Inf2 inverted formin, FH2 and WH2 domain containing [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Inf2provided by MGI
Official Full Name: inverted formin, FH2 and WH2 domain containingprovided by MGI
Primary source: MGI:MGI:1917685
See related: Ensembl:ENSMUSG00000037679 AllianceGenome:MGI:1917685
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: EG629699; 2610204M08Rik
Summary: Predicted to enable actin binding activity and small GTPase binding activity. Acts upstream of or within regulation of cellular component size. Predicted to be located in perinuclear region of cytoplasm. Is expressed in several structures, including adipose tissue; alimentary system; hemolymphoid system; nervous system; and reproductive system. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease dominant intermediate E and focal segmental glomerulosclerosis 5. Orthologous to human INF2 (inverted formin 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in cortex adult (RPKM 15.2), frontal lobe adult (RPKM 13.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12; 12 F1

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (112555121..112581991)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (112588744..112615557)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dysregulated Dynein-Mediated Trafficking of Nephrin Causes INF2-related Podocytopathy.
Title: Dysregulated Dynein-Mediated Trafficking of Nephrin Causes INF2-related Podocytopathy.
we purified an INF2 inhibitor from mouse brain tissue, and identified it as a complex of lysine-acetylated actin (KAc-actin) and cyclase-associated protein (CAP). Inhibition of INF2 by CAP-KAc-actin is dependent on the INF2 diaphanous inhibitory domain (DID).
Title: A complex containing lysine-acetylated actin inhibits the formin INF2.
the pathogenesis of cerebral ischemia-reperfusion injury is associated with Nurr1 upregulation followed by augmented mitochondrial fission via an abnormal YAP-INF2 pathways
Title: Nurr1 exacerbates cerebral ischemia-reperfusion injury via modulating YAP-INF2-mitochondrial fission pathways.
These data support a critical regulatory role for INF2 in trophoblast invasion-a necessary process for placentation.
Title: Inverted formin 2 regulates intracellular trafficking, placentation, and pregnancy outcome.
In mice, normal INF2 function is not required for glomerular development but normal INF2 is required for regulation of the actin-based behaviors necessary for response to and/or recovery from injury.
Title: Mice with mutant Inf2 show impaired podocyte and slit diaphragm integrity in response to protamine-induced kidney injury.
Data highlight a unique mechanism of formin action in which mDia1 and INF2 function in series to stabilize MTs and point to IQGAP1 as a scaffold that facilitates the activation of one formin by another.
Title: An mDia1-INF2 formin activation cascade facilitated by IQGAP1 regulates stable microtubules in migrating cells.
The perinuclear actin rim structure colocalized with INF2 on stimulation, and INF2 depletion resulted in attenuation of the rim formation.
Title: Mechanical stimulation induces formin-dependent assembly of a perinuclear actin rim.
Splice variant-specific cellular function of the formin INF2 in maintenance of Golgi architecture.
Title: Splice variant-specific cellular function of the formin INF2 in maintenance of Golgi architecture.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124972 (e-PCR)
- UniSTS:161794

AW125550 (e-PCR)
- UniSTS:165852

Homology

Homologs of the Inf2 gene: The Inf2 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, and chicken.
Orthologs from Annotation Pipeline: 380 organisms have orthologs with human gene Inf2
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in cellular component organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of cellular component size	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of mitochondrial fission	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: inverted formin-2

Names: formin, inverted

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.

mRNA and Protein(s)

NM_001374199.1 → NP_001361128.1 inverted formin-2 isoform 2

Status: VALIDATED

Source sequence(s)

AC124373

Conserved Domains (5) summary

smart00246
Location:1005 → 1020

WH2; Wiskott Aldrich syndrome homology region 2

PHA03307
Location:1034 → 1262

PHA03307; transcriptional regulator ICP4; Provisional

pfam06367
Location:156 → 341

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:14 → 152

Drf_GBD; Diaphanous GTPase-binding Domain

cl19758
Location:587 → 951

FH2; Formin Homology 2 Domain
NM_198411.2 → NP_940803.2 inverted formin-2 isoform 1

Status: VALIDATED

Source sequence(s)

AC124373, BC060610, BC115422, BY330473, BY335782, CD347830

Consensus CDS

CCDS36571.1

UniProtKB/Swiss-Prot

Q0GNC1

UniProtKB/TrEMBL

E9QLA5

Related

ENSMUSP00000098591.3, ENSMUST00000101029.4

Conserved Domains (5) summary

smart00246
Location:1005 → 1020

WH2; Wiskott Aldrich syndrome homology region 2

PHA03307
Location:1034 → 1259

PHA03307; transcriptional regulator ICP4; Provisional

pfam06367
Location:156 → 341

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:14 → 152

Drf_GBD; Diaphanous GTPase-binding Domain

cl19758
Location:587 → 951

FH2; Formin Homology 2 Domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000078.7 Reference GRCm39 C57BL/6J

Range

112555121..112581991

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030246906.2 → XP_030102766.1 inverted formin-2 isoform X2

Conserved Domains (5) summary

smart00246
Location:1005 → 1020

WH2; Wiskott Aldrich syndrome homology region 2

PHA03307
Location:1034 → 1278

PHA03307; transcriptional regulator ICP4; Provisional

pfam06367
Location:156 → 341

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:14 → 152

Drf_GBD; Diaphanous GTPase-binding Domain

cl19758
Location:587 → 951

FH2; Formin Homology 2 Domain
XM_030246905.2 → XP_030102765.1 inverted formin-2 isoform X1

Conserved Domains (5) summary

smart00246
Location:1005 → 1020

WH2; Wiskott Aldrich syndrome homology region 2

PHA03307
Location:1034 → 1278

PHA03307; transcriptional regulator ICP4; Provisional

pfam06367
Location:156 → 341

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:14 → 152

Drf_GBD; Diaphanous GTPase-binding Domain

cl19758
Location:587 → 951

FH2; Formin Homology 2 Domain
XM_030246907.2 → XP_030102767.1 inverted formin-2 isoform X3

Conserved Domains (5) summary

smart00246
Location:1005 → 1020

WH2; Wiskott Aldrich syndrome homology region 2

PHA03307
Location:1026 → 1251

PHA03307; transcriptional regulator ICP4; Provisional

pfam06367
Location:156 → 341

Drf_FH3; Diaphanous FH3 Domain

pfam06371
Location:14 → 152

Drf_GBD; Diaphanous GTPase-binding Domain

cl19758
Location:587 → 951

FH2; Formin Homology 2 Domain
XM_030246909.2 → XP_030102769.1 inverted formin-2 isoform X4

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:587 → 743

FH2; Formin Homology 2 Domain
XM_030246910.2 → XP_030102770.1 inverted formin-2 isoform X5

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:587 → 743

FH2; Formin Homology 2 Domain
XM_036157610.1 → XP_036013503.1 inverted formin-2 isoform X6

Conserved Domains (3) summary

PHA03307
Location:346 → 574

PHA03307; transcriptional regulator ICP4; Provisional

cd22061
Location:309 → 338

WH2_INF2; Wiskott Aldrich syndrome homology region 2 (WH2 motif) found in Inverted formin-2 (INF2)

cl19758
Location:1 → 263

FH2; Formin Homology 2 Domain