NIBAN1
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Also known as NIBANGIG39
Summary
NIBAN1 (niban apoptosis regulator 1, HGNC:16784) is a protein-coding gene on chromosome 1q25.3, encoding Protein Niban 1 (Q9BZQ8). Regulates phosphorylation of a number of proteins involved in translation regulation including EIF2A, EIF4EBP1 and RPS6KB1.
This gene encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. The encoded protein may play a role in regulating p53-mediated apoptosis.
Source: NCBI Gene 116496 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 185 total
- MANE Select transcript:
NM_052966
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16784 |
| Approved symbol | NIBAN1 |
| Name | niban apoptosis regulator 1 |
| Location | 1q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NIBAN, GIG39 |
| Ensembl gene | ENSG00000135842 |
| Ensembl biotype | protein_coding |
| OMIM | 619294 |
| Entrez | 116496 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 14 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000367511, ENST00000417056, ENST00000461167, ENST00000487074, ENST00000496299, ENST00000899938, ENST00000899939, ENST00000899940, ENST00000899941, ENST00000899942, ENST00000899943, ENST00000899944, ENST00000899945, ENST00000899946, ENST00000899947, ENST00000968385, ENST00000968386
RefSeq mRNA: 1 — MANE Select: NM_052966
NM_052966
CCDS: CCDS1364
Canonical transcript exons
ENST00000367511 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000822921 | 184823638 | 184823742 |
| ENSE00000822923 | 184884633 | 184884800 |
| ENSE00001128072 | 184890108 | 184890222 |
| ENSE00001128077 | 184894075 | 184894206 |
| ENSE00001152138 | 184899179 | 184899309 |
| ENSE00001444835 | 184974302 | 184974508 |
| ENSE00001908214 | 184791032 | 184796097 |
| ENSE00003507472 | 184808074 | 184808235 |
| ENSE00003562996 | 184818638 | 184818825 |
| ENSE00003580688 | 184798079 | 184798190 |
| ENSE00003597866 | 184831847 | 184831962 |
| ENSE00003650397 | 184823167 | 184823329 |
| ENSE00003692402 | 184803585 | 184803692 |
| ENSE00003693348 | 184805946 | 184806056 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 99.49.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.9703 / max 3036.4979, expressed in 1657 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 16286 | 19.4682 | 1478 |
| 16287 | 15.2167 | 1527 |
| 16285 | 2.5339 | 834 |
| 16288 | 0.7515 | 387 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| blood vessel layer | UBERON:0004797 | 99.49 | gold quality |
| saphenous vein | UBERON:0007318 | 99.40 | gold quality |
| parotid gland | UBERON:0001831 | 99.39 | gold quality |
| heart right ventricle | UBERON:0002080 | 99.38 | gold quality |
| vena cava | UBERON:0004087 | 99.17 | gold quality |
| myocardium | UBERON:0002349 | 99.10 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.96 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 98.91 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.68 | gold quality |
| seminal vesicle | UBERON:0000998 | 98.30 | gold quality |
| right coronary artery | UBERON:0001625 | 98.07 | gold quality |
| cauda epididymis | UBERON:0004360 | 97.92 | gold quality |
| urethra | UBERON:0000057 | 97.88 | gold quality |
| superficial temporal artery | UBERON:0001614 | 97.87 | gold quality |
| mammary duct | UBERON:0001765 | 97.82 | gold quality |
| trachea | UBERON:0003126 | 97.67 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 97.51 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 97.50 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.37 | gold quality |
| cartilage tissue | UBERON:0002418 | 97.20 | gold quality |
| skin of hip | UBERON:0001554 | 97.09 | gold quality |
| vastus lateralis | UBERON:0001379 | 96.90 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 96.89 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 96.83 | gold quality |
| blood | UBERON:0000178 | 96.79 | gold quality |
| quadriceps femoris | UBERON:0001377 | 96.78 | gold quality |
| biceps brachii | UBERON:0001507 | 96.75 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.73 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.72 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.69 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7381 | yes | 677.37 |
| E-MTAB-9221 | yes | 20.89 |
| E-GEOD-81547 | yes | 20.79 |
| E-MTAB-5061 | yes | 19.98 |
| E-ANND-3 | yes | 19.53 |
| E-CURD-97 | no | 569.21 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
143 targeting NIBAN1, 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-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
Literature-anchored findings (GeneRIF, showing 14)
- Niban expression is up-regulated in various types of thyroid tumors. (PMID:16949643)
- The expression of Niban frequently begins in the early stages of head and neck squamous carcinoma and remains upregulated throughout the carcinogenic process. Niban may be a good molecular marker of HNSCC. (PMID:19536772)
- Gene-expression data suggest a difference in expression between STT3A, Clorf24, and TFF3 in FAs versus carcinomas that may be detected from an FNA sample. Findings must be validated from preoperative FNAs in larger numbers (PMID:21520112)
- DDIT3, STT3A, ARG2 and FAM129A immunohistochemistry does not appear to be useful in the diagnosis of thyroid follicular neoplasias, as they do not reliably distinguish follicular thyroid carcinoma from follicular thyroid adenoma. (PMID:22157935)
- Data suggest that decreasing C1orf24 protein levels by restoring microRNA miR-106b function may have therapeutic implications. (PMID:26317551)
- We have shown that FAM129A is associated with variation in clinical asthma steroid responsiveness and that FAM129A modulates steroid responsiveness in lung epithelial cells. (PMID:29410046)
- results suggest a conditional regulation of KRT16 gene by ATF4 that may be inhibited in normal cells, but engaged during cancer progression. Potential roles of KRT16, FAM129A and HKDC1 genes upregulation in adaptive stress responses and pathologies are discussed (PMID:29420561)
- Our data suggest that, in normal thyroid cells, FAM129A induces autophagy in order to maintain cell homeostasis and provide substrates under starvation conditions. Instead, in thyroid cancer cells, decreased autophagy may help the cells to overcome cell death. FAM129A regulates autophagy in a cell- and/or context-dependent manner. (PMID:30400008)
- Silencing of Niban in HK-2 cells not only increased the AngII- and endoplasmic reticulum stress-induced apoptosis, but also promoted the expression of caspase 8, caspase 9, Bip, and Chop, suggesting that Niban protein is involved in apoptosis regulation in HK-2 cells, and most likely via caspase-dependent pathway. (PMID:31163002)
- One of the canonical Unfolded protein response branches, through ATF4 and its target gene FAM129A, is required for Prostate cancer growth and thus may serve as a novel therapeutic target. (PMID:31312022)
- MRNA and protein expression of FAM129A were negatively regulated by miR-135a. (PMID:31729558)
- MiR-4521 plays a tumor repressive role in growth and metastasis of hepatocarcinoma cells by suppressing phosphorylation of FAK/AKT pathway via targeting FAM129A. (PMID:35127170)
- The negative feedback loop FAM129A/CXCL14 aggravates the progression of esophageal cancer. (PMID:35776020)
- FAM129A promotes self-renewal and maintains invasive status via stabilizing the Notch intracellular domain in glioma stem cells. (PMID:37083136)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | niban1b | ENSDARG00000023053 |
| danio_rerio | niban1a | ENSDARG00000042055 |
| mus_musculus | Niban1 | ENSMUSG00000026483 |
| rattus_norvegicus | Niban1 | ENSRNOG00000002403 |
Paralogs (2): NIBAN2 (ENSG00000136830), NIBAN3 (ENSG00000167483)
Protein
Protein identifiers
Protein Niban 1 — Q9BZQ8 (reviewed: Q9BZQ8)
Alternative names: Cell growth-inhibiting gene 39 protein, Protein FAM129A
All UniProt accessions (2): Q9BZQ8, H0Y7M9
UniProt curated annotations — full annotation on UniProt →
Function. Regulates phosphorylation of a number of proteins involved in translation regulation including EIF2A, EIF4EBP1 and RPS6KB1. May be involved in the endoplasmic reticulum stress response.
Subcellular location. Cytoplasm. Membrane.
Tissue specificity. Expressed in various types of thyroid tumor such as papillary thyroid carcinomas and oxyphilic thyroid tumors but not in normal thyroid tissue (at protein level). Strongly expressed in heart, skeletal muscle, pancreas, white blood cells and prostate with moderate expression in colon and spleen. Expressed in renal carcinoma cells but not in normal kidney.
