Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23503
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger FYVE-type containing 26
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZFYVE26
Synonyms (NCBI Gene) Gene synonyms aliases
FYVE-CENT, SPG15
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q24.1
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs35018134 G>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign Coding sequence variant, synonymous variant
rs35512910 C>A Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Intron variant, genic upstream transcript variant, coding sequence variant, missense variant
rs118204049 G>A Likely-pathogenic Stop gained, coding sequence variant
rs118204050 G>A Pathogenic Stop gained, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs137907310 C>A,T Pathogenic-likely-pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019559 hsa-miR-340-5p Sequencing 20371350
MIRT022971 hsa-miR-124-3p Microarray 18668037
MIRT051032 hsa-miR-17-5p CLASH 23622248
MIRT049794 hsa-miR-92a-3p CLASH 23622248
MIRT042414 hsa-miR-18b-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000281 Process Mitotic cytokinesis IEA
GO:0000724 Process Double-strand break repair via homologous recombination IEA
GO:0000724 Process Double-strand break repair via homologous recombination IMP 20613862
GO:0005515 Function Protein binding IPI 20208530, 20613862, 25416956, 32296183
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612012 20761 ENSG00000072121
Protein
UniProt ID Q68DK2
Protein name Zinc finger FYVE domain-containing protein 26 (FYVE domain-containing centrosomal protein) (FYVE-CENT) (Spastizin)
Protein function Phosphatidylinositol 3-phosphate-binding protein required for the abscission step in cytokinesis: recruited to the midbody during cytokinesis and acts as a regulator of abscission. May also be required for efficient homologous recombination DNA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01363 FYVE 1807 1873 FYVE zinc finger Domain
Tissue specificity 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. {
Sequence
MNHPFGKEEAASQKQLFGFFCECLRRGEWELAQACVPQLQEGQGDIPKRVEDILQALVVC
PNLLRCGQDINPQRVAWVWLLVLEKWLAREKKLLPVVFRRKLEFLLLSEDLQGDIPENIL
EELYETLTQGAVGHVPDGNPRRESWTPRLSSEAVSVLWDLLRQSPQPAQALLELLLEEDD
GTGLCHWPLQNALVDLIRKALRALQGPDSVPPGVVDAIYGALRTLRCPAEPLGVELHLLC
EELLEACRTEGSPLREERLLSCLLHKASRGLLSLYGHTYAEKVTEKPPRATASGKVSPDH
LDPERAMLALFSNPNPAEAWKVAYFYCLSNNKHFLEQILVTALTLLKEEDFPNLGCLLDR
EFRPLSCLLVLLGWTHCQSLESAKRLLQTLHRTQGPGCDELLRDACDGLWAHLEVLEWCI
QQSSNPIPKRDLLYHLHGGDSHSVLYTLHHLTNLPALREEDVLKLLQKVPAKDPQQEPDA
VDAPVPEHLSQCQNLTLYQGFCAMKYAIYALCVNSHQHSQCQDCKDSLSEDLASATEPAN
DSLSSPGAANLFSTYLARCQQYLCSIPDSLCLELLENIFSLLLITSADLHPEPHLPEDYA
EDDDIEGKSPSGLRSPSESPQHIAHPERKSERGSLGVPKTLAYTMPSHVKAEPKDSYPGP
HRHSFLDLKHFTSGISGFLADEFAIGAFLRLLQEQLDEISSRSPPEKPKQESQSCSGSRD
GLQSRLHRLSKVVSEAQWRHKVVTSNHRSEEQPSRRYQPATRHPSLRRGRRTRRSQADGR
DRGSNPSLESTSSELSTSTSEGSLSAMSGRNELHSRLHPHPQSSLIPMMFSPPESLLASC
