ZFYVE19
gene geneOn this page
Also known as FLJ14840ANCHRMPFYVE
Summary
ZFYVE19 (zinc finger FYVE-type containing 19, HGNC:20758) is a protein-coding gene on chromosome 15q15.1, encoding Abscission/NoCut checkpoint regulator (Q96K21). Key regulator of abscission step in cytokinesis: part of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage.
Enables phosphatidylinositol-3-phosphate binding activity. Involved in midbody abscission; mitotic cytokinesis checkpoint signaling; and negative regulation of cytokinesis. Located in centrosome; cleavage furrow; and midbody. Implicated in progressive familial intrahepatic cholestasis.
Source: NCBI Gene 84936 — RefSeq curated summary.
At a glance
- Gene–disease (curated): cholestasis, progressive familial intrahepatic, 9 (Strong, GenCC)
- GWAS associations: 4
- Clinical variants (ClinVar): 105 total — 6 pathogenic, 3 likely-pathogenic
- Phenotypes (HPO): 15
- MANE Select transcript:
NM_001077268
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20758 |
| Approved symbol | ZFYVE19 |
| Name | zinc finger FYVE-type containing 19 |
| Location | 15q15.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14840, ANCHR, MPFYVE |
| Ensembl gene | ENSG00000166140 |
| Ensembl biotype | protein_coding |
| OMIM | 619635 |
| Entrez | 84936 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 8 protein_coding, 4 nonsense_mediated_decay, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000299173, ENST00000336455, ENST00000355341, ENST00000560078, ENST00000561617, ENST00000561768, ENST00000563497, ENST00000563530, ENST00000564258, ENST00000566407, ENST00000566767, ENST00000567756, ENST00000568062, ENST00000569057, ENST00000570108, ENST00000570162
RefSeq mRNA: 4 — MANE Select: NM_001077268
NM_001077268, NM_001258420, NM_001258421, NM_032850
CCDS: CCDS42025, CCDS58353, CCDS58354, CCDS58355
Canonical transcript exons
ENST00000355341 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001402271 | 40807089 | 40807868 |
| ENSE00003488062 | 40813713 | 40813811 |
| ENSE00003507950 | 40809408 | 40809458 |
| ENSE00003528556 | 40809852 | 40809970 |
| ENSE00003615397 | 40813338 | 40813417 |
| ENSE00003638377 | 40813943 | 40814070 |
| ENSE00003639833 | 40809119 | 40809240 |
| ENSE00003663650 | 40810649 | 40810757 |
| ENSE00003668027 | 40810071 | 40810216 |
| ENSE00003741525 | 40814148 | 40815084 |
| ENSE00003788632 | 40812699 | 40812902 |
Expression profiles
Bgee: expression breadth ubiquitous, 211 present calls, max score 95.81.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.5601 / max 80.7556, expressed in 1798 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 146133 | 6.2242 | 1773 |
| 146134 | 3.1841 | 1395 |
| 146135 | 1.9393 | 1167 |
| 146136 | 0.2125 | 98 |
Top tissues by expression
246 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 95.81 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.91 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 93.85 | gold quality |
| granulocyte | CL:0000094 | 93.36 | gold quality |
| apex of heart | UBERON:0002098 | 93.15 | gold quality |
| right lobe of liver | UBERON:0001114 | 92.37 | gold quality |
| minor salivary gland | UBERON:0001830 | 91.15 | gold quality |
| spinal cord | UBERON:0002240 | 91.03 | gold quality |
| esophagus mucosa | UBERON:0002469 | 90.66 | gold quality |
| metanephros cortex | UBERON:0010533 | 90.66 | gold quality |
| right uterine tube | UBERON:0001302 | 90.55 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.37 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.19 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.10 | gold quality |
| cerebellar cortex | UBERON:0002129 | 89.92 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.89 | gold quality |