Miscellaneous. ‘Niban’ means ‘second’ in Japanese.
Similarity. Belongs to the Niban family.
RefSeq proteins (1): NP_443198* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026088 | Niban-like | Family |
| IPR059060 | Niban_1/2/3_dom | Domain |
Pfam: PF26086, PF26089
UniProt features (31 total): modified residue 7, compositionally biased region 6, sequence conflict 6, region of interest 5, sequence variant 4, initiator methionine 1, chain 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BZQ8-F1 | 70.11 | 0.49 |
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 (8): 579, 582, 596, 602, 646, 708, 926, 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 357 (showing top):
VERHAAK_AML_WITH_NPM1_MUTATED_DN, KOBAYASHI_EGFR_SIGNALING_24HR_UP, BENPORATH_ES_WITH_H3K27ME3, GOBP_REGULATION_OF_PHOSPHORYLATION, XU_GH1_AUTOCRINE_TARGETS_UP, AAGTCCA_MIR422B_MIR422A, PEREZ_TP63_TARGETS, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, PAPASPYRIDONOS_UNSTABLE_ATEROSCLEROTIC_PLAQUE_DN, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS
GO Biological Process (5): negative regulation of protein phosphorylation (GO:0001933), positive regulation of protein phosphorylation (GO:0001934), response to endoplasmic reticulum stress (GO:0034976), positive regulation of translation (GO:0045727), regulation of translation (GO:0006417)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), extracellular exosome (GO:0070062)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| regulation of protein phosphorylation | 2 |
| protein phosphorylation | 2 |
| translation | 2 |
| negative regulation of protein modification process | 1 |
| negative regulation of phosphorylation | 1 |
| positive regulation of protein modification process | 1 |
| positive regulation of phosphorylation | 1 |
| cellular response to stress | 1 |
| regulation of translation | 1 |
| positive regulation of gene expression | 1 |
| positive regulation of protein metabolic process | 1 |
| post-transcriptional regulation of gene expression | 1 |
| regulation of protein metabolic process | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1702 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NIBAN1 | STT3A | P46977 | 505 |
| NIBAN1 | OSBPL10 | Q9BXB5 | 479 |
| NIBAN1 | CCDC179 | H3BU77 | 477 |
| NIBAN1 | EPHA2 | P29317 | 380 |
| NIBAN1 | TMEM100 | Q9NV29 | 361 |
| NIBAN1 | CFAP92 | Q9ULG3 | 351 |
| NIBAN1 | ACTC1 | P04270 | 350 |
| NIBAN1 | SYNPO2 | Q9UMS6 | 329 |
| NIBAN1 | CLMN | Q96JQ2 | 315 |
| NIBAN1 | EFL1 | Q7Z2Z2 | 294 |
| NIBAN1 | ZNF777 | Q9ULD5 | 290 |
| NIBAN1 | CHAC1 | Q9BUX1 | 290 |
| NIBAN1 | RHOF | Q9HBH0 | 282 |
| NIBAN1 | HES2 | Q9Y543 | 263 |
| NIBAN1 | CRISPLD2 | Q9H0B8 | 258 |
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NIBAN1 | FHL2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| FHL2 | NIBAN1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| NPM1 | NIBAN1 | psi-mi:“MI:0915”(physical association) | 0.600 |
| NIBAN1 | NPM1 | psi-mi:“MI:0407”(direct interaction) | 0.600 |
| NPM1 | NIBAN1 | psi-mi:“MI:0407”(direct interaction) | 0.600 |
| NIBAN1 | DDIT4L | psi-mi:“MI:0915”(physical association) | 0.560 |
| DDIT4L | NIBAN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AKT1 | NIBAN1 | psi-mi:“MI:0915”(physical association) | 0.540 |
| AKT1 | NIBAN1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.540 |
