FERD3L (Fer3 like bHLH transcription factor)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
222894
Gene name Gene Name - the full gene name approved by the HGNC.
Fer3 like bHLH transcription factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FERD3L
Synonyms (NCBI Gene) Gene synonyms aliases
N-TWIST, NATO3, NTWIST, PTFB, bHLHa31
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p21.1
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT994712 hsa-miR-329 CLIP-seq
MIRT994713 hsa-miR-362-3p CLIP-seq
MIRT994714 hsa-miR-642b CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617578 16660 ENSG00000146618
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96RJ6
Protein name Fer3-like protein (Basic helix-loop-helix protein N-twist) (Class A basic helix-loop-helix protein 31) (bHLHa31) (Nephew of atonal 3) (Neuronal twist)
Protein function Transcription factor that binds to the E-box and functions as inhibitor of transcription. DNA binding requires dimerization with an E protein. Inhibits transcription activation by ASCL1/MASH1 by sequestering E proteins (By similarity). {ECO:0000
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 102 → 154 Helix-loop-helix DNA-binding domain Domain
Sequence 
MAAYPESCVDTTVLDFVADLSLASPRRPLLCDFAPGVSLGDPALALREGRPRRMARFEEG
DPEEEECEVDQGDGEEEEEEERGRGVSLLGRPKRKRVITYAQRQAANIRERKRMFNLNEA
FDQLRRKVPTFAYEKRLSRIETLRLAIVYISFMTELLESCEKKESG
Sequence length 166
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)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (5)
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
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis N/A N/A GWAS
Borderline personality disorder Borderline personality disorder N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Intracranial Aneurysm Intracranial aneurysm N/A N/A GWAS
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Triple Negative Breast Neoplasms Associate 30786922