| gall bladder | UBERON:0002110 | 89.62 | gold quality |
| transverse colon | UBERON:0001157 | 89.59 | gold quality |
| right frontal lobe | UBERON:0002810 | 89.21 | gold quality |
| endocervix | UBERON:0000458 | 88.91 | gold quality |
| esophagus | UBERON:0001043 | 88.76 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 88.67 | gold quality |
| body of stomach | UBERON:0001161 | 88.59 | gold quality |
| prefrontal cortex | UBERON:0000451 | 88.57 | gold quality |
| stromal cell of endometrium | CL:0002255 | 88.53 | gold quality |
| skin of abdomen | UBERON:0001416 | 88.51 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 88.47 | gold quality |
| vermiform appendix | UBERON:0001154 | 88.32 | gold quality |
| small intestine | UBERON:0002108 | 88.32 | gold quality |
| right ovary | UBERON:0002118 | 88.28 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.81 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
4 targeting ZFYVE19, 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-7151-5P | 99.37 | 67.82 | 613 |
| HSA-MIR-670-3P | 99.03 | 68.88 | 2404 |
| HSA-MIR-1-5P | 98.70 | 68.66 | 1017 |
| HSA-MIR-6811-3P | 98.62 | 66.54 | 944 |
Literature-anchored findings (GeneRIF, showing 4)
- In a transcript from a patient with AML-M2, MLL is fused to a novel gene: MLL partner containing FYVE domain (MPFYVE). MPFYVE is also located on chromosome 15, about 170 kb telomeric to AF15q14. MPFYVE contains the highly conserved FYVE domain. [MPFYVE] (PMID:12618766)
- Propose that the abscission checkpoint is mediated by ANCHR and CHMP4C through retention of VPS4 at the midbody ring. (PMID:24814515)
- Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis. (PMID:32737136)
- ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death. (PMID:38816193)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zfyve19 | ENSDARG00000003642 |
| mus_musculus | Zfyve19 | ENSMUSG00000068580 |
| rattus_norvegicus | Zfyve19 | ENSRNOG00000012528 |
| drosophila_melanogaster | CG6051 | FBGN0039492 |
| caenorhabditis_elegans | WBGENE00003084 |
Paralogs (13): RUFY3 (ENSG00000018189), ZFYVE16 (ENSG00000039319), SNX29 (ENSG00000048471), ZFYVE26 (ENSG00000072121), RUNDC3B (ENSG00000105784), RUNDC3A (ENSG00000108309), PLEKHM2 (ENSG00000116786), ZFYVE28 (ENSG00000159733), ZFYVE1 (ENSG00000165861), PLEKHF1 (ENSG00000166289), PLEKHF2 (ENSG00000175895), RUFY1 (ENSG00000176783), RUFY2 (ENSG00000204130)
Protein
Protein identifiers
Abscission/NoCut checkpoint regulator — Q96K21 (reviewed: Q96K21)
Alternative names: MLL partner containing FYVE domain, Zinc finger FYVE domain-containing protein 19
All UniProt accessions (9): Q96K21, H3BN64, H3BP54, H3BRF9, H3BRM1, H3BS07, H3BSF5, H3BUW6, H3BVF5
UniProt curated annotations — full annotation on UniProt →
Function. Key regulator of abscission step in cytokinesis: part of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage. Together with CHMP4C, required to retain abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis. Deactivation of AURKB results in dephosphorylation of CHMP4C followed by its dissociation from ZFYVE19/ANCHR and VPS4 and subsequent abscission.
Subunit / interactions. Interacts (via MIM1-B) with VPS4A; interaction takes place at the midbody ring following cytokinesis checkpoint activation.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Cleavage furrow. Midbody. Midbody ring.
Tissue specificity. Detected in brain, heart, skeletal muscle and kidney. Expressed in the liver (at protein level).
Post-translational modifications. Phosphorylated in vitro at Ser-22 by AURKB; however, phosphorylation at this site could not be confirmed in vivo.
