Manteia

ENSMUSG00000020973

Mus musculus

Features

Gene ID:	ENSMUSG00000020973

Biological name :	Dnaaf2

Synonyms :	Dnaaf2 / Protein kintoun / Q8BPI1

Possible biological names infered from orthology :	dynein axonemal assembly factor 2 / Q9NVR5

Species:	Mus musculus

Chr. number:	12
Strand:	-1
Band:	C2
Gene start:	69189087
Gene end:	69198429

Corresponding Affymetrix probe sets:	10400642 (MoGene1.0st) 1453183_at (Mouse Genome 430 2.0 Array) 1454968_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000021356 NCBI entrez gene - 109065 See in Manteia. MGI - MGI:1923566 RefSeq - NM_027269 RefSeq - XM_017314934 RefSeq Peptide - NP_081545 swissprot - Q8BPI1 Ensembl - ENSMUSG00000020973

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
dnaaf2	ENSDARG00000103132	Danio rerio
DNAAF2	ENSGALG00000012232	Gallus gallus
DNAAF2	ENSG00000165506	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
AC099934.1 / DNAAF2* / Q9NVR5* / dynein axonemal assembly factor 2*	ENSMUSG00000113149	28

Protein motifs (from Interpro)

Interpro ID	Name
IPR008978	HSP20-like chaperone
IPR012981	PIH1 domain
IPR034727	Kintoun

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0010033	response to organic substance	IDA
biological_process	GO:0032526	response to retinoic acid	IDA
biological_process	GO:0060285	cilium-dependent cell motility	ISO
biological_process	GO:0070286	axonemal dynein complex assembly	IBA
cellular_component	GO:0005737	cytoplasm	ISS
cellular_component	GO:0005829	cytosol	ISO
cellular_component	GO:0036064	ciliary basal body	ISO
molecular_function	GO:0005515	protein binding	IPI

Pathways (from Reactome)

Pathway description

No match

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000644	dextrocardia	"cardiac apex pointing to the right as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Usp14^ax-J/Usp14^ax-J Genetic Background: B6.Cg-Usp14^ax-J
MP:0001265	reduced body size	"smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]	Show Allelic Composition: Usp14^ax-J/Usp14^ax-J Genetic Background: B6.Cg-Usp14^ax-J
MP:0001732	postnatal growth retardation	"slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Usp14^ax-J/Usp14^ax-J Genetic Background: B6.Cg-Usp14^ax-J
MP:0001891	hydroencephaly	"excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]	Show Allelic Composition: Usp14^ax-J/Usp14^ax-J Genetic Background: B6.Cg-Usp14^ax-J
MP:0002285	abnormal tracheal ciliated epithelium morphology	"structural anomaly of the epithelial lining of the trachea which contains numerous ciliated cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology:ISBN 0-397-51047-0]	Show Allelic Composition: Usp14^ax-J/Usp14^ax-J Genetic Background: B6.Cg-Usp14^ax-J
MP:0002590	increased mean corpuscular volume	"greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Diaph3^{tm1b(KOMP)Mbp}/Diaph3^{tm1b(KOMP)Mbp} Genetic Background: C57BL/6N-Diaph3^{tm1b(KOMP)Mbp}/J
MP:0004133	heterotaxia	"abnormal arrangement of organs or parts of the body in relation to each other" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Usp14^ax-J/Usp14^ax-J Genetic Background: B6.Cg-Usp14^ax-J
MP:0005633	increased circulating sodium level	"greater than the normal concentration in the blood of this metallic element, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]	Show Allelic Composition: Diaph3^{tm1b(KOMP)Mbp}/Diaph3^{tm1b(KOMP)Mbp} Genetic Background: C57BL/6N-Diaph3^{tm1b(KOMP)Mbp}/J
MP:0006254	thin cerebral cortex	"decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]	Show Allelic Composition: Usp14^ax-J/Usp14^ax-J Genetic Background: B6.Cg-Usp14^ax-J
MP:0008535	enlarged lateral ventricles	"increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MESH:A08.186.211.276.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Usp14^ax-J/Usp14^ax-J Genetic Background: B6.Cg-Usp14^ax-J
MP:0010808	right-sided stomach	"stomach is present on the right side of the body instead of the left" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Usp14^ax-J/Usp14^ax-J Genetic Background: B6.Cg-Usp14^ax-J
MP:0011056	abnormal brain ependyma motile cilium morphology	"any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Usp14^ax-J/Usp14^ax-J Genetic Background: B6.Cg-Usp14^ax-J
MP:0011069	abnormal brain ependyma motile cilium physiology	"any functional anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Usp14^ax-J/Usp14^ax-J Genetic Background: B6.Cg-Usp14^ax-J
MP:0011086	partial postnatal lethality	"the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]	Show Allelic Composition: Usp14^ax-J/Usp14^ax-J Genetic Background: B6.Cg-Usp14^ax-J
MP:0011100	complete preweaning lethality	"death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]	Show Allelic Composition: Diaph3^{tm1b(KOMP)Mbp}/Diaph3^{tm1b(KOMP)Mbp} Genetic Background: C57BL/6N-Diaph3^{tm1b(KOMP)Mbp}/J
MP:0011249	abdominal situs inversus	"lateral transposition or mirroring of the viscera of the abdomen, sometimes incomplete, with all organs maintaining the normal relative position with respect to each other" [MGI:csmith]	Show Allelic Composition: Usp14^ax-J/Usp14^ax-J Genetic Background: B6.Cg-Usp14^ax-J
MP:0011252	situs inversus totalis	"the complete right to left reversal (transposition) of the thoracic and abdominal organs, including the heart (dextrocardia)" [MGI:csmith]	Show Allelic Composition: Usp14^ax-J/Usp14^ax-J Genetic Background: B6.Cg-Usp14^ax-J
MP:0011380	enlarged brain ventricle	"increased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord" [MGI:smb]	Show Allelic Composition: Usp14^ax-J/Usp14^ax-J Genetic Background: B6.Cg-Usp14^ax-J
MP:0011396	abnormal sleep behavior	"any anomaly in the actions, reactions, or performance of an organism during a periodic, readily reversible state of reduced awareness and metabolic activity" [MGI:smb]	Show Allelic Composition: Diaph3^{tm1b(KOMP)Mbp}/Diaph3^{tm1b(KOMP)Mbp} Genetic Background: C57BL/6N-Diaph3^{tm1b(KOMP)Mbp}/J
MP:0011649	immotile respiratory cilia	"failure of the multiple epithelial tiny, motile hair-like projections of the repiratory tract epithelium to beat with a characteristic whip-like pattern in order to promote transport of fluids and other cells across the epithelium of the respiratory tract" [MGI:csmith]	Show Allelic Composition: Usp14^ax-J/Usp14^ax-J Genetic Background: B6.Cg-Usp14^ax-J
MP:0013292	embryonic lethality prior to organogenesis	"death prior to the completion of embryo turning (Mus: E9-9.5)" [MGI:smb]	Show Allelic Composition: Diaph3^{tm1b(KOMP)Mbp}/Diaph3^{tm1b(KOMP)Mbp} Genetic Background: C57BL/6N-Diaph3^{tm1b(KOMP)Mbp}/J

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

0 s.

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr