This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 2008] See more...

Aliases for ZFYVE26 Gene

Aliases for ZFYVE26 Gene

  • Zinc Finger FYVE-Type Containing 26 2 3 5
  • Spastizin 2 3 4
  • FYVE-CENT 2 3 4
  • Zinc Finger FYVE Domain-Containing Protein 26 3 4
  • FYVE Domain-Containing Centrosomal Protein 3 4
  • Zinc Finger, FYVE Domain Containing 26 2 3
  • KIAA0321 2 4
  • Spastic Paraplegia 15 (Complicated, Autosomal Recessive) 2
  • ZFYVE26 5
  • SPG15 3

External Ids for ZFYVE26 Gene

Previous HGNC Symbols for ZFYVE26 Gene

  • SPG15

Previous GeneCards Identifiers for ZFYVE26 Gene

  • GC14M062006
  • GC14M066203
  • GC14M067282
  • GC14M068194
  • GC14M048382

Summaries for ZFYVE26 Gene

Entrez Gene Summary for ZFYVE26 Gene

  • This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 2008]

GeneCards Summary for ZFYVE26 Gene

ZFYVE26 (Zinc Finger FYVE-Type Containing 26) is a Protein Coding gene. Diseases associated with ZFYVE26 include Spastic Paraplegia 15, Autosomal Recessive and Hereditary Spastic Paraplegia. Among its related pathways are PI3K / Akt Signaling and Cytoskeletal Signaling. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-3-phosphate binding. An important paralog of this gene is ZFYVE16.

UniProtKB/Swiss-Prot Summary for ZFYVE26 Gene

  • Phosphatidylinositol 3-phosphate-binding protein required for the abcission step in cytokinesis: recruited to the midbody during cytokinesis and acts as a regulator of abcission. May also be required for efficient homologous recombination DNA double-strand break repair.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZFYVE26 Gene

Genomics for ZFYVE26 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZFYVE26 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 ZFYVE26 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZFYVE26

Top Transcription factor binding sites by QIAGEN in the ZFYVE26 gene promoter:
  • C/EBPalpha
  • En-1
  • FOXC1
  • FOXI1
  • FOXO4
  • HFH-3
  • POU3F2
  • PPAR-gamma1
  • PPAR-gamma2
  • USF-1

Genomic Locations for ZFYVE26 Gene

Genomic Locations for ZFYVE26 Gene
chr14:67,727,374-67,817,293
(GRCh38/hg38)
Size:
89,920 bases
Orientation:
Minus strand
chr14:68,194,091-68,283,307
(GRCh37/hg19)
Size:
89,217 bases
Orientation:
Minus strand

Genomic View for ZFYVE26 Gene

Genes around ZFYVE26 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZFYVE26 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZFYVE26 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZFYVE26 Gene

Proteins for ZFYVE26 Gene

  • Protein details for ZFYVE26 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q68DK2-ZFY26_HUMAN
    Recommended name:
    Zinc finger FYVE domain-containing protein 26
    Protein Accession:
    Q68DK2
    Secondary Accessions:
    • B1B5Y3
    • B4E2U3
    • O15035
    • Q68DT9
    • Q6AW90
    • Q6ZR50
    • Q7Z3A4
    • Q7Z3I1
    • Q8N4W7
    • Q96H43

    Protein attributes for ZFYVE26 Gene

    Size:
    2539 amino acids
    Molecular mass:
    284576 Da
    Quaternary structure:
    • Interacts with AP5Z1, AP5B1, AP5S1 and SPG11. Interacts with TTC19 and KIF13A.
    SequenceCaution:
    • Sequence=BAG11658.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAD97882.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ZFYVE26 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZFYVE26 Gene

Post-translational modifications for ZFYVE26 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZFYVE26 Gene

Domains & Families for ZFYVE26 Gene

Gene Families for ZFYVE26 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ZFYVE26 Gene

InterPro:
Blocks:
  • Zn-finger, FYVE type
ProtoNet:

Suggested Antigen Peptide Sequences for ZFYVE26 Gene

GenScript: Design optimal peptide antigens:
  • ZFYVE26 protein (Q96H43_HUMAN)
  • Spastizin (ZFY26_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q68DK2

