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    INF2 inverted formin 2 [ Homo sapiens (human) ]

    Gene ID: 64423, updated on 7-Sep-2023

    Summary

    Official Symbol
    INF2provided by HGNC
    Official Full Name
    inverted formin 2provided by HGNC
    Primary source
    HGNC:HGNC:23791
    See related
    Ensembl:ENSG00000203485 MIM:610982; AllianceGenome:HGNC:23791
    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
    FSGS5; CMTDIE; pp9484; C14orf151; C14orf173
    Summary
    This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]
    Expression
    Ubiquitous expression in fat (RPKM 22.3), stomach (RPKM 20.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See INF2 in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (104689618..104722535)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (98932467..98965414)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105155955..105188872)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105128863-105129362 Neighboring gene long intergenic non-protein coding RNA 2280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105131825-105132587 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105143259-105143816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105143817-105144373 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105147161-105147717 Neighboring gene microRNA 4710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105153949-105154936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105154937-105155926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105159881-105160868 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105167789-105168776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105172789-105173379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105181013-105181952 Neighboring gene skeletal muscle cis-regulatory module in INF2 and ADSSL1 intergenic region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105191613-105192313 Neighboring gene adenylosuccinate synthase 1 Neighboring gene uncharacterized LOC124903396 Neighboring gene uncharacterized LOC107984670

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22056, MGC13251, DKFZp762A0214

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    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 actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within regulation of mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    inverted formin-2
    Names
    HBEAG-binding protein 2 binding protein C
    HBEBP2-binding protein C
    inverted formin, FH2 and WH2 domain containing

    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.

    Genomic

    1. NG_027684.2 RefSeqGene

      Range
      5002..37919
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001031714.4NP_001026884.3  inverted formin-2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing the penultimate coding exon found in variant 1, resulting in a shorter isoform (2) with a different C-terminus compared to isoform 1.
      Source sequence(s)
      AL583722, BG820892, BI489810, BQ961756, BU538960, BX248757, CD631414, DA500952, DQ395338, DQ395340
      Consensus CDS
      CCDS45173.1
      UniProtKB/Swiss-Prot
      Q27J81
      UniProtKB/TrEMBL
      A0A6Q8PHG2
      Related
      ENSP00000376406.3, ENST00000330634.11
      Conserved Domains (3) summary
      pfam06367
      Location:156341
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:14152
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl19758
      Location:554925
      FH2; Formin Homology 2 Domain
    2. NM_022489.4NP_071934.3  inverted formin-2 isoform 1

      See identical proteins and their annotated locations for NP_071934.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL583722, BG820892, BI489810, BQ961756, BU538960, BX248757, CD631414, DA500952, DQ395339, DQ395340
      Consensus CDS
      CCDS9989.2
      UniProtKB/Swiss-Prot
      Q27J81, Q27J83, Q69YL8, Q6P1X7, Q6PK22, Q86TR7, Q9BRM1, Q9H6N1
      UniProtKB/TrEMBL
      A0A6Q8PHG2
      Related
      ENSP00000376410.4, ENST00000392634.9
      Conserved Domains (3) summary
      pfam06367
      Location:156341
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:14152
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl19758
      Location:554925
      FH2; Formin Homology 2 Domain
    3. NM_032714.3NP_116103.1  inverted formin-2 isoform 3

      See identical proteins and their annotated locations for NP_116103.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents use of an alternate 3' terminal exon resulting in a shorter predicted protein (isoform 3) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL583722, BC006173, BI489810
      Consensus CDS
      CCDS41999.1
      UniProtKB/Swiss-Prot
      Q27J81
      UniProtKB/TrEMBL
      A0A6Q8PGX4
      Related
      ENSP00000381380.4, ENST00000398337.8
      Conserved Domains (2) summary
      pfam06367
      Location:156234
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:14152
      Drf_GBD; Diaphanous GTPase-binding Domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      104689618..104722535
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      98932467..98965414
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)