IFFO1
gene geneOn this page
Also known as HOM-TES-103
Summary
IFFO1 (intermediate filament family orphan 1, HGNC:24970) is a protein-coding gene on chromosome 12p13.31, encoding Non-homologous end joining factor IFFO1 (Q0D2I5). Nuclear matrix protein involved in the immobilization of broken DNA ends and the suppression of chromosome translocation during DNA double-strand breaks (DSBs).
This gene is a member of the intermediate filament family. Intermediate filaments are proteins which are primordial components of the cytoskeleton and nuclear envelope. The proteins encoded by the members of this gene family are evolutionarily and structurally related but have limited sequence homology, with the exception of the central rod domain. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 25900 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 101 total
- MANE Select transcript:
NM_001193457
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24970 |
| Approved symbol | IFFO1 |
| Name | intermediate filament family orphan 1 |
| Location | 12p13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HOM-TES-103 |
| Ensembl gene | ENSG00000010295 |
| Ensembl biotype | protein_coding |
| OMIM | 610495 |
| Entrez | 25900 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 9 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay
ENST00000336604, ENST00000356896, ENST00000396830, ENST00000396840, ENST00000465801, ENST00000471408, ENST00000472558, ENST00000487279, ENST00000488007, ENST00000619571, ENST00000900775, ENST00000900776, ENST00000952552, ENST00000952553
RefSeq mRNA: 5 — MANE Select: NM_001193457
NM_001039670, NM_001193457, NM_001330324, NM_001330325, NM_080730
CCDS: CCDS41741, CCDS73425, CCDS81655, CCDS8550
Canonical transcript exons
ENST00000619571 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001700921 | 6539539 | 6540588 |
| ENSE00001803277 | 6549476 | 6549484 |
| ENSE00003481089 | 6548425 | 6548545 |
| ENSE00003590649 | 6550695 | 6550790 |
| ENSE00003626905 | 6541512 | 6541642 |
| ENSE00003629699 | 6549756 | 6549896 |
| ENSE00003637296 | 6550941 | 6551001 |
| ENSE00003652374 | 6548065 | 6548160 |
| ENSE00003731638 | 6548668 | 6548849 |
| ENSE00003735837 | 6555257 | 6556042 |
Expression profiles
Bgee: expression breadth ubiquitous, 276 present calls, max score 96.26.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.4651 / max 189.0299, expressed in 1558 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 129118 | 15.1123 | 1504 |
| 129112 | 5.1151 | 811 |
| 129117 | 0.9980 | 575 |
| 129114 | 0.4430 | 90 |
| 129113 | 0.3630 | 147 |
| 129109 | 0.3564 | 226 |
| 129116 | 0.0774 | 34 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tendon of biceps brachii | UBERON:0008188 | 96.26 | gold quality |
| granulocyte | CL:0000094 | 96.04 | gold quality |
| right coronary artery | UBERON:0001625 | 94.96 | gold quality |
| apex of heart | UBERON:0002098 | 94.28 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.93 | gold quality |
| spleen | UBERON:0002106 | 93.85 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 93.81 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.47 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.31 | gold quality |
| thoracic aorta | UBERON:0001515 | 93.17 | gold quality |
| ascending aorta | UBERON:0001496 | 93.12 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.12 | gold quality |
| monocyte | CL:0000576 | 92.88 | gold quality |
| body of uterus | UBERON:0009853 | 92.88 | gold quality |
| left uterine tube | UBERON:0001303 | 92.80 | gold quality |
| mononuclear cell | CL:0000842 | 92.78 | gold quality |
| left coronary artery | UBERON:0001626 | 92.32 | gold quality |
