This gene encodes an endosomal protein that belongs to the FYVE zinc finger family of proteins. The encoded protein is thought to regulate membrane trafficking in the endosome. This protein functions as a scaffold protein in the transforming growth factor-beta signaling pathway and is involved in positive and negative feedback regulation of the bone morphogenetic protein signal... See more...

Aliases for ZFYVE16 Gene

Aliases for ZFYVE16 Gene

  • Zinc Finger FYVE-Type Containing 16 2 3 5
  • Zinc Finger FYVE Domain-Containing Protein 16 3 4
  • Protein Phosphatase 1, Regulatory Subunit 69 2 3
  • Zinc Finger, FYVE Domain Containing 16 2 3
  • Endofin 2 4
  • Endosome-Associated FYVE-Domain Protein 3
  • Endosome-Associated FYVE Domain Protein 4
  • KIAA0305 4
  • PPP1R69 3

External Ids for ZFYVE16 Gene

Previous GeneCards Identifiers for ZFYVE16 Gene

  • GC05P079942
  • GC05P079742
  • GC05P079787
  • GC05P079739
  • GC05P074911
  • GC05P079704

Summaries for ZFYVE16 Gene

Entrez Gene Summary for ZFYVE16 Gene

  • This gene encodes an endosomal protein that belongs to the FYVE zinc finger family of proteins. The encoded protein is thought to regulate membrane trafficking in the endosome. This protein functions as a scaffold protein in the transforming growth factor-beta signaling pathway and is involved in positive and negative feedback regulation of the bone morphogenetic protein signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for ZFYVE16 Gene

ZFYVE16 (Zinc Finger FYVE-Type Containing 16) is a Protein Coding gene. Diseases associated with ZFYVE16 include Dextrocardia and Gluten Allergy. Among its related pathways are Signaling by BMP and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein transporter activity and 1-phosphatidylinositol binding. An important paralog of this gene is ZFYVE26.

UniProtKB/Swiss-Prot Summary for ZFYVE16 Gene

  • May be involved in regulating membrane trafficking in the endosomal pathway. Overexpression induces endosome aggregation. Required to target TOM1 to endosomes.

Gene Wiki entry for ZFYVE16 Gene

Additional gene information for ZFYVE16 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZFYVE16 Gene

Genomics for ZFYVE16 Gene

GeneHancer (GH) Regulatory Elements for ZFYVE16 Gene

Promoters and enhancers for ZFYVE16 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZFYVE16 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZFYVE16

Top Transcription factor binding sites by QIAGEN in the ZFYVE16 gene promoter:
  • AML1a
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPbeta
  • Msx-1
  • POU2F1
  • POU2F1a

Genomic Locations for ZFYVE16 Gene

Genomic Locations for ZFYVE16 Gene
chr5:80,407,592-80,483,379
(GRCh38/hg38)
Size:
75,788 bases
Orientation:
Plus strand
chr5:79,703,832-79,775,498
(GRCh37/hg19)
Size:
71,667 bases
Orientation:
Plus strand

Genomic View for ZFYVE16 Gene

Genes around ZFYVE16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZFYVE16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZFYVE16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZFYVE16 Gene

Proteins for ZFYVE16 Gene

  • Protein details for ZFYVE16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z3T8-ZFY16_HUMAN
    Recommended name:
    Zinc finger FYVE domain-containing protein 16
    Protein Accession:
    Q7Z3T8
    Secondary Accessions:
    • O15023
    • Q5H9U2
    • Q7LAU7
    • Q86T69
    • Q8N5L3
    • Q8NEK3

    Protein attributes for ZFYVE16 Gene

    Size:
    1539 amino acids
    Molecular mass:
    168903 Da
    Quaternary structure:
    • Interacts with the C-terminus of TOM1. Does not interact with TOM1L1 or TOM1L2.
    SequenceCaution:
    • Sequence=BAA20764.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ZFYVE16 Gene

    Alternative splice isoforms for ZFYVE16 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZFYVE16 Gene

Post-translational modifications for ZFYVE16 Gene

  • Ubiquitination at Lys650
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ZFYVE16 Gene

Domains & Families for ZFYVE16 Gene

Gene Families for ZFYVE16 Gene

Protein Domains for ZFYVE16 Gene

Suggested Antigen Peptide Sequences for ZFYVE16 Gene

GenScript: Design optimal peptide antigens:
  • Endosome-associated FYVE domain protein (ZFY16_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z3T8

UniProtKB/Swiss-Prot:

ZFY16_HUMAN :
  • The FYVE-type zinc finger is necessary and sufficient for its localization into early endosomes and mediates the association with PI3P.
Domain:
  • The FYVE-type zinc finger is necessary and sufficient for its localization into early endosomes and mediates the association with PI3P.
genes like me logo Genes that share domains with ZFYVE16: view

Function for ZFYVE16 Gene

Molecular function for ZFYVE16 Gene

UniProtKB/Swiss-Prot Function:
May be involved in regulating membrane trafficking in the endosomal pathway. Overexpression induces endosome aggregation. Required to target TOM1 to endosomes.

Phenotypes From GWAS Catalog for ZFYVE16 Gene

Gene Ontology (GO) - Molecular Function for ZFYVE16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14613930
GO:0005545 1-phosphatidylinositol binding IDA 11546807
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IDA 11433298
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZFYVE16: view
genes like me logo Genes that share phenotypes with ZFYVE16: view

Animal Model Products

CRISPR Products

miRNA for ZFYVE16 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZFYVE16

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZFYVE16 Gene

Localization for ZFYVE16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZFYVE16 Gene

Cytoplasm. Early endosome membrane; Peripheral membrane protein. Note=Localized to early endosomes. Membrane-associated, probably via its association with phosphatidylinositol 3-phosphate (PI3P).

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 ZFYVE16 gene
Compartment Confidence
endosome 5
cytosol 5
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZFYVE16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA,IBA 11546807
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ZFYVE16: view

Pathways & Interactions for ZFYVE16 Gene

genes like me logo Genes that share pathways with ZFYVE16: view

Pathways by source for ZFYVE16 Gene

2 Reactome pathways for ZFYVE16 Gene
2 KEGG pathways for ZFYVE16 Gene

Gene Ontology (GO) - Biological Process for ZFYVE16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006622 protein targeting to lysosome IBA,IMP 11546807
GO:0007165 signal transduction NAS 11546807
GO:0016050 vesicle organization NAS 11546807
GO:0016197 endosomal transport IMP,IBA 11546807
GO:0030100 regulation of endocytosis TAS 11546807
genes like me logo Genes that share ontologies with ZFYVE16: view

No data available for SIGNOR curated interactions for ZFYVE16 Gene

Drugs & Compounds for ZFYVE16 Gene

(1) Additional Compounds for ZFYVE16 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ZFYVE16: view

Transcripts for ZFYVE16 Gene

mRNA/cDNA for ZFYVE16 Gene

5 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
13 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 ZFYVE16

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZFYVE16 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^
SP1: - - - - -
SP2: - - - - - -
SP3: - -
SP4: - - - - -
SP5: - -
SP6: - -
SP7: - - -
SP8: - - - - - -

ExUns: 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b · 22c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ZFYVE16 Gene

GeneLoc Exon Structure for
ZFYVE16

Expression for ZFYVE16 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZFYVE16 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZFYVE16 Gene

This gene is overexpressed in Serum (19.2), Testis (18.5), and Plasma (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZFYVE16 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZFYVE16

SOURCE GeneReport for Unigene cluster for ZFYVE16 Gene:

Hs.482660

mRNA Expression by UniProt/SwissProt for ZFYVE16 Gene:

Q7Z3T8-ZFY16_HUMAN
Tissue specificity: Widely expressed. Highly expressed in kidney, placenta and lung. Expressed at intermediate level in heart, brain, skeletal muscle, spleen and liver. Weakly expressed in colon, thymus and peripheral blood lymphocytes.

