Protein-coding gene in the species Homo sapiens
DNAI2 |
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Identifiers |
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Aliases | DNAI2, CILD9, DIC2, dynein axonemal intermediate chain 2 |
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External IDs | OMIM: 605483; MGI: 2685574; HomoloGene: 11311; GeneCards: DNAI2; OMA:DNAI2 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 17 (human)[1] |
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| Band | 17q25.1 | Start | 74,274,247 bp[1] |
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End | 74,314,884 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 11 (mouse)[2] |
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| Band | 11|11 E2 | Start | 114,618,234 bp[2] |
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End | 114,648,715 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - right uterine tube
- bronchial epithelial cell
- mucosa of paranasal sinus
- left testis
- right testis
- olfactory zone of nasal mucosa
- nasal epithelium
- sperm
- epithelium of nasopharynx
- testicle
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| Top expressed in | - spermatid
- otolith organ
- utricle
- seminiferous tubule
- olfactory epithelium
- spermatocyte
- vestibular sensory epithelium
- Epithelium of choroid plexus
- right lung lobe
- blastocyst
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | - microtubule motor activity
- cytoskeletal motor activity
- protein binding
- plus-end-directed microtubule motor activity
- dynein light chain binding
- dynein heavy chain binding
| Cellular component | - cytoplasm
- axonemal dynein complex
- dynein complex
- axoneme
- cell projection
- sperm flagellum
- cilium
- microtubule
- outer dynein arm
- cytoskeleton
- external side of plasma membrane
| Biological process | - cilium movement
- determination of left/right symmetry
- outer dynein arm assembly
- cell projection organization
- cilium assembly
- microtubule-based movement
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_001172810 NM_023036 NM_001353167 |
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RefSeq (protein) | |
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NP_001166281 NP_075462 NP_001340096 |
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Location (UCSC) | Chr 17: 74.27 – 74.31 Mb | Chr 11: 114.62 – 114.65 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Dynein axonemal intermediate chain 2 also known as axonemal dynein intermediate chain 2, is a protein that in humans is encoded by the DNAI2 gene.[5][6]
Function
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.[5]
Clinical significance
Mutations in the DNAI2 gene are associated with primary ciliary dyskinesia.[7]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000171595 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034706 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: dynein".
- ^ Pennarun G, Chapelin C, Escudier E, Bridoux AM, Dastot F, Cacheux V, Goossens M, Amselem S, Duriez B (December 2000). "The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia". Hum. Genet. 107 (6): 642–9. doi:10.1007/s004390000427. PMID 11153919. S2CID 21558696.
- ^ Loges NT, Olbrich H, Fenske L, Mussaffi H, Horvath J, Fliegauf M, Kuhl H, Baktai G, Peterffy E, Chodhari R, Chung EM, Rutman A, O'Callaghan C, Blau H, Tiszlavicz L, Voelkel K, Witt M, Zietkiewicz E, Neesen J, Reinhardt R, Mitchison HM, Omran H (November 2008). "DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm". Am. J. Hum. Genet. 83 (5): 547–58. doi:10.1016/j.ajhg.2008.10.001. PMC 2668028. PMID 18950741.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
External links
- GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia
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