Gene
USH1G
USH1 protein network component sans
- HGNC 16356(opens in a new tab)
- Ensembl gene ENSG00000182040(opens in a new tab)
- NCBI Gene 124590(opens in a new tab)
Summary
- Cytogenetic location
- 17q25.1
- Coordinates
- Chromosome 17: 74,916,083–74,923,255 (GRCh38)
- Exons
- 3 exons across 7.2 kb
- Protein
- 461 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- Sans, FLJ33924, ANKS4A
- MANE Select transcript
- ENST00000614341.5NM_173477.5
- 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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Usher Syndrome
- Autosomal recessive
A group of recessive conditions (types 1 to 4) causing sensorineural hearing loss, progressive retinitis pigmentosa and, in some types, balance problems, linked to genes such as USH2A, MYO7A, CDH23, PCDH15, USH1C, USH1G, ADGRV1, WHRN, CLRN1 and ARSG.
- 5 GenCC submitters rate it definitive or strong
What knowing changes
An early diagnosis helps with decisions about the timing of cochlear implants, eye monitoring and eligibility for retinal therapy trials, and is relevant to carrier screening.
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 USH1G is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 3.6 kb of the gene's 7.2 kb; 1,386 of those bases code for the protein.
How a genome test reads USH1G
32
positions in USH1G 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 7.2 kb of USH1G, introns included, not only the 3.6 kb of exons.
Traits linked to USH1G
The Human Phenotype Ontology lists these as features of the rare conditions USH1G 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.). USH1G gene: USH1 protein network component sans. Retrieved 17 October 2026, from https://dantelabs.com/genes/ush1g
Dante Labs. USH1G gene: USH1 protein network component sans [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ush1g
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