| leukocyte | CL:0000738 | 92.26 | gold quality |
| mucosa of stomach | UBERON:0001199 | 92.25 | gold quality |
| cerebellum | UBERON:0002037 | 92.12 | gold quality |
| coronary artery | UBERON:0001621 | 91.98 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 91.90 | gold quality |
| tibial nerve | UBERON:0001323 | 91.89 | gold quality |
| right ovary | UBERON:0002118 | 91.54 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 91.51 | gold quality |
| aorta | UBERON:0000947 | 91.47 | gold quality |
| right adrenal gland | UBERON:0001233 | 91.45 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 91.31 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 91.05 | gold quality |
| stromal cell of endometrium | CL:0002255 | 91.02 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.26 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
27 targeting IFFO1, 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-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-5682 | 99.89 | 72.56 | 1005 |
| HSA-MIR-7845-5P | 99.88 | 64.88 | 771 |
| HSA-MIR-6848-3P | 99.64 | 66.49 | 885 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-766-3P | 99.47 | 65.24 | 1811 |
| HSA-MIR-6843-3P | 99.26 | 66.42 | 915 |
| HSA-MIR-4293 | 99.22 | 65.46 | 1263 |
| HSA-MIR-6510-5P | 99.14 | 66.59 | 1081 |
| HSA-MIR-6868-5P | 99.06 | 65.69 | 1284 |
| HSA-MIR-211-3P | 98.14 | 66.77 | 1052 |
| HSA-MIR-3190-3P | 97.61 | 66.95 | 1406 |
| HSA-MIR-1225-3P | 97.29 | 64.60 | 876 |
| HSA-MIR-874-5P | 96.93 | 63.92 | 1014 |
| HSA-MIR-4323 | 93.93 | 63.89 | 656 |
| HSA-MIR-4442 | 92.35 | 67.08 | 98 |
Literature-anchored findings (GeneRIF, showing 3)
- The lamin A/C-IFFO1-constituted nucleoskeleton prevents chromosome translocation by immobilizing broken DNA ends during tumorigenesis. (PMID:31548606)
- METTL3-mediated N6-methyladenosine modification and HDAC5/YY1 promote IFFO1 downregulation in tumor development and chemo-resistance. (PMID:36257380)
- CircIFFO1 suppresses tumor growth and metastasis of cutaneous squamous cell carcinoma by targeting the miR-424-5p/NFIB axis. (PMID:37405427)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | iffo1b | ENSDARG00000062108 |
| danio_rerio | iffo1a | ENSDARG00000062976 |
| mus_musculus | Iffo1 | ENSMUSG00000038271 |
| rattus_norvegicus | Iffo1 | ENSRNOG00000018533 |
Paralogs (1): IFFO2 (ENSG00000169991)
Protein
Protein identifiers
Non-homologous end joining factor IFFO1 — Q0D2I5 (reviewed: Q0D2I5)
Alternative names: Intermediate filament family orphan 1, Tumor antigen HOM-TES-103
All UniProt accessions (3): Q0D2I5, A0A087WZ16, E9PPX7
UniProt curated annotations — full annotation on UniProt →
Function. Nuclear matrix protein involved in the immobilization of broken DNA ends and the suppression of chromosome translocation during DNA double-strand breaks (DSBs). Interacts with the nuclear lamina component LMNA, resulting in the formation of a nucleoskeleton that relocalizes to the DSB sites in a XRCC4-dependent manner and promotes the immobilization of the broken ends, thereby preventing chromosome translocation. Acts as a scaffold that allows the DNA repair protein XRCC4 and LMNA to assemble into a complex at the DSB sites.
Subunit / interactions. Forms a heterotetramer with XRCC4. The interaction with XRCC4 is direct, involves LIG4-free XRCC4 and leads to relocalization of IFFO1 at the double-strand break (DSB) sites. Interacts with LMNA; the interaction forms an interior nucleoskeleton and the recruitment to DNA double-strand breaks.
Subcellular location. Nucleus. Nucleoplasm. Nucleus inner membrane. Nucleus matrix.
Tissue specificity. Ubiquitously expressed.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the intermediate filament family.
