Gene
RAD21
RAD21 cohesin complex component
- HGNC 9811↗(opens in a new tab)
- Ensembl gene ENSG00000164754↗(opens in a new tab)
- NCBI Gene 5885↗(opens in a new tab)
Summary
- Cytogenetic location
- 8q24.11
- Coordinates
- Chromosome 8: 116,845,934–116,874,776 (GRCh38)
- Exons
- 14 exons across 28.8 kb
- Protein
- 631 amino acids
- Also known as
- KIAA0078, hHR21, SCC1
- MANE Select transcript
- ENST00000297338.7NM_006265.3
- 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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Cornelia de Lange Syndrome
A developmental disorder caused by variants in NIPBL, SMC1A, SMC3, RAD21, HDAC8 or BRD4, with a wide range of severity.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Diagnosis guides monitoring for associated problems such as reflux, heart defects, hearing and vision issues.
How RAD21 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 3.7 kb of the gene's 28.8 kb; 1,896 of those bases code for the protein.
How a genome test reads RAD21
37
positions in RAD21 where ClinVar classes a change as pathogenic or likely pathogenic
5 of them (14%) fall in regions short reads find hard.
- Segmental duplications (5 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 28.8 kb of RAD21, introns included, not only the 3.7 kb of exons.
Genes linked to the same conditions
Traits linked to RAD21
The Human Phenotype Ontology lists these as features of the rare conditions RAD21 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormally small head
- Flat face
- Thin red part of the upper lip
- Wide nasal bridge
- Broad head shape
- Bulbous nose
- Curly eyelashes
- Decreased volume of lip
Show 33 more traits
- Deep philtrum
- Delayed eruption of teeth
- Depressed nasal bridge
- Downturned corners of mouth
- High palate
- Highly arched eyebrow
- Little lower jaw
- Long eyelashes
- Long philtrum
- Low frontal hairline
- Low hairline at back of neck
- Monobrow
- Nasal tip, upturned
- Short neck
- Short nose
- Sparse scalp hair
- Thick eyebrow
- Widely spaced teeth
- Aplasia/Hypoplasia of the mandible
- Enamel agenesis
- Inflammation of eyelids
- Skull asymmetry
- Smooth philtrum
- Submucous cleft hard palate
- Upward slanting of the opening between the eyelids
- Velopharyngeal incompetence
- Abnormal dentition
- Abnormality of the palate
- Blockage of the rear opening of the nasal cavity
- Cleft palate
- Extra teeth
- Increased nuchal translucency
- Thick nasal alae
Abnormality of limbs
- Webbed 2nd and 3rd toes
- Attachment of thumb close to wrist
- Cone-shaped end part of finger bones
- Fused toes
- Short foot
- Shortened 1st long bone of hand
- Small hand
- Smaller or shorter than typical limbs
Show 15 more traits
- Bilateral single transverse palmar creases
- Coxa vara
- Curvature of little finger
- Elbow dislocation
- Fused forearm bones
- Short fingers or toes
- Short neck of thighbone
- Single transverse palmar crease
- Abnormal morphology of ulna
- Avascular necrosis of the capital femoral epiphysis
- Hip dislocation
- Knock knees
- Oligodactyly
- Talipes
- Webbed fingers or toes
Abnormality of the digestive system
- Abdominal pain
- Barrett esophagus
- Delayed gastric emptying
- Hypoperistalsis
- Intestinal pseudo-obstruction
- Megaduodenum
- Acid reflux
- Feeding difficulties in infancy
Show 3 more traits
Abnormality of the eye
- Abnormally close eyes
- Close sighted
- Cornea of eye less than 10mm in diameter
- Drooping of both upper eyelids
- Drooping upper eyelid
- Phthisis bulbi
- Wide-set eyes
- Clouding of the lens of the eye
Show 3 more traits
Abnormality of the genitourinary system
- Hypospadias
- Multicystic kidney dysplasia
- Small labia majora
- Underdeveloped penis
- Undescended testes
- Vesicoureteral reflux
- Abnormality of the uterus
- Frequent urinary tract infections
Show 3 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.). RAD21 gene: RAD21 cohesin complex component. Retrieved 17 October 2026, from https://dantelabs.com/genes/rad21
Dante Labs. RAD21 gene: RAD21 cohesin complex component [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rad21
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