Gene
FERMT3
FERM domain containing kindlin 3
- HGNC 23151↗(opens in a new tab)
- Ensembl gene ENSG00000149781↗(opens in a new tab)
- NCBI Gene 83706↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q13.1
- Coordinates
- Chromosome 11: 64,206,721–64,223,891 (GRCh38)
- Exons
- 15 exons across 17.2 kb
- Protein
- 663 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- URP2, KIND3, MIG2B, MGC10966, UNC112C
- MANE Select transcript
- ENST00000345728.10NM_031471.6
- 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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Leukocyte Adhesion Deficiency
- Autosomal recessive
Defective white cell adhesion caused by changes in both copies of ITGB2, SLC35C1 or FERMT3.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Severe forms are treated with stem cell transplantation; type 2 may respond to oral fucose, and antibiotic prophylaxis and dental care reduce infections.
Osteopetrosis
Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How FERMT3 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 2.5 kb of the gene's 17.2 kb; 1,992 of those bases code for the protein.
How a genome test reads FERMT3
20
positions in FERMT3 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 17.2 kb of FERMT3, introns included, not only the 2.5 kb of exons.
Genes linked to the same conditions
- AMER1APC membrane recruitment protein 1Shares 1 condition
- CA2carbonic anhydrase 2Shares 1 condition
- CLCN7Cl-/H+ antiporter 7Shares 1 condition
- CTSKcathepsin KShares 1 condition
- ITGB2integrin subunit beta 2Shares 1 condition
- LRP5LDL receptor related protein 5Shares 1 condition
- LRRK1leucine rich repeat kinase 1Shares 1 condition
- OSTM1osteoclastogenesis associated transmembrane protein 1Shares 1 condition
- PLEKHM1pleckstrin homology and RUN domain containing M1Shares 1 condition
- RASGRP2RAS guanyl releasing protein 2Shares 1 condition
- SLC35C1solute carrier family 35 member C1Shares 1 condition
- SNX10sorting nexin 10Shares 1 condition
Traits linked to FERMT3
The Human Phenotype Ontology lists these as features of the rare conditions FERMT3 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.). FERMT3 gene: FERM domain containing kindlin 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/fermt3
Dante Labs. FERMT3 gene: FERM domain containing kindlin 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/fermt3
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