ENSMUSG00000034601


Mus musculus

Features
Gene ID: ENSMUSG00000034601
  
Biological name :2700049A03Rik
  
Synonyms : 2700049A03Rik / E9PV87 / RIKEN cDNA 2700049A03 gene
  
Possible biological names infered from orthology : KIAA0586 / Q9BVV6
  
Species: Mus musculus
  
Chr. number: 12
Strand: 1
Band: C2
Gene start: 71136848
Gene end: 71243303
  
Corresponding Affymetrix probe sets: 10396237 (MoGene1.0st)   1429595_at (Mouse Genome 430 2.0 Array)   1437248_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000118956
Ensembl peptide - ENSMUSP00000044701
Ensembl peptide - ENSMUSP00000114210
NCBI entrez gene - 76967     See in Manteia.
MGI - MGI:1924217
RefSeq - XM_011244208
RefSeq - NM_001163378
RefSeq - NM_029818
RefSeq - XM_006516364
RefSeq - XM_006516365
RefSeq - XM_006516366
RefSeq Peptide - NP_084094
RefSeq Peptide - NP_001156850
swissprot - F6ZIY2
swissprot - E9Q0E2
swissprot - E9PV87
Ensembl - ENSMUSG00000034601
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CU179699.1ENSDARG00000096963Danio rerio
 TA3ENSGALG00000012025Gallus gallus
 Q9BVV6ENSG00000100578Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR029246  Protein TALPID3


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007224 smoothened signaling pathway IEA
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0060271 cilium assembly IEA
 biological_processGO:0070201 regulation of establishment of protein localization IEA
 cellular_componentGO:0001917 photoreceptor inner segment IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005814 centriole IBA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0036064 ciliary basal body 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:0000358 abnormal cell content/ morphology "structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

Allelic Composition: 2700049A03Riktm1Blnw/2700049A03Riktm1Blnw
Genetic Background: Not Specified

 MP:0000547 short limbs "reduced average length of the extremities" [MGI:CLS, J:61509]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0000554 abnormal carpal bone morphology "malformation of the nine nodular bones of the joint between the forelimb bones and the front paws consisting of the scapholunar, triangular, greater multiangular, lesser multiangular, capitate, hamate, centrale and the sesamoids" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Anatomy of the Rat:Greene, EC, Hafner Publishing Co, 1935]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0000562 polydactyly "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0001706 abnormal left-right axis patterning "anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0002110 abnormal digit morphology "abnormal development of the digits resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0002113 abnormal skeleton development "anomalous differentiation or remodeling of bone tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 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]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0002544 brachydactyly "abnormally short digits" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0002764 short tibia " reduced length of the medial and larger bone of the lower leg" [J:12736, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0002765 short fibula "reduced length of the lateral and smaller of bone of the lower leg" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:12736]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0003055 abnormal epiphyseal plate morphology "malformed or absent cartilagenous center of ossification on the long bones permitting growth of the bone in both directions during development" [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0003109 short femur "reduced length of the long bone of the thigh" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0003742 narrow head "a shorter ear- to -ear distance resulting in the appearance of a thin face and a protruding nasal region" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0004083 polysyndactyly "greater than 5 digits present on an autopod with interdigital webbing also present" [rbabiuk:Randall Babiuk, Mouse Genome Informatics Curator]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0004132 absent embryonic cilia "absence of cilia on the cells of the embryonic node " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0004252 abnormal direction of looping morphogenesis "deviation from the normal rightward direction of cardiac looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0004340 short scapula "reduced length of either or both of the large, flat bones of the back part of the shoulder" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0004351 short humerus "reduced length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0004355 short radius "reduced length of the short bone of the lateral forearm" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0004359 short ulna "reduced length of the medial and larger of the two bones of the forearm" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0004576 abnormal foot plate morphology "any structural anomaly of the distal elements of the developing limb of vertebrates that will give rise to the pedal appendages (e.g. hand, foot, paw)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 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: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0006280 abnormal digit development "anomaly in the formation of the digits" [J:70592, MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0008272 abnormal endochondral bone ossification "anomaly in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0009902 abnormal lateral nasal prominence morphology "any structural anomaly of the lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0009903 abnormal medial nasal prominence morphology "any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0011261 abnormal limb mesenchyme morphology "any structural anomaly in the primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells" [ISBN:0-683-40008-8, MGI:csmith]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

 MP:0011708 decreased fibroblast cell migration "reduced frequency of or less rapid cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium" [MGI:csmith]
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Allelic Composition: Ppp2r1atm2.1Wltr/Ppp2r1atm2.1Wltr
Genetic Background: FVB.129-Ppp2r1atm2.1Wltr

  


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






 

1 s.

 
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