FOXN4 forkhead box N4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FOXN4provided by HGNC
Official Full Name: forkhead box N4provided by HGNC
Primary source: HGNC:HGNC:21399
See related: Ensembl:ENSG00000139445 MIM:609429; AllianceGenome:HGNC:21399
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
Summary: Members of the winged-helix/forkhead family of transcription factors, such as FOXN4, are characterized by a 110-amino acid DNA-binding domain that can fold into a variant of the helix-turn-helix motif consisting of 3 alpha helices flanked by 2 large loops or wings. These transcription factors are involved in a variety of biologic processes as key regulators in development and metabolism (Li et al., 2004 [PubMed 15363391]).[supplied by OMIM, Mar 2008]
Expression: Restricted expression toward testis (RPKM 2.5) See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.11

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (109277978..109309284, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (109252960..109284245, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (109715783..109747089, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FOXN4 affects myocardial ischemia-reperfusion injury through HIF-1alpha/MMP2-mediated ferroptosis of cardiomyocytes.
Title: FOXN4 affects myocardial ischemia-reperfusion injury through HIF-1α/MMP2-mediated ferroptosis of cardiomyocytes.

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

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:487170

RH92201 (e-PCR)
- UniSTS:87153

FOXN4_3704 (e-PCR)
- UniSTS:462199

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	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 factor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables chromatin binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in amacrine cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in atrioventricular canal development	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart looping	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of heart contraction	ISS Inferred from Sequence or Structural Similarity more info
involved_in retina layer formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventral spinal cord interneuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventral spinal cord interneuron fate commitment	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: forkhead box protein N4

Names: forkhead/winged helix transcription factor FOXN4

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_213596.3 → NP_998761.2 forkhead box protein N4

See identical proteins and their annotated locations for NP_998761.2

Status: VALIDATED

Source sequence(s)

AA421288, AC012384, AF425596, AK131519, BC146825

Consensus CDS

CCDS9126.2

UniProtKB/Swiss-Prot

Q6ZMR4, Q96NZ0, Q96NZ1

UniProtKB/TrEMBL

A6H901

Related

ENSP00000299162.5, ENST00000299162.10

Conserved Domains (2) summary

pfam00250
Location:193 → 280

Forkhead; Forkhead domain

pfam14650
Location:317 → 397

FAM75; FAM75 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

109277978..109309284 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011537922.3 → XP_011536224.1 forkhead box protein N4 isoform X1

See identical proteins and their annotated locations for XP_011536224.1

UniProtKB/TrEMBL

A6H901

Conserved Domains (2) summary

pfam00250
Location:194 → 281

Forkhead; Forkhead domain

pfam14650
Location:318 → 398

FAM75; FAM75 family
XM_047428311.1 → XP_047284267.1 forkhead box protein N4 isoform X3

UniProtKB/TrEMBL

A6H901
XM_017018818.2 → XP_016874307.1 forkhead box protein N4 isoform X2

UniProtKB/TrEMBL

A6H901
XM_011537923.3 → XP_011536225.1 forkhead box protein N4 isoform X4

Conserved Domains (1) summary

pfam00250
Location:194 → 281

Forkhead; Forkhead domain

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

109252960..109284245 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054371121.1 → XP_054227096.1 forkhead box protein N4 isoform X1

UniProtKB/TrEMBL

A6H901
XM_054371123.1 → XP_054227098.1 forkhead box protein N4 isoform X3

UniProtKB/TrEMBL

A6H901
XM_054371122.1 → XP_054227097.1 forkhead box protein N4 isoform X2

UniProtKB/TrEMBL

A6H901
XM_054371124.1 → XP_054227099.1 forkhead box protein N4 isoform X4