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

Gene ID: 64423, updated on 12-Oct-2019

Summary

Official Symbol
INF2provided by HGNC
Official Full Name
inverted formin, FH2 and WH2 domain containingprovided by HGNC
Primary source
HGNC:HGNC:23791
See related
Ensembl:ENSG00000203485 MIM:610982
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

Genomic context

See INF2 in Genome Data Viewer
Location:
14q32.33
Exon count:
23
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (104689606..104722535)
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 long intergenic non-protein coding RNA 2280 Neighboring gene microRNA 4710 Neighboring gene skeletal muscle cis-regulatory module in INF2 and ADSSL1 intergenic region Neighboring gene adenylosuccinate synthase 1 Neighboring gene uncharacterized LOC107984670 Neighboring gene uncharacterized LOC107987209 Neighboring gene SIVA1 apoptosis inducing factor

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 mitochondrial fission IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
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

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_027684.1 RefSeqGene

    Range
    5001..35005
    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
    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
    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_032714.2NP_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
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    104689606..104722535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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