Disease relevance. A chromosomal aberration involving ZFYVE19 is associated with acute myeloblastic leukemia (AML). Translocation t(11;15)(q23;q14) with KMT2A/MLL1. Cholestasis, progressive familial intrahepatic, 9 (PFIC9) [MIM:619849] An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC9 onset is in infancy or early childhood. The disease is caused by variants affecting the gene represented in this entry. Some evidences point to Met-76 as the main translation initiation site. In this context, PFIC9-associated variant p.M76V can disrupt translation initiation.
Domain organisation. The FYVE-type zinc finger mediates binding to phosphatidylinositol-3-phosphate (PtdIns(3)P). The MIM1-B motif mediates interaction with VPS4A.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96K21-1 | 1 | yes |
| Q96K21-2 | 2 | |
| Q96K21-3 | 3 | |
| Q96K21-4 | 4 |
RefSeq proteins (4): NP_001070736, NP_001245349, NP_001245350, NP_116239 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000306 | Znf_FYVE | Domain |
| IPR011011 | Znf_FYVE_PHD | Homologous_superfamily |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR017455 | Znf_FYVE-rel | Domain |
| IPR044553 | Bbox1_ANCHR | Domain |
Pfam: PF01363, PF22586
UniProt features (39 total): sequence variant 9, binding site 8, modified residue 6, region of interest 3, splice variant 3, short sequence motif 2, chain 1, zinc finger region 1, site 1, cross-link 1, mutagenesis site 1, sequence conflict 1, coiled-coil region 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96K21-F1 | 69.82 | 0.18 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 145–146 (breakpoint for translocation to form kmt2a/mll1-zfyve19)
Ligand- & substrate-binding residues (8): 83; 96; 99; 104; 107; 125; 128; 80
Post-translational modifications (7): 144, 243, 293, 354, 463, 207, 286
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 101 | abolishes binding to phosphatidylinositol-3-phosphate (ptdins(3)p) without affecting localization to the midbody. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 163 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_UP, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_MITOTIC_CYTOKINESIS, GOBP_NEGATIVE_REGULATION_OF_CELL_DIVISION, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_CYTOKINETIC_PROCESS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_REGULATION_OF_CELL_CYCLE_G2_M_PHASE_TRANSITION, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_CYTOKINESIS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CELL_CYCLE, GOCC_CENTROSOME, GOBP_REGULATION_OF_CYTOKINESIS, GOBP_NEGATIVE_REGULATION_OF_MITOTIC_CELL_CYCLE
GO Biological Process (4): negative regulation of cytokinesis (GO:0032466), mitotic cytokinesis checkpoint signaling (GO:0044878), midbody abscission (GO:0061952), cell division (GO:0051301)
GO Molecular Function (5): zinc ion binding (GO:0008270), phosphatidylinositol-3-phosphate binding (GO:0032266), protein binding (GO:0005515), lipid binding (GO:0008289), metal ion binding (GO:0046872)
GO Cellular Component (6): centrosome (GO:0005813), midbody (GO:0030496), cleavage furrow (GO:0032154), Flemming body (GO:0090543), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| binding | 2 |
