Gene
ARID2
AT-rich interaction domain 2
- HGNC 18037↗(opens in a new tab)
- Ensembl gene ENSG00000189079↗(opens in a new tab)
- NCBI Gene 196528↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q12
- Coordinates
- Chromosome 12: 45,729,706–45,908,037 (GRCh38)
- Exons
- 21 exons across 178.3 kb
- Protein
- 1,835 amino acids
- Also known as
- KIAA1557, DKFZp686G052, FLJ30619, BAF200, SMARCF3, ZIPZAP, p200
- MANE Select transcript
- ENST00000334344.11NM_152641.4
- 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 ARID2, 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 ARID2 yet. The test sequences your whole genome, so your data includes it all the same.
How ARID2 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 8.6 kb of the gene's 178.3 kb; 5,508 of those bases code for the protein.
How a genome test reads ARID2
66
positions in ARID2 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 178.3 kb of ARID2, introns included, not only the 8.6 kb of exons.
Traits linked to ARID2
The Human Phenotype Ontology lists these as features of the rare conditions ARID2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Broad nasal tip
- Coarse facial features
- Dandy-Walker malformation
- Deep laugh lines
- Deep philtrum
- Delayed eruption of teeth
- Dental crowding
- Downward slanting of the opening between the eyelids
Show 41 more traits
- Exaggerated cupid's bow
- Facial shape deformation
- Frontal bossing
- Full cheeks
- Full lower lip
- Full upper lip
- Fullness around the eyes
- Gum enlargement
- High forehead
- High frontal hairline
- Large face
- Little lower jaw
- Long philtrum
- Midface retrusion
- Narrow eyelid opening
- Prominent forehead
- Receding chin
- Thick nasal alae
- Thin red part of the upper lip
- Wide mouth
- Wide nose
- Prominent eyelashes
- Thick eyebrow
- Abnormal facial shape
- Asymmetry of the posterior head
- Broad philtrum
- Depressed nasal bridge
- Extra bones within cranial sutures
- Eye folds
- Low frontal hairline
- Monobrow
- Nasal tip, upturned
- Recurrent colds
- Short nose
- Short philtrum
- Sparse scalp hair
- Wide nasal base
- Cleft palate
- Abnormally small head
- High, narrow palate
- Large forehead
Abnormality of the nervous system
- Abnormal periventricular white matter morphology
- Absent speech development
- Bilateral tonic-clonic seizure with generalized onset
- Delayed ability to sit
- Delayed ability to walk
- Delayed fine motor development
- Delayed speech and language development
- Extra-axial cerebrospinal fluid accumulation
Show 27 more traits
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Global developmental delay
- Infantile spasms
- More active than typical
- Neurodevelopmental delay
- Rise in pressure inside skull
- Short attention span
- Thin corpus callosum
- Tonic seizure
- Typical absence seizure
- Intellectual disability
- Attention deficit
- Behavioral abnormality
- Epilepsy
- Intellectual disability, severe
- IQ between 34 and 49
- Periventricular leukomalacia
- Agenesis of corpus callosum
- Aggressive behavior
- Anxiety
- Auditory hypersensitivity
- Autism spectrum disorder
- Oral aversion
- Simplified gyral pattern
- Tic disorder
- Motor delay
- Repetitive movements
Abnormality of the digestive system
- Chronic constipation
- Enlarged vein in esophagus
- Inguinal hernia
- Liver inflammation
- Scar tissue replaces healthy tissue in the liver
- Umbilical hernia
- Feeding difficulties
- Acid reflux
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.
- 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.). ARID2 gene: AT-rich interaction domain 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/arid2
Dante Labs. ARID2 gene: AT-rich interaction domain 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/arid2
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks