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FERD3L Fer3 like bHLH transcription factor [ Homo sapiens (human) ]

Gene ID: 222894, updated on 5-Mar-2024

Summary

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Official Symbol
FERD3Lprovided by HGNC
Official Full Name
Fer3 like bHLH transcription factorprovided by HGNC
Primary source
HGNC:HGNC:16660
See related
Ensembl:ENSG00000146618 MIM:617578; AllianceGenome:HGNC:16660
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PTFB; NATO3; NTWIST; N-TWIST; bHLHa31
Summary
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in developmental process; negative regulation of transcription, DNA-templated; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within cell development; floor plate development; and regulation of neurogenesis. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
mouse all
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Genomic context

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See FERD3L in Genome Data Viewer
Location:
7p21.1
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (19144782..19145421, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (19274718..19275357, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (19184405..19185044, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene histone deacetylase 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:19029605-19030106 Neighboring gene nucleophosmin 1 pseudogene 13 Neighboring gene uncharacterized LOC124901597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:19156549-19157332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:19158406-19159269 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:19183777-19184976 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:19185442-19186090 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:19233822-19234359 Neighboring gene twist family bHLH transcription factor 1 Neighboring gene uncharacterized LOC107986773 Neighboring gene MPRA-validated peak6419 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:19378723-19379386 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:19380845-19381344 Neighboring gene uncharacterized LOC105375179 Neighboring gene MPRA-validated peak6420 silencer

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Rs10230207 genotype confers changes in HDAC9 and TWIST1, but not FERD3L in lymphoblasts from patients with intracranial aneurysm. Lansdell TA, et al. Neurogenetics, 2019 May. PMID 30919159
  2. N-twist, an evolutionarily conserved bHLH protein expressed in the developing CNS, functions as a transcriptional inhibitor. Verzi MP, et al. Dev Biol, 2002 Sep 1. PMID 12217327
  3. Classification and evolutionary analysis of the basic helix-loop-helix gene family in the green anole lizard, Anolis carolinensis. Liu A, et al. Mol Genet Genomics, 2013 Aug. PMID 23756994
  4. Nato3 is an evolutionarily conserved bHLH transcription factor expressed in the CNS of Drosophila and mouse. Segev E, et al. Mech Dev, 2001 Aug. PMID 11472856
  5. Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis. Bunyavanich S, et al. BMC Med Genomics, 2014 Aug 2. PMID 25085501, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. the risk allele Rs10230207 for patients with intracranial aneurysm is not associated with changes in FERD3L gene expression, but is associated with increased HDAC9 and decrease in TWIST1 mRNA expression
    Title: Rs10230207 genotype confers changes in HDAC9 and TWIST1, but not FERD3L in lymphoblasts from patients with intracranial aneurysm.
  2. Identification and genomic structure of Nato3 in fly, mouse and man. Nervous system expression detected in fly and mouse.
    Title: Nato3 is an evolutionarily conserved bHLH transcription factor expressed in the CNS of Drosophila and mouse.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC119861

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
  
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell development IEA
Inferred from Electronic Annotation
more info
  
involved_in developmental process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in floor plate development IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of dopaminergic neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of neurogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
fer3-like protein
Names
basic helix-loop-helix protein N-twist
class A basic helix-loop-helix protein 31
nephew of atonal 3
neuronal twist
pancreas-specific transcription factor b

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_152898.2 → NP_690862.1  fer3-like protein

    See identical proteins and their annotated locations for NP_690862.1

    Status: VALIDATED

    Source sequence(s)
    AF517122
    Consensus CDS
    CCDS5368.1
    UniProtKB/Swiss-Prot
    Q495K0, Q96RJ6
    Related
    ENSP00000275461.3, ENST00000275461.3
    Conserved Domains (1) summary
    cd11415
    Location:94 → 157
    bHLH_TS_FERD3L_NATO3; basic helix-loop-helix (bHLH) domain found in Fer3-like protein (FERD3L) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    19144782..19145421 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    19274718..19275357 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96RJ6.1 GenPept UniProtKB/Swiss-Prot:Q96RJ6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
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