulation Treatment on Meniere Disease |
| NCT04835688 | Not specified | UNKNOWN | Ventilation Tube Insertion for Unilateral Menière’s Disease |
| NCT04902963 | Not specified | COMPLETED | What is the Tympanic Membrane Healing Time After Insertion of a Gelfoam PE Tube? |
| NCT04935970 | Not specified | UNKNOWN | Metabolic Disorders and Vertigo |
| NCT05322538 | Not specified | NOT_YET_RECRUITING | Menier’s Disease - Bone Density Study |
| NCT05328895 | Not specified | COMPLETED | Transcutaneous Auricular Vagus Nerve Stimulation for Meniere Disease |
| NCT05424302 | Not specified | RECRUITING | Effect of Peripheral Vestibular Disease Location on Outcomes Following Home-based Virtual Reality Vestibular Therapy |
| NCT05582148 | Not specified | UNKNOWN | Meniere Disease and Hearing Aids |
| NCT05844657 | Not specified | COMPLETED | Comprehensive Evaluation in Patients With Meniere’s Disease |
| NCT05960786 | Not specified | COMPLETED | Treating the Symptoms of Vertigo in a Real-world Setting Using the OtoBand |
| NCT06278129 | Not specified | UNKNOWN | Evaluation of the Diagnostic and Prognostic Efficacy of MRI in Acute Sensorineural Hearing Loss and Ménière’s Disease |
| NCT06544590 | Not specified | COMPLETED | Transcutaneous Auricular Vagus Nerve Stimulation for Meniere Disease |
| NCT07272473 | Not specified | RECRUITING | Effects of Cervical Mobilization on Dizziness, Balance, and Joint Position Sense in Patients With Meniere’s Disease |
Related Atlas pages
- Associated diseases: Meniere disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Meniere disease