FEZF1 Gene (Protein Coding)

FEZ Family Zinc Finger 1

GC07M122301
GIFtS:
39
This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript... See more...

Aliases for FEZF1 Gene

Aliases for FEZF1 Gene

  • FEZ Family Zinc Finger 1 2 3 5
  • Zinc Finger Protein 312B 2 3 4
  • Fez Family Zinc Finger Protein 1 3 4
  • ZNF312B 3 4
  • FEZ 3 4
  • FEZF1 5
  • HH22 3

External Ids for FEZF1 Gene

Previous HGNC Symbols for FEZF1 Gene

  • ZNF312B

Previous GeneCards Identifiers for FEZF1 Gene

  • GC07M121729
  • GC07M121941
  • GC07M116304

Summaries for FEZF1 Gene

Entrez Gene Summary for FEZF1 Gene

  • This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

GeneCards Summary for FEZF1 Gene

FEZF1 (FEZ Family Zinc Finger 1) is a Protein Coding gene. Diseases associated with FEZF1 include Hypogonadotropic Hypogonadism 22 With Or Without Anosmia and Kallmann Syndrome. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is FEZF2.

UniProtKB/Swiss-Prot Summary for FEZF1 Gene

  • Transcription repressor. Involved in the axonal projection and proper termination of olfactory sensory neurons (OSN). Plays a role in rostro-caudal patterning of the diencephalon and in prethalamic formation. Expression is required in OSN to cell-autonomously regulate OSN axon projections. Regulates non-cell-autonomously the layer formation of the olfactory bulb development and the interneurons. May be required for correct rostral migration of the interneuron progenitors (By similarity).

Additional gene information for FEZF1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FEZF1 Gene

Genomics for FEZF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for FEZF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH07J122310 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 628.9 +1.4 1449 2 TEAD4 KDM1A POLR2A YY1 SIN3A CTCF ZNF143 RAD21 TAF1 TBP FEZF1 FEZF1-AS1 AASS
GH07J122303 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 25.2 +5.4 5391 5.1 PRDM10 ZNF629 ZNF692 FOXA1 PRDM1 ZIC2 POLR2A PATZ1 SP1 ZNF501 FEZF1-AS1 FEZF1 ENSG00000240499 AASS
GH07J122432 Enhancer 0.2 FANTOM5 3 -121.2 -121227 0.4 CADPS2 FEZF1 HE856241 ENSG00000240499 RNF133
GH07J122327 Enhancer 1.3 VISTA UCNEbase Ensembl ENCODE 0.4 -17.4 -17394 3.6 KDM1A PRDM1 ZSCAN4 EZH2 FOXA2 SIN3A SP1 ENSG00000240499 FEZF1 HE856241 RNF133 CADPS2
GH07J122336 Enhancer 1.1 UCNEbase Ensembl ENCODE dbSUPER 0.3 -25.6 -25646 1.4 POLR2A SMARCA4 EZH2 ENSG00000240499 FEZF1 HE856241 RNF133 CADPS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FEZF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FEZF1

Top Transcription factor binding sites by QIAGEN in the FEZF1 gene promoter:
  • CUTL1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Nkx6-1
  • Pax-4a
  • PPAR-gamma2

Genomic Locations for FEZF1 Gene

Genomic Locations for FEZF1 Gene
chr7:122,300,939-122,311,855
(GRCh38/hg38)
Size:
10,917 bases
Orientation:
Minus strand
chr7:121,941,448-121,950,745
(GRCh37/hg19)
Size:
9,298 bases
Orientation:
Minus strand

Genomic View for FEZF1 Gene

Genes around FEZF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FEZF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FEZF1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FEZF1 Gene

Proteins for FEZF1 Gene

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  • Protein details for FEZF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0PJY2-FEZF1_HUMAN
    Recommended name:
    Fez family zinc finger protein 1
    Protein Accession:
    A0PJY2
    Secondary Accessions:
    • A0PJY3
    • A4D0W3
    • B4DUP9
    • B7ZM98

    Protein attributes for FEZF1 Gene

    Size:
    475 amino acids
    Molecular mass:
    52038 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Triggers oncogenic activity specifically in gastric tumors through activation of KRAS in the ERK signaling pathway.

    Alternative splice isoforms for FEZF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FEZF1 Gene

Protein Expression for FEZF1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FEZF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FEZF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FEZF1 Gene

Domains & Families for FEZF1 Gene

Gene Families for FEZF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for FEZF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FEZF1 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 312B (FEZF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A0PJY2

UniProtKB/Swiss-Prot:

FEZF1_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with FEZF1: view

Function for FEZF1 Gene

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  2. CRISPR
  3. miRNA
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  6. Cell Line

Molecular function for FEZF1 Gene

UniProtKB/Swiss-Prot Function:
Transcription repressor. Involved in the axonal projection and proper termination of olfactory sensory neurons (OSN). Plays a role in rostro-caudal patterning of the diencephalon and in prethalamic formation. Expression is required in OSN to cell-autonomously regulate OSN axon projections. Regulates non-cell-autonomously the layer formation of the olfactory bulb development and the interneurons. May be required for correct rostral migration of the interneuron progenitors (By similarity).