| cytokinesis | 1 |
| negative regulation of cell cycle process | 1 |
| regulation of cytokinesis | 1 |
| negative regulation of cell division | 1 |
| mitotic cell cycle checkpoint signaling | 1 |
| negative regulation of G2/M transition of mitotic cell cycle | 1 |
| membrane organization | 1 |
| mitotic cytokinetic process | 1 |
| cellular process | 1 |
| transition metal ion binding | 1 |
| phosphatidylinositol phosphate binding | 1 |
| cation binding | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| cell division site | 1 |
| plasma membrane region | 1 |
| midbody | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1307 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZFYVE19 | CHMP4C | Q96CF2 | 740 |
| ZFYVE19 | DNAJC17 | Q9NVM6 | 527 |
| ZFYVE19 | LRRC57 | Q8N9N7 | 520 |
| ZFYVE19 | CHMP6 | Q96FZ7 | 519 |
| ZFYVE19 | IST1 | P53990 | 518 |
| ZFYVE19 | CT45A2 | Q5DJT8 | 506 |
| ZFYVE19 | PUS7L | Q9H0K6 | 504 |
| ZFYVE19 | VPS25 | Q9BRG1 | 487 |
| ZFYVE19 | AURKB | Q96GD4 | 486 |
| ZFYVE19 | CHMP4A | Q9BY43 | 479 |
| ZFYVE19 | C15orf62 | A8K5M9 | 475 |
| ZFYVE19 | CHMP2A | O43633 | 462 |
| ZFYVE19 | VWC2L | B2RUY7 | 450 |
| ZFYVE19 | ULK3 | Q6PHR2 | 446 |
| ZFYVE19 | PABIR1 | Q96E09 | 446 |
IntAct
56 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZFYVE19 | VPS4B | psi-mi:“MI:0915”(physical association) | 0.780 |
| VPS4B | ZFYVE19 | psi-mi:“MI:0915”(physical association) | 0.780 |
| HTT | ZFYVE19 | psi-mi:“MI:0915”(physical association) | 0.740 |
| ZFYVE19 | HTT | psi-mi:“MI:0915”(physical association) | 0.740 |
| ZFYVE19 | MITD1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MITD1 | ZFYVE19 | psi-mi:“MI:0915”(physical association) | 0.720 |
BioGRID (62): ZFYVE19 (Two-hybrid), ZFYVE19 (Two-hybrid), ZFYVE19 (Two-hybrid), MITD1 (Two-hybrid), ZFYVE19 (Two-hybrid), ZFYVE19 (Affinity Capture-MS), ZFYVE19 (Co-fractionation), ZFYVE19 (Affinity Capture-MS), ZFYVE19 (Two-hybrid), ZFYVE19 (Two-hybrid), ZFYVE19 (Two-hybrid), ZFYVE19 (Two-hybrid), ZFYVE19 (Two-hybrid), ZFYVE19 (Two-hybrid), ZFYVE19 (Affinity Capture-RNA)
ESM2 similar proteins: A1L131, A4IFK7, C5IJB0, D3ZND0, F1MX48, O60232, O95400, P35689, Q0VCT3, Q17QX2, Q2KIJ6, Q2YD98, Q3ZBK7, Q3ZBN4, Q4R4I0, Q53GS7, Q5EAN7, Q5FVK6, Q5PPF5, Q5RAS2, Q5T0F9, Q68F60, Q69ZT1, Q6AYI4, Q6NU18, Q6TLH3, Q7L4P6, Q7TMX5, Q8BL74, Q8BRN9, Q8BSI6, Q8C0R7, Q8C6D4, Q8N5A5, Q8R322, Q8VDM1, Q91VL8, Q91WA6, Q91WR3, Q969X0
Diamond homologs: A0JMD2, A1CEK1, A1DFP5, A2QWA2, A3LX75, A4QTV1, A8QCE4, B0G126, B0WAQ0, B3MT31, B3P851, B4G2G5, B4IC49, B4JHI7, B4K982, B4M140, B4NFJ7, B4PRU6, D2H5P6, D3ZVP7, D4A8G9, O13821, O14964, O76902, O88387, O95405, O96838, P0CS26, P0CS27, P34657, P34756, P40343, Q05B78, Q0CJV3, Q0P4S0, Q0U4Z8, Q0V8S0, Q0WUR5, Q13615, Q15075
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 15 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| midbody abscission | 6 | 293.1× | 2e-12 |
| multivesicular body sorting pathway | 5 | 267.5× | 3e-10 |
| multivesicular body assembly | 6 | 210.7× | 9e-12 |
| protein transport | 5 | 14.6× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
