FAM98A
geneOn this page
Also known as DKFZP564F0522
Summary
FAM98A (family with sequence similarity 98 member A, HGNC:24520) is a protein-coding gene on chromosome 2p22.3, encoding Protein FAM98A (Q8NCA5). Positively stimulates PRMT1-induced protein arginine methylation.
Enables protein methyltransferase activity. Involved in positive regulation of cell population proliferation; positive regulation of gene expression; and protein methylation. Predicted to be located in cytoplasm and nucleus. Predicted to be part of tRNA-splicing ligase complex.
Source: NCBI Gene 25940 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 87 total
- MANE Select transcript:
NM_015475
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24520 |
| Approved symbol | FAM98A |
| Name | family with sequence similarity 98 member A |
| Location | 2p22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP564F0522 |
| Ensembl gene | ENSG00000119812 |
| Ensembl biotype | protein_coding |
| OMIM | 620904 |
| Entrez | 25940 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 8 retained_intron, 5 nonsense_mediated_decay, 4 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000238823, ENST00000403368, ENST00000437680, ENST00000464415, ENST00000474985, ENST00000475122, ENST00000492649, ENST00000685835, ENST00000687030, ENST00000689312, ENST00000689698, ENST00000689713, ENST00000690423, ENST00000690429, ENST00000692348, ENST00000692917, ENST00000693631, ENST00000693737
RefSeq mRNA: 2 — MANE Select: NM_015475
NM_001304538, NM_015475
CCDS: CCDS33179, CCDS92735
Canonical transcript exons
ENST00000238823 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001698792 | 33588335 | 33588519 |
| ENSE00001899085 | 33599169 | 33599299 |
| ENSE00001928155 | 33583660 | 33585444 |
| ENSE00003463957 | 33585530 | 33585697 |
| ENSE00003547734 | 33595489 | 33595637 |
| ENSE00003590748 | 33586562 | 33586678 |
| ENSE00003608806 | 33587240 | 33587320 |
| ENSE00003669055 | 33592080 | 33592214 |
Expression profiles
Bgee: expression breadth ubiquitous, 297 present calls, max score 97.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.7496 / max 797.7526, expressed in 1802 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 27719 | 26.7603 | 1799 |
| 27718 | 2.7308 | 1373 |
| 27720 | 0.2585 | 103 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibia | UBERON:0000979 | 97.25 | gold quality |
| male germ cell | CL:0000015 | 96.02 | gold quality |
| sperm | CL:0000019 | 95.83 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 95.81 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 95.39 | gold quality |
| pons | UBERON:0000988 | 95.35 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 95.33 | gold quality |
| heart right ventricle | UBERON:0002080 | 95.07 | gold quality |
| biceps brachii | UBERON:0001507 | 95.00 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 94.96 | gold quality |
| endothelial cell | CL:0000115 | 94.92 | silver quality |
| choroid plexus epithelium | UBERON:0003911 | 94.92 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 94.90 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 94.74 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 94.69 | gold quality |
| stromal cell of endometrium | CL:0002255 | 94.66 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 94.52 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 94.31 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 94.29 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 94.24 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.17 | gold quality |
| body of tongue | UBERON:0011876 | 94.15 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.12 | gold quality |
| gingival epithelium | UBERON:0001949 | 93.98 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 93.98 | gold quality |
| decidua | UBERON:0002450 | 93.87 | gold quality |
| gingiva | UBERON:0001828 | 93.77 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 93.75 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 93.75 | gold quality |
| islet of Langerhans | UBERON:0000006 | 93.67 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.14 |
| E-MTAB-6379 | no | 51.75 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
115 targeting FAM98A, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| 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-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
Literature-anchored findings (GeneRIF, showing 4)
- FAM98A is expressed in numerous ovarian cancer cell lines and is important for the malignant characteristics of ovarian cancer cells. (PMID:26503212)
- the two structural homologs FAM98A and FAM98B included in a novel complex with DDX1 and C14orf166 are required for PRMT1 expression in colorectal cancer cell lines (PMID:28040436)
- Mechanistically, it was demonstrated that miR-142-3p directly targeted FAM98A, and modulated its expression. (PMID:31114934)
- Circular RNA intraflagellar transport 80 facilitates endometrial cancer progression through modulating miR-545-3p/FAM98A signaling. (PMID:34783205)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fam98a | ENSDARG00000078391 |
| mus_musculus | Fam98a | ENSMUSG00000002017 |
| rattus_norvegicus | Fam98a | ENSRNOG00000030328 |
| drosophila_melanogaster | CG5913 | FBGN0039385 |
| caenorhabditis_elegans | WBGENE00044326 |
Paralogs (2): FAM98C (ENSG00000130244), FAM98B (ENSG00000171262)
Protein
Protein identifiers
Protein FAM98A — Q8NCA5 (reviewed: Q8NCA5)
All UniProt accessions (9): A0A8I5KR56, A0A8I5KX90, A0A8I5KXK5, A0A8I5KZA5, Q8NCA5, A0A8I5QKV4, A0A8I5QKV5, B4DT23, E9PH82
UniProt curated annotations — full annotation on UniProt →
Function. Positively stimulates PRMT1-induced protein arginine methylation. Involved in skeletal homeostasis. Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts.
