DNAI2
Dynein axonemal intermediate chain 2
Also known as: CILD9, DIC2, DNAI2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9GZS0
- Gene
- DNAI2
- Ensembl
- ENSG00000171595
- Chromosome
- 17
- Canonical length
- 605 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Calyx,Connecting piece,Mid piece
OverviewNCBI Gene
The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]
Canonical amino-acid sequenceUniProt
605 residues, UniProt reviewed canonical sequence.
>Q9GZS0|DNAI2
1 MEIVYVYVKK RSEFGKQCNF SDRQAELNID IMPNPELAEQ FVERNPVDTG IQCSISMSEH
61 EANSERFEME TRGVNHVEGG WPKDVNPLEL EQTIRFRKKV EKDENYVNAI MQLGSIMEHC
121 IKQNNAIDIY EEYFNDEEAM EVMEEDPSAK TINVFRDPQE IKRAATHLSW HPDGNRKLAV
181 AYSCLDFQRA PVGMSSDSYI WDLENPNKPE LALKPSSPLV TLEFNPKDSH VLLGGCYNGQ
241 IACWDTRKGS LVAELSTIES SHRDPVYGTI WLQSKTGTEC FSASTDGQVM WWDIRKMSEP
301 TEVVILDITK KEQLENALGA ISLEFESTLP TKFMVGTEQG IVISCNRKAK TSAEKIVCTF
361 PGHHGPIYAL QRNPFYPKNF LTVGDWTARI WSEDSRESSI MWTKYHMAYL TDAAWSPVRP
421 TVFFTTRMDG TLDIWDFMFE QCDPTLSLKV CDEALFCLRV QDNGCLIACG SQLGTTTLLE
481 VSPGLSTLQR NEKNVASSMF ERETRREKIL EARHREMRLK EKGKAEGRDE EQTDEELAVD
541 LEALVSKAEE EFFDIIFAEL KKKEADAIKL TPVPQQPSPE EDQVVEEGEE AAGEEGDEEV
601 EEDLALocalizationUniProt · AlphaFold · HPA
Whether an antibody against DNAI2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 29 nTPM
Expression across tissuesHPA
Tissue
- fallopian tube: 29 nTPM
- testis: 18 nTPM
- choroid plexus: 5.4 nTPM
- lung: 2.9 nTPM
- hypothalamus: 1.5 nTPM
- hippocampal formation: 1.4 nTPM
Single-cell type
- respiratory ciliated cells: 480 nCPM
- fallopian tube ciliated cells: 253 nCPM
- ependymal cells: 212 nCPM
- epididymal efferent duct ciliated cells: 187 nCPM
- endometrial ciliated cells: 169 nCPM
- late primary spermatocytes: 124 nCPM
Immune cell
- NK-cell: 3.8 nTPM
- memory CD4 T-cell: 0.5 nTPM
- MAIT T-cell: 0.4 nTPM
- memory CD8 T-cell: 0.4 nTPM
- T-reg: 0.3 nTPM
- gdT-cell: 0.2 nTPM
Brain region
- choroid plexus: 14 nTPM
- midbrain: 8.8 nTPM
- medulla oblongata: 6.7 nTPM
- spinal cord: 4.8 nTPM
- pons: 3.1 nTPM
- hypothalamus: 2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DNAI2.
Disease | AllUniProt
Conditions DNAI2 is implicated in, by any mechanism.
- Ciliary dyskinesia, primary, 9 (CILD9) MIM:612444
Disease | GeneticClinVar
116 pathogenic / likely-pathogenic of 923 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Primary ciliary dyskinesia
- Primary ciliary dyskinesia 9
- DNAI2-related disorder
- Respiratory ciliopathies including non-CF bronchiectasis
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.98
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.42
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DNAI2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DNAI2 as an antibody target. Whether an autoantibody or antibody against DNAI2 could matter depends on whether native DNAI2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DNAI2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DNAI2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...