KEGG   Homo sapiens (human): 64446
Entry
64446             CDS       T01001                                 

Gene name
DNAI2, CILD9, DIC2
Definition
(RefSeq) dynein axonemal intermediate chain 2
  KO
K11143  dynein intermediate chain 2, axonemal
Organism
hsa  Homo sapiens (human)
Pathway
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06419  Microtubule-based transport
nt06461  Huntington disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
  Element
N00976  Retrograde axonal transport
N00977  Mutation-caused aberrant Htt to retrograde axonal transport
N01159  Mutation-caused aberrant TUBA4A to retrograde axonal transport
N01160  Mutation-caused aberrant SOD1 to retrograde axonal transport
Disease
H00564  Primary ciliary dyskinesia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    64446 (DNAI2)
   05016 Huntington disease
    64446 (DNAI2)
   05022 Pathways of neurodegeneration - multiple diseases
    64446 (DNAI2)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Microtubules
   Tubulin-binding proteins
    Dyneins
     64446 (DNAI2)
SSDB
Motif
Pfam: WD40 DUF4795
Other DBs
NCBI-GeneID: 64446
NCBI-ProteinID: NP_075462
OMIM: 605483
HGNC: 18744
Ensembl: ENSG00000171595
Vega: OTTHUMG00000178578
Pharos: Q9GZS0(Tbio)
UniProt: Q9GZS0
LinkDB
Position
17q25.1
AA seq 605 aa
MEIVYVYVKKRSEFGKQCNFSDRQAELNIDIMPNPELAEQFVERNPVDTGIQCSISMSEH
EANSERFEMETRGVNHVEGGWPKDVNPLELEQTIRFRKKVEKDENYVNAIMQLGSIMEHC
IKQNNAIDIYEEYFNDEEAMEVMEEDPSAKTINVFRDPQEIKRAATHLSWHPDGNRKLAV
AYSCLDFQRAPVGMSSDSYIWDLENPNKPELALKPSSPLVTLEFNPKDSHVLLGGCYNGQ
IACWDTRKGSLVAELSTIESSHRDPVYGTIWLQSKTGTECFSASTDGQVMWWDIRKMSEP
TEVVILDITKKEQLENALGAISLEFESTLPTKFMVGTEQGIVISCNRKAKTSAEKIVCTF
PGHHGPIYALQRNPFYPKNFLTVGDWTARIWSEDSRESSIMWTKYHMAYLTDAAWSPVRP
TVFFTTRMDGTLDIWDFMFEQCDPTLSLKVCDEALFCLRVQDNGCLIACGSQLGTTTLLE
VSPGLSTLQRNEKNVASSMFERETRREKILEARHREMRLKEKGKAEGRDEEQTDEELAVD
LEALVSKAEEEFFDIIFAELKKKEADAIKLTPVPQQPSPEEDQVVEEGEEAAGEEGDEEV
EEDLA
NT seq 1818 nt   +upstreamnt  +downstreamnt
atggagattgtgtacgtgtacgtcaagaagcgcagcgagttcgggaagcagtgcaatttc
tcggaccgccaggccgagctgaacatcgacatcatgcccaaccctgagctggccgagcag
ttcgtggagcggaacccagtggacacgggcatccagtgctcgatcagcatgtcggaacac
gaggccaactcagagcggtttgagatggagacccggggagttaaccatgtcgaggggggc
tggcccaaggacgtgaaccccctggagctggagcagaccatccgtttccggaagaaagtg
gagaaagatgagaactacgttaacgccatcatgcagctcggctctatcatggagcactgc
atcaagcagaacaatgccattgacatctatgaagagtatttcaatgacgaggaggccatg
gaagtgatggaggaggacccttcagctaaaaccatcaatgtgttcagggacccccaggaa
atcaagagggctgccacacacctctcctggcaccccgatggcaacaggaagttggcagtg
gcatactcctgcttggattttcagcgggcacctgtgggcatgagcagcgattcatacatc
tgggacctggaaaaccccaacaagcctgaacttgctctgaagccatcgtctccactcgtg
acgttggagttcaaccccaaagattcccacgtactcctgggtggctgctacaatggacag
atagcctgctgggacacccgaaagggcagcctggtggcggagctatccaccattgagtcc
agccaccgagaccctgtgtatggcaccatctggctgcagtcgaagacgggcaccgagtgc
ttctcagcttccacggatgggcaggtcatgtggtgggacatccgaaagatgagcgagccc
actgaagttgtgatcttggacatcaccaagaaggaacagttggaaaatgccttgggggcc
atctccctggagttcgaatctactttgcccaccaagttcatggtggggaccgagcagggc
atcgtcatctcctgcaaccgcaaggccaagacgtcagctgaaaagattgtgtgcaccttc
ccgggccatcatggccccatctacgccctccagagaaaccccttctacccgaagaacttc
ctgacggttggcgactggacagcccgcatttggtctgaagacagccgggaatcgtccatc
atgtggaccaagtaccacatggcttacctcactgatgctgcctggagccccgtgaggccg
accgttttctttaccaccaggatggacggaaccctggatatctgggacttcatgttcgag
cagtgcgatcccaccctcagcttgaaggtgtgtgacgaggccctcttctgcctccgggtg
caggacaatgggtgtctcatcgcctgcggctcccagctggggacaaccaccctgctggag
gtctcgcctgggctctctaccctccagaggaatgagaagaacgtagcctcttccatgttt
gagcgtgagacccggcgagagaagatcctggaggccaggcaccgggagatgcggctgaag
gagaagggtaaggcggagggcagggatgaggagcagaccgatgaggagctggccgtagac
ctggaggcgctggtcagcaaggccgaggaggagttcttcgacatcatcttcgcagagctg
aagaagaaggaggcagacgccataaagctgacgccagtgcctcagcaaccaagtccagaa
gaagaccaggtggtggaggagggagaggaagcagcgggggaagaaggggatgaagaagtg
gaagaagacttagcctag

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