UTP4
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Also known as NAICFLJ14728KIAA1988TEX292CIRHIN
Summary
UTP4 (UTP4 small subunit processome component, HGNC:1983) is a protein-coding gene on chromosome 16q22.1, encoding U3 small nucleolar RNA-associated protein 4 homolog (Q969X6). Ribosome biogenesis factor. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).
This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 84916 — RefSeq curated summary.
At a glance
- Gene–disease (curated): hereditary North American Indian childhood cirrhosis (Supportive, GenCC) — +1 more curated relationship
- GWAS associations: 3
- Clinical variants (ClinVar): 177 total
- Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_032830
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1983 |
| Approved symbol | UTP4 |
| Name | UTP4 small subunit processome component |
| Location | 16q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN |
| Ensembl gene | ENSG00000141076 |
| Ensembl biotype | protein_coding |
| OMIM | 607456 |
| Entrez | 84916 |
Gene structure
Transcript identifiers
Ensembl transcripts: 40 — 34 protein_coding, 3 retained_intron, 3 protein_coding_CDS_not_defined
ENST00000314423, ENST00000352319, ENST00000562237, ENST00000563094, ENST00000563299, ENST00000564408, ENST00000566227, ENST00000567015, ENST00000567235, ENST00000567287, ENST00000567460, ENST00000567500, ENST00000568448, ENST00000569014, ENST00000569615, ENST00000569800, ENST00000861702, ENST00000861703, ENST00000861704, ENST00000861705, ENST00000861706, ENST00000861707, ENST00000916296, ENST00000916297, ENST00000916298, ENST00000916299, ENST00000916300, ENST00000916301, ENST00000916302, ENST00000916303, ENST00000916304, ENST00000916305, ENST00000916306, ENST00000916307, ENST00000960037, ENST00000960038, ENST00000960039, ENST00000960040, ENST00000960041, ENST00000960042
RefSeq mRNA: 2 — MANE Select: NM_032830
NM_001318391, NM_032830
CCDS: CCDS10872
Canonical transcript exons
ENST00000314423 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000946481 | 69150813 | 69150904 |
| ENSE00000946482 | 69153584 | 69153680 |
| ENSE00000946483 | 69154393 | 69154457 |
| ENSE00000946484 | 69155871 | 69155993 |
| ENSE00000946485 | 69157084 | 69157240 |
| ENSE00001203664 | 69167075 | 69167185 |
| ENSE00001203731 | 69133458 | 69133618 |
| ENSE00001252649 | 69165341 | 69165526 |
| ENSE00001647974 | 69168821 | 69169021 |
| ENSE00001652768 | 69132649 | 69132689 |
| ENSE00002444457 | 69163083 | 69163178 |
| ENSE00002457091 | 69160356 | 69160462 |
| ENSE00002707694 | 69137801 | 69137885 |
| ENSE00003468899 | 69139825 | 69139914 |
| ENSE00003501950 | 69136696 | 69136887 |
| ENSE00003678127 | 69150537 | 69150708 |
| ENSE00003784506 | 69143178 | 69143389 |
Expression profiles
Bgee: expression breadth ubiquitous, 142 present calls, max score 95.78.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.7468 / max 243.7578, expressed in 1804 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154798 | 20.4592 | 1804 |
| 154803 | 0.1328 | 32 |
| 154799 | 0.0700 | 11 |
| 154804 | 0.0469 | 16 |
| 154802 | 0.0167 | 4 |
| 154800 | 0.0123 | 4 |
| 154801 | 0.0088 | 4 |
Top tissues by expression
142 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 95.78 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.10 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 94.07 | gold quality |
| muscle of leg | UBERON:0001383 | 93.23 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 93.21 | gold quality |
| right testis | UBERON:0004534 | 93.16 | gold quality |
| testis | UBERON:0000473 | 92.81 | gold quality |