Subunit / interactions. Interacts (via N- and C-terminus) with DDX1. Interacts (via N- and C-terminus) with C14orf166. Interacts with FAM98B. Interacts with PLEKHM1 (via N- and C-terminus).
Tissue specificity. Expressed strongly in colorectal cancer cells. Expressed strongly in colorectal cancer tissues compared to wild-type colon samples (at protein level). Expressed strongly in colorectal cancer tissues compared to wild-type colon samples.
Similarity. Belongs to the FAM98 family.
RefSeq proteins (2): NP_001291467, NP_056290* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018797 | FAM98 | Family |
Pfam: PF10239
UniProt features (13 total): compositionally biased region 8, region of interest 2, sequence conflict 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NCA5-F1 | 68.95 | 0.41 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 213 (showing top):
MYOGENIN_Q6, TGCGCANK_UNKNOWN, BASSO_B_LYMPHOCYTE_NETWORK, GOBP_TRNA_METABOLIC_PROCESS, GOBP_REGULATION_OF_RUFFLE_ASSEMBLY, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, CAGCTG_AP4_Q5, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, MYOD_01, GOBP_RNA_SPLICING_VIA_ENDONUCLEOLYTIC_CLEAVAGE_AND_LIGATION, GOBP_RNA_SPLICING, OCT1_07
GO Biological Process (6): tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388), protein methylation (GO:0006479), positive regulation of cell population proliferation (GO:0008284), positive regulation of gene expression (GO:0010628), lysosome localization (GO:0032418), positive regulation of ruffle assembly (GO:1900029)
GO Molecular Function (3): RNA binding (GO:0003723), protein methyltransferase activity (GO:0008276), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), tRNA-splicing ligase complex (GO:0072669)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA splicing, via endonucleolytic cleavage and ligation | 1 |
| tRNA processing | 1 |
| protein alkylation | 1 |
| macromolecule methylation | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| vacuolar localization | 1 |
| ruffle assembly | 1 |
| positive regulation of plasma membrane bounded cell projection assembly | 1 |
| regulation of ruffle assembly | 1 |
| nucleic acid binding | 1 |
| methyltransferase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| intracellular protein-containing complex | 1 |
| catalytic complex | 1 |
Protein interactions and networks
STRING
1052 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FAM98A | DDX1 | Q92499 | 893 |
| FAM98A | RTCB | Q9Y3I0 | 729 |
| FAM98A | RTRAF | Q9Y224 | 727 |
| FAM98A | ATXN2 | Q99700 | 691 |
| FAM98A | HNRNPUL2 | Q1KMD3 | 666 |
| FAM98A | DHX36 | Q9H2U1 | 657 |
| FAM98A | NUFIP2 | Q7Z417 | 647 |
| FAM98A | DHX15 | O43143 | 640 |
| FAM98A | ELAVL1 | Q15717 | 621 |
| FAM98A | C2orf49 | Q9BVC5 | 620 |
| FAM98A | PRPF3 | O43395 | 612 |
| FAM98A | NDEL1 | Q9GZM8 | 592 |
| FAM98A | ATXN2L | Q8WWM7 | 580 |
| FAM98A | ELAVL4 | P26378 | 569 |
| FAM98A | ELAVL3 | Q14576 | 569 |
IntAct
122 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GDI1 | RAB4A | psi-mi:“MI:0914”(association) | 0.820 |
| FAM98A | RTRAF | psi-mi:“MI:0915”(physical association) | 0.810 |
| RTRAF | FAM98A | psi-mi:“MI:0915”(physical association) | 0.810 |
| FAM98A | DDX1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| DDX1 | FAM98A | psi-mi:“MI:0915”(physical association) | 0.780 |
| NS | PIK3R2 | psi-mi:“MI:0914”(association) | 0.750 |
| FAM98A | HERC2 | psi-mi:“MI:0914”(association) | 0.640 |
| FAM98A | NUFIP2 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAG | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAH | BLTP3B | psi-mi:“MI:0914”(association) | 0.570 |
| tat | PPM1G | psi-mi:“MI:0914”(association) | 0.560 |