Isoforms (7)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q0D2I5-1 | 1 | yes |
| Q0D2I5-2 | 2 | |
| Q0D2I5-3 | 3 | |
| Q0D2I5-4 | 4 | |
| Q0D2I5-5 | 5 | |
| Q0D2I5-6 | 6 | |
| Q0D2I5-7 | 7 |
RefSeq proteins (5): NP_001034759, NP_001180386, NP_001317253, NP_001317254, NP_542768 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR039008 | IF_rod_dom | Domain |
UniProt features (39 total): mutagenesis site 12, splice variant 6, region of interest 6, sequence conflict 6, coiled-coil region 3, compositionally biased region 2, helix 2, chain 1, domain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6ABO | X-RAY DIFFRACTION | 2.65 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q0D2I5-F1 | 67.53 | 0.33 |
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 (12):
| Position | Phenotype |
|---|---|
| 65 | does not affect the interaction with lmna. |
| 73 | decreased interaction with lmna. loss of ability to immobilize broken ends; when associated with h-85. |
| 73 | does not affect the interaction with lmna. |
| 85 | decreased interaction with lmna. |
| 89 | does not affect the interaction with lmna. |
| 480 | loss of interaction with xrcc4; when associated with r-487. |
| 487 | loss of interaction with xrcc4; when associated with r-480. |
| 490 | decreased interaction with xrcc4; when associated with a-516. loss of interaction with xrcc4; when associated with a-509 |
| 509 | loss of interaction with xrcc4; when associated with a-490 and a-516. |
| 512 | loss of interaction with xrcc4. |
| 515 | loss of interaction with xrcc4, loss of localization at the sites of dna damages and loss of ability to immobilize broke |
| 516 | decreased interaction with xrcc4; when associated with a-490. loss of interaction with xrcc4; when associated with a-490 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 189 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, SHEPARD_CRASH_AND_BURN_MUTANT_UP, MODULE_45, GOBP_CHROMOSOME_LOCALIZATION, TGACCTY_ERR1_Q2, BOYLAN_MULTIPLE_MYELOMA_D_DN, TTGGGAG_MIR150, COUP_01, CAGCAGG_MIR370, ONKEN_UVEAL_MELANOMA_UP, GOBP_PROTEIN_LOCALIZATION_TO_CHROMOSOME, HNF4_DR1_Q3, GOBP_DNA_DAMAGE_RESPONSE, HNF4_01, PPAR_DR1_Q2
GO Biological Process (3): double-strand break repair via nonhomologous end joining (GO:0006303), protein localization to site of double-strand break (GO:1990166), DNA double-strand break attachment to nuclear envelope (GO:1990683)
GO Molecular Function (2): cytoskeletal adaptor activity (GO:0008093), protein binding (GO:0005515)
GO Cellular Component (7): nuclear inner membrane (GO:0005637), nucleoplasm (GO:0005654), intermediate filament (GO:0005882), nuclear matrix (GO:0016363), site of double-strand break (GO:0035861), nucleus (GO:0005634), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| nuclear lumen | 2 |
| double-strand break repair | 1 |
| protein localization to chromosome | 1 |
| chromosome attachment to the nuclear envelope | 1 |
| cytoskeletal protein binding | 1 |
| protein-macromolecule adaptor activity | 1 |
| binding | 1 |
| organelle inner membrane | 1 |
| nuclear membrane | 1 |
| intermediate filament cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| site of DNA damage | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
410 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IFFO1 | XRCC4 | Q13426 | 771 |
| IFFO1 | XRCC6 | P12956 | 552 |
| IFFO1 | XRCC5 | P13010 | 518 |
| IFFO1 | MARCHF9 | Q86YJ5 | 441 |
| IFFO1 | NEK11 | Q8NG66 | 415 |
| IFFO1 | NHEJ1 | Q9H9Q4 | 414 |
| IFFO1 | C11orf52 | Q96A22 | 396 |
| IFFO1 | PAXX | Q9BUH6 | 392 |
| IFFO1 | JMJD8 | Q96S16 | 376 |
| IFFO1 | CYREN | Q9BWK5 | 374 |
| IFFO1 | HID1 | Q8IV36 | 370 |
| IFFO1 | LIG4 | P49917 | 370 |
| IFFO1 | C5orf22 | Q49AR2 | 368 |
| IFFO1 | NEK9 | Q8TD19 | 354 |
| IFFO1 | AIRIM | Q9NX04 | 351 |
IntAct
57 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| XRCC4 | LIG4 | psi-mi:“MI:0914”(association) | 0.970 |
| XRCC4 | IFFO1 | psi-mi:“MI:0915”(physical association) | 0.820 |
| SNX32 | SNX2 | psi-mi:“MI:0914”(association) | 0.740 |
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| NHEJ1 | XRCC5 | psi-mi:“MI:0914”(association) | 0.710 |
| DYNLL2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| PPP1R13B | CCDC85C | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF331 | USP9Y | psi-mi:“MI:0914”(association) | 0.530 |
| XRCC4 | NFKB1 | psi-mi:“MI:0914”(association) | 0.530 |
| COG5 | BSG | psi-mi:“MI:0914”(association) | 0.530 |
| LMNA | IFFO1 | psi-mi:“MI:0914”(association) | 0.500 |
| IFFO1 | LMNA | psi-mi:“MI:0915”(physical association) | 0.500 |
| IFFO1 | LMNA | psi-mi:“MI:0915”(physical association) | 0.400 |
| LIG4 | XRCC5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IFFO1 | XRCC5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IFFO1 | RNF183 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ACAP1 | IFFO1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| EGLN3 | FAM168B | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| rep | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| KRT2 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM167A | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAGEA9 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (74): IFFO1 (Affinity Capture-MS), IFFO1 (Affinity Capture-MS), IFFO1 (Two-hybrid), RNF183 (Two-hybrid), IFFO1 (Two-hybrid), TCHP (Two-hybrid), IFFO1 (Reconstituted Complex), IFFO1 (Affinity Capture-MS), IFFO1 (Affinity Capture-MS), IFFO1 (Affinity Capture-MS), IFFO1 (Affinity Capture-MS), IFFO1 (Affinity Capture-MS), IFFO1 (Affinity Capture-MS), IFFO1 (Affinity Capture-MS), IFFO1 (Affinity Capture-MS)
ESM2 similar proteins: A0A088MLT8, A2AQ25, B3KU38, B5DF41, E9PSK7, O15079, O35274, P0DPB3, P0DPB4, P12755, P49140, P85299, Q0D2I5, Q14DQ1, Q1LY51, Q3B7M3, Q3SYW5, Q4KMA0, Q4R3X1, Q50H33, Q5F3L9, Q5FVG6, Q5RD40, Q5XKK7, Q60698, Q6ZNC4, Q6ZUS6, Q6ZWB6, Q80U23, Q80U62, Q80XA6, Q812A5, Q86YI8, Q8BXL9, Q8K2W6, Q8ND83, Q8NFH8, Q8QFX1, Q8TEK3, Q924W7
Diamond homologs: A5A6M8, A6QNX5, O77788, O93532, P02542, P05786, P05787, P07196, P07197, P08552, P08553, P08776, P08777, P0C6R4, P11679, P12839, P13647, P16053, P16878, P23565, P46660, P48671, P48677, P54938, Q02916, Q08DH7, Q0D2I5, Q16352, Q5R408, Q5RA72, Q5TF58, Q5XKE5, Q5XQN5, Q6IG12, Q6P6Q2, Q6PVZ1, Q8BXL9, Q8R2V2, Q922U2, Q9DCV7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 68 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Formation of the cornified envelope | 6 | 14.2× | 3e-04 |
| Keratinization | 6 | 9.0× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| double-strand break repair via nonhomologous end joining | 5 | 37.0× | 4e-05 |
| intermediate filament organization | 7 | 29.6× | 1e-06 |
| keratinization | 5 | 20.5× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
101 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 91 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1646 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:6540585:CTTT:C | acceptor_gain | 1.0000 |
| 12:6541507:CCTA:C | donor_loss | 1.0000 |
| 12:6541508:CTAC:C | donor_loss | 1.0000 |
| 12:6541509:TACC:T | donor_loss | 1.0000 |
| 12:6541510:A:T | donor_loss | 1.0000 |
| 12:6541511:CCGGT:C | donor_gain | 1.0000 |
| 12:6541639:CCAG:C | acceptor_gain | 1.0000 |