| left testis | UBERON:0004533 | 92.77 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 92.73 | gold quality |
| kidney | UBERON:0002113 | 92.67 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.36 | gold quality |
| muscle tissue | UBERON:0002385 | 92.02 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.01 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.92 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.90 | gold quality |
| cortex of kidney | UBERON:0001225 | 91.81 | gold quality |
| pancreas | UBERON:0001264 | 90.79 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 90.62 | gold quality |
| tonsil | UBERON:0002372 | 90.45 | gold quality |
| cortical plate | UBERON:0005343 | 90.40 | gold quality |
| body of pancreas | UBERON:0001150 | 90.37 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 90.32 | gold quality |
| metanephros cortex | UBERON:0010533 | 90.05 | gold quality |
| prefrontal cortex | UBERON:0000451 | 89.92 | gold quality |
| endometrium | UBERON:0001295 | 89.83 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.54 | gold quality |
| esophagus mucosa | UBERON:0002469 | 89.38 | gold quality |
| frontal cortex | UBERON:0001870 | 89.37 | gold quality |
| left uterine tube | UBERON:0001303 | 89.30 | gold quality |
| omental fat pad | UBERON:0010414 | 89.30 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 4)
- A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis (PMID:12417987)
- Cirhin is a nucleolar protein and the R565W mutation, for which all North American Indian childhood cirrhosis patients are homozygous, has no effect on subcellular localization. (PMID:16225863)
- Cirhin is a transcriptional regulatory factor of this NF-kappaB sequence and could be a participant in the regulation of other genes with NF-kappaB responsive elements. (PMID:19732766)
- Results show that CIRH1A was highly expressed in carcinoma samples and colorectal cancer cells and suggest that CIRH1A plays a critical role in the proliferation, cell cycle distribution, and apoptosis of human malignant colorectal cells. (PMID:28350096)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | utp4 | ENSDARG00000017675 |
| mus_musculus | Utp4 | ENSMUSG00000041438 |
| rattus_norvegicus | Utp4 | ENSRNOG00000020333 |
| drosophila_melanogaster | l(3)72Dn | FBGN0263605 |
Paralogs (1): SKIC8 (ENSG00000140395)
Protein
Protein identifiers
U3 small nucleolar RNA-associated protein 4 homolog — Q969X6 (reviewed: Q969X6)
Alternative names: Cirhin, UTP4 small subunit processome component
All UniProt accessions (8): Q969X6, H3BPD7, H3BRM8, H3BSH7, I3L4T9, J3KSE6, J3KSI1, J3KTR0
UniProt curated annotations — full annotation on UniProt →
Function. Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted d Involved in SSU pre-rRNA processing at sites A’, A0, 1 and 2b. Required for optimal pre-ribosomal RNA transcription by RNA polymerase. May be a transcriptional regulator. (Microbial infection) Acts as a positive regulator of HIVEP1 which specifically binds to the DNA sequence 5’-GGGACTTTCC-3’ found in enhancer elements of numerous viral promoters such as those of HIV-1, SV40, or CMV.
Subunit / interactions. Interacts with HIVEP1 Interacts with NOL11. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3. May be a component of the proposed t-UTP subcomplex of the ribosomal small subunit (SSU) processome containing at least UTP4, WDR43, HEATR1, UTP15, WDR75.
Subcellular location. Nucleus. Nucleolus. Chromosome.
Post-translational modifications. May be phosphorylated during mitosis; may control the association of this protein with WRD43 and UTP15.
