Gene Gene information from NCBI Gene database.
Entrez ID 4784
Gene name Nuclear factor I X
Gene symbol NFIX
Synonyms (NCBI Gene)
CTFMALNSMRSHSSNF-I/XNF1-XNF1ASOTOS2
Chromosome 19
Chromosome location 19p13.13
Summary 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.
57
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.
604
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164005 7788 ENSG00000008441
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
462
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Likely pathogenic; Pathogenic rs2013246660, rs2013265950 RCV001257605
RCV001257606
Malan overgrowth syndrome Pathogenic; Likely pathogenic rs760493118, rs2145192570, rs2145192745, rs2145192459, rs2145476207, rs2145190803, rs2145443002, rs2145430763, rs2145459429, rs2145191473, rs1326313565, rs2145191979, rs2145434937, rs2512743361, rs2512745631
View all (46 more)
RCV001384392
RCV001390439
RCV002544267
RCV001785348
RCV001808844
RCV001814612
RCV001814613
RCV001839245
RCV001953916
RCV002002495
RCV002204549
RCV002262177
RCV002272763
RCV002287552
RCV002291097
RCV002291119
RCV002465395
RCV002471663
RCV003041362
RCV003079229
RCV002512470
RCV000191110
RCV002858242
RCV002971000
RCV003008259
RCV003340596
RCV002810023
RCV003128117
RCV003223493
RCV003883146
RCV003326327
RCV003885345
RCV003448762
RCV003801226
RCV003809651
RCV003810388
RCV003990001
RCV004017215
RCV004556949
RCV006257392
RCV004595014
RCV000496183
RCV001263215
RCV000030636
RCV000030646
RCV000030647
RCV000590929
RCV000650505
RCV000677674
RCV001580278
RCV000704861
RCV000760224
RCV000818364
RCV000791914
RCV000810600
RCV001044662
RCV001193079
RCV001193080
RCV001253218
RCV001254040
RCV005057173
RCV001262356
RCV000077780
Marfanoid habitus and intellectual disability Likely pathogenic; Pathogenic rs1555696597, rs1599738398 RCV000850427
RCV000850473
Marshall-Smith syndrome Pathogenic; Likely pathogenic rs760493118, rs2145192570, rs2145432885, rs2145192041, rs2145192745, rs2145442806, rs2145430763, rs2145459429, rs2145191473, rs2145191618, rs2145191979, rs2512746910, rs2512747813, rs2512978311, rs2512965561
View all (42 more)
RCV001384392
RCV001390439
RCV001771788
RCV001775416
RCV002544267
RCV001809054
RCV002034709
RCV001953916
RCV002002495
RCV002250146
RCV002262177
RCV003041362
RCV003079229
RCV002512470
RCV002858242
RCV000194821
RCV000192696
RCV002971000
RCV003008259
RCV003148046
RCV002280877
RCV003883146
RCV003326709
RCV003484527
RCV003801226
RCV003809651
RCV003810388
RCV000503907
RCV003766975
RCV000990161
RCV000030637
RCV000030638
RCV000030639
RCV000030640
RCV000030641
RCV000030642
RCV000030643
RCV000030644
RCV000030645
RCV000677236
RCV002248806
RCV000650505
RCV002508942
RCV000704861
RCV000760224
RCV000761317
RCV000818364
RCV000791914
RCV000810600
RCV000853379
RCV000853419
RCV000990160
RCV000990162
RCV001044662
RCV001072120
RCV001199203
RCV001198775
RCV001706723
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs1555696606 -
Cervical cancer Benign rs8103751 RCV005921738
Ovarian serous cystadenocarcinoma Benign rs8103751 RCV005921740
Sarcoma Benign rs8103751 RCV005921739
Associations from Text MiningDisease 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