Seroatlas · Human Serome Atlas

CYFIP2

Cytoplasmic FMR1-interacting protein 2

Also known as: CYFP2_HUMAN, PIR121

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96F07
Gene: CYFIP2
Ensembl: ENSG00000055163
Chromosome: 5
Canonical length: 1278 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Endoplasmic reticulum,Plasma membrane,Cytosol

OverviewNCBI Gene

Predicted to enable small GTPase binding activity. Involved in several processes, including cell-cell adhesion; positive regulation of proteolysis; and regulation of postsynapse assembly. Located in perinuclear region of cytoplasm and synapse. Part of SCAR complex. Implicated in developmental and epileptic encephalopathy 65. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1278 residues, UniProt reviewed canonical sequence.

>Q96F07|CYFIP2
     1  MTTHVTLEDA LSNVDLLEEL PLPDQQPCIE PPPSSIMYQA NFDTNFEDRN AFVTGIARYI
    61  EQATVHSSMN EMLEEGHEYA VMLYTWRSCS RAIPQVKCNE QPNRVEIYEK TVEVLEPEVT
   121  KLMKFMYFQR KAIERFCSEV KRLCHAERRK DFVSEAYLLT LGKFINMFAV LDELKNMKCS
   181  VKNDHSAYKR AAQFLRKMAD PQSIQESQNL SMFLANHNRI TQCLHQQLEV IPGYEELLAD
   241  IVNICVDYYE NKMYLTPSEK HMLLKVMGFG LYLMDGNVSN IYKLDAKKRI NLSKIDKFFK
   301  QLQVVPLFGD MQIELARYIK TSAHYEENKS KWTCTQSSIS PQYNICEQMV QIRDDHIRFI
   361  SELARYSNSE VVTGSGLDSQ KSDEEYRELF DLALRGLQLL SKWSAHVMEV YSWKLVHPTD
   421  KFCNKDCPGT AEEYERATRY NYTSEEKFAF VEVIAMIKGL QVLMGRMESV FNQAIRNTIY
   481  AALQDFAQVT LREPLRQAVR KKKNVLISVL QAIRKTICDW EGGREPPNDP CLRGEKDPKG
   541  GFDIKVPRRA VGPSSTQACQ WSPRALFHPT GGTQGRRGCR SLLYMVRTML ESLIADKSGS
   601  KKTLRSSLDG PIVLAIEDFH KQSFFFTHLL NISEALQQCC DLSQLWFREF FLELTMGRRI
   661  QFPIEMSMPW ILTDHILETK EPSMMEYVLY PLDLYNDSAY YALTKFKKQF LYDEIEAEVN
   721  LCFDQFVYKL ADQIFAYYKA MAGSVLLDKR FRAECKNYGV IIPYPPSNRY ETLLKQRHVQ
   781  LLGRSIDLNR LITQRISAAM YKSLDQAISR FESEDLTSIV ELEWLLEINR LTHRLLCKHM
   841  TLDSFDAMFR EANHNVSAPY GRITLHVFWE LNFDFLPNYC YNGSTNRFVR TAIPFTQEPQ
   901  RDKPANVQPY YLYGSKPLNI AYSHIYSSYR NFVGPPHFKT ICRLLGYQGI AVVMEELLKI
   961  VKSLLQGTIL QYVKTLIEVM PKICRLPRHE YGSPGILEFF HHQLKDIIEY AELKTDVFQS
  1021  LREVGNAILF CLLIEQALSQ EEVCDLLHAA PFQNILPRVY IKEGERLEVR MKRLEAKYAP
  1081  LHLVPLIERL GTPQQIAIAR EGDLLTKERL CCGLSMFEVI LTRIRSYLQD PIWRGPPPTN
  1141  GVMHVDECVE FHRLWSAMQF VYCIPVGTNE FTAEQCFGDG LNWAGCSIIV LLGQQRRFDL
  1201  FDFCYHLLKV QRQDGKDEII KNVPLKKMAD RIRKYQILNN EVFAILNKYM KSVETDSSTV
  1261  EHVRCFQPPI HQSLATTC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYFIP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 131 nTPM

Expression across tissuesHPA

Tissue

kidney: 131 nTPM
cerebral cortex: 82 nTPM
thymus: 80 nTPM
cerebellum: 70 nTPM
parathyroid gland: 61 nTPM
basal ganglia: 59 nTPM

Single-cell type

neutrophils: 607 nCPM
loop of henle epithelial cells: 520 nCPM
neutrophil progenitors: 423 nCPM
distal convoluted tubule cells: 404 nCPM
renal collecting duct principal cells: 364 nCPM
thymocytes: 273 nCPM

Immune cell

non-classical monocyte: 134 nTPM
eosinophil: 90 nTPM
gdT-cell: 86 nTPM
total PBMC: 78 nTPM
memory CD8 T-cell: 76 nTPM
naive CD8 T-cell: 73 nTPM

Brain region

hippocampal formation: 395 nTPM
cerebral cortex: 371 nTPM
thalamus: 302 nTPM
amygdala: 285 nTPM
basal ganglia: 253 nTPM
white matter: 229 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CYFIP2.

Disease | AllUniProt

Conditions CYFIP2 is implicated in, by any mechanism.

Developmental and epileptic encephalopathy 65 (DEE65) MIM:618008

Disease | GeneticClinVar

22 pathogenic / likely-pathogenic of 1,133 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Developmental and epileptic encephalopathy, 65
Seizure
Inborn genetic diseases
CYFIP2-related disorder
Intellectual disability

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.09
gnomAD pLI: 1
gnomAD missense Z: 6.01

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

small GTPase binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CYFIP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CYFIP2 as an antibody target. Whether an autoantibody or antibody against CYFIP2 could matter depends on whether native CYFIP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CYFIP2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CYFIP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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