Gene
INF2
inverted formin 2
- HGNC 23791↗(opens in a new tab)
- Ensembl gene ENSG00000203485↗(opens in a new tab)
- NCBI Gene 64423↗(opens in a new tab)
Summary
- Cytogenetic location
- 14q32.33
- Coordinates
- Chromosome 14: 104,689,618–104,722,535 (GRCh38)
- Exons
- 23 exons across 32.9 kb
- Protein
- 1,249 amino acids
- Also known as
- MGC13251
- Previous symbols
- C14orf151, C14orf173
- MANE Select transcript
- ENST00000392634.9NM_022489.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Focal Segmental Glomerulosclerosis
A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.
- 2 GenCC submitters rate it definitive or strong
Glomerulosclerosis
A hardening of the kidney glomerulus caused by scarring of the blood vessels.
- 2 GenCC submitters rate it definitive or strong
Broader groupings
Charcot-Marie-Tooth Disease
One of 62 genes linked to it
A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features
How INF2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 7.6 kb of the gene's 32.9 kb; 3,750 of those bases code for the protein.
How a genome test reads INF2
39
positions in INF2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 32.9 kb of INF2, introns included, not only the 7.6 kb of exons.
Genes linked to the same conditions
- ACTN4actinin alpha 4Shares 2 conditions
- ANLNanillin, actin binding proteinShares 2 conditions
- CRB2crumbs cell polarity complex component 2Shares 2 conditions
- FAT1FAT atypical cadherin 1Shares 2 conditions
- MYO1Emyosin IEShares 2 conditions
- PAX2paired box 2Shares 2 conditions
- TRPC6transient receptor potential cation channel subfamily C member 6Shares 2 conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- AIFM1apoptosis inducing factor mitochondria associated 1Shares 1 condition
- ATP1A1ATPase Na+/K+ transporting subunit alpha 1Shares 1 condition
- CADM3cell adhesion molecule 3Shares 1 condition
- COX6A1cytochrome c oxidase subunit 6A1Shares 1 condition
Traits linked to INF2
The Human Phenotype Ontology lists these as features of the rare conditions INF2 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). INF2 gene: inverted formin 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/inf2
Dante Labs. INF2 gene: inverted formin 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/inf2
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