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

Gene ID: 26999, updated on 26-May-2016
Official Symbol
CYFIP2provided by HGNC
Official Full Name
cytoplasmic FMR1 interacting protein 2provided by HGNC
Primary source
HGNC:HGNC:13760
See related
Ensembl:ENSG00000055163 HPRD:07556; MIM:606323; Vega:OTTHUMG00000163484
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
PIR121
Orthologs
Location:
5q33.3
Exon count:
35
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (157266080..157395598)
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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
synapse IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
cytoplasmic FMR1-interacting protein 2
Names
CYFIP2
p53-inducible protein 121

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_001037333.2NP_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, OTTHUMP00000275895, ENST00000620254, OTTHUMT00000373717
    Conserved Domains (2) summary
    PLN03099
    Location:51221
    PIR; Protein PIR; Provisional
    pfam05994
    Location:3841223
    FragX_IP; Cytoplasmic Fragile-X interacting family
  2. NM_001291721.1NP_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, OTTHUMP00000224059, ENST00000521420, OTTHUMT00000373710
    Conserved Domains (2) summary
    PLN03099
    Location:771195
    PIR; Protein PIR; Provisional
    pfam05994
    Location:3581197
    FragX_IP; Cytoplasmic Fragile-X interacting family
  3. NM_001291722.1NP_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, OTTHUMP00000275894, ENST00000616178, OTTHUMT00000373712
    Conserved Domains (2) summary
    PLN03099
    Location:51246
    PIR; Protein PIR; Provisional
    pfam05994
    Location:3841248
    FragX_IP; Cytoplasmic Fragile-X interacting family
  4. NM_014376.3NP_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, AL136549, BC011762
    Consensus CDS
    CCDS75364.1
    UniProtKB/Swiss-Prot
    Q96F07
    Related
    ENSP00000484819, OTTHUMP00000275900, ENST00000618329, OTTHUMT00000373711
    Conserved Domains (2) summary
    PLN03099
    Location:51221
    PIR; Protein PIR; Provisional
    pfam05994
    Location:3841223
    FragX_IP; Cytoplasmic Fragile-X interacting family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    157266080..157395598
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534516.1XP_011532818.1  

    See identical proteins and their annotated locations for XP_011532818.1

    UniProtKB/Swiss-Prot
    Q96F07
    Conserved Domains (2) summary
    PLN03099
    Location:51221
    PIR; Protein PIR; Provisional
    pfam05994
    Location:3841223
    FragX_IP; Cytoplasmic Fragile-X interacting family
  2. XM_011534517.1XP_011532819.1  

    Conserved Domains (2) summary
    PLN03099
    Location:11150
    PIR; Protein PIR; Provisional
    pfam05994
    Location:3131152
    FragX_IP; Cytoplasmic Fragile-X interacting family

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    156125747..156255279
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.