Gene
TBC1D32
TBC1 domain family member 32
- HGNC 21485(opens in a new tab)
- Ensembl gene ENSG00000146350(opens in a new tab)
- NCBI Gene 221322(opens in a new tab)
Summary
- Cytogenetic location
- 6q22.31
- Coordinates
- Chromosome 6: 121,079,494–121,334,480 (GRCh38)
- Exons
- 32 exons across 255 kb
- Protein
- 1,257 amino acids
- Also known as
- FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI
- Previous symbols
- C6orf171, C6orf170
- MANE Select transcript
- ENST00000398212.7NM_152730.6
- 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.
Read TBC1D32, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads TBC1D32 yet. The test sequences your whole genome, so your data includes it all the same.
How TBC1D32 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 5.1 kb of the gene's 255 kb; 3,774 of those bases code for the protein.
How a genome test reads TBC1D32
3
positions in TBC1D32 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 255 kb of TBC1D32, introns included, not only the 5.1 kb of exons.
Traits linked to TBC1D32
The Human Phenotype Ontology lists these as features of the rare conditions TBC1D32 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Broad forehead
- Cleft lip
- Dandy-Walker malformation
- Depressed nasal bridge
- High, narrow palate
- Nasal tip, upturned
- Tongue tied
- Wider-than-typical soft spot of skull
Show 21 more traits
- Abnormal sella turcica morphology
- Midface retrusion
- Abnormally small head
- Absent nose
- Big calvaria
- Blockage of the rear opening of the nasal cavity
- Little lower jaw
- Long philtrum
- Midline facial cleft
- Mono nostril
- Only one upper front tooth
- Prominent nose
- Thin red part of the upper lip
- Abnormal dentition
- Accessory oral frenulum
- Broad nasal tip
- Central cleft upper lip
- Cleft nasal tip
- Cleft palate
- Corners of eye widely separated
- High palate
Abnormality of the eye
- Cerebral visual impairment
- Decreased clarity of vision
- Difficulties with night vision
- Hypoautofluorescent retinal lesion
- Hypoplastic optic chiasm
- Limited peripheral vision
- Optic disc pallor
- Spicular pigmentation of the retina
Show 14 more traits
- Undetectable light- and dark-adapted electroretinogram
- Wide-set eyes
- Moderate myopia
- Perifoveal ring of hyperautofluorescence
- Severe near sightedness
- Abnormally small eyeball
- Absence of eyeballs
- Cross-eyed
- Cyclops eye
- Deeply set eye
- Different colored eyes
- Optic nerve aplasia
- Retinal dysplasia
- Hole in the back of the eye
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.). TBC1D32 gene: TBC1 domain family member 32. Retrieved 17 October 2026, from https://dantelabs.com/genes/tbc1d32
Dante Labs. TBC1D32 gene: TBC1 domain family member 32 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tbc1d32
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks