FEZF1 (FEZ family zinc finger 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 389549
Gene name FEZ family zinc finger 1
Gene symbol FEZF1
Synonyms (NCBI Gene)
FEZHH22ZNF312B
Chromosome 7
Chromosome location 7q31.32
Summary 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 thi
miRNA miRNA information provided by mirtarbase database.
13
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (13)
miRTarBase ID miRNA Experiments Reference
MIRT995046 hsa-miR-3591-3p CLIP-seq
MIRT995047 hsa-miR-300 CLIP-seq
MIRT995048 hsa-miR-3163 CLIP-seq
MIRT995049 hsa-miR-338-5p CLIP-seq
MIRT995050 hsa-miR-381 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613301 22788 ENSG00000128610
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A0PJY2
Protein name Fez family zinc finger protein 1 (Zinc finger protein 312B)
Protein 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 cel
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 260 → 282 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 288 → 310 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 316 → 338 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 344 → 366 Zinc finger, C2H2 type Domain
PF13912 zf-C2H2_6 371 → 397 Domain
PF00096 zf-C2H2 400 → 423 Zinc finger, C2H2 type Domain
Tissue specificity 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. {ECO:0000269|PubMed:19318583}.
Sequence 
MDSSCHNATTKMLATAPARGNMMSTSKPLAFSIERIMARTPEPKALPVPHFLQGALPKGE
PKHSLHLNSSIPCMIPFVPVAYDTSPKAGVTGSEPRKASLEAPAAPAAVPSAPAFSCSDL
LNCALSLKGDLARDALPLQQYKLVRPRVVNHSSFHAMGALCYLNRGDGPCHPAAGVNIHP
VASYFLSSPLHPQPKTYLAERNKLVVPAVEKYPSGVAFKDLSQAQLQHYMKESAQLLSEK
IAFKTSDFSRGSPNAKPKVFTCEVCGKVFNAHYNLTRHMPVHTGARPFVCKVCGKGFRQA
STLCRHKIIHTQEKPHKCNQCGKAFNRSSTLNTHTRIHAGYKPFVCEFCGKGFHQKGNYK
NHKLTHSGEKQFKCNICNKAFHQVYNLTFHMHTHNDKKPFTCPTCGKGFCRNFDLKKHVR
KLHDSSLGLARTPAGEPGTEPPPPLPQQPPMTLPPLQPPLPTPGPLQPGLHQGHQ
Sequence length 475
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
22
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypogonadotropic hypogonadism 22 with anosmia Pathogenic rs587777739, rs587777740 RCV000144240
RCV000144241
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amenorrhea Likely benign rs561681709 RCV001849749
FEZF1-related disorder Likely benign; Benign rs775695735, rs756663519, rs151311760, rs78309987, rs142331989, rs112066691, rs570196942, rs369460018, rs370467502, rs142377395 RCV003936697
RCV003979394
RCV003935837
RCV004758112
RCV004758119
RCV003948371
RCV003940697
RCV003902866
RCV003958072
RCV003902975
Hypogonadotropic hypogonadism 22 with or without anosmia Benign; Likely benign; Uncertain significance rs62476008, rs893917390 RCV002506659
RCV001823542
Hypogonadotropic hypogonadism 7 with or without anosmia Benign; Likely benign rs62476008 RCV002506659
Show/Hide Text Mining Associations (27)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 29510777
Attention Deficit Disorder with Hyperactivity Associate 31651322
Autistic Disorder Associate 26204995
Carcinogenesis Inhibit 35607960
Carcinoma Hepatocellular Stimulate 30365146
Carcinoma Non Small Cell Lung Associate 30416194, 32349744, 33174014
Carcinoma Non Small Cell Lung Stimulate 32590821
Carcinoma Ovarian Epithelial Associate 32135030
Carcinoma Pancreatic Ductal Associate 29348628
Choroiditis Stimulate 31076545