Gene Gene information from NCBI Gene database.
Entrez ID 23503
Gene name Zinc finger FYVE-type containing 26
Gene symbol ZFYVE26
Synonyms (NCBI Gene)
FYVE-CENTSPG15
Chromosome 14
Chromosome location 14q24.1
Summary 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.
85
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.
726
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612012 20761 ENSG00000072121
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3002
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal central motor function Likely pathogenic rs2140185428, rs2140194241, rs2140260770 RCV001814497
RCV001814420
RCV001814372
Atypical behavior Pathogenic rs558285072 RCV001730704
Cervical cancer Likely pathogenic rs760001730 RCV005901515
Congenital myopathy Pathogenic rs750665937 RCV005626841
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign; Benign rs115187520, rs17104663, rs17104689, rs3742884, rs76728509 RCV005916016
RCV005925215
RCV005889400
RCV005889410
RCV005895355
Adrenocortical carcinoma, hereditary Benign; Likely benign rs149276487 RCV005893281
Clear cell carcinoma of kidney Benign; Likely benign; Conflicting classifications of pathogenicity rs3742884, rs76728509, rs34082929 RCV005889414
RCV005895359
RCV005902005
Colon adenocarcinoma Benign; Likely benign; Conflicting classifications of pathogenicity rs3742884, rs76728509, rs140756827 RCV005889409
RCV005895354
RCV005895852
Associations from Text MiningDisease 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