DNAAF2

Last updated
DNAAF2
Identifiers
Aliases DNAAF2 , C14orf104, CILD10, KTU, PF13, dynein (axonemal) assembly factor 2, dynein axonemal assembly factor 2
External IDs OMIM: 612517 MGI: 1923566 HomoloGene: 10026 GeneCards: DNAAF2
Gene location (Human)
Ideogram human chromosome 14.svg
Chr. Chromosome 14 (human) [1]
Human chromosome 14 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 14q21.3Start49,625,174 bp [1]
End49,635,230 bp [1]
Orthologs
SpeciesHumanMouse
Entrez

55172

109065

Ensembl

ENSG00000165506

ENSMUSG00000020973

UniProt

Q9NVR5

Q8BPI1

RefSeq (mRNA)

NM_018139
NM_001083908
NM_001378453

NM_027269

RefSeq (protein)

NP_001077377
NP_060609
NP_001365382

NP_081545

Location (UCSC) Chr 14: 49.63 – 49.64 Mb Chr 12: 69.19 – 69.2 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Kintoun, is a protein that is encoded by the DNAAF2 gene. [5] [6]

Contents

Function

Kintoun is a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for ciliogenesis. [5]

Clinical significance

Mutations in DNAAF2 are associated with primary ciliary dyskinesia. [7]

Related Research Articles

DNAH5

Dynein heavy chain 5, axonemal is a protein that in humans is encoded by the DNAH5 gene.

DNAH9

Dynein heavy chain 9, axonemal is a protein that in humans is encoded by the DNAH9 gene.

NUDCD3

NudC domain-containing protein 3 is a protein that in humans is encoded by the NUDCD3 gene.

DNAI1

Dynein intermediate chain 1, axonemal is a protein that in humans is encoded by the DNAI1 gene.

SPEF2

Sperm flagellar protein 2 is a protein that in humans is encoded by the SPEF2 gene.

IFT20

Intraflagellar transport protein 20 homolog is a protein that in humans is encoded by the IFT20 gene. The gene is composed of 6 exons and is located on human chromosome 17p11.1. This gene is expressed in human brain, lung, kidney and pancreas, and lower expression were also detected in human placenta, liver, thymus, prostate and testis.

DNAH11

Dynein heavy chain 11, axonemal is a protein that in humans is encoded by the DNAH11 gene.

LRRC50

Leucine-rich repeat-containing protein 50 is a protein that in humans is encoded by the LRRC50 gene.

RSPH9

Radial spoke head protein 9 homolog is a protein that in humans is encoded by the RSPH9 gene.

RSPH4A

Radial spoke head protein 4 homolog A, also known as radial spoke head-like protein 3, is a protein that in humans is encoded by the RSPH4A gene.

DNAI2

Dynein intermediate chain 2, axonemal, also known as axonemal dynein intermediate chain 2, is a protein that in humans is encoded by the DNAI2 gene.

NME8

Thioredoxin domain-containing protein 3 (TXNDC3), also known as spermatid-specific thioredoxin-2 (Sptrx-2), is a protein that in humans is encoded by the NME8 gene on chromosome 7.

ARL13B

ADP-ribosylation factor-like protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B gene.

DNAL1

Dynein light chain 1, axonemal is a protein that in humans is encoded by the DNAL1 gene.

RSPH6A

Radial spoke head protein 6 homolog A (RSPH6A) also known as radial spoke head-like protein 1 (RSHL1) is a protein that in humans is encoded by the RSPH6A gene.

RSPH1

Radial spoke head 1 homolog (RSPH1), also known as cancer/testis antigen 79 (CT79) or testis-specific gene A2 protein (TSGA2), is a protein that in humans is encoded by the RSPH1 gene.

DNAH7

Dynein, axonemal, heavy chain 7 is a protein in humans that is encoded by the DNAH7 gene.

CCDC40 (gene)

CCDC40 is the gene in humans that encodes the protein named coiled-coil domain containing 40.

CCDC151

Coiled-coil domain containing 151 is a protein that in humans is encoded by the CCDC151 gene.

DNAH1

Dynein axonemal heavy chain 1 is a protein that in humans is encoded by the DNAH1 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000165506 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020973 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: chromosome 14 open reading frame 104".
  6. ↑ Omran H, Kobayashi D, Olbrich H, Tsukahara T, Loges NT, Hagiwara H, Zhang Q, Leblond G, O'Toole E, Hara C, Mizuno H, Kawano H, Fliegauf M, Yagi T, Koshida S, Miyawaki A, Zentgraf H, Seithe H, Reinhardt R, Watanabe Y, Kamiya R, Mitchell DR, Takeda H (December 2008). "Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins". Nature. 456 (7222): 611–6. doi:10.1038/nature07471. PMC   3279746 . PMID   19052621.
  7. ↑ Online Mendelian Inheritance in Man (OMIM): 612517

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.