Gene
SF3B4
splicing factor 3b subunit 4
- HGNC 10771↗(opens in a new tab)
- Ensembl gene ENSG00000143368↗(opens in a new tab)
- NCBI Gene 10262↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q21.2
- Coordinates
- Chromosome 1: 149,923,317–149,927,803 (GRCh38)
- Exons
- 6 exons across 4.5 kb
- Protein
- 424 amino acids
- Also known as
- SAP49, SF3b49, Hsh49
- MANE Select transcript
- ENST00000271628.9NM_005850.5
- 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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Get my Genome TestCurated reports relevant to this gene
No Genome Test report reads SF3B4 yet. The test sequences your whole genome, so your data includes it all the same.
How SF3B4 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 1.5 kb of the gene's 4.5 kb; 1,275 of those bases code for the protein.
How a genome test reads SF3B4
12
positions in SF3B4 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 4.5 kb of SF3B4, introns included, not only the 1.5 kb of exons.
Traits linked to SF3B4
The Human Phenotype Ontology lists these as features of the rare conditions SF3B4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Abnormality of the thumb
- Bilateral radial aplasia
- Club feet
- Limited elbow extension
- Short 5th finger
- Short big toe
- Shortened 1st long bone of hand
- Underdeveloped outer large forearm bone
Show 24 more traits
- Webbed 4th-5th toes
- Absent fingers
- Absent/small thumb
- Absence/underdevelopment of inner forearm bone
- Absent thumb
- Aplasia/Hypoplasia of the radius
- Fused forearm bones
- Short calf bone
- Abnormality of the lower limb
- Bunion
- Finger syndactyly
- Finger-like thumb
- Fused thumb bones
- Missing outer large bone of forearm
- Phocomelia
- Short thumb
- Broad big toe
- Curvature of digit
- Fused toes
- Hip dislocation
- Missing toes
- Overlapping toe
- Radial deviation of finger
- Short toe
Abnormality of head or neck
- Facial asymmetry
- Hair growing down to cheek
- Midface retrusion
- Narrowing of the tear duct
- Velopharyngeal incompetence
- Cheekbone underdevelopment
- Decreased size of maxilla
- Downward slanting of the opening between the eyelids
Show 20 more traits
- Little lower jaw
- Prominent nasal bridge
- Small retruded chin
- Zygomatic flattening
- Abnormal of nasal shape
- Abnormality of the palate
- Absent lower eyelashes
- Adhesion of the temporomandibular joint
- Cleft lower eyelid
- Cleft palate
- Sparse lower eyelashes
- Sparse or absent eyebrows
- Wide mouth
- Cleft soft palate
- Non-midline cleft of the upper lip
- Abnormally small head
- Cleft upper lip
- Decrease in jaw mobility
- Receding chin
- Skin tag in front of the ear
Abnormality of the musculoskeletal system
- Cervical ribs
- Permanent flexion of the finger or toe
- Abnormal skeletal development
- Abnormal shape of pelvic girdle bone
- High shoulder blade
- Joint stiffness
- Abnormal vertebral body morphology
- Congenital diaphragmatic hernia
Show 3 more traits
Abnormality of the ear
- Abnormally shaped ears
- Conductive deafness
- Hearing impairment
- Small ears
- Absent ear canal
- Cupped ear
- Ears rotated toward back of head
- Narrow ear canal
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.). SF3B4 gene: splicing factor 3b subunit 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/sf3b4
Dante Labs. SF3B4 gene: splicing factor 3b subunit 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sf3b4
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