Miscellaneous. May be due to intron retention.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q969X6-1 | 1 | yes |
| Q969X6-2 | 2 | |
| Q969X6-3 | 3 |
RefSeq proteins (2): NP_001305320, NP_116219* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR046351 | UTP4 | Family |
Pfam: PF00400
UniProt features (27 total): repeat 14, sequence conflict 6, splice variant 3, sequence variant 2, chain 1, cross-link 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7MQA | ELECTRON MICROSCOPY | 2.7 |
| 7MQ8 | ELECTRON MICROSCOPY | 3.6 |
| 7MQ9 | ELECTRON MICROSCOPY | 3.87 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q969X6-F1 | 91.28 | 0.78 |
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 (1): 321
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6790901 | rRNA modification in the nucleus and cytosol |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
MSigDB gene sets: 163 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GOBP_RIBOSOME_BIOGENESIS, chr16q22, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_MATURATION_OF_SSU_RRNA, YY1_Q6, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, WEI_MYCN_TARGETS_WITH_E_BOX, WANG_LMO4_TARGETS_DN, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_TRANS, AACTTT_UNKNOWN, BROWN_MYELOID_CELL_DEVELOPMENT_DN, NADLER_HYPERGLYCEMIA_AT_OBESITY
GO Biological Process (6): maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462), regulation of DNA-templated transcription (GO:0006355), maturation of SSU-rRNA (GO:0030490), ribosomal small subunit biogenesis (GO:0042274), rRNA processing (GO:0006364), ribosome biogenesis (GO:0042254)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (8): fibrillar center (GO:0001650), nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730), 90S preribosome (GO:0030686), small-subunit processome (GO:0032040), t-UTP complex (GO:0034455), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| rRNA processing in the nucleus and cytosol | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nucleolus | 3 |
| ribonucleoprotein complex biogenesis | 2 |
| ribosome biogenesis | 2 |
| cellular anatomical structure | 2 |
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| preribosome | 2 |
| t-UTP complex | 2 |
| nuclear protein-containing complex | 2 |
| maturation of SSU-rRNA | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| rRNA processing | 1 |
| ribosomal small subunit biogenesis | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2045 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UTP4 | WDR43 | Q15061 | 984 |
| UTP4 | UTP15 | Q8TED0 | 981 |
| UTP4 | HEATR1 | Q9H583 | 966 |
| UTP4 | WDR75 | Q8IWA0 | 919 |
| UTP4 | NOL11 | Q9H8H0 | 889 |
| UTP4 | PWP2 | Q15269 | 852 |
| UTP4 | UTP18 | Q9Y5J1 | 846 |
| UTP4 | SNTB2 | Q13425 | 825 |
| UTP4 | WDR36 | Q8NI36 | 813 |
| UTP4 | BMS1 | Q14692 | 765 |
| UTP4 | UTP6 | Q9NYH9 | 743 |
| UTP4 | NOP58 | Q9Y2X3 | 743 |
| UTP4 | NOP56 | O00567 | 742 |
| UTP4 | WDR3 | Q9UNX4 | 737 |
| UTP4 | EMG1 | Q92979 | 691 |
IntAct
105 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FOS | JUN | psi-mi:“MI:0914”(association) | 0.980 |
| UTP4 | WDR43 | psi-mi:“MI:0407”(direct interaction) | 0.860 |
| UTP4 | WDR43 | psi-mi:“MI:0914”(association) | 0.860 |
| UTP4 | NOL11 | psi-mi:“MI:0915”(physical association) | 0.820 |
| UTP4 | UTP15 | psi-mi:“MI:0407”(direct interaction) | 0.810 |
| KBTBD7 | METTL15 | psi-mi:“MI:0914”(association) | 0.730 |
| C1D | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.640 |
| EXOSC5 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.640 |
| NOL7 | WDR43 | psi-mi:“MI:0914”(association) | 0.640 |
| GFPT2 | GFPT1 | psi-mi:“MI:0914”(association) | 0.620 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| HAVCR2 | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| VASP | GTPBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| NECAB1 | CCDC6 | psi-mi:“MI:0914”(association) | 0.530 |
