InnateDB Protein
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IDBP-757773.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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DNAI2
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Protein Name
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000461950
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InnateDB Gene
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IDBG-67029 (DNAI2)
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Protein Structure
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Function |
Part of the dynein complex of respiratory cilia.
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Subcellular Localization |
Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250}.
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Disease Associations |
Ciliary dyskinesia, primary, 9 (CILD9) [MIM:612444]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269PubMed:18950741}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Highly expressed in trachea and testis.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001680
WD40 repeat
IPR017986
WD40-repeat-containing domain
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PFAM |
PF00400
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PRINTS |
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PIRSF |
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SMART |
SM00320
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TIGRFAMs |
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Modification |
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SwissProt |
Q9GZS0
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PhosphoSite |
PhosphoSite-Q9GZS0
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
64446
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UniGene |
Hs.147472
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RefSeq |
NP_001166281
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HUGO |
HGNC:18744
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OMIM |
605483
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CCDS |
CCDS58589
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HPRD |
12019
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IMGT |
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EMBL |
AC103809
AF250288
AF253087
AF253088
AF253089
AF253090
AF253091
AF253092
AF253093
AF253094
AF253095
AF253096
AF253097
AF260782
AJ295276
AL137526
BC039582
CH471099
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GenPept |
AAG38000
AAG38489
AAH39582
CAB70790
CAC17464
EAW89146
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