105 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 6 |
| Likely pathogenic | 3 |
| Uncertain significance | 71 |
| Likely benign | 8 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (9)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1686832 | NM_001077268.2(ZFYVE19):c.314C>G (p.Ser105Ter) | Pathogenic |
| 1686833 | NM_001077268.2(ZFYVE19):c.226A>G (p.Met76Val) | Pathogenic |
| 1686834 | NM_001077268.2(ZFYVE19):c.514C>T (p.Arg172Ter) | Pathogenic |
| 1686835 | NM_001077268.2(ZFYVE19):c.547C>T (p.Arg183Ter) | Pathogenic |
| 1686836 | NM_001077268.2(ZFYVE19):c.379C>T (p.Gln127Ter) | Pathogenic |
| 1686837 | NM_001077268.2(ZFYVE19):c.667C>T (p.Arg223Ter) | Pathogenic |
| 3036314 | NM_001077268.2(ZFYVE19):c.1174C>T (p.Arg392Ter) | Likely pathogenic |
| 3391294 | NM_001077268.2(ZFYVE19):c.717+1G>T | Likely pathogenic |
| 4845728 | NM_001077268.2(ZFYVE19):c.122_123insGGGGCAGGGC (p.Glu46fs) | Likely pathogenic |
SpliceAI
2229 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:40807365:TCA:T | donor_loss | 1.0000 |
| 15:40807366:CA:C | donor_loss | 1.0000 |
| 15:40807367:A:C | donor_loss | 1.0000 |
| 15:40807368:C:CT | donor_loss | 1.0000 |
| 15:40807368:CCT:C | donor_gain | 1.0000 |
| 15:40809459:G:GG | donor_gain | 1.0000 |
| 15:40809966:GCCCA:G | donor_gain | 1.0000 |
| 15:40809971:G:GG | donor_gain | 1.0000 |
| 15:40813321:A:AG | acceptor_gain | 1.0000 |
| 15:40813321:AT:A | acceptor_gain | 1.0000 |
| 15:40813322:T:G | acceptor_gain | 1.0000 |
| 15:40813322:T:TA | acceptor_gain | 1.0000 |
| 15:40813335:A:AG | acceptor_gain | 1.0000 |
| 15:40813335:AAGT:A | acceptor_gain | 1.0000 |
| 15:40813336:A:G | acceptor_gain | 1.0000 |
| 15:40813336:AGT:A | acceptor_gain | 1.0000 |
| 15:40813337:G:GA | acceptor_gain | 1.0000 |
| 15:40813337:GT:G | acceptor_gain | 1.0000 |
| 15:40813337:GTG:G | acceptor_gain | 1.0000 |
| 15:40813337:GTGA:G | acceptor_gain | 1.0000 |
| 15:40813337:GTGAC:G | acceptor_gain | 1.0000 |
| 15:40813338:T:TA | acceptor_gain | 1.0000 |
| 15:40813413:AGCAG:A | donor_loss | 1.0000 |
| 15:40813414:GCAG:G | donor_gain | 1.0000 |
| 15:40813414:GCAGG:G | donor_loss | 1.0000 |
| 15:40813415:CAG:C | donor_loss | 1.0000 |
| 15:40813416:AG:A | donor_loss | 1.0000 |
| 15:40813417:GG:G | donor_loss | 1.0000 |
| 15:40813418:GT:G | donor_loss | 1.0000 |
| 15:40813419:T:G | donor_loss | 1.0000 |
AlphaMissense
3042 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:40807848:T:C | F87L | 0.998 |
| 15:40807850:C:A | F87L | 0.998 |
| 15:40807850:C:G | F87L | 0.998 |
| 15:40809212:T:C | C125R | 0.996 |
| 15:40807849:T:C | F87S | 0.994 |
| 15:40809149:T:C | C104R | 0.994 |
| 15:40809221:T:A | C128S | 0.994 |
| 15:40809222:G:C | C128S | 0.994 |
| 15:40809125:T:C | C96R | 0.993 |
| 15:40809212:T:A | C125S | 0.993 |
| 15:40809213:G:C | C125S | 0.993 |
| 15:40809221:T:C | C128R | 0.993 |
| 15:40807827:T:C | C80R | 0.992 |
| 15:40809125:T:A | C96S | 0.992 |
| 15:40809126:G:C | C96S | 0.992 |
| 15:40809213:G:A | C125Y | 0.992 |
| 15:40807827:T:A | C80S | 0.991 |
| 15:40807828:G:C | C80S | 0.991 |
| 15:40809146:T:C | F103L | 0.991 |
| 15:40809148:C:A | F103L | 0.991 |
| 15:40809148:C:G | F103L | 0.991 |