ILRGNFAEAHQVLFTFNLKSSPSSGELMFMERYQEVIQELAQVEHKIENQNSDAGSSTIR
RTGSGRSTLQAIGSAAAAGMVFYSISDVTDKLLNTSGDPIPMLQEDFWISTALVEPTAPL
REVLEDLSPPAMAAFDLACSQCQLWKTCKQLLETAERRLNSSLERRGRRIDHVLLNADGI
RGFPVVLQQISKSLNYLLMSASQTKSESVEEKGGGPPRCSITELLQMCWPSLSEDCVASH
TTLSQQLDQVLQSLREALELPEPRTPPLSSLVEQAAQKAPEAEAHPVQIQTQLLQKNLGK
QTPSGSRQMDYLGTFFSYCSTLAAVLLQSLSSEPDHVEVKVGNPFVLLQQSSSQLVSHLL
FERQVPPERLAALLAQENLSLSVPQVIVSCCCEPLALCSSRQSQQTSSLLTRLGTLAQLH
ASHCLDDLPLSTPSSPRTTENPTLERKPYSSPRDSSLPALTSSALAFLKSRSKLLATVAC
LGASPRLKVSKPSLSWKELRGRREVPLAAEQVARECERLLEQFPLFEAFLLAAWEPLRGS
LQQGQSLAVNLCGWASLSTVLLGLHSPIALDVLSEAFEESLVARDWSRALQLTEVYGRDV
DDLSSIKDAVLSCAVACDKEGWQYLFPVKDASLRSRLALQFVDRWPLESCLEILAYCISD
TAVQEGLKCELQRKLAELQVYQKILGLQSPPVWCDWQTLRSCCVEDPSTVMNMILEAQEY
ELCEEWGCLYPIPREHLISLHQKHLLHLLERRDHDKALQLLRRIPDPTMCLEVTEQSLDQ
HTSLATSHFLANYLTTHFYGQLTAVRHREIQALYVGSKILLTLPEQHRASYSHLSSNPLF
MLEQLLMNMKVDWATVAVQTLQQLLVGQEIGFTMDEVDSLLSRYAEKALDFPYPQREKRS
DSVIHLQEIVHQAADPETLPRSPSAEFSPAAPPGISSIHSPSLRERSFPPTQPSQEFVPP
ATPPARHQWVPDETESICMVCCREHFTMFNRRHHCRRCGRLVCSSCSTKKMVVEGCRENP
ARVCDQCYSYCNK
DVPEEPSEKPEALDSSKSESPPYSFVVRVPKADEVEWILDLKEEENE
LVRSEFYYEQAPSASLCIAILNLHRDSIACGHQLIEHCCRLSKGLTNPEVDAGLLTDIMK
QLLFSAKMMFVKAGQSQDLALCDSYISKVDVLNILVAAAYRHVPSLDQILQPAAVTRLRN
QLLEAEYYQLGVEVSTKTGLDTTGAWHAWGMACLKAGNLTAAREKFSRCLKPPFDLNQLN
HGSRLVQDVVEYLESTVRPFVSLQDDDYFATLRELEATLRTQSLSLAVIPEGKIMNNTYY
QECLFYLHNYSTNLAIISFYVRHSCLREALLHLLNKESPPEVFIEGIFQPSYKSGKLHTL
ENLLESIDPTLESWGKYLIAACQHLQKKNYYHILYELQQFMKDQVRAAMTCIRFFSHKAK
SYTELGEKLSWLLKAKDHLKIYLQETSRSSGRKKTTFFRKKMTAADVSRHMNTLQLQMEV
TRFLHRCESAGTSQITTLPLPTLFGNNHMKMDVACKVMLGGKNVEDGFGIAFRVLQDFQL
DAAMTYCRAARQLVEKEKYSEIQQLLKCVSESGMAAKSDGDTILLNCLEAFKRIPPQELE
GLIQAIHNDDNKVRAYLICCKLRSAYLIAVKQEHSRATALVQQVQQAAKSSGDAVVQDIC
AQWLLTSHPRGAHGPGSRK
Sequence length 2539
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary spastic paraplegia Hereditary spastic paraplegia 15, Hereditary spastic paraplegia rs768176054, rs941230062, rs1555394824, rs1555399289, rs2140185342, rs763869212, rs868672014, rs1555393005, rs118204050, rs981804211, rs1555399278, rs1566881181, rs746606852, rs771393692, rs753426920
View all (43 more)
N/A
Spastic Paraplegia spastic paraplegia rs1566893090, rs140354725, rs2039616151, rs752283089, rs1186788102, rs1470672632, rs768176054, rs1177577061, rs941230062, rs2039786680, rs878855013, rs768366199, rs763869212, rs2039997721, rs868672014
View all (42 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer subtype (triple negative vs luminal A-like) N/A N/A GWAS
retinal dystrophy Retinal dystrophy N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 24284334
Amyotrophic Lateral Sclerosis Associate 24284334
Breast Neoplasms Associate 21455500, 21691751
Cataract posterior polar 4 Associate 30081747
Charcot Marie Tooth Disease Associate 26492578
Cognition Disorders Associate 33637369
Cognition Disorders Stimulate 36315648
Dystonia Associate 36315648
Genetic Diseases Inborn Associate 26492578
Huntington Disease Associate 24284334