| RACGAP1 | CHEK1 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RRP9 | psi-mi:“MI:0914”(association) | 0.530 |
| N | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| FUS | DDX3X | psi-mi:“MI:0914”(association) | 0.430 |
| FAM98A | FAM98B | psi-mi:“MI:0915”(physical association) | 0.400 |
| FAM98A | FAM98A | psi-mi:“MI:0915”(physical association) | 0.400 |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| SDC1 | ILVBL | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (312): FAM98A (Affinity Capture-MS), C14orf166 (Two-hybrid), FAM98A (Affinity Capture-RNA), FAM98A (Affinity Capture-MS), FAM98A (Affinity Capture-MS), FAM98A (Affinity Capture-MS), FAM98A (Affinity Capture-MS), C14orf166 (Co-fractionation), FAM98A (Co-fractionation), FAM98A (Co-fractionation), PFKM (Co-fractionation), FAM98A (Affinity Capture-MS), FAM98A (Affinity Capture-MS), FAM98A (Affinity Capture-MS), FAM98A (Affinity Capture-MS)
ESM2 similar proteins: A4IFB1, A6H7H1, A9ULY7, B1H1X4, B5DDX6, B5DF93, B5X165, D3Z8X7, O60308, P70501, Q05AW9, Q28HX4, Q3TC46, Q3TJZ6, Q52LJ0, Q5EA95, Q5FWT1, Q5R4R4, Q5R539, Q5R679, Q5R8Q4, Q5RHQ8, Q60520, Q62418, Q66I22, Q6A0A9, Q6DEZ2, Q6IVW0, Q80V31, Q80VD1, Q86TB9, Q8BH43, Q8BXG3, Q8CBY3, Q8CDG3, Q8CF97, Q8K2L8, Q8NCA5, Q8ND56, Q8R3P2
Diamond homologs: Q17RN3, Q3TJZ6, Q52LJ0, Q5FWT1, Q5R679, Q80VD1, Q8NCA5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 122 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 |
|---|---|---|---|
| SARS-CoV-1-host interactions | 7 | 14.8× | 2e-04 |
| Nonsense-Mediated Decay (NMD) | 5 | 14.0× | 3e-03 |
| Formation of the ternary complex, and subsequently, the 43S complex | 5 | 13.0× | 3e-03 |
| Translation initiation complex formation | 5 | 11.5× | 3e-03 |
| Ribosomal scanning and start codon recognition | 5 | 11.5× | 3e-03 |
| SARS-CoV-1 Infection | 6 | 10.3× | 3e-03 |
| rRNA processing in the nucleus and cytosol | 5 | 9.7× | 5e-03 |
| Signaling by ALK fusions and activated point mutants | 5 | 9.1× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intrinsic apoptotic signaling pathway | 5 | 17.4× | 1e-03 |
| negative regulation of translation | 7 | 13.3× | 4e-04 |
| ribosomal small subunit biogenesis | 6 | 13.3× | 1e-03 |
| cytoplasmic translation | 7 | 12.6× | 4e-04 |
| positive regulation of translation | 5 | 11.1× | 6e-03 |
| rRNA processing | 6 | 8.2× | 6e-03 |
| translation | 7 | 7.0× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 81 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2270 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:33543508:GCA:G | acceptor_loss | 1.0000 |
| 2:33543509:CAGT:C | acceptor_loss | 1.0000 |
| 2:33543510:A:AG | acceptor_gain | 1.0000 |
| 2:33543510:AGTC:A | acceptor_loss | 1.0000 |
| 2:33543510:AGTCT:A | acceptor_gain | 1.0000 |
| 2:33543511:G:GG | acceptor_gain | 1.0000 |
| 2:33543511:GT:G | acceptor_gain | 1.0000 |
| 2:33543511:GTCT:G | acceptor_gain | 1.0000 |
| 2:33543511:GTCTG:G | acceptor_gain | 1.0000 |
| 2:33543623:GATCA:G | donor_gain | 1.0000 |
| 2:33543624:A:G | donor_gain | 1.0000 |
| 2:33543624:ATCA:A | donor_gain | 1.0000 |
| 2:33543625:TCA:T | donor_gain | 1.0000 |
| 2:33543628:G:GG | donor_gain | 1.0000 |
| 2:33549747:GATTT:G | donor_gain | 1.0000 |
| 2:33549748:ATTT:A | donor_gain | 1.0000 |
| 2:33549752:G:GG | donor_gain | 1.0000 |
| 2:33585693:TGGCT:T | acceptor_gain | 1.0000 |
| 2:33585694:GGCT:G | acceptor_gain | 1.0000 |
| 2:33585696:CT:C | acceptor_gain | 1.0000 |
| 2:33585698:C:CC | acceptor_gain | 1.0000 |
| 2:33585701:T:TC | acceptor_gain | 1.0000 |
| 2:33586557:TGTA:T | donor_loss | 1.0000 |
| 2:33586558:GTACC:G | donor_loss | 1.0000 |
| 2:33586559:TAC:T | donor_loss | 1.0000 |
