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

Summary

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

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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 EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:484139

NoName (e-PCR)
- UniSTS:481459

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)

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