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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
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
Intellectual disability Likely pathogenic; Pathogenic rs2013246660, rs2013265950 RCV001257605
RCV001257606
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (58 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Marfanoid habitus and intellectual disability Likely pathogenic; Pathogenic rs1555696597, rs1599738398 RCV000850427
RCV000850473
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (53 more)
★★★★★
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
19P13.3 MICRODUPLICATION SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
19p13.3 microduplication syndrome 19p13.3 microduplication syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30418046
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 27430330, 31771065
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism HPO_DG
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect HPO_DG
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 22925353, 28115744
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 22925353
★★☆☆☆
Found in Text Mining + Unknown/Other Associations