Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

CYFIP2

contributors: mct - updated : 18-12-2018

HGNC name	cytoplasmic FMR1 interacting protein 2
HGNC id	13760

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EIEE65 epileptic encephalopathy, early infantile, 65
Location	5q33.3      Physical location : 156.693.090 - 156.822.604
Synonym name	P53 inducible interacting protein 2
	p53-inducible protein 121
Synonym symbol(s)	CYIP2, KIAA1168, PIR121

DNA

TYPE	functioning gene
STRUCTURE	129.52 kb     31 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   HRE
text structure	promoter contains a TP53-responsive element that confers TP53 binding as well as transcriptional activation of a heterologous reporter

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	variants 1, 2, and 3 all encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001037333 31 - 6498 NP_001032410 145.5 1253 - 2018 29752658 variant 2 - - 6791 145.5 1253 - 2018 29752658 NM_014376 31 - 6625 NP_055191 145.5 1253 - 2018 29752658 NM_001291722 32 - 6574 NP_001278651 - 1278 - 2018 29752658 NM_001291721 30 - 6421 NP_001278650 - 1227 - 2018 29752658

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

intraspecies

homolog to CYFIP1

Homologene

FAMILY

CYFIP family

CATEGORY

DNA associated

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleolus
text	colocalized with FMRP and ribosomes

basic FUNCTION	CYFIP2 could be implicated in the dendritic spine phenotype of fragile X syndrome
	misregulation of CYFIP2 function and its GRM1-induced expression contribute to the neurobehavioral phenotypes of fragile X syndrome
	CYFIP2 is part of the Wiskott-Aldrich syndrome protein-family verprolin-homologous protein complex, which has been implicated in actin polymerization at synapses, a process thought to be required for memory formation
	is a major significant genetic factor underlying binge eating
	CYFIP2 regulates the innate startle threshold by reducing neural activity in a small group of excitatory hindbrain interneurons

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binding to FXR1, FXR2, FMR1
	CYFIP2 is a direct TP53 target gene that may be part of a redundant network of genes responsible for TP53-dependent apoptosis
	NCKAP1 interacts directly with CYFIP2
	NUAK2 may regulate CYFIP2 expression to promote cervical cancer (CC) cell proliferation, migration, invasion and EMT

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE65

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in autism spectrum disorder (ASD) constitutional     --low   reduced CYFIP2 expression triggers a cascade of change towards Alzheimer disease, including amyloid production, tau hyperphosphorylation and memory loss

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	CYFIP2 and RBBP9 are two novel ALS (amyotrophic lateral sclerosis) potential biomarkers in non-neural tissues from ALS patients that may have direct diagnostic and therapeutic implications to the disease
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative alzheimer could be a potential hub for targeting treatment of the disease

ANIMAL & CELL MODELS