TCIM
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Also known as TC-1hTC-1TC1
Summary
TCIM (transcriptional and immune response regulator, HGNC:1357) is a protein-coding gene on chromosome 8p11.21, encoding Transcriptional and immune response regulator (Q9NR00). Seems to be involved in the regulation of cell growth an differentiation, may play different and opposite roles depending on the tissue or cell type.
This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. The encoded protein may also play a role in the NF-kappaB and ERK1/2 signaling pathways. Expression of this gene may play a role in the proliferation of several types of cancer including thyroid cancer, breast cancer and hematological malignancies.
Source: NCBI Gene 56892 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 1 total
- MANE Select transcript:
NM_020130
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1357 |
| Approved symbol | TCIM |
| Name | transcriptional and immune response regulator |
| Location | 8p11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TC-1, hTC-1, TC1 |
| Ensembl gene | ENSG00000176907 |
| Ensembl biotype | protein_coding |
| OMIM | 607702 |
| Entrez | 56892 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000315792
RefSeq mRNA: 1 — MANE Select: NM_020130
NM_020130
CCDS: CCDS6115
Canonical transcript exons
ENST00000315792 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001254573 | 40153482 | 40155310 |
Expression profiles
Bgee: expression breadth ubiquitous, 259 present calls, max score 99.26.
FANTOM5 (CAGE): breadth broad, TPM avg 13.7123 / max 1161.8933, expressed in 816 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 88626 | 13.6688 | 815 |
| 88624 | 0.0288 | 11 |
| 88625 | 0.0147 | 2 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 99.26 | gold quality |
| gall bladder | UBERON:0002110 | 98.37 | gold quality |
| right lung | UBERON:0002167 | 98.19 | gold quality |
| vena cava | UBERON:0004087 | 97.69 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 97.64 | gold quality |
| seminal vesicle | UBERON:0000998 | 97.57 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 97.35 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.35 | gold quality |
| pericardium | UBERON:0002407 | 97.32 | gold quality |
| upper lobe of lung | UBERON:0008948 | 97.24 | gold quality |
| lung | UBERON:0002048 | 96.94 | gold quality |
| visceral pleura | UBERON:0002401 | 96.70 | gold quality |
| rectum | UBERON:0001052 | 96.53 | gold quality |
| lower lobe of lung | UBERON:0008949 | 96.40 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.35 | gold quality |
| ventricular zone | UBERON:0003053 | 96.21 | gold quality |
| endometrium | UBERON:0001295 | 95.17 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.04 | gold quality |
| colonic epithelium | UBERON:0000397 | 94.96 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.60 | gold quality |
| right atrium auricular region | UBERON:0006631 | 94.50 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 94.49 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 94.32 | gold quality |
| heart right ventricle | UBERON:0002080 | 94.11 | gold quality |
| urinary bladder | UBERON:0001255 | 93.89 | gold quality |
| vermiform appendix | UBERON:0001154 | 93.69 | gold quality |
| adult organism | UBERON:0007023 | 93.64 | gold quality |
| cardiac atrium | UBERON:0002081 | 93.62 | gold quality |
| liver | UBERON:0002107 | 93.61 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 93.56 | gold quality |
Single-cell (SCXA)
Detected in 16 experiment(s), a significant marker in 14.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-84465 | yes | 991.38 |
| E-HCAD-1 | yes | 89.82 |
| E-MTAB-10553 | yes | 49.14 |
| E-MTAB-6701 | yes | 44.00 |
| E-HCAD-10 | yes | 43.75 |
| E-MTAB-10287 | yes | 39.06 |
| E-GEOD-135922 | yes | 38.77 |
| E-MTAB-8410 | yes | 25.36 |
| E-GEOD-130148 | yes | 19.91 |
| E-CURD-46 | yes | 15.61 |
| E-GEOD-83139 | yes | 11.50 |
| E-GEOD-125970 | yes | 7.74 |
| E-GEOD-137537 | yes | 6.13 |
| E-HCAD-11 | no | 3062.64 |
| E-MTAB-10137 | no | 6.57 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
97 targeting TCIM, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
Literature-anchored findings (GeneRIF, showing 20)
- Overexpression of TC-1 may be important in thyroid carcinogenesis. (PMID:15087392)
- data indicate that TC1 is a novel upstream regulator of the Wnt/beta-catenin pathway that enhances aggressive behavior of cancers (PMID:16424001)
- The TC1 coordinates the up-regulation of Wnt/beta-catenin target genes that are implicated in the aggressive biological behavior of cancers. (PMID:16740781)