| 15:40809150:G:A | C104Y | 0.991 |
| 15:40809158:T:C | C107R | 0.991 |
| 15:40809149:T:A | C104S | 0.990 |
| 15:40809150:G:C | C104S | 0.990 |
| 15:40809158:T:A | C107S | 0.990 |
| 15:40809159:G:C | C107S | 0.990 |
| 15:40807849:T:G | F87C | 0.989 |
| 15:40809151:T:G | C104W | 0.989 |
| 15:40809210:T:A | V124D | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000378083 (15:40815497 G>A,T), RS1000592597 (15:40813181 C>A,G,T), RS1000936706 (15:40807270 G>A,C), RS1001595906 (15:40814359 T>C), RS1002161752 (15:40808619 G>A,C), RS1002498243 (15:40812967 T>A), RS1002720465 (15:40807160 A>G), RS1002950783 (15:40809622 G>A), RS1003606553 (15:40811199 A>C), RS1003660750 (15:40805686 C>T), RS1003691661 (15:40805116 A>G,T), RS1003853592 (15:40807533 T>C), RS1004135443 (15:40806058 G>A), RS1004173019 (15:40811049 G>A), RS1004711344 (15:40812136 G>C)
Disease associations
OMIM: gene MIM:619635 | disease phenotypes: MIM:619849
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| cholestasis, progressive familial intrahepatic, 9 | Strong | Autosomal recessive |
Mondo (1): cholestasis, progressive familial intrahepatic, 9 (MONDO:0030800)
Orphanet (0):
HPO phenotypes
15 total (15 of 15 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000952 | Jaundice |
| HP:0000989 | Pruritus |
| HP:0001406 | Intrahepatic cholestasis |
| HP:0001409 | Portal hypertension |
| HP:0001413 | Micronodular cirrhosis |
| HP:0001744 | Splenomegaly |
| HP:0001945 | Fever |
| HP:0002014 | Diarrhea |
| HP:0002240 | Hepatomegaly |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0006563 | Malformation of the hepatic ductal plate |
| HP:0011463 | Childhood onset |
| HP:0034328 | Fibro-obliterative bile-duct lesion |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008559_8 | Anxiety and stress-related disorders | 7.000000e-07 |
| GCST010725_23 | Malaria | 2.000000e-06 |
| GCST010725_38 | Malaria | 3.000000e-06 |
| GCST010725_80 | Malaria | 7.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010098 | stress-related disorder |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| methacrylaldehyde | affects cotreatment, affects expression, increases expression, increases abundance | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Acrolein | increases expression, increases abundance, affects cotreatment, affects expression | 2 |
| Estradiol | decreases expression | 2 |
| Ozone | increases expression, increases abundance, affects cotreatment, affects expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| alpha-pinene | affects expression, increases abundance, affects cotreatment | 1 |
| beta-lapachone | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| jinfukang | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Air Pollutants | affects cotreatment, affects expression, increases abundance | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Paraoxon | increases expression | 1 |
| Quercetin | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: cholestasis, progressive familial intrahepatic, 9
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): anxiety disorder, cholestasis, progressive familial intrahepatic, 9