| 12:6541640:CAG:C | acceptor_gain | 1.0000 |
| 12:6541640:CAGC:C | acceptor_gain | 1.0000 |
| 12:6541643:C:CC | acceptor_gain | 1.0000 |
| 12:6548059:CCTTA:C | donor_loss | 1.0000 |
| 12:6548060:CTTA:C | donor_loss | 1.0000 |
| 12:6548061:TTA:T | donor_loss | 1.0000 |
| 12:6548062:TA:T | donor_loss | 1.0000 |
| 12:6548063:ACCTC:A | donor_loss | 1.0000 |
| 12:6548064:C:G | donor_loss | 1.0000 |
| 12:6548457:AG:A | donor_gain | 1.0000 |
| 12:6548617:T:TA | donor_gain | 1.0000 |
| 12:6548666:A:AC | donor_gain | 1.0000 |
| 12:6548667:C:CC | donor_gain | 1.0000 |
| 12:6548667:CAG:C | donor_gain | 1.0000 |
| 12:6549752:TCA:T | donor_loss | 1.0000 |
| 12:6549753:CAC:C | donor_loss | 1.0000 |
| 12:6549754:A:AC | donor_gain | 1.0000 |
| 12:6549755:C:CC | donor_gain | 1.0000 |
| 12:6549897:C:CC | acceptor_gain | 1.0000 |
| 12:6549902:C:CT | acceptor_gain | 1.0000 |
| 12:6549902:C:T | acceptor_gain | 1.0000 |
| 12:6549903:A:T | acceptor_gain | 1.0000 |
| 12:6549911:C:CT | acceptor_gain | 1.0000 |
AlphaMissense
3709 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:6541533:A:G | L518P | 1.000 |
| 12:6541536:C:G | R517P | 1.000 |
| 12:6541539:C:G | R516P | 1.000 |
| 12:6541543:A:G | C515R | 1.000 |
| 12:6541551:A:G | M512T | 1.000 |
| 12:6541561:C:G | D509H | 1.000 |
| 12:6541563:A:G | L508P | 1.000 |
| 12:6541563:A:T | L508Q | 1.000 |
| 12:6541567:C:G | G507R | 1.000 |
| 12:6541569:C:G | R506P | 1.000 |
| 12:6541570:G:T | R506S | 1.000 |
| 12:6541571:C:A | K505N | 1.000 |
| 12:6541571:C:G | K505N | 1.000 |
| 12:6541573:T:C | K505E | 1.000 |
| 12:6541577:G:C | S503R | 1.000 |
| 12:6541577:G:T | S503R | 1.000 |
| 12:6541579:T:G | S503R | 1.000 |
| 12:6541580:G:C | C502W | 1.000 |
| 12:6541581:C:T | C502Y | 1.000 |
| 12:6541582:A:G | C502R | 1.000 |
| 12:6541583:C:A | M501I | 1.000 |
| 12:6541583:C:G | M501I | 1.000 |
| 12:6541583:C:T | M501I | 1.000 |
| 12:6541584:A:C | M501R | 1.000 |
| 12:6541584:A:G | M501T | 1.000 |
| 12:6541593:T:C | Y498C | 1.000 |
| 12:6541594:A:G | Y498H | 1.000 |
| 12:6541602:A:G | L495P | 1.000 |
| 12:6541602:A:T | L495Q | 1.000 |
| 12:6541605:T:G | H494P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000043749 (12:6545838 G>A), RS1000108220 (12:6543285 G>A,C), RS1000335740 (12:6553504 C>G), RS1000398238 (12:6556824 T>TA), RS1000453804 (12:6553332 A>T), RS1000495382 (12:6541927 T>C), RS1000561343 (12:6550020 C>T), RS1000626349 (12:6551241 T>A), RS1000647946 (12:6546839 C>G), RS1000744627 (12:6555942 C>A), RS1001016943 (12:6550185 C>T), RS1001439727 (12:6538703 A>G), RS1001505905 (12:6543801 A>C), RS1001754507 (12:6538862 G>A,C), RS1001787041 (12:6541064 G>A,C)
Disease associations
OMIM: gene MIM:610495 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008159_50 | Waist-to-hip ratio adjusted for BMI | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| arsenite | increases methylation | 1 |
| mono-(2-ethylhexyl)phthalate | increases abundance, increases methylation | 1 |
| 2-amino-9H-pyrido(2,3-b)indole | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| tobacco tar | decreases reaction, increases expression | 1 |
| diallyl disulfide | decreases reaction, increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| jinfukang | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Calcitriol | decreases expression | 1 |
| Diethylhexyl Phthalate | increases methylation, increases abundance | 1 |
| Doxorubicin | increases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Vitamin E | increases expression | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Particulate Matter | increases abundance, decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.