- Gene induces transformed phenotype when overexpressed in a cancer breast cell line. (PMID:17178857)
- TC-1 over expression is transforming and may link with the FGFR pathway in a subset of breast cancer. (PMID:17520678)
- Our data suggest that TC1 is a novel heat shock response regulator. (PMID:17603013)
- intrinsically disordered TC-1 interacts with Cby via its transient helical structure (PMID:17905836)
- TC1 was involved in the mitogen-activated ERK1/2 signaling pathway and positively regulated G(1)- to S-phase transition of the cell cycle. (PMID:18959821)
- A significant association was found between the copy-number deletions of C8orf4 and the risk of hematological malignancies. (PMID:20878554)
- The SNP rs10958605 in the C8orf4 gene had the smallest p value in analyses of the motor outcome. (PMID:22658654)
- The higher expression of TC-1 in ovarian compared to colorectal adenocarcinomas suggests its potential use as a marker (PMID:23377761)
- TC-1 expression is associated with aggressive biologic behavior in lung cancer and might coordinate with the Wnt/beta-catenin pathway as a positive upstream regulator that induces these behaviors. (PMID:23880650)
- TC-1 overexpression promotes cell proliferation in human non-small cell lung cancer that can be inhibited by PD173074. (PMID:24941347)
- the high expression of TC1 was common in oral tongue squamous cell carcinomas and correlated with the expression of b-catenin and cyclin D1 and the progression of oral tongue squamous cell carcinomas (PMID:25869879)
- C8orf4 negatively regulates the self-renewal of liver CSCs via suppression of NOTCH2 signalling (PMID:25985737)
- Decreased capacity of fibrotic lung fibroblasts to up-regulate COX-2 expression and COX-2-derived PGE2 synthesis is due to an indirect epigenetic mechanism involving hypermethylation of the transcriptional regulator, c8orf4. (PMID:26744410)
- Identified a new circRNA, circZFR, that was significantly upregulated in papillary thyroid carcinoma (PTC). CircZFR could promote C8orf4 expression via serving as a competing endogenous RNA of miR-1261 in PTC cells. Rescue assays indicated that restoration of C8orf4 significantly attenuated the inhibitory effects of circZFR knockdown on PTC cell proliferation, migration and invasion. (PMID:29842886)
- The lncRNA H19 serves as a competing endogenous RNA (ceRNA) for miR-30a to augment miR-30a downstream target C8orf4, therefore modulating adipogenic differentiation in adipose tissue-derived mesenchymal stem cells. (PMID:31026067)
- Correlations of ultrasound and pathological features of thyroid carcinoma with TC-1 mRNA and protein expression. (PMID:31081098)
- The expressions of C8orf4 (TCIM) and beta-catenin increase synergystically in cervical squamous cell carcinoma (CSCC) and high-grade intraepithelial lesions compared with low-grade lesions and normal cervical tissues. The methylation level of C8orf4 is decreased in CSCCs and is responsible for the increased expression of C8orf4. (PMID:31374065)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tcimb | ENSDARG00000076858 |
| danio_rerio | tcima | ENSDARG00000079497 |
| mus_musculus | Tcim | ENSMUSG00000056313 |
| rattus_norvegicus | Tcim | ENSRNOG00000047977 |
Protein
Protein identifiers
Transcriptional and immune response regulator — Q9NR00 (reviewed: Q9NR00)
Alternative names: Thyroid cancer protein 1
All UniProt accessions (1): Q9NR00
UniProt curated annotations — full annotation on UniProt →
Function. Seems to be involved in the regulation of cell growth an differentiation, may play different and opposite roles depending on the tissue or cell type. May enhance the WNT-CTNNB1 pathway by relieving antagonistic activity of CBY1. Enhances the proliferation of follicular dendritic cells. Plays a role in the mitogen-activated MAPK2/3 signaling pathway, positively regulates G1-to-S-phase transition of the cell cycle. In endothelial cells, enhances key inflammatory mediators and inflammatory response through the modulation of NF-kappaB transcriptional regulatory activity. Involved in the regulation of heat shock response, seems to play a positive feedback with HSF1 to modulate heat-shock downstream gene expression. Plays a role in the regulation of hematopoiesis even if the mechanisms are unknown. In cancers such as thyroid or lung cancer, it has been described as promoter of cell proliferation, G1-to-S-phase transition and inhibitor of apoptosis. However, it negatively regulates self-renewal of liver cancer cells via suppresion of NOTCH2 signaling.
