HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FEZF1
FEZ family zinc finger 1
Chromosome 7 · 7q31.32
NCBI Gene: 389549Ensembl: ENSG00000128610.13HGNC: HGNC:22788UniProt: A0PJY2
23PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleoplasmRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activityKallmann syndromehypogonadotropic hypogonadismtype 2 diabetes mellitusdiabetes mellitus
✦AI Summary

FEZF1 is a zinc finger transcription factor with dual roles in neuronal development and cancer biology. In normal physiology, FEZF1 functions as a transcription repressor involved in olfactory sensory neuron (OSN) axonal projection and proper termination [UniProt], contributing to rostro-caudal patterning of the diencephalon and prethalamic formation. FEZF1 mutations cause hypogonadotropic hypogonadism with or without anosmia, with FEZF1 recently added to the genetic screening list for Kallmann syndrome 1. Clinically, dysregulation of FEZF1-AS1, an antisense lncRNA transcript, promotes multiple malignancies. FEZF1-AS1 is upregulated in hepatocellular carcinoma, colorectal cancer, gastric cancer, pancreatic cancer, lung adenocarcinoma, osteosarcoma, and cervical cancer 234. The lncRNA promotes tumorigenesis through competing endogenous RNA mechanisms, sponging tumor-suppressive microRNAs 2. FEZF1-AS1 enhances cancer cell proliferation, migration, invasion, and anti-apoptosis via JAK2/STAT3 signaling, epithelial-mesenchymal transition, and Wnt/β-catenin pathways 53. Additionally, FEZF1-AS1 upregulation promotes TGF-β2-induced lens epithelial cell proliferation and migration 6, relevant to posterior capsule opacification pathology. FEZF1-AS1 represents a potential diagnostic biomarker and therapeutic target across multiple disease contexts.

Sources cited
1
FEZF1 mutations cause hypogonadotropic hypogonadism and have been added to the genetic screening list for Kallmann syndrome
PMID: 26680571
2
FEZF1-AS1 is ectopically expressed in multiple cancers and acts as competing endogenous RNA sponging tumor-suppressive microRNAs
PMID: 31276636
3
FEZF1-AS1 is highly expressed in pancreatic cancer, colorectal cancer, lung adenocarcinoma and regulates proliferation, migration, invasion, and EMT/STAT3/Wnt signaling
PMID: 31175144
4
FEZF1-AS1 overexpression promotes osteosarcoma cell proliferation and invasion while altering 1156 alternative splicing events
PMID: 41331461
5
FEZF1-AS1 upregulation promotes TGF-β2-induced lens epithelial cell proliferation and migration via FEZF1 protein induction
PMID: 31281667
6
FEZF1-AS1 promotes hepatocellular carcinoma cell invasion and EMT through JAK2/STAT3 signaling pathway
PMID: 29957463
Disease Associationsⓘ21
Kallmann syndromeOpen Targets
0.67Moderate
hypogonadotropic hypogonadismOpen Targets
0.51Moderate
type 2 diabetes mellitusOpen Targets
0.33Weak
diabetes mellitusOpen Targets
0.33Weak
smoking initiationOpen Targets
0.29Weak
substance abuseOpen Targets
0.21Weak
attention deficit hyperactivity disorderOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
COVID-19Open Targets
0.17Weak
severe acute respiratory syndromeOpen Targets
0.17Weak
Gastric Papillary AdenocarcinomaOpen Targets
0.17Weak
HypocalcemiaOpen Targets
0.16Weak
mental or behavioural disorderOpen Targets
0.13Weak
risk-taking behaviourOpen Targets
0.12Weak
non-small cell lung carcinomaOpen Targets
0.12Weak
amenorrheaOpen Targets
0.11Weak
gastric cancerOpen Targets
0.10Weak
colorectal carcinomaOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.10Suggestive
retinoblastomaOpen Targets
0.09Suggestive
Hypogonadotropic hypogonadism 22 with or without anosmiaUniProt
Pathogenic Variants2
NM_001024613.4(FEZF1):c.832C>T (p.His278Tyr)Pathogenic
Hypogonadotropic hypogonadism 22 with anosmia
☆☆☆☆2014→ Residue 278
NM_001024613.4(FEZF1):c.653del (p.Phe218fs)Pathogenic
Hypogonadotropic hypogonadism 22 with anosmia
☆☆☆☆2014→ Residue 218
View on ClinVar ↗
Related Genes
FEZF2Shared pathway80%ZBTB7CShared pathway25%TESShared pathway25%CGREF1Shared pathway25%TP53I11Shared pathway25%RARRES1Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
24%
Ovary
24%
Liver
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
FEZF1FEZF2ZBTB7CTESCGREF1TP53I11RARRES1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A0PJY2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.42Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.23 [0.14–0.42]
RankingsWhere FEZF1 stands among ~20K protein-coding genes
  • #13,418of 20,598
    Most Researched23
  • #4,541of 5,498
    Most Pathogenic Variants2
  • #2,217of 17,882
    Most Constrained (LOEUF)0.42 · top quartile
Genes detectedFEZF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Long noncoding RNA FEZF1-AS1 in human cancers.
PMID: 31276636
Clin Chim Acta · 2019
1.00
2
FEZF1-AS1: a novel vital oncogenic lncRNA in multiple human malignancies.
PMID: 31175144
Biosci Rep · 2019
0.90
3
LncRNA FEZF1-AS1 regulates the gene expression and alternative splicing associated with osteosarcoma.
PMID: 41331461
J Orthop Surg Res · 2025
0.80
4
PMID: 20301509
0.70
5
LncRNA FEZF1-AS1 Promotes TGF-
PMID: 31281667
J Ophthalmol · 2019
0.60