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FEZF1 Gene(Protein Coding)

FEZ Family Zinc Finger 1

GCID:
GC07M122301
GIFtS:
42
Genes Participants
UDN Logo

Aliases for FEZF1 Gene

Aliases for FEZF1 Gene

  • FEZ Family Zinc Finger 1 2 3 5
  • Zinc Finger Protein 312B 2 3 4
  • ZNF312B 3 4
  • FEZ 3 4
  • Fez Family Zinc Finger Protein 1 3
  • 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 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 , fRNAdb sequence ontologies and piRNA Summary for FEZF1 Gene

Genomics for FEZF1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for FEZF1 Gene

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 EPDnew ENCODE 679 +1.0 1045 1.2 CTCF SP1 POLR2A ZNF143 SIN3A CTBP2 EZH2 FEZF1 FEZF1-AS1
GH07J122303 Enhancer 0.9 ENCODE 25.2 +6.0 5972 3.9 FOXA2 SIN3A FEZF1 ZNF2 YY1 GLIS2 SP3 ZNF610 GLIS1 HNF4A FEZF1 FEZF1-AS1
GH07J122432 Enhancer 0.2 FANTOM5 3 -121.2 -121229 0.4 CADPS2 FEZF1 LOC105375481 ENSG00000240499
GH07J122315 Enhancer 0.4 ENCODE 0.7 -3.2 -3238 0 SUZ12 CTBP2 FEZF1 ENSG00000240499
GH07J122316 Enhancer 0.4 ENCODE 0.7 -3.8 -3808 0.2 SUZ12 CTBP2 EZH2 FEZF1 ENSG00000240499
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FEZF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FEZF1 gene promoter:

Genomic Locations for FEZF1 Gene

Genomic Locations for FEZF1 Gene
chr7:122,301,309-122,311,853
(GRCh38/hg38)
Size:
10,545 bases
Orientation:
Minus strand
chr7:121,941,448-121,950,745
(GRCh37/hg19)

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:

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
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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:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA --
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 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

Clone Products

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (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 IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with FEZF1: view

Pathways & Interactions for FEZF1 Gene

SuperPathways for FEZF1 Gene

PathCards logo More details on SuperPathways for FEZF1
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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development 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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  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for FEZF1 Gene

(1) Selected AceView cDNA sequences:
(6) Additional mRNA sequences :
(4) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FEZF1 Gene

FEZ family zinc finger 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

No ASD Table

Relevant External Links for FEZF1 Gene

GeneLoc Exon Structure for
FEZF1
ECgene alternative splicing isoforms 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 CGAP SAGE for FEZF1 Gene

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

NURSA nuclear receptor signaling pathways regulating expression of FEZF1 Gene:

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(4.5)

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 34 33
  • 99.65 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia FEZF1 34
  • 93 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia FEZF1 34 33
  • 92.12 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Fezf1 33
  • 90.6 (n)
mouse
(Mus musculus)
 Mammalia Fezf1 16 34 33
  • 89.96 (n)
oppossum
(Monodelphis domestica)
 Mammalia FEZF1 34
  • 88 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves FEZF1 34 33
  • 80.78 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia FEZF1 34
  • 65 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fezf1 33
  • 74.66 (n)
African clawed frog
(Xenopus laevis)
 Amphibia LOC398172 33
zebrafish
(Danio rerio)
 Actinopterygii fezf1 34 33
  • 69.51 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta erm 34
  • 35 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea fezf-1 34
  • 70 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 78 (a)
 OneToMany
Species where no ortholog for FEZF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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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Sequence variations from dbSNP and Humsavar for FEZF1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs587777739 pathogenic, Hypogonadotropic hypogonadism 22 with anosmia, Hypogonadotropic hypogonadism 22 with or without anosmia (HH22) [MIM:616030] 122,303,281(-) G/A coding_sequence_variant, missense_variant
rs587777740 pathogenic, Hypogonadotropic hypogonadism 22 with anosmia 122,303,785(-) AAA/AA coding_sequence_variant, frameshift
rs1000106128 -- 122,304,145(-) G/C coding_sequence_variant, missense_variant
rs1000193580 -- 122,307,152(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000447907 -- 122,313,609(-) C/A upstream_transcript_variant

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: HGMD, LncRNADisease, OMIM, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 22 with or without anosmia
  • hh22
kallmann syndrome
  • hypogonadotropic hypogonadism and anosmia
pancreatic ductal adenocarcinoma
  • ductal adenocarcinoma of the pancreas
hypogonadotropic hypogonadism 7 with or without anosmia
  • hh7
anosmia
- 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
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 58
  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 44 58
  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 58
  4. Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes. (PMID: 26204995) Chapman NH … Wijsman EM (Human genetics 2015) 3 58
  5. Fez family transcription factors: controlling neurogenesis and cell fate in the developing mammalian nervous system. (PMID: 24913420) Eckler MJ … Chen B (BioEssays : news and reviews in molecular, cellular and developmental biology 2014) 3 58

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