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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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See INF2 in Genome Data Viewer
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

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