FEZF2 FEZ family zinc finger 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FEZF2provided by HGNC
Official Full Name: FEZ family zinc finger 2provided by HGNC
Primary source: HGNC:HGNC:13506
See related: Ensembl:ENSG00000153266 MIM:607414; AllianceGenome:HGNC:13506
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: FEZ; TOF; FEZL; FKSG36; ZFP312; ZNF312
Summary: Predicted to enable several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Predicted to be involved in regulation of gene expression. Predicted to act upstream of or within several processes, including negative regulation of transcription by RNA polymerase II; nervous system development; and regulation of neuron differentiation. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward brain (RPKM 4.1) See more
Orthologs: mouse all
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Genomic context

Location:: 3p14.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (62369681..62373550, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (62413195..62417065, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (62355356..62359225, complement)

Chromosome 3 - NC_000003.12 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 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?

Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.
Title: Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.
Fezf2 expression is downregulated in bladder cancer tissues and cell lines compared to adjacent non-tumor tissues and normal urothelial cells. Overexpression of Fezf2 significantly inhibited the proliferation, growth, migration, and invasion of bladder cancer cells, and attenuated angiogenesis, while knockdown of Fezf2 had the opposite effect.
Title: Loss of Fezf2 promotes malignant progression of bladder cancer by regulating the NF-κB signaling pathway.
Fezf1 and Fezf2 accomplish both independent and redundant functions across diverse tissue and cell types. [Review]
Title: Fez family transcription factors: controlling neurogenesis and cell fate in the developing mammalian nervous system.
FEZF2 expression has a role in cell proliferation and differentiation in adult neural stem cells.
Title: Heterogeneously expressed fezf2 patterns gradient Notch activity in balancing the quiescence, proliferation, and differentiation of adult neural stem cells.
This study reports the differentiation of a hFezf2-YFP human embryonic stem cell reporter line into corticofugal projection neurons.
Title: Directed differentiation of human embryonic stem cells into corticofugal neurons uncovers heterogeneous Fezf2-expressing subpopulations.
overexpression of EZH2 was frequently detected in NPC tumors. Thus, we have identified FEZF2 as a novel 3p14.2 TSG frequently inactivated by promoter methylation in NPC, which functions as a repressor downregulating multiple oncogene expression
Title: FEZF2, a novel 3p14 tumor suppressor gene, represses oncogene EZH2 and MDM2 expression and is frequently methylated in nasopharyngeal carcinoma.
the feasibility of employing genomic SELEX to identify vertebrate transcription factor binding sites and target genes and reveal Fezf2 as a transcription activator and a candidate for evaluation in human microcephaly.
Title: Genomic selection identifies vertebrate transcription factor Fezf2 binding sites and target genes.
ZNF312 and other brain-layer biomarkers have area dependent expressions in the human fetal cortex.
Title: Area dependent expression of ZNF312 in human fetal cerebral cortex.

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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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of FEZ family zinc finger 2 (FEZF2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_15281-15282:1013612096:1 (e-PCR)
- UniSTS:267800

GDB:1318551 (e-PCR)
- UniSTS:18236

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in axonal fasciculation	IEA Inferred from Electronic Annotation more info
involved_in cell dedifferentiation	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex GABAergic interneuron migration	IEA Inferred from Electronic Annotation more info
involved_in commitment of neuronal cell to specific neuron type in forebrain	IEA Inferred from Electronic Annotation more info
involved_in dendrite development	IEA Inferred from Electronic Annotation more info
involved_in dentate gyrus development	IEA Inferred from Electronic Annotation more info
involved_in forebrain anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in neuron fate determination	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of axon guidance	IEA Inferred from Electronic Annotation more info
involved_in regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of neurogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: fez family zinc finger protein 2

Names: forebrain embryonic zinc finger-like protein 2; testis tissue sperm-binding protein Li 80P; too few; zinc finger protein 312

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_018008.4 → NP_060478.3 fez family zinc finger protein 2

See identical proteins and their annotated locations for NP_060478.3

Status: VALIDATED

Source sequence(s)

AC092502, BC022464, BM930804, DA492936, DR002892, H28929

Consensus CDS

CCDS2897.1

UniProtKB/Swiss-Prot

A8K349, Q8TBJ5, Q9BZ91, Q9NWB9

UniProtKB/TrEMBL

A0A140VKG3

Related

ENSP00000283268.3, ENST00000283268.8

Conserved Domains (3) summary

COG5048
Location:289 → 395

COG5048; FOG: Zn-finger [General function prediction only]

COG5189
Location:385 → 441

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:279 → 299

ZF_C2H2; C2H2 Zn finger [structural motif]