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
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
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Malan Overgrowth Syndrome malan overgrowth syndrome rs1135401802, rs1555696484, rs387907254, rs387907253, rs387907255, rs1555696641, rs587779381, rs1555696597, rs797045056, rs1555696603, rs1599737421 N/A
Marshall-Smith Syndrome marshall-smith syndrome rs398122873, rs1599862139, rs398122874, rs1555705733, rs1599738349, rs398122875, rs1599844887, rs398122876, rs1555696625, rs2018058219, rs1555696499, rs387907253, rs398122869, rs398122870, rs797045738
View all (6 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
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