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

Gene ID: 26999, updated on 1-Jun-2020

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
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
EIEE65; PIR121
Expression
Broad expression in kidney (RPKM 63.0), brain (RPKM 45.0) and 14 other tissues See more
Orthologs

Genomic context

See CYFIP2 in Genome Data Viewer
Location:
5q33.3
Exon count:
37
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (157266091..157395594)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (156693091..156822606)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 71 member B Neighboring gene IL2 inducible T cell kinase Neighboring gene uncharacterized LOC102724404 Neighboring gene fibronectin type III domain containing 9 Neighboring gene ribosomal protein L26 pseudogene 18 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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
MedGen: C4693925 OMIM: 618008 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT RNA 7-methylguanosine cap binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Fc-gamma receptor signaling pathway involved in phagocytosis TAS
Traceable Author Statement
more info
 
activation of cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activation of cysteine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell projection assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
dendrite extension IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neurotrophin TRK receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
vascular endothelial growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
NOT SCAR complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
membrane HDA PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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/Swiss-Prot
    Q96F07
    Related
    ENSP00000479968.1, ENST00000620254.5
    Conserved Domains (2) summary
    pfam05994
    Location:3881221
    FragX_IP; Cytoplasmic Fragile-X interacting family
    pfam07159
    Location:65267
    DUF1394; Protein of unknown function (DUF1394)
  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/Swiss-Prot
    Q96F07
    UniProtKB/TrEMBL
    B7Z8N7, E7EVJ5
    Related
    ENSP00000430904.1, ENST00000521420.5
    Conserved Domains (2) summary
    pfam05994
    Location:3621195
    FragX_IP; Cytoplasmic Fragile-X interacting family
    pfam07159
    Location:75241
    DUF1394; Protein of unknown function (DUF1394)
  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
    Q96F07
    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/Swiss-Prot
    Q96F07
    Related
    ENSP00000484819.1, ENST00000618329.4
    Conserved Domains (2) summary
    pfam05994
    Location:3881221
    FragX_IP; Cytoplasmic Fragile-X interacting family
    pfam07159
    Location:65267
    DUF1394; Protein of unknown function (DUF1394)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    157266091..157395594
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009342.1XP_016864831.1  cytoplasmic FMR1-interacting protein 2 isoform X2

    Conserved Domains (2) summary
    pfam05994
    Location:3171150
    FragX_IP; Cytoplasmic Fragile-X interacting family
    pfam07159
    Location:30196
    DUF1394; Protein of unknown function (DUF1394)
  2. XM_011534516.3XP_011532818.1  cytoplasmic FMR1-interacting protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011532818.1

    UniProtKB/Swiss-Prot
    Q96F07
    Related
    ENSP00000403793.3, ENST00000435847.6
    Conserved Domains (2) summary
    pfam05994
    Location:3881221
    FragX_IP; Cytoplasmic Fragile-X interacting family
    pfam07159
    Location:65267
    DUF1394; Protein of unknown function (DUF1394)
  3. XM_017009341.1XP_016864830.1  cytoplasmic FMR1-interacting protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96F07
    Conserved Domains (2) summary
    pfam05994
    Location:3881221
    FragX_IP; Cytoplasmic Fragile-X interacting family
    pfam07159
    Location:65267
    DUF1394; Protein of unknown function (DUF1394)

RNA

  1. XR_001742052.2 RNA Sequence

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.
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