UniProtKB/Swiss-Prot:

ZFY26_HUMAN :
  • The FYVE-type zinc finger mediates binding to phosphatidylinositol 3-phosphate and recruitment to the midbody during cytokinesis.
Domain:
  • The FYVE-type zinc finger mediates binding to phosphatidylinositol 3-phosphate and recruitment to the midbody during cytokinesis.
genes like me logo Genes that share domains with ZFYVE26: view

Function for ZFYVE26 Gene

Molecular function for ZFYVE26 Gene

UniProtKB/Swiss-Prot Function:
Phosphatidylinositol 3-phosphate-binding protein required for the abcission step in cytokinesis: recruited to the midbody during cytokinesis and acts as a regulator of abcission. May also be required for efficient homologous recombination DNA double-strand break repair.

Phenotypes From GWAS Catalog for ZFYVE26 Gene

Gene Ontology (GO) - Molecular Function for ZFYVE26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20208530
GO:0008289 lipid binding IEA --
GO:0032266 phosphatidylinositol-3-phosphate binding IEA,IDA 20208530
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZFYVE26: view
genes like me logo Genes that share phenotypes with ZFYVE26: view

Human Phenotype Ontology for ZFYVE26 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZFYVE26 Gene

MGI Knock Outs for ZFYVE26:

Animal Model Products

CRISPR Products

miRNA for ZFYVE26 Gene

miRTarBase miRNAs that target ZFYVE26

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZFYVE26

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ZFYVE26 Gene

Localization for ZFYVE26 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZFYVE26 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Midbody. Note=Localizes to the centrosome during all stages of the cell cycle. Recruited to the midbody during cytokinesis by KIF13A.

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 ZFYVE26 gene
Compartment Confidence
cytoskeleton 5
lysosome 4
nucleus 3
cytosol 3
endosome 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ZFYVE26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005765 lysosomal membrane HDA 17897319
GO:0005813 centrosome IBA,IDA 20208530
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with ZFYVE26: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ZFYVE26 Gene

Pathways & Interactions for ZFYVE26 Gene

PathCards logo

SuperPathways for ZFYVE26 Gene

genes like me logo Genes that share pathways with ZFYVE26: view

Pathways by source for ZFYVE26 Gene

2 Cell Signaling Technology pathways for ZFYVE26 Gene

Interacting Proteins for ZFYVE26 Gene

Gene Ontology (GO) - Biological Process for ZFYVE26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IEA --
GO:0000724 double-strand break repair via homologous recombination IEA,IMP 20613862
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with ZFYVE26: view

No data available for SIGNOR curated interactions for ZFYVE26 Gene

Drugs & Compounds for ZFYVE26 Gene

No Compound Related Data Available

Transcripts for ZFYVE26 Gene

mRNA/cDNA for ZFYVE26 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
11 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 ZFYVE26

Alternative Splicing Database (ASD) splice patterns (SP) for ZFYVE26 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: -
SP2: - -
SP3:
SP4:
SP5:
SP6:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34a · 34b ^ 35a · 35b ^ 36a · 36b ^ 37 ^ 38 ^ 39 ^ 40 ^ 41a · 41b ^ 42
SP1: - - -
SP2:
SP3: -
SP4:
SP5:
SP6:

Relevant External Links for ZFYVE26 Gene

GeneLoc Exon Structure for
ZFYVE26

Expression for ZFYVE26 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZFYVE26 Gene

Protein differential expression in normal tissues from HIPED for ZFYVE26 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (21.4), Blymphocyte (15.2), Pancreas (12.2), and Placenta (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZFYVE26 Gene



Protein tissue co-expression partners for ZFYVE26 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZFYVE26

SOURCE GeneReport for Unigene cluster for ZFYVE26 Gene:

Hs.98041

mRNA Expression by UniProt/SwissProt for ZFYVE26 Gene:

Q68DK2-ZFY26_HUMAN
Tissue specificity: Strongest expression in the adrenal gland, bone marrow, adult brain, fetal brain, lung, placenta, prostate, skeletal muscle, testis, thymus, and retina. Intermediate levels are detected in other structures, including the spinal cord.

