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CYFIP2 cytoplasmic FMR1 interacting protein 2 [ Homo sapiens (human) ]

Gene ID: 26999, updated on 1-Mar-2024

Summary

Official Symbol
CYFIP2provided by HGNC
Official Full Name
cytoplasmic FMR1 interacting protein 2provided by HGNC
Primary source
HGNC:HGNC:13760
See related
Ensembl:ENSG00000055163 MIM:606323; AllianceGenome:HGNC:13760
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DEE65; EIEE65; PIR121
Summary
Predicted to enable small GTPase binding activity. Involved in activation of cysteine-type endopeptidase activity; apoptotic process; and cell-cell adhesion. 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, Apr 2022]
Expression
Broad expression in kidney (RPKM 63.0), brain (RPKM 45.0) and 14 other tissues See more
Orthologs
NEW
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Genomic context

See CYFIP2 in Genome Data Viewer
Location:
5q33.3
Exon count:
36
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (157266123..157395594)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (157785054..157914553)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (156693133..156822602)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23501 Neighboring gene golgi associated RAB2 interactor family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23503 Neighboring gene IL2 inducible T cell kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23505 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:156713648-156714148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:156714149-156714649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16558 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:156789204-156789414 Neighboring gene fibronectin type III domain containing 9 Neighboring gene NIPAL4 divergent transcript Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:156817055-156818254 Neighboring gene ribosomal protein L26 pseudogene 18 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16559 Neighboring gene NIPA like domain containing 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 65
MedGen: C4693925 OMIM: 618008 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CYFIP2 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables RNA 7-methylguanosine cap binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in activation of cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in activation of cysteine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell projection assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in dendrite extension IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of neurotrophin TRK receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of actin filament polymerization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of SCAR complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in membrane HDA PubMed 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in synapse IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cytoplasmic FMR1-interacting protein 2
Names
p53-inducible protein 121

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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)

  1. NM_001037333.3NP_001032410.1  cytoplasmic FMR1-interacting protein 2 isoform a

    See identical proteins and their annotated locations for NP_001032410.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) and variant 2 encode the same isoform (a).
    Source sequence(s)
    AC008676, AL136549, BC011762, BG699081
    Consensus CDS
    CCDS75364.1
    UniProtKB/TrEMBL
    B7Z8N7
    Related
    ENSP00000479968.1, ENST00000620254.5
    Conserved Domains (1) summary
    pfam05994
    Location:3881221
    FragX_IP; Cytoplasmic Fragile-X interacting family
  2. NM_001291721.2NP_001278650.1  cytoplasmic FMR1-interacting protein 2 isoform b

    See identical proteins and their annotated locations for NP_001278650.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AC008676, AK303702, AL136549, BC011762, BG699081
    Consensus CDS
    CCDS78078.1
    UniProtKB/TrEMBL
    B7Z8N7, E7EVJ5
    Related
    ENSP00000430904.1, ENST00000521420.5
    Conserved Domains (1) summary
    pfam05994
    Location:3621195
    FragX_IP; Cytoplasmic Fragile-X interacting family
  3. NM_001291722.2NP_001278651.1  cytoplasmic FMR1-interacting protein 2 isoform c

    See identical proteins and their annotated locations for NP_001278651.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (c) is longer than isoform a.
    Source sequence(s)
    AB032994, AC008676, BC011762, BG699081
    Consensus CDS
    CCDS78077.1
    UniProtKB/Swiss-Prot
    A6NLT2, D3DQJ3, Q53EN5, Q96F07, Q9NTK4, Q9ULQ2, Q9UN29
    UniProtKB/TrEMBL
    A0A8V8TNU3
    Related
    ENSP00000479719.1, ENST00000616178.4
    Conserved Domains (2) summary
    pfam05994
    Location:3881246
    FragX_IP; Cytoplasmic Fragile-X interacting family
    pfam07159
    Location:65267
    DUF1394; Protein of unknown function (DUF1394)
  4. NM_014376.4NP_055191.2  cytoplasmic FMR1-interacting protein 2 isoform a

    See identical proteins and their annotated locations for NP_055191.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AC008676, AC009185, AL136549, BC011762
    Consensus CDS
    CCDS75364.1
    UniProtKB/TrEMBL
    B7Z8N7
    Related
    ENSP00000484819.1, ENST00000618329.4
    Conserved Domains (1) summary
    pfam05994
    Location:3881221
    FragX_IP; Cytoplasmic Fragile-X interacting family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    157266123..157395594
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534516.4XP_011532818.1  cytoplasmic FMR1-interacting protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011532818.1

    UniProtKB/TrEMBL
    B7Z8N7
    Conserved Domains (1) summary
    pfam05994
    Location:3881221
    FragX_IP; Cytoplasmic Fragile-X interacting family
  2. XM_047417100.1XP_047273056.1  cytoplasmic FMR1-interacting protein 2 isoform X1

    UniProtKB/TrEMBL
    B7Z8N7
  3. XM_047417101.1XP_047273057.1  cytoplasmic FMR1-interacting protein 2 isoform X2

    UniProtKB/TrEMBL
    B7Z4I3
  4. XM_047417102.1XP_047273058.1  cytoplasmic FMR1-interacting protein 2 isoform X3

    UniProtKB/TrEMBL
    B7Z4I3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    157785054..157914553
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352376.1XP_054208351.1  cytoplasmic FMR1-interacting protein 2 isoform X1

    UniProtKB/TrEMBL
    B7Z8N7
  2. XM_054352377.1XP_054208352.1  cytoplasmic FMR1-interacting protein 2 isoform X2

    UniProtKB/TrEMBL
    B7Z4I3
  3. XM_054352378.1XP_054208353.1  cytoplasmic FMR1-interacting protein 2 isoform X3

    UniProtKB/TrEMBL
    B7Z4I3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001037332.2: Suppressed sequence

    Description
    NM_001037332.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.