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PFN2 profilin 2 [ Homo sapiens (human) ]

Gene ID: 5217, updated on 7-Oct-2018

Summary

Official Symbol
PFN2provided by HGNC
Official Full Name
profilin 2provided by HGNC
Primary source
HGNC:HGNC:8882
See related
Ensembl:ENSG00000070087 MIM:176590; Vega:OTTHUMG00000159683
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 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (149964904..149970954, 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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

Pathways from BioSystems

  • Association Between Physico-Chemical Features and Toxicity Associated Pathways, organism-specific biosystem (from WikiPathways)
    Association Between Physico-Chemical Features and Toxicity Associated Pathways, organism-specific biosystemThis pathway is based on Figure 8 of "Mapping drug physico-chemical features to pathway activity reveals molecular networks linked to toxicity outcome."(See bibliography). These 3 pathways demonstr...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton
  • Salmonella infection, organism-specific biosystem (from KEGG)
    Salmonella infection, organism-specific biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
  • Salmonella infection, conserved biosystem (from KEGG)
    Salmonella infection, conserved biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
  • Shigellosis, organism-specific biosystem (from KEGG)
    Shigellosis, organism-specific biosystemShigellosis, or bacillary dysentery, is an intestinal infection caused by Shigella, a genus of enterobacteria. Shigella are potential food-borne pathogens that are capable of colonizing the intestina...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • Signaling by Robo receptor, organism-specific biosystem (from REACTOME)
    Signaling by Robo receptor, organism-specific biosystemThe Roundabout (Robo) family encodes transmembrane receptors that regulate axonal guidance and cell migration. The major function of the Robo receptors is to mediate repulsion of the navigating growt...

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
    5001..11051
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002628.4NP_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, OTTHUMP00000216339, ENST00000452853.6, OTTHUMT00000357088
    Conserved Domains (1) summary
    smart00392
    Location:2139
    PROF; Profilin
  2. NM_053024.3NP_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, OTTHUMP00000216204, ENST00000239940.11, OTTHUMT00000356873
    Conserved Domains (1) summary
    smart00392
    Location:2140
    PROF; Profilin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    149964904..149970954 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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