DNAI2
entrez
64446
canonical
uniprot
Q9GZS0
canonical
ensembl
ENSG00000171595
resolver
ensp
ENSP00000308312
resolver
ensp
ENSP00000461950
resolver
genesymbol
DNAI2
resolver
hgnc
HGNC:18744
resolver
uniprot
C9J0S6
resolver
uniprot
Q8IUW4
resolver
uniprot
Q9H179
resolver
uniprot
Q9NT53
resolver
uniprot_entry
DNAI2_HUMAN
resolver
uniprot_sec
C9J0S6
resolver
uniprot_sec
Q8IUW4
resolver
uniprot_sec
Q9H179
resolver
uniprot_sec
Q9NT53
resolver
amino_acid_sequence
MEIVYVYVKKRSEFGKQCNFSDRQAELNIDIMPNPELAEQFVERNPVDTGIQCSISMSEHEANSERFEMETRGVNHVEGGWPKDVNPLELEQTIRFRKKVEKDENYVNAIMQLGSIMEHCIKQNNAIDIYEEYFNDEEAMEVMEEDPSAKTINVFRDPQEIKRAATHLSWHPDGNRKLAVAYSCLDFQRAPVGMSSDSYIWDLENPNKPELALKPSSPLVTLEFNPKDSHVLLGGCYNGQIACWDTRKGSLVAELSTIESSHRDPVYGTIWLQSKTGTECFSASTDGQVMWWDIRKMSEPTEVVILDITKKEQLENALGAISLEFESTLPTKFMVGTEQGIVISCNRKAKTSAEKIVCTFPGHHGPIYALQRNPFYPKNFLTVGDWTARIWSEDSRESSIMWTKYHMAYLTDAAWSPVRPTVFFTTRMDGTLDIWDFMFEQCDPTLSLKVCDEALFCLRVQDNGCLIACGSQLGTTTLLEVSPGLSTLQRNEKNVASSMFERETRREKILEARHREMRLKEKGKAEGRDEEQTDEELAVDLEALVSKAEEEFFDIIFAELKKKEADAIKLTPVPQQPSPEEDQVVEEGEEAAGEEGDEEVEEDLA
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:18950741, ECO:0000269|PubMed:25186273}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of dynein, a family of motor proteins essential for movement along microtubules (By similarity). Required for structural and functional integrity of cilia (By similarity). Part of the dynein complex of respiratory cilia. {ECO:0000250|UniProtKB:Q23FU1}.
uniprot
proteins
mass_dalton
68821
uniprot
proteins
protein_family
Dynein intermediate chain family
uniprot
proteins
pubmed
11153919
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18950741
uniprot
proteins
pubmed
25186273
uniprot
proteins
pubmed
25232951
uniprot
proteins
pubmed
28176794
uniprot
proteins
pubmed
33139725
uniprot
proteins
sequence_length
605
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:33139725}. Dynein axonemal particle {ECO:0000250|UniProtKB:Q4QR00}. Note=Located in the proximal region of respiratory cilia. {ECO:0000269|PubMed:33139725}.
uniprot
proteins