Evidence on tissue expression from TISSUES for ZFYVE26 Gene

  • Nervous system(4.6)
  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZFYVE26 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • prostate
  • urethra
  • urinary bladder
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with ZFYVE26: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ZFYVE26 Gene

Orthologs for ZFYVE26 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZFYVE26 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZFYVE26 30 31
  • 99.62 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZFYVE26 30 31
  • 88.15 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZFYVE26 30 31
  • 87.32 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Zfyve26 30 17 31
  • 83.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Zfyve26 30
  • 83.39 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 82 (a)
OneToMany
-- 31
  • 73 (a)
OneToMany
-- 31
  • 62 (a)
OneToMany
-- 31
  • 57 (a)
OneToMany
-- 31
  • 55 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia ZFYVE26 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 76 (a)
OneToMany
ZFYVE26 30
  • 64.67 (n)
-- 31
  • 63 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
-- 31
  • 51 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia ZFYVE26 31
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia zfyve26 30
  • 57.42 (n)
Zebrafish
(Danio rerio)
Actinopterygii zfyve26 30 31
  • 54.48 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG5270 31
  • 21 (a)
OneToOne
Species where no ortholog for ZFYVE26 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • 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 Vase (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 ZFYVE26 Gene

ENSEMBL:
Gene Tree for ZFYVE26 (if available)
TreeFam:
Gene Tree for ZFYVE26 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZFYVE26: view image

Paralogs for ZFYVE26 Gene

genes like me logo Genes that share paralogs with ZFYVE26: view

Variants for ZFYVE26 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZFYVE26 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
30932 Pathogenic: Hereditary spastic paraplegia 15 67,776,044(-) CA/C FRAMESHIFT_VARIANT
636080 Uncertain Significance: Retinitis pigmentosa 67,729,229(-) G/T MISSENSE_VARIANT
639301 Uncertain Significance: Spastic paraplegia 67,762,337(-) G/A MISSENSE_VARIANT
640955 Uncertain Significance: Spastic paraplegia 67,798,088(-) C/T MISSENSE_VARIANT
641210 Pathogenic: Spastic paraplegia 67,783,172(-) A/C NONSENSE

Additional dbSNP identifiers (rs#s) for ZFYVE26 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZFYVE26 Gene

Variant ID Type Subtype PubMed ID
dgv648e212 CNV loss 25503493
esv3360565 CNV insertion 20981092
nsv1054697 CNV gain 25217958
nsv1323 CNV insertion 18451855
nsv983838 CNV duplication 23825009

Variation tolerance for ZFYVE26 Gene

Residual Variation Intolerance Score: 9.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.10; 90.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZFYVE26 Gene

Human Gene Mutation Database (HGMD)
ZFYVE26
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZFYVE26

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZFYVE26 Gene

Disorders for ZFYVE26 Gene

MalaCards: The human disease database

(55) MalaCards diseases for ZFYVE26 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 15, autosomal recessive
  • spg15
hereditary spastic paraplegia
  • spastic paraplegia 3, autosomal dominant
spastic paraplegia 15
  • spastic paraplegia 15, autosomal recessive
paraplegia
  • paraplegia, lower
leber congenital amaurosis 13
  • lca13
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZFY26_HUMAN
  • Spastic paraplegia 15, autosomal recessive (SPG15) [MIM:270700]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG15 is a complex form associated with additional neurological symptoms such as cognitive deterioration or mental retardation, axonal neuropathy, mild cerebellar signs, and, less frequently, a central hearing deficit, decreased visual acuity, or retinal degeneration. {ECO:0000269 PubMed:18394578, ECO:0000269 PubMed:19084844, ECO:0000269 PubMed:19805727}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ZFYVE26

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ZFYVE26: view

No data available for Genatlas for ZFYVE26 Gene

Publications for ZFYVE26 Gene

  1. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. (PMID: 18394578) Hanein S … Stevanin G (American journal of human genetics 2008) 2 3 4
  2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4
  3. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. (PMID: 20613862) Słabicki M … Buchholz F (PLoS biology 2010) 3 4
  4. PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody. (PMID: 20208530) Sagona AP … Stenmark H (Nature cell biology 2010) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for ZFYVE26 Gene

Sources for ZFYVE26 Gene