ENSMUSG00000038122


Mus musculus

Features
Gene ID: ENSMUSG00000038122
  
Biological name :Tbc1d32
  
Synonyms : Q3URV1 / Tbc1d32 / TBC1 domain family, member 32
  
Possible biological names infered from orthology : Q96NH3
  
Species: Mus musculus
  
Chr. number: 10
Strand: -1
Band: B4
Gene start: 56014293
Gene end: 56228689
  
Corresponding Affymetrix probe sets: 10369176 (MoGene1.0st)   1440928_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000097328
NCBI entrez gene - 544696     See in Manteia.
MGI - MGI:2442827
RefSeq - XM_011243192
RefSeq - NM_001033385
RefSeq - XM_011243191
RefSeq Peptide - NP_001028557
swissprot - Q3URV1
Ensembl - ENSMUSG00000038122
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Q5RHR6ENSDARG00000041734Danio rerio
 TBC1D32ENSGALG00000014876Gallus gallus
 Q96NH3ENSG00000146350Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR032735  Protein broad-minded
 IPR035969  Rab-GTPase-TBC domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002088 lens development in camera-type eye IMP
 biological_processGO:0003406 retinal pigment epithelium development IMP
 biological_processGO:0007224 smoothened signaling pathway IMP
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007368 determination of left/right symmetry IMP
 biological_processGO:0007507 heart development IMP
 biological_processGO:0021915 neural tube development IMP
 biological_processGO:0035082 axoneme assembly ISO
 biological_processGO:0042733 embryonic digit morphogenesis IMP
 biological_processGO:0043010 camera-type eye development IMP
 biological_processGO:0060041 retina development in camera-type eye IMP
 biological_processGO:0060831 smoothened signaling pathway involved in dorsal/ventral neural tube patterning IGI
 biological_processGO:0061512 protein localization to cilium IMP
 biological_processGO:1905515 non-motile cilium assembly IMP
 cellular_componentGO:0005575 cellular_component ND
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005515 protein binding IPI


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: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

Allelic Composition: Tbc1d32b2b2596Clo/Tbc1d32b2b2596Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2596Clo

 MP:0000273 overriding aorta "congenitally mispositioned aorta where the origin straddles the ventral septum and so receives ejected blood from the right ventricle as well as the left." [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cml, J:67826]
Show

Allelic Composition: Tbc1d32b2b2596Clo/Tbc1d32b2b2596Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2596Clo

 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: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
Show

Allelic Composition: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

Allelic Composition: Tbc1d32b2b3260.1Clo/Tbc1d32b2b3260.1Clo
Genetic Background: C57BL/6J-Tbc1d32b2b3260.1Clo

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

Allelic Composition: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

Allelic Composition: Tbc1d32b2b2596Clo/Tbc1d32b2b2596Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2596Clo

 MP:0000650 mesocardia "cardiac apex pointing to the middle as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

 MP:0000694 spleen hypoplasia "small size due to reduced cell number in the spleen" [J:43971]
Show

Allelic Composition: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Tbc1d32Gt(RRF165)Byg/Tbc1d32Gt(RRF165)Byg
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ

Allelic Composition: Tbc1d32bromi/Tbc1d32Gt(RRF165)Byg
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ * C57BL/6J

Allelic Composition: Tbc1d32b2b2596Clo/Tbc1d32b2b2596Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2596Clo

Allelic Composition: Tbc1d32b2b3260.1Clo/Tbc1d32b2b3260.1Clo
Genetic Background: C57BL/6J-Tbc1d32b2b3260.1Clo

 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: Tbc1d32b2b2596Clo/Tbc1d32b2b2596Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2596Clo

 MP:0001286 abnormal eye development "malformation or arrest of differentiation of the visual organ" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:49840]
Show

Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Tbc1d32Gt(RRF165)Byg/Tbc1d32Gt(RRF165)Byg
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ

Allelic Composition: Tbc1d32bromi/Tbc1d32Gt(RRF165)Byg
Genetic Background: involves: 129P2/OlaHsd * C3HeB/FeJ * C57BL/6J

 MP:0001293 anophthalmia "congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]
Show

Allelic Composition: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

Allelic Composition: Tbc1d32b2b2596Clo/Tbc1d32b2b2596Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2596Clo

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
Show

Allelic Composition: Tbc1d32b2b2596Clo/Tbc1d32b2b2596Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2596Clo

 MP:0001306 small lens "reduced size of the transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Prickle1tm1Asw/Prickle1tm1.2Asw
Genetic Background: Not Specified

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 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: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

Allelic Composition: Tbc1d32b2b2596Clo/Tbc1d32b2b2596Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2596Clo

Allelic Composition: Tbc1d32b2b3260.1Clo/Tbc1d32b2b3260.1Clo
Genetic Background: C57BL/6J-Tbc1d32b2b3260.1Clo

 MP:0002746 abnormal semilunar valve morphology "malformation of the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:82728]
Show