| NOL11 | WDR43 | psi-mi:“MI:0914”(association) | 0.530 |
| UTP4 | ANKRD28 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXL19 | MED19 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| NOL7 | IPO5 | psi-mi:“MI:0914”(association) | 0.530 |
| EXOSC4 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.530 |
| EVL | VASP | psi-mi:“MI:0914”(association) | 0.530 |
| MPHOSPH6 | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.530 |
| EGFL8 | MPO | psi-mi:“MI:0914”(association) | 0.530 |
| EVA1C | STK25 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (227): CIRH1A (Affinity Capture-RNA), CIRH1A (Affinity Capture-MS), CIRH1A (Affinity Capture-MS), CIRH1A (Affinity Capture-MS), CIRH1A (Affinity Capture-MS), CIRH1A (Affinity Capture-MS), CIRH1A (Affinity Capture-MS), CIRH1A (Affinity Capture-MS), CIRH1A (Affinity Capture-MS), CIRH1A (Affinity Capture-MS), WDR43 (Co-fractionation), CIRH1A (Reconstituted Complex), CIRH1A (Affinity Capture-MS), CIRH1A (Affinity Capture-MS), CIRH1A (Affinity Capture-MS)
ESM2 similar proteins: A0A0R4IC37, A0JN52, A1A4K3, E9PY46, O49552, P0CR22, P0CR23, P0DKL4, P0DKL6, P33194, P59015, Q15269, Q15393, Q16531, Q1LVE8, Q21554, Q3U1J4, Q3V3N7, Q4PGM6, Q4WLI5, Q52E49, Q5B1X8, Q5R649, Q5RBI5, Q5RFQ3, Q6AX60, Q6E7D1, Q6L4S0, Q6P6Z0, Q6QNU4, Q7RYR4, Q805F9, Q811G0, Q8BU03, Q8NFJ9, Q8R2N2, Q921M3, Q93VQ0, Q969X6, Q96RY7
Diamond homologs: Q8R2N2, Q969X6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| UTP4 | “form complex” | “UTP-A complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 136 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 |
|---|---|---|---|
| Nuclear RNA decay | 5 | 17.0× | 2e-03 |
| rRNA modification in the nucleus and cytosol | 7 | 14.4× | 1e-04 |
| Major pathway of rRNA processing in the nucleolus and cytosol | 12 | 8.1× | 1e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal large subunit biogenesis | 5 | 18.5× | 2e-03 |
| ribosomal small subunit biogenesis | 8 | 15.2× | 4e-05 |
| rRNA processing | 8 | 9.4× | 9e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
177 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 72 |
| Likely benign | 58 |
| Benign | 13 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3057 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:69132689:GGT:G | donor_loss | 1.0000 |
| 16:69132690:G:T | donor_loss | 1.0000 |
| 16:69132691:T:G | donor_loss | 1.0000 |
| 16:69133615:GAAA:G | donor_gain | 1.0000 |
| 16:69133616:AAAGT:A | donor_loss | 1.0000 |
| 16:69133617:AAGTA:A | donor_loss | 1.0000 |
| 16:69133618:AGTA:A | donor_loss | 1.0000 |
| 16:69133619:G:GG | donor_gain | 1.0000 |
| 16:69133619:G:T | donor_loss | 1.0000 |
| 16:69133620:TAA:T | donor_loss | 1.0000 |
| 16:69136888:GTTA:G | donor_gain | 1.0000 |
| 16:69136892:G:GG | donor_gain | 1.0000 |
| 16:69137799:A:AT | acceptor_loss | 1.0000 |
| 16:69137799:AGGTT:A | acceptor_gain | 1.0000 |
| 16:69137800:GGTT:G | acceptor_gain | 1.0000 |
| 16:69137800:GGTTG:G | acceptor_gain | 1.0000 |
| 16:69137881:GAAAA:G | donor_gain | 1.0000 |
| 16:69137886:G:GG | donor_gain | 1.0000 |
| 16:69143387:GAC:G | donor_gain | 1.0000 |
| 16:69143390:G:GG | donor_gain | 1.0000 |
| 16:69150535:AG:A | acceptor_loss | 1.0000 |
| 16:69150707:AG:A | donor_loss | 1.0000 |
| 16:69150708:GG:G | donor_loss | 1.0000 |
| 16:69150709:GT:G | donor_loss | 1.0000 |
| 16:69150710:T:G | donor_loss | 1.0000 |
| 16:69150802:T:TA | acceptor_gain | 1.0000 |
| 16:69150810:CAGGC:C | acceptor_loss | 1.0000 |
| 16:69150811:A:AG | acceptor_gain | 1.0000 |
| 16:69150811:AGG:A | acceptor_loss | 1.0000 |
| 16:69150812:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
4536 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:69143282:A:C | S211R | 0.998 |
