Gene Gene information from NCBI Gene database.
Entrez ID 57169
Gene name Zinc finger NFX1-type containing 1
Gene symbol ZNFX1
Synonyms (NCBI Gene)
IMD91
Chromosome 20
Chromosome location 20q13.13
miRNA miRNA information provided by mirtarbase database.
1012
miRTarBase ID miRNA Experiments Reference
MIRT000256 hsa-miR-17-5p Luciferase reporter assay 19734348
MIRT000256 hsa-miR-17-5p CLASH 23622248
MIRT000256 hsa-miR-17-5p CLASH 23622248
MIRT050625 hsa-miR-20a-5p CLASH 23622248
MIRT050625 hsa-miR-20a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0002218 Process Activation of innate immune response IEA
GO:0002218 Process Activation of innate immune response ISS
GO:0002376 Process Immune system process IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618931 29271 ENSG00000124201
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P2E3
Protein name NFX1-type zinc finger-containing protein 1
Protein function RNA-binding protein that initiates the antiviral response and is required to restrict the replication of RNA viruses (PubMed:33872655). Acts as a double-stranded RNA (dsRNA) sensor that recognizes viral RNA and then interacts with MAVS to initia
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13086 AAA_11 597 1040 AAA domain Domain
PF13087 AAA_12 1051 1235 AAA domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10718198, ECO:0000269|PubMed:33872655}.
Sequence
MEERRPHLDARPRNSHTNHRGPVDGELPPRARNQANNPPANALRGGASHPGRHPRANNHP
AAYWQREERFRAMGRNPHQGRRNQEGHASDEARDQRHDQENDTRWRNGNQDCRNRRPPWS
NDNFQQWRTPHQKPTEQPQQAKKLGYKFLESLLQKDPSEVVITLATSLGLKELLSHSSMK
SNFLELICQVLRKACSSKMDRQSVLHVLGILKNSKFLKVCLPAYVVGMITEPIPDIRNQY
PEHISNIISLLQDLVSVFPASSVQETSMLVSLLPTSLNALRASGVDIEEETEKNLEKVQT
IIEHLQEKRREGTLRVDTYTLVQPEAEDHVESYRTMPIYPTYNEVHLDERPFLRPNIISG
KYDSTAIYLDTHFRLLREDFVRPLREGILELLQSFEDQGLRKRKFDDIRIYFDTRIITPM
CSSSGIVYKVQFDTKPLKFVRWQNSKRLLYGSLVCMSKDNFETFLFATVSNREQEDLCRG
IVQLCFNEQSQQLLAEVQPSDSFLMVETTAYFEAYRHVLEGLQEVQEEDVPFQRNIVECN
SHVKEPRYLLMGGRYDFTPLIENPSATGEFLRNVEGLRHPRINVLDPGQWPSKEALKLDD
SQMEALQFALTRELAIIQGPPGTGKTYVGLKIVQALLTNESVWQISLQKFPILVVCYTNH
ALDQFLEGIYNCQKTSIVRVGGRSNSEILKQFTLRELRNKREFRRNLPMHLRRAYMSIMT
QMKESEQELHEGAKTLECTMRGVLREQYLQKYISPQHWESLMNGPVQDSEWICFQHWKHS
MMLEWLGLGVGSFTQSVSPAGPENTAQAEGDEEEEGEEESSLIEIAEEADLIQADRVIEE
EEVVRPQRRKKEESGADQELAKMLLAMRLDHCGTGTAAGQEQATGEWQTQRNQKKKMKKR
VKDELRKLNTMTAAEANEIEDVWQLDLSSRWQLYRLWLQLYQADTRRKILSYERQYRTSA
ERMAELRLQEDLHILKDAQVVGMTTTGAAKYRQILQKVEPRIVIVEEAAEVLEAHTIATL
SKACQHLILIGDHQQLRPSA
NVYDLAKNFNLEVSLFERLVKVNIPFVRLNYQHRMCPEIA
RLLTPHIYQDLENHPSVLKYEKIKGVSSNLFFVEHNFPEQEIQEGKSHQNQHEAHFVVEL
CKYFLCQEYLPSQITILTTYTGQLFCLRKLMPAKTFAGVRVHVVDKYQGEENDIILLSLV
RSNQEGKVGFLQISNRICVALSRAKKGMYCIGNMQ
MLAKVPLWSKIIHTLRENNQIGPML
RLCCQNHPETHTLVSKASDFQKVPEGGCSLPCEFRLGCGHVCTRACHPYDSSHKEFQCMK
PCQKVICQEGHRCPLVCFQECQPCQVKVPKTIPRCGHEQMVPCSVPESDFCCQEPCSKSL
RCGHRCSHPCGEDCVQLCSEMVTIKLKCGHSQPVKCGHVEGLLYGGLLVKCTTKCGTILD
CGHPCPGSCHSCFEGRFHERCQQPCKRLLICSHKCQEPCIGECPPCQRTCQNRCVHSQCK
KKCGELCSPCVEPCVWRCQHYQCTKLCSEPCNRPPCYVPCTKLLVCGHPCIGLCGEPCPK
KCRICHMDEVTQIFFGFEDEPDARFVQLEDCSHIFEVQALDRYMNEQKDDEVAIRLKVCP
ICQVPIRKNLRYGTSIKQRLEEIEIIKEKIQGSAGEIATSQERLKALLERKSLLHQLLPE
DFLMLKEKLAQKNLSVKDLGLVENYISFYDHLASLWDSLKKMHVLEEKRVRTRLEQVHEW
LAKKRLSFTSQELSDLRSEIQRLTYLVNLLTRYKIAEKKVKDSIAVEVYSVQNILEKTCK
FTQEDEQLVQEKMEALKATLPCSGLGISEEERVQIVSAIGYPRGHWFKCRNGHIYVIGDC
GGAMERGTCPDCKEVIGGTNHTLERSNQLASEMDGAQHAAWSDTANNLMNFEEIQGMM
Sequence length 1918
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  RIG-I-like receptor signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Immunodeficiency 91 and hyperinflammation Pathogenic rs775817125, rs2146731397, rs2146742427, rs2146732308, rs2146741441, rs1981392635 RCV001789742
RCV001789743
RCV001789744
RCV001789745
RCV001789746
RCV001789747
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ZNFX1-related disorder Likely pathogenic rs2516765924 RCV004552786
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Arthritis Rheumatoid Associate 31736958, 32744323
★☆☆☆☆
Found in Text Mining only
Asthma Associate 36689923
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 30841471
★☆☆☆☆
Found in Text Mining only
Cryopyrin Associated Periodic Syndromes Associate 33872655
★☆☆☆☆
Found in Text Mining only
Holoprosencephaly recurrent infections and monocytosis Associate 33876776
★☆☆☆☆
Found in Text Mining only
Immunologic Deficiency Syndromes Associate 33872655, 33876776
★☆☆☆☆
Found in Text Mining only
Inflammation Associate 30817573
★☆☆☆☆
Found in Text Mining only
Invasive Pneumococcal Disease Recurrent Isolated 2 Associate 33876776
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 34072570, 35184675
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 30841471
★☆☆☆☆
Found in Text Mining only