WDFY2 WD repeat and FYVE domain containing 2 [Homo sapiens] - Gene

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Summary

Official Symbol: WDFY2provided by HGNC
Official Full Name: WD repeat and FYVE domain containing 2provided by HGNC
Primary source: HGNC:20482
See related: Ensembl:ENSG00000139668; HPRD:18294; MIM:610418; Vega:OTTHUMG00000017407
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PROF; WDF2; ZFYVE22; RP11-147H23.1
Summary: This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 13q14.3

Sequence :: Chromosome: 13; NC_000013.10 (52158484..52336171)

See WDFY2 in Epigenomics, MapViewer

Chromosome 13 - NC_000013.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

presence of ProF increases the PKCzeta-dependent phosphorylation of VAMP2 in vitro
Title: WD-repeat-propeller-FYVE protein, ProF, binds VAMP2 and protein kinase Czeta.
WDFY2, the WD40 and FYVE domain containing protein 2, has roles in endocytosis
Title: The WD40 and FYVE domain containing protein 2 defines a class of early endosomes necessary for endocytosis.
The ProF protein partially co-localizes with EEA1 on vesicular structures and binds to the protein kinases Akt and PKCzeta/lambda (protein kinase Czeta/lambda) via its WD-repeat propeller.
Title: A WD-FYVE protein binds to the kinases Akt and PKCzeta/lambda.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Function	Evidence Code	Pubs
metal ion binding	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: WD repeat and FYVE domain-containing protein 2

Names: WD repeat and FYVE domain-containing protein 2; propeller-FYVE protein; WD40 and FYVE domain containing 2; WD40- and FYVE domain-containing protein 2; zinc finger FYVE domain-containing protein 22

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_052950.3 → NP_443182.1 WD repeat and FYVE domain-containing protein 2

Status: REVIEWED

Source sequence(s)

AL136525, BC014004, DA124107

Consensus CDS

CCDS9429.1

UniProtKB/Swiss-Prot

Q96P53

Related

ENSP00000298125, OTTHUMP00000018795, ENST00000298125, OTTHUMT00000045985

Conserved Domains (3) summary

cd00065
Location:283 – 350
Blast Score: 177

FYVE; FYVE domain; Zinc-binding domain; targets proteins to membrane lipids via interaction with phosphatidylinositol-3-phosphate, PI3P; present in Fab1, YOTB, Vac1, and EEA1;

smart00064
Location:279 – 349
Blast Score: 193

FYVE; Protein present in Fab1, YOTB, Vac1, and EEA1

cl02567
Location:16 – 275
Blast Score: 252

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000013.10 Reference GRCh37.p5 Primary Assembly

Range

52158484..52336171

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000145.1 Alternate HuRef

Range

32948174..33125829

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL136525.17	CAH70585.1
genomic	AL139183.8	CAH73431.1
genomic	CH471075.1	EAX08883.1
mRNA	AF411978.1	AAL04162.1
mRNA	AK058149.1	BAB71687.1
mRNA	AK093224.1	None
mRNA	AK309815.1	None
mRNA	AK311177.1	None
mRNA	BC014004.2	AAH14004.1
mRNA	DA124107.1	None
other-genetic	HQ448154.1	ADQ32635.1