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    INF2 inverted formin 2 [ Homo sapiens (human) ]

    Gene ID: 64423, updated on 3-Apr-2024

    Summary

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    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
    mouse all
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    Genomic context

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    Location:
    14q32.33
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (104689618..104722535)
    RS_2023_10 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 ATAC-STARR-seq lymphoblastoid silent region 6188 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 ATAC-STARR-seq lymphoblastoid silent region 6189 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105147161-105147717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9120 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 ATAC-STARR-seq lymphoblastoid silent region 6192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6191 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6193 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105159881-105160868 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105161956-105162147 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105167789-105168776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105172789-105173379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105181013-105181952 Neighboring gene skeletal muscle cis-regulatory module in INF2 and ADSSL1 intergenic region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6195 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis. Park JH, et al. J Peripher Nerv Syst, 2023 Mar. PMID 36637069
    2. Role of formin INF2 in human diseases. Zhao Y, et al. Mol Biol Rep, 2022 Jan. PMID 34698992
    3. Steroid Resistant Nephrotic Syndrome with Clumsy Gait Associated With INF2 Mutation. Sinha R, et al. Indian Pediatr, 2020 Aug 15. PMID 32844773
    4. FSGS-Causing INF2 Mutation Impairs Cleaved INF2 N-Fragment Functions in Podocytes. Subramanian B, et al. J Am Soc Nephrol, 2020 Feb. PMID 31924668, Free PMC Article
    5. [Analysis of a pedigree with autosomal dominant intermediate Charcot-Marie-Tooth disease type E and nephropathy]. Fu J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2019 Sep 10. PMID 31515790

    See all (106) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phosphorylation of INF2 by AMPK promotes mitochondrial fission and oncogenic function in endometrial cancer.
      Title: Phosphorylation of INF2 by AMPK promotes mitochondrial fission and oncogenic function in endometrial cancer.
    2. FBXO7, a tumor suppressor in endometrial carcinoma, suppresses INF2-associated mitochondrial division.
      Title: FBXO7, a tumor suppressor in endometrial carcinoma, suppresses INF2-associated mitochondrial division.
    3. INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
      Title: INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
    4. Role of formin INF2 in human diseases.
      Title: Role of formin INF2 in human diseases.
    5. Steroid Resistant Nephrotic Syndrome with Clumsy Gait Associated With INF2 Mutation.
      Title: Steroid Resistant Nephrotic Syndrome with Clumsy Gait Associated With INF2 Mutation.
    6. Multiple formin proteins participate in glioblastoma migration.
      Title: Multiple formin proteins participate in glioblastoma migration.
    7. FSGS-Causing INF2 Mutation Impairs Cleaved INF2 N-Fragment Functions in Podocytes.
      Title: FSGS-Causing INF2 Mutation Impairs Cleaved INF2 N-Fragment Functions in Podocytes.
    8. Study used lysine-to-glutamine mutations to map the relevant lysines on actin for INF2 regulation. K50Q- and K61Q-actin, when bound to CAP2, inhibit full-length INF2 but not INF2 lacking inhibitory domain (DID). CAP WH2 domain binds INF2-DID with submicromolar affinity but has weak affinity for actin monomers, while INF2-C-terminal diaphanous autoregulatory domain binds CAP/K50Q-actin 5-fold better than CAP/WT-actin.
      Title: Regulation of INF2-mediated actin polymerization through site-specific lysine acetylation of actin itself.
    9. our results indicated that oxidative stress-mediated HaCaT cells apoptosis could be reversed by Tan IIA treatment via reducing INF2-related mitochondrial stress in a manner dependent on the ERK signaling pathway.
      Title: Inhibitory effect of Tanshinone IIA on inverted formin-2 protects HaCaT cells against oxidative injury via regulating mitochondrial stress.
    10. The phenotypic feature of the pedigree is autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis, which may be attributed to the c.341G>A mutation of the INF2 gene.
      Title: [Analysis of a pedigree with autosomal dominant intermediate Charcot-Marie-Tooth disease type E and nephropathy].
    Submit: New GeneRIF Correction See all GeneRIFs (42)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Charcot-Marie-Tooth disease dominant intermediate E
    MedGen: C4302667 OMIM: 614455 GeneReviews: Not available
    		Compare labs
    Focal segmental glomerulosclerosis 5
    MedGen: C2750475 OMIM: 613237 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    		  
    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
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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)

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    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_001031714.4 → NP_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. Variants 2 and 7 both encode the same isoform (2).
      Source sequence(s)
      AL583722, BG820892, BI489810, BQ961756, BU538960, BX248757, CD631414, DA500952, DQ395338, DQ395340
      Consensus CDS
      CCDS45173.1
      UniProtKB/TrEMBL
      A0A6Q8PHG2
      Related
      ENSP00000376406.3, ENST00000330634.11
      Conserved Domains (3) summary
      pfam06367
      Location:156 → 341
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:14 → 152
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl19758
      Location:554 → 925
      FH2; Formin Homology 2 Domain

    2. NM_001426862.1 → NP_001413791.1  inverted formin-2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (4).
      Source sequence(s)
      AL583722

    3. NM_001426863.1 → NP_001413792.1  inverted formin-2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL583722
      UniProtKB/Swiss-Prot
      Q27J81, Q27J83, Q69YL8, Q6P1X7, Q6PK22, Q86TR7, Q9BRM1, Q9H6N1

    4. NM_001426864.1 → NP_001413793.1  inverted formin-2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL583722
      UniProtKB/Swiss-Prot
      Q27J81, Q27J83, Q69YL8, Q6P1X7, Q6PK22, Q86TR7, Q9BRM1, Q9H6N1

    5. NM_001426865.1 → NP_001413794.1  inverted formin-2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL583722

    6. NM_001426866.1 → NP_001413795.1  inverted formin-2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL583722

    7. NM_001426867.1 → NP_001413796.1  inverted formin-2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL583722

    8. NM_001426868.1 → NP_001413797.1  inverted formin-2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL583722

    9. NM_022489.4 → NP_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 isoform 1. Variants 1, 5, and 6 all encode the same 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:156 → 341
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:14 → 152
      Drf_GBD; Diaphanous GTPase-binding Domain
      cl19758
      Location:554 → 925
      FH2; Formin Homology 2 Domain

    10. NM_032714.3 → NP_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. Variants 3, 8, 9, and 10 all encode the same isoform (3).
      Source sequence(s)
      AL583722, BC006173, BI489810
      Consensus CDS
      CCDS41999.1
      UniProtKB/TrEMBL
      A0A6Q8PGX4
      Related
      ENSP00000381380.4, ENST00000398337.8
      Conserved Domains (2) summary
      pfam06367
      Location:156 → 234
      Drf_FH3; Diaphanous FH3 Domain
      pfam06371
      Location:14 → 152
      Drf_GBD; Diaphanous GTPase-binding Domain

    RNA

    1. NR_190061.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL583722

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q27J81.2 GenPept UniProtKB/Swiss-Prot:Q27J81

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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