Phenotypes From GWAS Catalog for FEZF1 Gene

Gene Ontology (GO) - Molecular Function for FEZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with FEZF1: view
genes like me logo Genes that share phenotypes with FEZF1: view

Human Phenotype Ontology for FEZF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FEZF1 Gene

MGI Knock Outs for FEZF1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FEZF1

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for FEZF1 Gene

Localization for FEZF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FEZF1 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FEZF1 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FEZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with FEZF1: view

Pathways & Interactions for FEZF1 Gene

PathCards logo

SuperPathways for FEZF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FEZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001764 neuron migration IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0007411 axon guidance IEA --
genes like me logo Genes that share ontologies with FEZF1: view

No data available for Pathways by source and SIGNOR curated interactions for FEZF1 Gene

Drugs & Compounds for FEZF1 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for FEZF1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for FEZF1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FEZF1

Alternative Splicing Database (ASD) splice patterns (SP) for FEZF1 Gene

No ASD Table

Relevant External Links for FEZF1 Gene

GeneLoc Exon Structure for
FEZF1

Expression for FEZF1 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FEZF1 Gene

mRNA expression in normal human tissues for FEZF1 Gene
mRNA expression by BioGPS for FEZF1 GenemRNA expression by GTEx for FEZF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FEZF1 Gene

This gene is overexpressed in Brain - Hypothalamus (x25.3), Testis (x6.2), Brain - Caudate (basal ganglia) (x4.5), and Brain - Amygdala (x4.3).

Protein differential expression in normal tissues from HIPED for FEZF1 Gene

This gene is overexpressed in Liver, secretome (58.7) and Peripheral blood mononuclear cells (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FEZF1 Gene



Protein tissue co-expression partners for FEZF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FEZF1

SOURCE GeneReport for Unigene cluster for FEZF1 Gene:

Hs.553970

mRNA Expression by UniProt/SwissProt for FEZF1 Gene:

A0PJY2-FEZF1_HUMAN
Tissue specificity: Expressed in brain. Little or no expression in other tissues. Overexpressed specifically in gastric cancers. A 2- to 20-fold increase is found in over 50% of gastric cancer tissues.

Evidence on tissue expression from TISSUES for FEZF1 Gene

  • Nervous system(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FEZF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • pharynx
  • pituitary gland
  • skull
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with FEZF1: view

Primer Products

Orthologs for FEZF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FEZF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia FEZF1 30 31
  • 99.65 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia FEZF1 31
  • 93 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia FEZF1 30 31
  • 92.12 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Fezf1 30
  • 90.6 (n)
Mouse
(Mus musculus)
 Mammalia Fezf1 30 17 31
  • 89.96 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia FEZF1 31
  • 88 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves FEZF1 30 31
  • 80.78 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia FEZF1 31
  • 65 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia fezf1 30
  • 74.66 (n)
African clawed frog
(Xenopus laevis)
 Amphibia LOC398172 30
Zebrafish
(Danio rerio)
 Actinopterygii fezf1 30 31
  • 69.51 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta erm 31
  • 35 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea fezf-1 31
  • 70 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 78 (a)
 OneToMany
Species where no ortholog for FEZF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for FEZF1 Gene

ENSEMBL:
Gene Tree for FEZF1 (if available)
TreeFam:
Gene Tree for FEZF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FEZF1: view image

Paralogs for FEZF1 Gene

Paralogs for FEZF1 Gene

(91) SIMAP similar genes for FEZF1 Gene using alignment to 2 proteins:

  • FEZF1_HUMAN
  • C9J0C5_HUMAN
genes like me logo Genes that share paralogs with FEZF1: view

Variants for FEZF1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FEZF1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
713972 Benign: not provided 122,302,075(-) C/T SYNONYMOUS_VARIANT
718873 Likely Benign: not provided 122,303,915(-) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
721996 Likely Benign: not provided 122,304,186(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
723308 Likely Benign: not provided 122,303,885(-) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
725249 Likely Benign: not provided 122,303,823(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for FEZF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FEZF1 Gene

Variant ID Type Subtype PubMed ID
esv3891198 CNV gain 25118596
nsv5931 CNV deletion 18451855

Variation tolerance for FEZF1 Gene

Residual Variation Intolerance Score: 37.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 21.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FEZF1 Gene

Human Gene Mutation Database (HGMD)
FEZF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FEZF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FEZF1 Gene

Disorders for FEZF1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for FEZF1 Gene - From: UniProtKB/Swiss-Prot, LncRNADisease, OMIM, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 22 with or without anosmia
  • hh22
kallmann syndrome
  • hypogonadotropic hypogonadism and anosmia
hypogonadotropic hypogonadism 7 with or without anosmia
  • hh7
pancreatic ductal adenocarcinoma
  • ductal adenocarcinoma of the pancreas
zinc finger protein 1
  • znf1
- elite association - COSMIC cancer census association via MalaCards
Search FEZF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FEZF1_HUMAN
  • Hypogonadotropic hypogonadism 22 with or without anosmia (HH22) [MIM:616030]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269 PubMed:25192046}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FEZF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FEZF1: view

No data available for Genatlas for FEZF1 Gene

Publications for FEZF1 Gene

  1. Mutations in FEZF1 cause Kallmann syndrome. (PMID: 25192046) Kotan LD … Topaloglu AK (American journal of human genetics 2014) 3 4
  2. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PMID: 19401682) Maestrini E … IMGSAC (Molecular psychiatry 2010) 3 41
  3. Human ZNF312b promotes the progression of gastric cancer by transcriptional activation of the K-ras gene. (PMID: 19318583) Song IS … Kim NS (Cancer research 2009) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. FEZF1-AS1 is a key regulator of cell cycle, epithelial-mesenchymal transition and Wnt/β-catenin signaling in nasopharyngeal carcinoma cells. (PMID: 30355645) Cheng Y (Bioscience reports 2019) 3

ExternalLinks

View latest publications for FEZF1 gene in Mastermind

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