Evidence on tissue expression from TISSUES for ZFYVE16 Gene

  • Nervous system(4.6)
  • Lung(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with ZFYVE16: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZFYVE16 Gene

Orthologs for ZFYVE16 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ZFYVE16 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZFYVE16 31 30
  • 99.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZFYVE16 31 30
  • 89.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ZFYVE16 31 30
  • 89.4 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Zfyve16 17 31 30
  • 81.5 (n)
rat
(Rattus norvegicus)
Mammalia Zfyve16 30
  • 80.25 (n)
oppossum
(Monodelphis domestica)
Mammalia ZFYVE16 31
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ZFYVE16 31
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZFYVE16 31 30
  • 61.34 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZFYVE16 31
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zfyve16 30
  • 62.91 (n)
zebrafish
(Danio rerio)
Actinopterygii zfyve16 31 30
  • 54.09 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAB1 31
  • 7 (a)
OneToMany
Species where no ortholog for ZFYVE16 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ZFYVE16 Gene

ENSEMBL:
Gene Tree for ZFYVE16 (if available)
TreeFam:
Gene Tree for ZFYVE16 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZFYVE16: view image

Paralogs for ZFYVE16 Gene

(1) SIMAP similar genes for ZFYVE16 Gene using alignment to 5 proteins:

  • ZFY16_HUMAN
  • D6RC80_HUMAN
  • H0Y8R0_HUMAN
  • H0YAA4_HUMAN
  • H0YAB1_HUMAN
genes like me logo Genes that share paralogs with ZFYVE16: view

Variants for ZFYVE16 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZFYVE16 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
714256 Benign: not provided 80,436,812(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
714257 Benign: not provided 80,474,752(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
768011 Benign: not provided 80,437,434(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
768012 Benign: not provided 80,437,866(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs1554047435 Likely Pathogenic: Cerebral arteriovenous malformation 80,451,544(+) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for ZFYVE16 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZFYVE16 Gene

Variant ID Type Subtype PubMed ID
esv3605573 CNV loss 21293372
esv3605574 CNV loss 21293372
nsv1028027 CNV gain 25217958
nsv518480 CNV gain 19592680

Variation tolerance for ZFYVE16 Gene

Residual Variation Intolerance Score: 66.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.87; 58.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZFYVE16 Gene

Human Gene Mutation Database (HGMD)
ZFYVE16
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZFYVE16

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZFYVE16 Gene

Disorders for ZFYVE16 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ZFYVE16 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dextrocardia
  • heart predominantly in right hemithorax
gluten allergy
  • allergy to gluten
aarskog-scott syndrome
  • aas
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZFYVE16

genes like me logo Genes that share disorders with ZFYVE16: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZFYVE16 Gene

Publications for ZFYVE16 Gene

  1. Endofin, an endosomal FYVE domain protein. (PMID: 11546807) Seet LF … Hong W (The Journal of biological chemistry 2001) 2 3 4 23 54
  2. Endofin recruits TOM1 to endosomes. (PMID: 14613930) Seet LF … Hong W (The Journal of biological chemistry 2004) 3 4 23 54
  3. EGF-induced tyrosine phosphorylation of Endofin is dependent on PI3K activity and proper localization to endosomes. (PMID: 19887107) Toy W … Lim YP (Cellular signalling 2010) 3 23 54
  4. Endofin acts as a Smad anchor for receptor activation in BMP signaling. (PMID: 17356069) Shi W … Cao X (Journal of cell science 2007) 3 23 54
  5. Endofin, a FYVE domain protein, interacts with Smad4 and facilitates transforming growth factor-beta signaling. (PMID: 17272273) Chen YG … Lu Z (The Journal of biological chemistry 2007) 3 23 54

Products for ZFYVE16 Gene

Sources for ZFYVE16 Gene