| ECE1 | NIBAN1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| NIBAN1 | FHL2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (36): FAM129A (Two-hybrid), FAM129A (Affinity Capture-MS), FAM129A (Affinity Capture-RNA), FAM129A (Two-hybrid), FAM129A (Proximity Label-MS), FAM129A (Proximity Label-MS), FAM129A (Proximity Label-MS), FAM129A (Proximity Label-MS), FAM129A (Proximity Label-MS), FAM129A (Proximity Label-MS), FAM129A (Proximity Label-MS), FAM129A (Proximity Label-MS), FAM129A (Proximity Label-MS), AKT1 (Affinity Capture-Western), NPM1 (Affinity Capture-Western)
ESM2 similar proteins: A1A4V9, A4IFI1, A8E4X8, B0BMZ6, G5E8P0, O75161, P18302, P59017, P59240, P85299, P97432, Q14596, Q2HJA5, Q2T9R2, Q3B7M3, Q3MHU5, Q3U0L2, Q3ZBK7, Q3ZK22, Q499E4, Q501R9, Q53GS7, Q569K6, Q58DT5, Q5FVG6, Q5RAS2, Q5SPX1, Q5T7N3, Q5XI52, Q60698, Q60943, Q6NZQ0, Q6P9J5, Q80U62, Q812A5, Q8C0R7, Q8CC12, Q8IWY9, Q8IYY4, Q8N6L0
Diamond homologs: B4F7E8, Q3UW53, Q8R1F1, Q96TA1, Q9BZQ8, Q9ESN0
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| AKT | unknown | NIBAN1 | phosphorylation |
| AKT1 | unknown | NIBAN1 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
185 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 157 |
| Likely benign | 13 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3578 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:184798073:TCTTA:T | donor_loss | 1.0000 |
| 1:184798074:CTTA:C | donor_loss | 1.0000 |
| 1:184798075:TTA:T | donor_loss | 1.0000 |
| 1:184798076:TA:T | donor_loss | 1.0000 |
| 1:184798078:CCTTT:C | donor_gain | 1.0000 |
| 1:184798206:T:TC | acceptor_gain | 1.0000 |
| 1:184803575:ATCC:A | donor_gain | 1.0000 |
| 1:184803583:A:AC | donor_gain | 1.0000 |
| 1:184803584:C:CC | donor_gain | 1.0000 |
| 1:184806053:TTAG:T | acceptor_gain | 1.0000 |
| 1:184806057:C:CC | acceptor_gain | 1.0000 |
| 1:184806065:C:CT | acceptor_gain | 1.0000 |
| 1:184808069:CCCA:C | donor_loss | 1.0000 |
| 1:184808070:CCA:C | donor_loss | 1.0000 |
| 1:184808072:A:AT | donor_loss | 1.0000 |
| 1:184808072:ACCT:A | donor_gain | 1.0000 |
| 1:184808073:C:CT | donor_loss | 1.0000 |
| 1:184808073:CCTC:C | donor_gain | 1.0000 |
| 1:184808075:T:TA | donor_gain | 1.0000 |
| 1:184808103:C:CT | donor_gain | 1.0000 |
| 1:184808234:TG:T | acceptor_gain | 1.0000 |
| 1:184808243:T:C | acceptor_gain | 1.0000 |
| 1:184808246:G:C | acceptor_gain | 1.0000 |
| 1:184808246:G:GC | acceptor_gain | 1.0000 |
| 1:184823163:TGA:T | donor_loss | 1.0000 |
| 1:184823164:GA:G | donor_loss | 1.0000 |
| 1:184823165:A:AG | donor_loss | 1.0000 |
| 1:184823330:C:CC | acceptor_gain | 1.0000 |
| 1:184823649:T:TA | donor_gain | 1.0000 |
| 1:184831841:TATTA:T | donor_loss | 1.0000 |
AlphaMissense
6120 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:184894137:A:G | W86R | 0.998 |
| 1:184894137:A:T | W86R | 0.998 |
| 1:184798161:A:C | F528L | 0.997 |
| 1:184798161:A:T | F528L | 0.997 |
| 1:184798163:A:G | F528L | 0.997 |
| 1:184823304:A:T | V283D | 0.996 |
| 1:184823646:A:G | W272R | 0.996 |
| 1:184823646:A:T | W272R | 0.996 |
| 1:184823714:A:G | L249P | 0.996 |
| 1:184831918:C:G | A216P | 0.996 |
| 1:184823653:C:A | K269N | 0.995 |
| 1:184823653:C:G | K269N | 0.995 |
| 1:184899271:A:C | Y32D | 0.995 |
| 1:184803664:C:G | R492P | 0.994 |
| 1:184803675:G:C | S488R | 0.994 |
| 1:184803675:G:T | S488R | 0.994 |
| 1:184803677:T:G | S488R | 0.994 |
| 1:184899282:A:G | F28S | 0.994 |
| 1:184796061:A:G | L568S | 0.993 |
| 1:184823656:T:A | R268S | 0.993 |
