Gene
FOCAD
focadhesin
- HGNC 23377↗(opens in a new tab)
- Ensembl gene ENSG00000188352↗(opens in a new tab)
- NCBI Gene 54914↗(opens in a new tab)
Summary
- Cytogenetic location
- 9p21.3
- Coordinates
- Chromosome 9: 20,684,259–20,995,950 (GRCh38)
- Exons
- 44 exons across 311.7 kb
- Protein
- 1,801 amino acids
- Also known as
- FLJ20375
- Previous symbols
- KIAA1797
- MANE Select transcript
- ENST00000338382.11NM_001375567.1
- 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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No Genome Test report reads FOCAD yet. The test sequences your whole genome, so your data includes it all the same.
How FOCAD 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 5.8 kb of the gene's 311.7 kb; 5,406 of those bases code for the protein.
How a genome test reads FOCAD
6
positions in FOCAD 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 311.7 kb of FOCAD, introns included, not only the 5.8 kb of exons.
Traits linked to FOCAD
The Human Phenotype Ontology lists these as features of the rare conditions FOCAD can cause. Each trait's page lists the other genes linked to it.
Abnormality of the digestive system
- Abdominal bloating
- Abnormal hepatic echogenicity
- Diarrhea
- Enlarged liver
- Feeding difficulties
- Impaired release of bile from liver
- Inguinal hernia
- Jaundice
Show 14 more traits
- Liver failure
- Umbilical hernia
- Accumulation of fluid in the abdomen
- Ballooning hepatocyte degeneration
- Biliary hyperplasia
- Chronic gastritis
- Dependency on parenteral nutrition
- Inability to properly digest food due to lack of pancreatic digestive enzymes
- Malnutrition
- Peritonitis
- Portal inflammation
- Protein-losing enteropathy
- Underdeveloped pancreas
- Vomiting
Laboratory abnormality
- Elevated circulating alpha-fetoprotein concentration
- Elevated serum ferritin
- High blood bilirubin levels
- High liver enzymes
- Hyperinsulinemic hypoglycemia
- Abnormal urinary amino-acid findings
- Alpha-aminobutyric aciduria
- Decreased protein levels in blood
Show 13 more traits
- Deficient in vitamin D
- Episodic fever
- Excess fluid in lungs
- Fatty infiltration of liver
- High blood ammonia levels
- Increased blood alanine
- Increased hepatic glycogen content
- Increased iron concentration in liver
- Low blood calcium levels
- Low blood sodium levels
- Metabolic acidosis
- Vitamin A deficiency
- Vitamin E deficiency
Abnormality of the cardiovascular system
- Increased spleen size
- Abnormal left ventricular function
- An opening in the wall separating the top two chambers of the heart
- Dilatation of the ventricular cavity
- Enlarged heart
- Hole in heart wall separating two lower heart chambers
- Left atrial enlargement
- Narrowing of blood vessel below aortic heart valve
Show 3 more traits
Abnormality of the nervous system
- Delayed CNS myelination
- Delayed speech and language development
- Elevated brain N-acetyl aspartate level by MRS
- Hepatic encephalopathy
- Inappropriate crying
- Irritability
- Neurodevelopmental delay
- Poor fine motor coordination
Show 1 more trait
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.
- 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.). FOCAD gene: focadhesin. Retrieved 17 October 2026, from https://dantelabs.com/genes/focad
Dante Labs. FOCAD gene: focadhesin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/focad
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