ENSMUSG00000039801


Mus musculus

Features
Gene ID: ENSMUSG00000039801
  
Biological name :2410089E03Rik
  
Synonyms : 2410089E03Rik / Protein JBTS17 / Q8CE72
  
Possible biological names infered from orthology : C5orf42 / chromosome 5 open reading frame 42 / Q9H799
  
Species: Mus musculus
  
Chr. number: 15
Strand: 1
Band: A1
Gene start: 8169106
Gene end: 8271158
  
Corresponding Affymetrix probe sets: 10422892 (MoGene1.0st)   10422912 (MoGene1.0st)   10570002 (MoGene1.0st)   1437439_at (Mouse Genome 430 2.0 Array)   1441571_at (Mouse Genome 430 2.0 Array)   1443422_at (Mouse Genome 430 2.0 Array)   1443691_at (Mouse Genome 430 2.0 Array)   1444220_at (Mouse Genome 430 2.0 Array)   1452951_at (Mouse Genome 430 2.0 Array)   1458493_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000106247
Ensembl peptide - ENSMUSP00000154760
NCBI entrez gene - 73692     See in Manteia.
MGI - MGI:1920942
RefSeq - XM_011245336
RefSeq - NM_001162906
RefSeq - XM_006520002
RefSeq - XM_011245335
RefSeq - XM_006519997
RefSeq - XM_006519998
RefSeq - XM_006519999
RefSeq - XM_006520000
RefSeq - XM_006520001
RefSeq Peptide - NP_001156378
swissprot - Q8CE72
Ensembl - ENSMUSG00000039801
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ENSGALG00000003631Gallus gallus
 Q9H799ENSG00000197603Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR028236  Joubert syndrome-associated protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001736 establishment of planar polarity IMP
 biological_processGO:0001822 kidney development IMP
 biological_processGO:0003279 cardiac septum development IMP
 biological_processGO:0003281 ventricular septum development IMP
 biological_processGO:0007507 heart development IMP
 biological_processGO:0021549 cerebellum development IMP
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0042733 embryonic digit morphogenesis IMP
 biological_processGO:0060021 roof of mouth development IMP
 biological_processGO:0060271 cilium assembly IEA
 biological_processGO:0060976 coronary vasculature development IMP
 biological_processGO:1904491 protein localization to ciliary transition zone IMP
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0035869 ciliary transition zone IDA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0000137 abnormal vertebrae morphology "malformed bony segment of the spinal column" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0000157 abnormal sternum morphology "malformed long flat bone of the chest; articulates with clavicle and first seven rib pairs" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:19212]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0000284 double outlet right ventricle "both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0000460 mandible hypoplasia "arrested growth or atrophy of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator, J:54637]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0000562 polydactyly "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0000762 abnormal tongue morphology "anomalous structure or development of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0000849 abnormal cerebellum morphology "any malformation or absence of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0001178 pulmonary hypoplasia "reduced size of the respiratory organ due to incomplete development of all or part of the organ " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology , 2nd edition:ISBN 0-397-51047-0]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0001792 impaired wound healing "reduced ability or inability to self-repair and close wounds" [J:65302, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0002192 hydrops fetalis "an abnormal accumulation of serous fluid in fetal tissues" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0002244 abnormal turbinate morphology "any structural anomaly of the bony plates of the lateral wall of the nasal cavity " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0002633 persistent truncus arteriosis "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0002639 micrognathia "abnormally reduced size of the jaws, especially of the mandible" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0002705 dilated renal tubules "enlarged lumens of the loops of Henle and/or collecting ducts of the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0003675 kidney cysts "abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0004017 duplex kidney "a kidney that is split into two separate collecting systems; there may be a duplex ureter or a single ureter; may present unilaterally or bilaterally" [rbabiuk:Randall Babiuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0004158 right aortic arch "the aortic arch lies to the right of the trachea and esophagus; results from persistance of the entire right dorsal arch and involution of a segment of the left arch" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0004320 split sternum "the appearance of an abnormal division in the long flat bone of the chest which articulates with clavicle and first seven rib pairs" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0004624 abnormal thoracic cage "any structural anomaly of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0004686 decreased length of long bones "reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0005170 cleft lip "defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0006046 atrioventricular valve insufficiency "the atrioventricular valves do not close tightly enough to prevent leakage" [smb:Susan M Bello, Mouse Genome Informatics Curator, RGD:Rat Genome Database submission]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0006047 aortic valve insufficiency "the aortic valve does not close tightly enough to prevent leakage. " [smb:Susan M Bello, Mouse Genome Informatics Curator, RGD:Rat Genome Database submission]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0006130 pulmonary valve atresia "congenital closure of the pulmonary valve" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0009743 preaxial polydactyly "duplication of all or part of the first ray on one or more of the autopods" [PMID:19125433]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0010158 abnormal intestine development "abnormal formation of the digestive tube passing from the stomach to the anus" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0010402 ventricular septal defect "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0010406 absent atrial septum "absence of the thin membranous structure between the two heart atria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0010412 atrioventricular septal defect "defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD)" [http://emedicine.medscape.com]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0010413 complete atrioventricular septal defect "a type of atrioventricular septal defect in which a single atrioventricular valve annulus, a common atrioventricular valve, and a defect of the inlet ventricular septum are observed; deficiency of the atrioventricular septum also results in the presence of a large primum atrial septal defect" [http://emedicine.medscape.com]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0010420 muscular ventricular septal defect "abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect" [http://emedicine.medscape.com]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0010460 pulmonary artery hypoplasia "underdevelopment or reduced size of the artery that arises from the right ventricle and conveys unaerated blood to the lungs, usually due to reduced cell number" [MESH:A07.231.114.715]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0011066 abnormal renal tubule epithelial cell primary cilium morphology "any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:17995581]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0011101 partial prenatal 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 between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0011884 absent colon "absence of the portion of the large intestine between the cecum and the rectum" [MGI:Colin_McKerlie]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0012285 misaligned sternebrae "abnormal alignment of the sternebrae along the ventral midline" [MGI:anna]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0013203 abnormal primary cilium morphology "any structural anomaly of a cilium found on many different cell types that is typically present in a single copy per cell; a primary cilium may have a variable array of axonemal microtubules and may or may not contain molecular motors" [GO:0072372]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

 MP:0013205 abnormal nonmotile primary cilium morphology "any structural anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate and organize sensory signaling molecules" [GO:0031513]
Show

Allelic Composition: Ulk2tm1Thsn/Ulk2tm1Thsn
Genetic Background: B6.129-Ulk2tm1Thsn

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2025
contact: otassy@igbmc.fr