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Protein

Dynein intermediate chain 2, axonemal

Gene

DNAI2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Part of the dynein complex of respiratory cilia.

GO - Molecular functioni

  1. microtubule motor activity Source: MGI

GO - Biological processi

  1. cilium assembly Source: MGI
  2. metabolic process Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Motor protein

Keywords - Biological processi

Cilium 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
ProteomesiUP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:18744. DNAI2.

Subcellular locationi

Cytoplasmcytoskeletoncilium axoneme By similarity

GO - Cellular componenti

  1. axonemal dynein complex Source: MGI
  2. axoneme Source: MGI
  3. microtubule Source: UniProtKB-KW
Complete GO annotation...

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, Primary ciliary dyskinesia

Organism-specific databases

MIMi612444. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA38669.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 605605Dynein intermediate chain 2, axonemalPRO_0000114659Add
BLAST

Proteomic databases

PaxDbiQ9GZS0.
PRIDEiQ9GZS0.

PTM databases

PhosphoSiteiQ9GZS0.

Expressioni

Tissue specificityi

Highly expressed in trachea and testis.

Gene expression databases

BgeeiQ9GZS0.
CleanExiHS_DNAI2.
ExpressionAtlasiQ9GZS0. baseline and differential.
GenevestigatoriQ9GZS0.

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

Protein-protein interaction databases

BioGridi122183. 1 interaction.
STRINGi9606.ENSP00000308312.

Structurei

3D structure databases

ProteinModelPortaliQ9GZS0.
SMRiQ9GZS0. Positions 195-249.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati150 – 20354WD 1Add
BLAST
Repeati208 – 24639WD 2Add
BLAST
Repeati253 – 29442WD 3Add
BLAST
Repeati301 – 34747WD 4Add
BLAST
Repeati355 – 39339WD 5Add
BLAST
Repeati399 – 43739WD 5Add
BLAST
Repeati443 – 48139WD 5Add
BLAST

Sequence similaritiesi

Belongs to the dynein intermediate chain family.Curated
Contains 7 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiNOG284872.
GeneTreeiENSGT00740000115518.
HOGENOMiHOG000259651.
HOVERGENiHBG013035.
InParanoidiQ9GZS0.
KOiK11143.
OrthoDBiEOG70GMF5.
PhylomeDBiQ9GZS0.
TreeFamiTF300553.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 5 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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 1, 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

Sequence cautioni

The sequence CAB70790.1 differs from that shown.Intron retention.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti70 – 701E → K in CAC17464 (Ref. 2) Curated
Sequence conflicti593 – 5931G → E in CAC17464 (Ref. 2) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti495 – 4951V → I.
Corresponds to variant rs28725418 [ dbSNP | Ensembl ].
VAR_061140
Natural varianti558 – 5581A → T.5 Publications
Corresponds to variant rs1979370 [ dbSNP | Ensembl ].
VAR_033880

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei450 – 46112Missing in isoform 2. 1 PublicationVSP_036541Add
BLAST

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]
XP_005257635.1. XM_005257578.1. [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.3. human. [Q9GZS0-1]
uc002jkg.3. human. [Q9GZS0-2]

Polymorphism databases

DMDMi311033373.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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]
XP_005257635.1. XM_005257578.1. [Q9GZS0-1]
UniGeneiHs.147472.

3D structure databases

ProteinModelPortaliQ9GZS0.
SMRiQ9GZS0. Positions 195-249.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122183. 1 interaction.
STRINGi9606.ENSP00000308312.

PTM databases

PhosphoSiteiQ9GZS0.

Polymorphism databases

DMDMi311033373.

Proteomic databases

PaxDbiQ9GZS0.
PRIDEiQ9GZS0.

Protocols and materials databases

DNASUi64446.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311014; ENSP00000308312; ENSG00000171595. [Q9GZS0-1]
ENST00000446837; ENSP00000400252; ENSG00000171595. [Q9GZS0-1]
ENST00000582036; ENSP00000461950; ENSG00000171595. [Q9GZS0-2]
GeneIDi64446.
KEGGihsa:64446.
UCSCiuc002jkf.3. human. [Q9GZS0-1]
uc002jkg.3. human. [Q9GZS0-2]

Organism-specific databases

CTDi64446.
GeneCardsiGC17P072292.
GeneReviewsiDNAI2.
H-InvDBHIX0027346.
HIX0202470.
HGNCiHGNC:18744. DNAI2.
HPAiCAB006245.
HPA050565.
MIMi605483. gene.
612444. phenotype.
neXtProtiNX_Q9GZS0.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA38669.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG284872.
GeneTreeiENSGT00740000115518.
HOGENOMiHOG000259651.
HOVERGENiHBG013035.
InParanoidiQ9GZS0.
KOiK11143.
OrthoDBiEOG70GMF5.
PhylomeDBiQ9GZS0.
TreeFamiTF300553.

Enzyme and pathway databases

SignaLinkiQ9GZS0.

Miscellaneous databases

GeneWikiiDNAI2.
GenomeRNAii64446.
NextBioi66463.
PROiQ9GZS0.
SOURCEiSearch...

Gene expression databases

BgeeiQ9GZS0.
CleanExiHS_DNAI2.
ExpressionAtlasiQ9GZS0. baseline and differential.
GenevestigatoriQ9GZS0.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 5 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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(1999) [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(1999)
    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.
    , 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(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. 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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT THR-558.
    Tissue: Brain.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 330-605, VARIANT THR-558.
    Tissue: Testis.
  7. Cited for: INVOLVEMENT IN CILD9.
  8. Cited for: INTERACTION WITH HEATR2.
  9. "Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia."
    Raidt J., Wallmeier J., Hjeij R., Onnebrink J.G., Pennekamp P., Loges N.T., Olbrich H., Haeffner K., Dougherty G.W., Omran H., Werner C.
    Eur. Respir. J. 44:1579-1588(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CILD9.

Entry informationi

Entry nameiDNAI2_HUMAN
AccessioniPrimary (citable) accession number: Q9GZS0
Secondary accession number(s): C9J0S6
, Q8IUW4, Q9H179, Q9NT53
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 18, 2002
Last sequence update: November 1, 2010
Last modified: March 31, 2015
This is version 124 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.