Subunit / interactions. Monomer. Interacts with NOTCH2 (via ANK repeats), the interaction inhibits the nuclear translocation of NOTCH2 N2ICD. Interacts (C-terminus) with CBY1 (C-terminus), TCIM competes with CTNNB1 for the interaction with CBY1.
Subcellular location. Cytoplasm. Nucleus. Nucleolus. Nucleus speckle.
Tissue specificity. Ubiquitous. Expressed in thyroid papillary carcinoma. Expressed in liver, expression levels decrease in hepatocellular carcinoma. Slightly detected in normal lung, its expression is highly induced in lung cancer cells (at protein level).
Induction. Induced by pro-inflammatory cytokines such as TNF and IL1B, via NF-kappaB signaling. Induced by cellular stresses such as heat shock, TPA, lipopolysaccharide and UV. Induced by mitogens such as thrombin.
RefSeq proteins (1): NP_064515* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR020282 | Avpi1/C8orf4_dom | Domain |
| IPR039580 | Tcim | Family |
Pfam: PF15063
UniProt features (6 total): mutagenesis site 4, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NR00-F1 | 79.01 | 0.30 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 74 | no effect on interaction with cby1. |
| 86 | abolishes interaction with cby1. forms irregular perinuclear cytoplasmic aggregates. |
| 88 | abolishes interaction with cby1. |
| 96 | no effect on interaction with cby1. accumulates at nucleoli periphery. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 181 (showing top):
GSE45365_NK_CELL_VS_BCELL_UP, WALLACE_PROSTATE_CANCER_RACE_UP, FISCHER_G1_S_CELL_CYCLE, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_CELL_CYCLE_PHASE_TRANSITION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_NEGATIVE_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, MARTINEZ_RB1_TARGETS_UP, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, GOBP_REGULATION_OF_HEMOPOIESIS, AMIT_EGF_RESPONSE_120_HELA, GOBP_POSITIVE_REGULATION_OF_NON_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN
GO Biological Process (11): endothelial cell activation involved in immune response (GO:0002264), regulation of DNA-templated transcription (GO:0006355), apoptotic process (GO:0006915), cellular response to heat (GO:0034605), negative regulation of Notch signaling pathway (GO:0045746), positive regulation of non-canonical NF-kappaB signal transduction (GO:1901224), regulation of cell cycle G1/S phase transition (GO:1902806), regulation of hemopoiesis (GO:1903706), obsolete positive regulation of protein kinase A signaling (GO:0010739), negative regulation of apoptotic process (GO:0043066), positive regulation of protein kinase C activity (GO:1900020)
GO Molecular Function (2): Notch binding (GO:0005112), protein binding (GO:0005515)
GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), nuclear speck (GO:0016607)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| nuclear lumen | 2 |
| cell activation involved in immune response | 1 |
| immune response | 1 |
| endothelial cell activation | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| response to heat | 1 |
| cellular response to stress | 1 |
| Notch signaling pathway | 1 |
| regulation of Notch signaling pathway | 1 |
| negative regulation of signal transduction | 1 |
| non-canonical NF-kappaB signal transduction | 1 |
| regulation of non-canonical NF-kappaB signal transduction | 1 |
| positive regulation of intracellular signal transduction | 1 |
| cell cycle G1/S phase transition | 1 |
| regulation of cell cycle phase transition | 1 |
| regulation of immune system process | 1 |
| hemopoiesis | 1 |
| regulation of cell development | 1 |
| regulation of multicellular organismal development | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| diacylglycerol-dependent serine/threonine kinase activity | 1 |
| positive regulation of protein serine/threonine kinase activity | 1 |
| regulation of protein kinase C activity | 1 |
| signaling receptor binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| nuclear ribonucleoprotein granule | 1 |
Protein interactions and networks
STRING
344 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TCIM | BAG4 | O95429 | 880 |
| TCIM | LSM1 | O15116 | 798 |
| TCIM | CBY1 | Q9Y3M2 | 669 |
| TCIM | NOTCH2 | Q04721 | 565 |
| TCIM | BAG2 | O95816 | 496 |
| TCIM | LSM6 | P62312 | 478 |
| TCIM | LSM8 | O95777 | 474 |
| TCIM | LSM3 | P62310 | 470 |
| TCIM | LSM7 | Q9UK45 | 465 |
| TCIM | LSM2 | Q9Y333 | 463 |
| TCIM | LSM4 | Q9Y4Z0 | 453 |
| TCIM | NQO2 | P16083 | 428 |
| TCIM | ARHGEF5 | Q12774 | 425 |
| TCIM | LSM5 | Q9Y4Y9 | 423 |
| TCIM | GNAO1 | P09471 | 407 |
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FBXW7 | TCIM | psi-mi:“MI:2364”(proximity) | 0.470 |
| TCIM | FBXW7 | psi-mi:“MI:0915”(physical association) | 0.470 |
| TCIM | ACO2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| BRAF | TCIM | psi-mi:“MI:2364”(proximity) | 0.270 |
| TCIM | SMARCA4 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SMARCA4 | TCIM | psi-mi:“MI:2364”(proximity) | 0.270 |
| SPOP | TCIM | psi-mi:“MI:2364”(proximity) | 0.270 |
| TCIM | SPOP | psi-mi:“MI:2364”(proximity) | 0.270 |
| TCIM | PTEN | psi-mi:“MI:2364”(proximity) | 0.270 |
| TCIM | PTPN11 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TCIM | TP53 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TCIM | EGFR | psi-mi:“MI:2364”(proximity) | 0.270 |
| AKT1 | TCIM | psi-mi:“MI:2364”(proximity) | 0.270 |
| livM2 | TCIM | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (4): C8orf4 (Proximity Label-MS), C8orf4 (Affinity Capture-RNA), C8orf4 (Affinity Capture-MS), C8orf4 (Affinity Capture-RNA)
ESM2 similar proteins: A0A1B0GVR7, A0PJW8, A2BYT2, A5FRX9, B8G1X0, C1DKL7, G3UWD5, O42659, O62953, O95567, O98453, P05899, P11690, P11794, P19718, P20920, P27975, P32544, P33482, P39971, P52776, P54446, P69516, P69517, P86209, Q02781, Q0ABH1, Q1X6Y0, Q3AMN4, Q3J8R8, Q3K5Z2, Q3MFB7, Q3ZZM0, Q537H7, Q57P89, Q5I162, Q5PHY6, Q6AY31, Q75003, Q7CQJ0
Diamond homologs: Q3SZR0, Q5E969, Q9D7H4, Q9D915, Q9NR00, Q5R8D4, Q5T686, Q8VDA6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
1 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
87 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:40153873:G:GT | donor_gain | 0.7600 |
| 8:40153906:G:GG | donor_gain | 0.7600 |
| 8:40154442:A:AG | acceptor_gain | 0.7500 |
| 8:40153903:CAAGT:C | donor_loss | 0.5900 |
| 8:40153904:AAGT:A | donor_loss | 0.5900 |
| 8:40153905:AG:A | donor_loss | 0.5900 |
| 8:40153907:T:A | donor_loss | 0.5900 |
| 8:40153908:GAGT:G | donor_loss | 0.5800 |
| 8:40153909:A:AC | donor_loss | 0.5700 |
| 8:40153910:G:C | donor_loss | 0.5700 |
| 8:40153902:CCAA:C | donor_gain | 0.5400 |
| 8:40153910:GTTT:G | donor_gain | 0.5200 |
| 8:40153918:G:GT | donor_gain | 0.5200 |
| 8:40153901:ACCAA:A | donor_gain | 0.5000 |
| 8:40153909:A:AG | donor_gain | 0.5000 |
| 8:40153904:AA:A | donor_gain | 0.4800 |
| 8:40153903:CAA:C | donor_gain | 0.4700 |
| 8:40154071:GA:G | acceptor_gain | 0.4500 |
| 8:40153908:GA:G | donor_gain | 0.4400 |
| 8:40154071:GAGGA:G | acceptor_gain | 0.4400 |
| 8:40154070:A:AG | acceptor_gain | 0.4100 |
| 8:40154071:G:GG | acceptor_gain | 0.4100 |
| 8:40153867:GA:G | donor_gain | 0.3800 |
| 8:40153868:A:G | donor_gain | 0.3700 |
| 8:40153969:CAGGA:C | acceptor_gain | 0.3700 |
| 8:40154046:C:CT | acceptor_gain | 0.3300 |
| 8:40154062:G:T | acceptor_gain | 0.3300 |
| 8:40154125:A:T | donor_gain | 0.3300 |