| 2:33586561:C:A | donor_loss | 1.0000 |
| 2:33586566:G:C | donor_gain | 1.0000 |
| 2:33586677:TC:T | acceptor_gain | 1.0000 |
| 2:33586678:CC:C | acceptor_gain | 1.0000 |
| 2:33586679:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
3328 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:33585367:C:A | W322C | 1.000 |
| 2:33585367:C:G | W322C | 1.000 |
| 2:33585369:A:G | W322R | 1.000 |
| 2:33585369:A:T | W322R | 1.000 |
| 2:33585377:A:C | M319R | 1.000 |
| 2:33585377:A:G | M319T | 1.000 |
| 2:33585409:T:A | R308S | 1.000 |
| 2:33585409:T:G | R308S | 1.000 |
| 2:33585410:C:G | R308T | 1.000 |
| 2:33585414:C:G | G307R | 1.000 |
| 2:33585416:C:A | G306V | 1.000 |
| 2:33585416:C:T | G306D | 1.000 |
| 2:33585417:C:A | G306C | 1.000 |
| 2:33585417:C:G | G306R | 1.000 |
| 2:33585418:T:A | R305S | 1.000 |
| 2:33585418:T:G | R305S | 1.000 |
| 2:33585419:C:A | R305I | 1.000 |
| 2:33585419:C:G | R305T | 1.000 |
| 2:33585422:T:A | D304V | 1.000 |
| 2:33585422:T:C | D304G | 1.000 |
| 2:33585422:T:G | D304A | 1.000 |
| 2:33585423:C:G | D304H | 1.000 |
| 2:33585437:A:G | M299T | 1.000 |
| 2:33586577:C:A | W235C | 1.000 |
| 2:33586577:C:G | W235C | 1.000 |
| 2:33586579:A:G | W235R | 1.000 |
| 2:33586579:A:T | W235R | 1.000 |
| 2:33586588:A:G | S232P | 1.000 |
| 2:33586617:A:G | L222P | 1.000 |
| 2:33585358:C:A | R325S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000251531 (2:33599649 C>T), RS1000498688 (2:33590242 A>C,G), RS1000700693 (2:33596150 CT>C,CTT), RS1000827508 (2:33597640 C>T), RS1001155098 (2:33597320 C>T), RS1001224851 (2:33587455 A>G), RS1001254744 (2:33594221 T>C), RS1001287152 (2:33594479 C>A,T), RS1001313528 (2:33593581 C>T), RS1001491796 (2:33599707 C>G), RS1001525949 (2:33598784 A>G), RS1001817969 (2:33599565 G>C), RS1002225387 (2:33588668 C>A,T), RS1002274978 (2:33592970 C>A,T), RS1002292909 (2:33593143 C>G,T)
Disease associations
OMIM: gene MIM:620904 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000390_1 | Hypertension (young onset) | 3.000000e-10 |
| GCST003461_2 | IgG response to Plasmodium falciparum antigens (GLURP, MSP2 FC27, MSP2 3D7) | 8.000000e-06 |
| GCST003803_1 | Response to antidepressants in depression | 2.000000e-07 |
| GCST003812_5 | Non-response to antidepressants and depression | 2.000000e-06 |
| GCST003876_3 | Gut microbiota (beta diversity) | 5.000000e-08 |
| GCST004068_49 | Venous thromboembolism adjusted for sickle cell variant rs77121243-T | 9.000000e-07 |
| GCST006304_3 | Irritable bowel syndrome | 2.000000e-06 |
| GCST008765_2 | Perceived intensity of aspartame | 4.000000e-06 |
| GCST009391_1298 | Metabolite levels | 5.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007812 | Plasmodium falciparum antigen IgG measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0010549 | xanthosine measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
57 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| bisphenol A | decreases expression | 2 |
| sodium arsenite | increases activity, affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| tremortin | increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| isobutyl alcohol | increases abundance, increases expression, affects cotreatment | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| chloropicrin | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| bisphenol AF | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic | increases abundance, increases expression, affects cotreatment | 1 |
| Benzene | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1RW | Abcam HeLa FAM98A KO | Cancer cell line | Female |
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): early onset hypertension, irritable bowel syndrome, mood disorder