| 16:69143284:T:A | S211R | 0.998 |
| 16:69143284:T:G | S211R | 0.998 |
| 16:69150627:T:A | W277R | 0.998 |
| 16:69150627:T:C | W277R | 0.998 |
| 16:69163122:G:C | A531P | 0.998 |
| 16:69165383:A:C | S564R | 0.998 |
| 16:69165385:C:A | S564R | 0.998 |
| 16:69165385:C:G | S564R | 0.998 |
| 16:69165492:A:T | D600V | 0.998 |
| 16:69168926:T:C | F684L | 0.998 |
| 16:69168928:T:A | F684L | 0.998 |
| 16:69168928:T:G | F684L | 0.998 |
| 16:69163153:T:C | L541P | 0.997 |
| 16:69165419:T:A | W576R | 0.997 |
| 16:69165419:T:C | W576R | 0.997 |
| 16:69136738:T:A | W68R | 0.996 |
| 16:69136738:T:C | W68R | 0.996 |
| 16:69160388:A:C | S493R | 0.996 |
| 16:69160390:T:A | S493R | 0.996 |
| 16:69160390:T:G | S493R | 0.996 |
| 16:69165380:T:A | W563R | 0.996 |
| 16:69165380:T:C | W563R | 0.996 |
| 16:69168873:G:C | R666P | 0.996 |
| 16:69133563:G:C | R35P | 0.995 |
| 16:69136760:T:C | F75S | 0.995 |
| 16:69155892:A:C | S396R | 0.995 |
| 16:69155894:C:A | S396R | 0.995 |
| 16:69155894:C:G | S396R | 0.995 |
| 16:69133554:C:A | A32D | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000047059 (16:69145820 A>C), RS1000090717 (16:69164030 G>A,C), RS1000136796 (16:69141106 A>G), RS1000307099 (16:69135385 A>C,G), RS1000320556 (16:69158066 T>C), RS1000388695 (16:69158283 C>G,T), RS1000395012 (16:69165724 G>A), RS1000438501 (16:69152697 T>G), RS1000537458 (16:69130925 T>C), RS1000574010 (16:69147467 T>A,C), RS1000613921 (16:69144979 T>C), RS1000796672 (16:69142662 C>T), RS1000859960 (16:69167842 C>A,T), RS1000890723 (16:69163023 A>G), RS1000915406 (16:69134408 G>C)
Disease associations
OMIM: gene MIM:607456 | disease phenotypes: MIM:604901
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| hereditary North American Indian childhood cirrhosis | Supportive | Autosomal recessive |
| cirrhosis, familial | Disputed Evidence | Autosomal recessive |
Mondo (2): hereditary North American Indian childhood cirrhosis (MONDO:0011497), cirrhosis, familial (MONDO:0007329)
Orphanet (1): Hereditary North American Indian childhood cirrhosis (Orphanet:168583)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005951_13 | Body mass index | 5.000000e-11 |
| GCST007006_16 | Logical memory (delayed recall) in normal cognition | 7.000000e-07 |
| GCST010703_183 | Brain morphology (MOSTest) | 5.000000e-11 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0004874 | memory performance |
| EFO:0004346 | neuroimaging measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C566123 | Cirrhosis, Familial (supp.) | |
| C565737 | North American Indian Childhood Cirrhosis (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects expression | 2 |
| deoxynivalenol | increases expression | 2 |
| Valproic Acid | decreases methylation, affects expression | 2 |
| Cyclosporine | increases expression | 2 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| nivalenol | increases expression | 1 |
| 15-acetyldeoxynivalenol | increases expression | 1 |
| 4-phenylbutyric acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| abrine | increases expression | 1 |
| LDN 193189 | decreases expression, affects cotreatment | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Estradiol | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Silicon Dioxide | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
Clinical trials (associated diseases)
2 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02595710 | Not specified | COMPLETED | Bartonella in Liver Transplant Patients |
| NCT05740358 | Not specified | ACTIVE_NOT_RECRUITING | Liver Cirrhosis Network Cohort Study |
Related Atlas pages
- Associated diseases: cirrhosis, familial, hereditary North American Indian childhood cirrhosis
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cirrhosis, familial, hereditary North American Indian childhood cirrhosis