| 8:40154129:G:GT | donor_gain | 0.3300 |
| 8:40154040:TCCA:T | acceptor_gain | 0.3200 |
AlphaMissense
699 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:40153687:T:C | F52S | 0.998 |
| 8:40153626:C:A | R32S | 0.997 |
| 8:40153721:A:C | R63S | 0.997 |
| 8:40153721:A:T | R63S | 0.997 |
| 8:40153631:G:C | K33N | 0.994 |
| 8:40153631:G:T | K33N | 0.994 |
| 8:40153684:T:C | L51P | 0.994 |
| 8:40153702:A:C | D57A | 0.994 |
| 8:40153702:A:T | D57V | 0.994 |
| 8:40153774:T:C | L81P | 0.994 |
| 8:40153651:T:C | F40S | 0.993 |
| 8:40153686:T:C | F52L | 0.993 |
| 8:40153688:C:A | F52L | 0.993 |
| 8:40153688:C:G | F52L | 0.993 |
| 8:40153699:G:T | G56V | 0.993 |
| 8:40153701:G:C | D57H | 0.993 |
| 8:40153650:T:C | F40L | 0.992 |
| 8:40153652:T:A | F40L | 0.992 |
| 8:40153652:T:G | F40L | 0.992 |
| 8:40153687:T:G | F52C | 0.992 |
| 8:40153720:G:C | R63T | 0.992 |
| 8:40153686:T:G | F52V | 0.991 |
| 8:40153702:A:G | D57G | 0.991 |
| 8:40153723:C:A | A64D | 0.991 |
| 8:40153779:G:C | A83P | 0.991 |
| 8:40153722:G:C | A64P | 0.990 |
| 8:40153770:G:C | A80P | 0.989 |
| 8:40153651:T:G | F40C | 0.988 |
| 8:40153675:T:C | L48P | 0.988 |
| 8:40153686:T:A | F52I | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000097855 (8:40155633 G>T), RS1000400009 (8:40152942 G>A), RS1000771184 (8:40152743 T>C), RS1001369872 (8:40152536 C>G), RS1001655472 (8:40152109 C>G,T), RS1003437530 (8:40155485 AAG>A), RS1005683578 (8:40153254 T>C), RS1006586304 (8:40152806 T>G), RS1007995820 (8:40153957 C>G), RS1008174415 (8:40151664 C>G), RS1008552678 (8:40154378 G>A,C), RS1009125484 (8:40152985 C>A), RS1010250688 (8:40152696 G>A), RS1011263487 (8:40155685 G>C), RS1011516353 (8:40155185 G>C)
Disease associations
OMIM: gene MIM:607702 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001546_1 | Parkinson’s disease (motor and cognition) | 2.000000e-06 |
| GCST004748_133 | Lung cancer | 7.000000e-06 |
| GCST012310_8 | Schizophrenia x sex interaction | 2.000000e-06 |
| GCST012311_27 | Schizophrenia x sex interaction | 5.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008343 | sex interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
67 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, increases expression | 6 |
| Tetrachlorodibenzodioxin | decreases expression, affects cotreatment, increases expression | 4 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Cyclosporine | decreases expression, increases expression | 3 |
| bisphenol A | affects expression, increases expression | 2 |
| Temozolomide | increases response to substance, increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Cadmium | decreases expression, increases expression | 2 |
| Estradiol | affects cotreatment, increases expression, decreases expression, decreases reaction | 2 |
| Lipopolysaccharides | increases expression, affects expression, affects response to substance, decreases reaction | 2 |
| Nickel | increases expression | 2 |
| Oxygen | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Aflatoxin B1 | affects expression, decreases methylation | 2 |
| methylmercuric chloride | decreases expression, increases expression | 1 |
| arsenite | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| nickel chloride | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| manganese chloride | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases reaction, increases expression | 1 |
| chromium hexavalent ion | increases expression, increases abundance | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| entinostat | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | increases expression, affects cotreatment | 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): lung carcinoma, Parkinson disease