| 1:184823656:T:G | R268S | 0.993 |
| 1:184805946:C:A | K482N | 0.992 |
| 1:184805946:C:G | K482N | 0.992 |
| 1:184818750:A:G | L354P | 0.992 |
| 1:184823702:A:G | L253P | 0.992 |
| 1:184798186:A:G | L520P | 0.991 |
| 1:184805953:A:T | V480D | 0.991 |
| 1:184805956:C:G | R479P | 0.990 |
| 1:184806044:C:G | A450P | 0.990 |
| 1:184818734:G:C | S359R | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000011072 (1:184943978 T>C), RS1000014237 (1:184948293 T>G), RS1000042745 (1:184915313 T>C), RS1000046788 (1:184947909 T>C), RS1000060424 (1:184902899 A>G), RS1000086643 (1:184814054 A>T), RS1000109076 (1:184878681 A>T), RS1000119292 (1:184802913 G>A,C), RS1000136654 (1:184861434 C>T), RS1000146962 (1:184812755 C>T), RS1000188227 (1:184792996 T>G), RS1000205849 (1:184894441 A>G), RS1000289521 (1:184855443 A>G), RS1000305736 (1:184820562 C>T), RS1000313111 (1:184897772 A>G)
Disease associations
OMIM: gene MIM:619294 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_684 | Obesity-related traits | 4.000000e-06 |
| GCST004049_12 | Cough in response to angiotensin-converting enzyme inhibitor drugs | 4.000000e-07 |
| GCST004735_20 | Epstein-Barr virus copy number in lymphoblastoid cell lines | 9.000000e-06 |
| GCST008521_3 | Bitter beverage consumption | 1.000000e-06 |
| GCST008745_89 | Estimated glomerular filtration rate in non-diabetics | 5.000000e-09 |
| GCST008747_3 | Estimated glomerular filtration rate | 1.000000e-11 |
| GCST008747_54 | Estimated glomerular filtration rate | 4.000000e-12 |
| GCST009997_4 | Thyroid volume in Hashimoto’s thyroiditis | 1.000000e-07 |
| GCST010145_7 | Cerebrospinal fluid immune biomarker levels | 1.000000e-08 |
| GCST010396_266 | Gut microbiota (bacterial taxa, hurdle binary method) | 3.000000e-07 |
| GCST90000025_837 | Appendicular lean mass | 4.000000e-12 |
| GCST90002395_546 | Mean platelet volume | 1.000000e-10 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005325 | response to angiotensin-converting enzyme inhibitor |
| EFO:0010089 | bitter beverage consumption measurement |
| EFO:0010596 | monocyte chemotactic protein 1 measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
102 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression, increases expression, increases methylation | 5 |
| Valproic Acid | increases expression | 5 |
| Cyclosporine | increases expression | 4 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 3 |
| Tretinoin | decreases expression, increases expression | 3 |
| perfluorooctanoic acid | increases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| bisphenol S | increases expression, affects cotreatment | 2 |
| bisphenol AF | decreases expression, increases expression | 2 |
| Cisplatin | increases expression, affects response to substance | 2 |
| Copper | affects binding, increases expression | 2 |
| Dexamethasone | increases expression, decreases expression, affects cotreatment | 2 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| pirinixic acid | increases activity, increases expression, affects binding | 1 |
| sodium arsenate | decreases expression | 1 |
| titanium dioxide | decreases expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| hydroxyhydroquinone | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| o,p’-DDT | increases expression | 1 |
| afimoxifene | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 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): Epstein-Barr virus infection