Allelic Composition: Tbc1d32b2b3260.1Clo/Tbc1d32b2b3260.1Clo
Genetic Background: C57BL/6J-Tbc1d32b2b3260.1Clo

 MP:0002984 retina hypoplasia "less than normal number of cells in the thin layer of neural tissue lining the back of the eyeball which contains visual receptors" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:80994]
Show

Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0003178 left pulmonary isomerism "bilaterally symmetric left lung pattern (or altered asymmetric patterning of the lung)" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93051]
Show

Allelic Composition: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

 MP:0003321 tracheoesophageal fistula "an abnormal passage between the esophagus and the trachea, acquired or congenital, often associated with esophageal atresia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

Allelic Composition: Tbc1d32b2b2596Clo/Tbc1d32b2b2596Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2596Clo

 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: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

Allelic Composition: Tbc1d32b2b2596Clo/Tbc1d32b2b2596Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2596Clo

 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: Tbc1d32b2b2596Clo/Tbc1d32b2b2596Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2596Clo

 MP:0004110 transposition of great arteries "cardiovascular malformation in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Tbc1d32b2b3260.1Clo/Tbc1d32b2b3260.1Clo
Genetic Background: C57BL/6J-Tbc1d32b2b3260.1Clo

 MP:0004113 abnormal aortic arch morphology "structural anomoly of the portion of the descending aorta proceeding from the arch of the aorta and extending to the diaphragm " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

 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: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

 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: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

 MP:0004261 abnormal embryonic neuroepithelium morphology "any structural anomaly in the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition", MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0004548 dilated esophagus "an expansion in the lumen volume of the part of the digestive canal through which food passes from the pharynx to the stomach" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

 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: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

Allelic Composition: Tbc1d32b2b2596Clo/Tbc1d32b2b2596Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2596Clo

 MP:0005201 abnormal retinal pigment epithelium morphology "anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Dag1tm2Kcam/Dag1tm2Kcam,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0006061 right atrial isomerism "altered asymmetric patterning of the atria" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

Allelic Composition: Tbc1d32b2b2596Clo/Tbc1d32b2b2596Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2596Clo

 MP:0006063 abnormal inferior vena cava morphology "structural malformation in the principal vein draining blood from the lower portion of the body" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99]
Show

Allelic Composition: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

 MP:0008461 left atrial isomerism "anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the left side of the body" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

 MP:0008797 facial cleft "a cleft resulting from incomplete merging or fusion of any of the embryonic facial processes that normally unite to form the face" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rspo2ftls/Rspo2ftls
Genetic Background: Not Specified

 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: Dag1tm2Kcam/Dag1tm2Kcam,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Tbc1d32b2b2284Clo/Tbc1d32b2b2284Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2284Clo

Allelic Composition: Tbc1d32b2b3260.1Clo/Tbc1d32b2b3260.1Clo
Genetic Background: C57BL/6J-Tbc1d32b2b3260.1Clo

 MP:0009901 abnormal frontonasal prominence morphology "any structural anomaly of an unpaired facial process in the embryo formed from the tissues surrounding the forebrain vesicle that develops into the forehead and bridge of the nose/snout" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Tbc1d32b2b2596Clo/Tbc1d32b2b2596Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2596Clo

 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: Tbc1d32b2b2284Clo/Tbc1d32b2b2284Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2284Clo

Allelic Composition: Tbc1d32b2b2596Clo/Tbc1d32b2b2596Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2596Clo

 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: Tbc1d32b2b2284Clo/Tbc1d32b2b2284Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2284Clo

 MP:0010466 vascular ring "the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches" [http://emedicine.medscape.com]
Show

Allelic Composition: Tbc1d32b2b2284Clo/Tbc1d32b2b2284Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2284Clo

 MP:0010576 premature closure of the ductus arteriosus "premature regression of the ductus arteriosus that normally regresses into a fibrous cord, the ligamentum arteriousum after birth" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tbc1d32b2b2284Clo/Tbc1d32b2b2284Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2284Clo

 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: Tbc1d32b2b2284Clo/Tbc1d32b2b2284Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2284Clo

 MP:0011661 persistent truncus arteriosus type i "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type i is characterized by origin of a single pulmonary trunk from the left lateral aspect of the common trunk, with branching of the left and right pulmonary arteries from the pulmonary trunk" [http://emedicine.medscape.com]
Show

Allelic Composition: Tbc1d32b2b2596Clo/Tbc1d32b2b2596Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2596Clo

 MP:0011683 dual inferior vena cava "presence of two inferior vena cavae, often resulting from the persistence of both supracardinal veins during development; the two structures may be symmetric or asymmetric but typically join together at the renal vein" [MGI:csmith, PMID:10835118]
Show

Allelic Composition: Tbc1d32b2b2596Clo/Tbc1d32b2b2596Clo
Genetic Background: C57BL/6J-Tbc1d32b2b2596Clo

  


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






 

0 s.

 
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