Gene
IQCB1
IQ motif containing B1
- HGNC 28949(opens in a new tab)
- Ensembl gene ENSG00000173226(opens in a new tab)
- NCBI Gene 9657(opens in a new tab)
Summary
- Cytogenetic location
- 3q13.33
- Coordinates
- Chromosome 3: 121,769,761–121,835,060 (GRCh38)
- Exons
- 15 exons across 65.3 kb
- Protein
- 598 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- KIAA0036, NPHP5, SLSN5
- MANE Select transcript
- ENST00000310864.11NM_001023570.4
- 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.
Read IQCB1, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated report relevant to this gene
Nephronophthisis and Senior-Løken Syndrome
- Senior-Løken SyndromeAutosomal recessive
A form of nephronophthisis combined with retinal degeneration that can cause early vision loss.
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Knowing prompts referral for an eye examination alongside kidney monitoring.
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 IQCB1 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 2.6 kb of the gene's 65.3 kb; 1,797 of those bases code for the protein.
How a genome test reads IQCB1
55
positions in IQCB1 where ClinVar classes a change as pathogenic or likely pathogenic
2 of them (3.6%) fall in regions short reads find hard.
- Low mappability (2 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
A whole genome covers all 65.3 kb of IQCB1, introns included, not only the 2.6 kb of exons.
Traits linked to IQCB1
The Human Phenotype Ontology lists these as features of the rare conditions IQCB1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Global developmental delay
- Abnormality of neuronal migration
- Aplasia/Hypoplasia of the cerebellar vermis
- Epilepsy
- Eye poking
- Paralysis or weakness of one side of body
- Ataxia
- Autism spectrum disorder
Show 2 more traits
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.). IQCB1 gene: IQ motif containing B1. Retrieved 16 October 2026, from https://dantelabs.com/genes/iqcb1
Dante Labs. IQCB1 gene: IQ motif containing B1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/iqcb1
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks