Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4784
Gene name Gene Name - the full gene name approved by the HGNC.
Nuclear factor I X
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NFIX
Synonyms (NCBI Gene) Gene synonyms aliases
CTF, MALNS, MRSHSS, NF-I/X, NF1-X, NF1A, SOTOS2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MALNS, MRSHSS
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.13
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5`-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs387907253 C>T Pathogenic Stop gained, coding sequence variant
rs387907254 T>C Pathogenic Coding sequence variant, missense variant
rs387907255 G>C Pathogenic Coding sequence variant, missense variant
rs398122869 TC>- Pathogenic Coding sequence variant, frameshift variant, intron variant
rs398122870 ->T Pathogenic Coding sequence variant, frameshift variant, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004316 hsa-miR-223-3p Luciferase reporter assay 19850724
MIRT023216 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT045644 hsa-miR-149-5p CLASH 23622248
MIRT043206 hsa-miR-324-5p CLASH 23622248
MIRT610735 hsa-miR-6845-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 19706729
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
164005 7788 ENSG00000008441
Protein
UniProt ID Q14938
Protein name Nuclear factor 1 X-type (NF1-X) (Nuclear factor 1/X) (CCAAT-box-binding transcription factor) (CTF) (Nuclear factor I/X) (NF-I/X) (NFI-X) (TGGCA-binding protein)
Protein function Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replicatio
PDB 7QQD , 7QQE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10524 NfI_DNAbd_pre-N 7 46 Nuclear factor I protein pre-N-terminus Family
PF03165 MH1 68 172 MH1 domain Domain
PF00859 CTF_NFI 213 502 CTF/NF-I family transcription modulation region Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:20673863}.
Sequence
Sequence length 502
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
29059683
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Bipolar Disorder Bipolar Disorder GWAS
Dementia Dementia GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alcohol Related Disorders Associate 33034087
Bipolar Disorder Associate 28115744
Bone Diseases Metabolic Associate 20673863
Capillary Malformation Arteriovenous Malformation Associate 20673863
Carcinogenesis Associate 28800311
Carcinoma Embryonal Associate 26509926
Carcinoma Non Small Cell Lung Associate 34132359, 34394080
Carcinoma Squamous Cell Associate 36060149
Cartilage Diseases Associate 35791460
Cognition Disorders Associate 33034087