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Q9GZS0 (DNAI2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dynein intermediate chain 2, axonemal
Alternative name(s):
Axonemal dynein intermediate chain 2
Gene names
Name:DNAI2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length605 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Part of the dynein complex of respiratory cilia.

Subunit structure

Consists of at least two heavy chains and a number of intermediate and light chains. Interacts with DNAAF2 By similarity.

Subcellular location

Cytoplasmcytoskeletoncilium axoneme By similarity.

Tissue specificity

Highly expressed in trachea and testis.

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the dynein intermediate chain family.

Contains 5 WD repeats.

Sequence caution

The sequence CAB70790.1 differs from that shown. Reason: Intron retention.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9GZS0-1)

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.
Isoform 2 (identifier: Q9GZS0-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 605605Dynein intermediate chain 2, axonemal
PRO_0000114659

Regions

Repeat160 – 21152WD 1
Repeat214 – 25441WD 2
Repeat261 – 30242WD 3
Repeat362 – 40140WD 4
Repeat405 – 44541WD 5

Natural variations

Alternative sequence450 – 46112Missing in isoform 2.
VSP_036541
Natural variant4951V → I.
Corresponds to variant rs28725418 [ dbSNP | Ensembl ].
VAR_061140
Natural variant5581A → T. Ref.1 Ref.2 Ref.4 Ref.5 Ref.6
Corresponds to variant rs1979370 [ dbSNP | Ensembl ].
VAR_033880

Experimental info

Sequence conflict701E → K in CAC17464. Ref.2
Sequence conflict5931G → E in CAC17464. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 2, 2010. Version 2.
Checksum: ACD0CB1D7FBB64EA

FASTA60568,821
        10         20         30         40         50         60 
MEIVYVYVKK RSEFGKQCNF SDRQAELNID IMPNPELAEQ FVERNPVDTG IQCSISMSEH 

        70         80         90        100        110        120 
EANSERFEME TRGVNHVEGG WPKDVNPLEL EQTIRFRKKV EKDENYVNAI MQLGSIMEHC 

       130        140        150        160        170        180 
IKQNNAIDIY EEYFNDEEAM EVMEEDPSAK TINVFRDPQE IKRAATHLSW HPDGNRKLAV 

       190        200        210        220        230        240 
AYSCLDFQRA PVGMSSDSYI WDLENPNKPE LALKPSSPLV TLEFNPKDSH VLLGGCYNGQ 

       250        260        270        280        290        300 
IACWDTRKGS LVAELSTIES SHRDPVYGTI WLQSKTGTEC FSASTDGQVM WWDIRKMSEP 

       310        320        330        340        350        360 
TEVVILDITK KEQLENALGA ISLEFESTLP TKFMVGTEQG IVISCNRKAK TSAEKIVCTF 

       370        380        390        400        410        420 
PGHHGPIYAL QRNPFYPKNF LTVGDWTARI WSEDSRESSI MWTKYHMAYL TDAAWSPVRP 

       430        440        450        460        470        480 
TVFFTTRMDG TLDIWDFMFE QCDPTLSLKV CDEALFCLRV QDNGCLIACG SQLGTTTLLE 

       490        500        510        520        530        540 
VSPGLSTLQR NEKNVASSMF ERETRREKIL EARHREMRLK EKGKAEGRDE EQTDEELAVD 

       550        560        570        580        590        600 
LEALVSKAEE EFFDIIFAEL KKKEADAIKL TPVPQQPSPE EDQVVEEGEE AAGEEGDEEV 


EEDLA 

« Hide

Isoform 2 [UniParc].

Checksum: 61A7B96CC3DD1324
Show »

FASTA59367,444

References

« Hide 'large scale' references
[1]"The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia."
Pennarun G., Chapelin C., Escudier E., Bridoux A.-M., Dastot F., Cacheux V., Goossens M., Amselem S., Duriez B.
Hum. Genet. 107:642-649(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT THR-558.
Tissue: Testis.
[2]"No deleterious mutations were found in three genes (HFH4, LC8, DNAI2) on human chromosome 17q in patients with primary ciliary dyskinesia."
Bartoloni L., Mitchison H., Pazour G.J., Meeks M., Chung E., Dickert B.L., Spiden S., Gehrig C., Rossier C., DeLozier-Blanchet C.D., Blouin J.-L., Witman G.B., Gardiner R.M., Antonarakis S.E.
Eur. J. Hum. Genet. 8:126-126(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-558.
Tissue: Testis.
[3]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT THR-558.
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT THR-558.
Tissue: Brain.
[6]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 330-605, VARIANT THR-558.
Tissue: Testis.
[7]"DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm."
Loges N.T., Olbrich H., Fenske L., Mussaffi H., Horvath J., Fliegauf M., Kuhl H., Baktai G., Peterffy E., Chodhari R., Chung E.M., Rutman A., O'Callaghan C., Blau H., Tiszlavicz L., Voelkel K., Witt M., Zietkiewicz E. expand/collapse author list , Neesen J., Reinhardt R., Mitchison H.M., Omran H.
Am. J. Hum. Genet. 83:547-558(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CILD9.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF250288 mRNA. Translation: AAG38489.1.
AF253097 expand/collapse EMBL AC list , 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.
CCDSCCDS11697.1. [Q9GZS0-1]
CCDS58589.1. [Q9GZS0-2]
PIRT46370.
RefSeqNP_001166281.1. NM_001172810.1. [Q9GZS0-2]
NP_075462.3. NM_023036.4. [Q9GZS0-1]
XP_005257635.1. XM_005257578.1. [Q9GZS0-1]
UniGeneHs.147472.

3D structure databases

ProteinModelPortalQ9GZS0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000308312.

PTM databases

PhosphoSiteQ9GZS0.

Polymorphism databases

DMDM311033373.

Proteomic databases

PaxDbQ9GZS0.
PRIDEQ9GZS0.

Protocols and materials databases

DNASU64446.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000311014; ENSP00000308312; ENSG00000171595. [Q9GZS0-1]
ENST00000446837; ENSP00000400252; ENSG00000171595. [Q9GZS0-1]
ENST00000582036; ENSP00000461950; ENSG00000171595. [Q9GZS0-2]
GeneID64446.
KEGGhsa:64446.
UCSCuc002jkf.3. human. [Q9GZS0-1]
uc002jkg.3. human. [Q9GZS0-2]

Organism-specific databases

CTD64446.
GeneCardsGC17P072292.
GeneReviewsDNAI2.
H-InvDBHIX0027346.
HIX0202470.
HGNCHGNC:18744. DNAI2.
HPACAB006245.
MIM605483. gene.
612444. phenotype.
neXtProtNX_Q9GZS0.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA38669.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG284872.
HOGENOMHOG000259651.
HOVERGENHBG013035.
InParanoidQ9GZS0.
KOK11143.
OrthoDBEOG70GMF5.
PhylomeDBQ9GZS0.
TreeFamTF300553.

Enzyme and pathway databases

SignaLinkQ9GZS0.

Gene expression databases

ArrayExpressQ9GZS0.
BgeeQ9GZS0.
CleanExHS_DNAI2.
GenevestigatorQ9GZS0.

Family and domain databases

Gene3D2.130.10.10. 1 hit.
InterProIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF00400. WD40. 1 hit.
[Graphical view]
SMARTSM00320. WD40. 5 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 1 hit.
PROSITEPS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDNAI2.
GenomeRNAi64446.
NextBio66463.
PROQ9GZS0.
SOURCESearch...

Entry information

Entry nameDNAI2_HUMAN
AccessionPrimary (citable) accession number: Q9GZS0
Secondary accession number(s): C9J0S6 expand/collapse secondary AC list , Q8IUW4, Q9H179, Q9NT53
Entry history
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: November 2, 2010
Last modified: July 9, 2014
This is version 117 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM