Gene
KIAA0753
KIAA0753
- HGNC 29110↗(opens in a new tab)
- Ensembl gene ENSG00000198920↗(opens in a new tab)
- NCBI Gene 9851↗(opens in a new tab)
Summary
- Cytogenetic location
- 17p13.1
- Coordinates
- Chromosome 17: 6,578,147–6,640,711 (GRCh38)
- Exons
- 19 exons across 62.6 kb
- Protein
- 967 amino acids
- Also known as
- OFIP, MNR
- MANE Select transcript
- ENST00000361413.8NM_014804.3
- 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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Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads KIAA0753 yet. The test sequences your whole genome, so your data includes it all the same.
How KIAA0753 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 4.6 kb of the gene's 62.6 kb; 2,904 of those bases code for the protein.
How a genome test reads KIAA0753
11
positions in KIAA0753 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 62.6 kb of KIAA0753, introns included, not only the 4.6 kb of exons.
Traits linked to KIAA0753
The Human Phenotype Ontology lists these as features of the rare conditions KIAA0753 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Bumpy tongue
- Eye folds
- Flat face
- Midline notch of upper alveolar ridge
- Nasal tip, upturned
- Wide nasal bridge
- Widely spaced teeth
- Abnormal oral frenulum morphology
Show 19 more traits
- Broad nasal tip
- Cleft palate
- Decreased size of tooth
- Decreased width of the skull
- Depressed nasal bridge
- Downturned corners of mouth
- Frontal bossing
- Hamartoma of tongue
- High palate
- Little lower jaw
- Long face
- Prominent forehead
- Tongue nodules
- Cleft of the mouth
- Encephalocele
- Highly arched eyebrow
- Long philtrum
- Prominent nasal bridge
- Short lingual frenulum
Abnormality of the nervous system
- Agenesis of corpus callosum
- Cerebellar vermis hypoplasia
- Delayed motor skills
- Delayed speech and language development
- Global developmental delay
- Molar tooth sign on MRI
- Ventriculomegaly
- Ataxia
Show 14 more traits
- Intellectual disability
- Abnormal gait
- Dysgenesis of the cerebellar vermis
- Hypoplasia of olfactory tract
- Inferior cerebellar vermis hypoplasia
- Lateral ventricle dilatation
- Underdevelopment of part of brain called corpus callosum
- Abnormality of neuronal migration
- Aplasia/Hypoplasia of the corpus callosum
- Epilepsy
- Hypothalamic hamartoma
- More grooves in brain
- Too much cerebrospinal fluid in the brain
- Tremor
Abnormality of the eye
- Oculomotor apraxia
- Wide-set eyes
- Cross-eyed
- Farsightedness
- Involuntary, rapid, rhythmic eye movements
- Inward turning cross eyed
- Abnormal retinal pigmentation
- Cat eye
Show 1 more trait
Abnormality of the genitourinary system
- Hydronephrosis
- Bilateral cryptorchidism
- Absent kidney
- Absent/small kidney
- Hypospadias
- Kidney damage
- Nephronophthisis
- Renal failure
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.). KIAA0753 gene: KIAA0753. Retrieved 17 October 2026, from https://dantelabs.com/genes/kiaa0753
Dante Labs. KIAA0753 gene: KIAA0753 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kiaa0753
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