Gene
RIPK4
receptor interacting serine/threonine kinase 4
- HGNC 496↗(opens in a new tab)
- Ensembl gene ENSG00000183421↗(opens in a new tab)
- NCBI Gene 54101↗(opens in a new tab)
Summary
- Cytogenetic location
- 21q22.3
- Coordinates
- Chromosome 21: 41,739,373–41,767,052 (GRCh38)
- Exons
- 8 exons across 27.7 kb
- Protein
- 784 amino acids
- Also known as
- DIK, ANKK2, RIP4, PKK
- Previous symbols
- ANKRD3
- MANE Select transcript
- ENST00000332512.8NM_020639.3
- 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.
Read RIPK4, 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 RIPK4 yet. The test sequences your whole genome, so your data includes it all the same.
How RIPK4 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 3.8 kb of the gene's 27.7 kb; 2,355 of those bases code for the protein.
How a genome test reads RIPK4
1
position in RIPK4 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 27.7 kb of RIPK4, introns included, not only the 3.8 kb of exons.
Traits linked to RIPK4
The Human Phenotype Ontology lists these as features of the rare conditions RIPK4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Absent eyelids
- Cleft of the face
- Expressionless face
- Little lower jaw
- Oral synechia
- Short nose
- Sparse scalp hair
- Underdeveloped tissue around nostril
Show 24 more traits
- Upward slanting of the opening between the eyelids
- Abnormally small head
- Adhesion of eyelids
- Central cleft upper lip
- Cleft palate
- Sparse or absent eyebrows
- Sparse or absent eyelashes
- Abnormal oral frenulum morphology
- Absence of adult teeth
- Absence of upper front tooth
- Cleft eyelid
- Cleft lower eyelid
- Cleft tongue
- Cleft upper lip
- Depressed nasal bridge
- Everted eyelid
- Lip pits at corners of the mouth
- Narrow mouth
- Narrow opening between the eyelids
- Short neck
- Decreased size of maxilla
- Eyelids stay open due to scarring
- Absent eyebrow
- Absent eyelashes
Abnormality of the genitourinary system
- Absent external genitalia
- Heart shaped uterus
- Short penis
- Small labia majora
- Small male external genitalia
- Ambiguous external genitalia
- Abnormal kidney location
- Hydroureter
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.
- 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.). RIPK4 gene: receptor interacting serine/threonine kinase 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/ripk4
Dante Labs. RIPK4 gene: receptor interacting serine/threonine kinase 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ripk4
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks