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INF2 inverted formin, FH2 and WH2 domain containing [ Homo sapiens (human) ]

Gene ID: 64423, updated on 7-Dec-2014
Official Symbol
INF2provided by HGNC
Official Full Name
inverted formin, FH2 and WH2 domain containingprovided by HGNC
Primary source
HGNC:HGNC:23791
Locus tag
hCG_2029577
See related
Ensembl:ENSG00000203485; HPRD:08648; MIM:610982; Vega:OTTHUMG00000029811
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]
See INF2 in Epigenomics, MapViewer
Location:
14q32.33
Exon count:
24
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 14 NC_000014.9 (104689606..104719610)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105147902..105185947)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929949 Neighboring gene microRNA 4710 Neighboring gene uncharacterized LOC100996409 Neighboring gene adenylosuccinate synthase like 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ22056, MGC13251, DKFZp762A0214

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rho GTPase binding IEA
Inferred from Electronic Annotation
more info
 
actin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
regulation of cellular component size IEA
Inferred from Electronic Annotation
more info
 
regulation of mitochondrial fission IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
inverted formin-2
Names
inverted formin-2
HBEBP2-binding protein C
HBEAG-binding protein 2 binding protein C

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_027684.1 

    Range
    5001..35005
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001031714.3NP_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
    Conserved Domains (4) summary
    pfam02181
    Location:554925
    FH2; Formin Homology 2 Domain
    pfam02205
    Location:974990
    WH2; WH2 motif
    pfam06367
    Location:156343
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:14152
    Drf_GBD; Diaphanous GTPase-binding Domain
  2. NM_022489.3NP_071934.3  inverted formin-2 isoform 1

    See proteins identical to 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
    Related
    ENSP00000376410, OTTHUMP00000028410, ENST00000392634, OTTHUMT00000074371
    Conserved Domains (4) summary
    pfam02181
    Location:554925
    FH2; Formin Homology 2 Domain
    pfam02205
    Location:974990
    WH2; WH2 motif
    pfam06367
    Location:156343
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:14152
    Drf_GBD; Diaphanous GTPase-binding Domain
  3. NM_032714.2NP_116103.1  inverted formin-2 isoform 3

    See proteins identical to 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
    Related
    ENSP00000381380, OTTHUMP00000197011, ENST00000398337, OTTHUMT00000317473
    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: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

    Range
    104689606..104719610
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268004.2XP_005268061.1  

    Conserved Domains (4) summary
    pfam02181
    Location:586957
    FH2; Formin Homology 2 Domain
    pfam02205
    Location:10061022
    WH2; WH2 motif
    pfam06367
    Location:188375
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:32184
    Drf_GBD; Diaphanous GTPase-binding Domain
  2. XM_005268005.2XP_005268062.1  

    Conserved Domains (4) summary
    pfam02181
    Location:586957
    FH2; Formin Homology 2 Domain
    pfam02205
    Location:10061022
    WH2; WH2 motif
    pfam06367
    Location:188375
    Drf_FH3; Diaphanous FH3 Domain
    pfam06371
    Location:32184
    Drf_GBD; Diaphanous GTPase-binding Domain

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

    Range
    105093644..105123708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000146.1 

    Range
    85353176..85383080
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)