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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
  • 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 with or without anosmia and uterine inversion. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is GFI1.

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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FEZF1 Gene

Genomics for FEZF1 Gene

Regulatory Elements for FEZF1 Gene

Promoters for FEZF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FEZF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FEZF1 Gene

Chromosome:
7
Start:
122,301,309 bp from pter
End:
122,311,853 bp from pter
Size:
10,545 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 StructureGene Density

RefSeq DNA sequence for FEZF1 Gene

Proteins for FEZF1 Gene

  • 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

Proteomics data for FEZF1 Gene at MOPED

Post-translational modifications for FEZF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FEZF1 Gene

No data available for DME Specific Peptides for FEZF1 Gene

Domains & Families for FEZF1 Gene

Gene Families for FEZF1 Gene

Protein Domains for FEZF1 Gene

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.
  • Contains 6 C2H2-type zinc fingers.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Similarity:
  • Contains 6 C2H2-type zinc fingers.
genes like me logo Genes that share domains with FEZF1: view

Function for FEZF1 Gene

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).

Gene Ontology (GO) - Molecular Function for FEZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region 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

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FEZF1 Gene COMPARTMENTS Subcellular localization image for FEZF1 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for FEZF1 Gene

Pathways & Interactions for FEZF1 Gene

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 from RNA polymerase II promoter IEA --
GO:0001764 neuron migration IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0008285 negative regulation of cell proliferation IEA --
GO:0021537 telencephalon 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

No Compound Related Data Available

Transcripts for FEZF1 Gene

mRNA/cDNA for FEZF1 Gene

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

Unigene Clusters for FEZF1 Gene

FEZ family zinc finger 1:
Representative Sequences:

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

mRNA expression in normal human tissues 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, PaxDb, and MOPED for FEZF1 Gene



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.
genes like me logo Genes that share expression patterns with FEZF1: view

Protein tissue co-expression partners for FEZF1 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia FEZF1 35
  • 92.12 (n)
  • 95.45 (a)
FEZF1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fezf1 35
  • 89.96 (n)
  • 94.32 (a)
Fezf1 16
Fezf1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FEZF1 35
  • 99.65 (n)
  • 99.79 (a)
FEZF1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fezf1 35
  • 90.6 (n)
  • 94.53 (a)
oppossum
(Monodelphis domestica)
Mammalia FEZF1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FEZF1 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves FEZF1 35
  • 80.78 (n)
  • 84.94 (a)
FEZF1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FEZF1 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fezf1 35
  • 74.66 (n)
  • 81.77 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398172 35
zebrafish
(Danio rerio)
Actinopterygii fezf1 35
  • 69.51 (n)
  • 69.27 (a)
fezf1 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta erm 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fezf-1 36
  • 70 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 78 (a)
OneToMany
Species with no ortholog for FEZF1:
  • 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)

Paralogs for FEZF1 Gene

Paralogs for FEZF1 Gene

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

Variants for FEZF1 Gene

Sequence variations from dbSNP and Humsavar for FEZF1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_071918 Hypogonadotropic hypogonadism 22 with or without anosmia (HH22)
rs988720 -- 122,312,927(+) CCTTA(C/T)TTTAG upstream-variant-2KB
rs1443748 -- 122,312,943(+) AGGGG(C/T)AGAGG upstream-variant-2KB
rs5887081 -- 122,311,695(+) GAAGA(-/T)TTTTT utr-variant-5-prime
rs7779018 -- 122,310,911(+) TTTTG(A/G)ACAGG utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv5931 CNV Loss 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)

Relevant External Links for FEZF1 Gene

HapMap Linkage Disequilibrium report
FEZF1
Human Gene Mutation Database (HGMD)
FEZF1

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

Disorders for FEZF1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for FEZF1 Gene - From: OMIM, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism with or without anosmia
  • hypogonadotropic hypogonadism 22 with or without anosmia
uterine inversion
  • inversion of uterus during delivery
eyelid neoplasm
  • tumor of the eyelid
kallmann syndrome
  • familial hypogonadism with anosmia
lymph node tuberculosis
  • king's evil
- 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.

Relevant External Links for FEZF1

Genetic Association Database (GAD)
FEZF1
Human Genome Epidemiology (HuGE) Navigator
FEZF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FEZF1
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 L.D. … Topaloglu A.K. (Am. J. Hum. Genet. 2014) 3 4 67
  2. Fez family transcription factors: controlling neurogenesis and cell fate in the developing mammalian nervous system. (PMID: 24913420) Eckler M.J. … Chen B. (Bioessays 2014) 3
  3. Human ZNF312b oncogene is regulated by Sp1 binding to its promoter region through DNA demethylation and histone acetylation in gastric cancer. (PMID: 21170990) Song I.S. … Kim N.S. (Int. J. Cancer 2011) 3
  4. 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. … Monaco A.P. (Mol. Psychiatry 2010) 3
  5. Human ZNF312b promotes the progression of gastric cancer by transcriptional activation of the K-ras gene. (PMID: 19318583) Song I.S. … Kim N.S. (Cancer Res. 2009) 3

Products for FEZF1 Gene

Sources for FEZF1 Gene

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