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Protein

Dynein intermediate chain 2, axonemal

Gene

DNAI2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Part of the dynein complex of respiratory cilia.

GO - Molecular functioni

  • dynein heavy chain binding Source: GO_Central
  • dynein light chain binding Source: GO_Central
  • microtubule motor activity Source: MGI

GO - Biological processi

Keywordsi

Molecular functionMotor protein
Biological processCilium biogenesis/degradation

Enzyme and pathway databases

SignaLinkiQ9GZS0

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein intermediate chain 2, axonemal
Alternative name(s):
Axonemal dynein intermediate chain 2
Gene namesi
Name:DNAI2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000171595.13
HGNCiHGNC:18744 DNAI2
MIMi605483 gene
neXtProtiNX_Q9GZS0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Dynein, Microtubule

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 9 (CILD9)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:612444

Keywords - Diseasei

Ciliopathy, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi64446
GeneReviewsiDNAI2
MalaCardsiDNAI2
MIMi612444 phenotype
OpenTargetsiENSG00000171595
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA38669

Polymorphism and mutation databases

BioMutaiDNAI2
DMDMi311033373

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001146591 – 605Dynein intermediate chain 2, axonemalAdd BLAST605

Proteomic databases

EPDiQ9GZS0
PaxDbiQ9GZS0
PeptideAtlasiQ9GZS0
PRIDEiQ9GZS0
ProteomicsDBi80122
80123 [Q9GZS0-2]

PTM databases

iPTMnetiQ9GZS0
PhosphoSitePlusiQ9GZS0

Expressioni

Tissue specificityi

Highly expressed in trachea and testis.

Gene expression databases

BgeeiENSG00000171595 Expressed in 76 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_DNAI2
ExpressionAtlasiQ9GZS0 baseline and differential
GenevisibleiQ9GZS0 HS

Organism-specific databases

HPAiCAB006245
HPA050565

Interactioni

Subunit structurei

Consists of at least two heavy chains and a number of intermediate and light chains (Probable). Interacts with DNAAF2 (By similarity). Interacts with PIH1D3 (By similarity). Interacts with HEATR2; probably involved in outer arm dynein assembly (PubMed:25232951).By similarityCurated1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122183, 14 interactors
STRINGi9606.ENSP00000308312

Structurei

3D structure databases

ProteinModelPortaliQ9GZS0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati150 – 203WD 1Add BLAST54
Repeati208 – 246WD 2Add BLAST39
Repeati253 – 294WD 3Add BLAST42
Repeati301 – 347WD 4Add BLAST47
Repeati355 – 393WD 5Add BLAST39
Repeati399 – 437WD 5Add BLAST39
Repeati443 – 481WD 5Add BLAST39

Sequence similaritiesi

Belongs to the dynein intermediate chain family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IU37 Eukaryota
ENOG410XTD6 LUCA
GeneTreeiENSGT00730000110228
HOGENOMiHOG000259651
HOVERGENiHBG013035
InParanoidiQ9GZS0
KOiK11143
PhylomeDBiQ9GZS0
TreeFamiTF300553

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
SMARTiView protein in SMART
SM00320 WD40, 5 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50294 WD_REPEATS_REGION, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: Q9GZS0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEIVYVYVKK RSEFGKQCNF SDRQAELNID IMPNPELAEQ FVERNPVDTG
60 70 80 90 100
IQCSISMSEH EANSERFEME TRGVNHVEGG WPKDVNPLEL EQTIRFRKKV
110 120 130 140 150
EKDENYVNAI MQLGSIMEHC IKQNNAIDIY EEYFNDEEAM EVMEEDPSAK
160 170 180 190 200
TINVFRDPQE IKRAATHLSW HPDGNRKLAV AYSCLDFQRA PVGMSSDSYI
210 220 230 240 250
WDLENPNKPE LALKPSSPLV TLEFNPKDSH VLLGGCYNGQ IACWDTRKGS
260 270 280 290 300
LVAELSTIES SHRDPVYGTI WLQSKTGTEC FSASTDGQVM WWDIRKMSEP
310 320 330 340 350
TEVVILDITK KEQLENALGA ISLEFESTLP TKFMVGTEQG IVISCNRKAK
360 370 380 390 400
TSAEKIVCTF PGHHGPIYAL QRNPFYPKNF LTVGDWTARI WSEDSRESSI
410 420 430 440 450
MWTKYHMAYL TDAAWSPVRP TVFFTTRMDG TLDIWDFMFE QCDPTLSLKV
460 470 480 490 500
CDEALFCLRV QDNGCLIACG SQLGTTTLLE VSPGLSTLQR NEKNVASSMF
510 520 530 540 550
ERETRREKIL EARHREMRLK EKGKAEGRDE EQTDEELAVD LEALVSKAEE
560 570 580 590 600
EFFDIIFAEL KKKEADAIKL TPVPQQPSPE EDQVVEEGEE AAGEEGDEEV

EEDLA
Length:605
Mass (Da):68,821
Last modified:November 2, 2010 - v2
Checksum:iACD0CB1D7FBB64EA
GO
Isoform 2 (identifier: Q9GZS0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     450-461: Missing.

Show »
Length:593
Mass (Da):67,444
Checksum:i61A7B96CC3DD1324
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QRG2J3QRG2_HUMAN
Dynein intermediate chain 2, axonem...
DNAI2
662Annotation score:
J3KT23J3KT23_HUMAN
Dynein intermediate chain 2, axonem...
DNAI2
168Annotation score:

Sequence cautioni

The sequence CAB70790 differs from that shown. Intron retention.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti70E → K in CAC17464 (Ref. 2) Curated1
Sequence conflicti593G → E in CAC17464 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061140495V → I. Corresponds to variant dbSNP:rs28725418EnsemblClinVar.1
Natural variantiVAR_033880558A → T5 PublicationsCorresponds to variant dbSNP:rs1979370EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_036541450 – 461Missing in isoform 2. 1 PublicationAdd BLAST12

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF250288 mRNA Translation: AAG38489.1
AF253097
, AF253087, AF253088, AF253089, AF260782, AF253090, AF253091, AF253092, AF253093, AF253094, AF253095, AF253096 Genomic DNA Translation: AAG38000.1
AJ295276 mRNA Translation: CAC17464.1
AC103809 Genomic DNA No translation available.
CH471099 Genomic DNA Translation: EAW89146.1
BC039582 mRNA Translation: AAH39582.1
AL137526 mRNA Translation: CAB70790.1 Sequence problems.
CCDSiCCDS11697.1 [Q9GZS0-1]
CCDS58589.1 [Q9GZS0-2]
PIRiT46370
RefSeqiNP_001166281.1, NM_001172810.1 [Q9GZS0-2]
NP_075462.3, NM_023036.4 [Q9GZS0-1]
UniGeneiHs.147472

Genome annotation databases

EnsembliENST00000311014; ENSP00000308312; ENSG00000171595 [Q9GZS0-1]
ENST00000446837; ENSP00000400252; ENSG00000171595 [Q9GZS0-1]
ENST00000582036; ENSP00000461950; ENSG00000171595 [Q9GZS0-2]
GeneIDi64446
KEGGihsa:64446
UCSCiuc002jkf.4 human [Q9GZS0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDNAI2_HUMAN
AccessioniPrimary (citable) accession number: Q9GZS0
Secondary accession number(s): C9J0S6
, Q8IUW4, Q9H179, Q9NT53
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: November 2, 2010
Last modified: September 12, 2018
This is version 152 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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