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PFN2 profilin 2 [ Homo sapiens (human) ]

Gene ID: 5217, updated on 5-Apr-2020

Summary

Official Symbol
PFN2provided by HGNC
Official Full Name
profilin 2provided by HGNC
Primary source
HGNC:HGNC:8882
See related
Ensembl:ENSG00000070087 MIM:176590
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PFL; D3S1319E
Summary
The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 148.4), thyroid (RPKM 50.8) and 19 other tissues See more
Orthologs

Genomic context

See PFN2 in Genome Data Viewer
Location:
3q25.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (149964904..149970895, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (149682691..149688741, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ring finger protein 13 Neighboring gene nucleophosmin 1 pseudogene 29 Neighboring gene uncharacterized LOC105374152 Neighboring gene uncharacterized LOC646903 Neighboring gene transmembrane protein 183B

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat downregulates the expression of profilin 2 (PFN2) in human primary T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin monomer binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
postsynapse IEA
Inferred from Electronic Annotation
more info
 
presynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
profilin-2
Names
profilin II

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.

Genomic

  1. NG_029114.1 RefSeqGene

    Range
    5060..11051
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002628.5NP_002619.1  profilin-2 isoform b

    See identical proteins and their annotated locations for NP_002619.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal segment in the 3' region including 3' coding region and 3' UTR, resulting in a downstream stop codon and a shorter 3' UTR, as compared to variant 1. The encoded isoform (b) is the same length but has a different C-terminus compared to isoform a.
    Source sequence(s)
    BC043646, L10678
    Consensus CDS
    CCDS46934.1
    UniProtKB/Swiss-Prot
    P35080
    Related
    ENSP00000410464.2, ENST00000452853.6
    Conserved Domains (1) summary
    smart00392
    Location:2139
    PROF; Profilin
  2. NM_053024.4NP_444252.1  profilin-2 isoform a

    See identical proteins and their annotated locations for NP_444252.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes isoform a.
    Source sequence(s)
    BC043646
    Consensus CDS
    CCDS3148.1
    UniProtKB/Swiss-Prot
    P35080
    Related
    ENSP00000239940.7, ENST00000239940.11
    Conserved Domains (1) summary
    smart00392
    Location:2140
    PROF; Profilin

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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    149964904..149970895 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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