ENSMUSG00000020994


Mus musculus

Features
Gene ID: ENSMUSG00000020994
  
Biological name :Pnn
  
Synonyms : pinin / Pnn
  
Possible biological names infered from orthology : pinin, desmosome associated protein / Q9H307
  
Species: Mus musculus
  
Chr. number: 12
Strand: 1
Band: C1
Gene start: 59066884
Gene end: 59073998
  
Corresponding Affymetrix probe sets: 10395910 (MoGene1.0st)   1423324_at (Mouse Genome 430 2.0 Array)   1423325_at (Mouse Genome 430 2.0 Array)   1450938_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000151381
Ensembl peptide - ENSMUSP00000021381
NCBI entrez gene - 18949     See in Manteia.
MGI - MGI:1100514
RefSeq - NM_008891
RefSeq Peptide - NP_032917
swissprot - A0A1W2P6S1
swissprot - Q3TUQ5
Ensembl - ENSMUSG00000020994
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pnnENSDARG00000015851Danio rerio
 PNNENSGALG00000010167Gallus gallus
 PNNENSG00000100941Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR006786  Pinin/SDK/MemA protein
 IPR006787  Pinin/SDK


Gene Ontology (GO)
TypeGO IDTermEv.Code
 cellular_componentGO:0016607 nuclear speck IEA
 cellular_componentGO:0035145 exon-exon junction complex IEA
 cellular_componentGO:0071013 catalytic step 2 spliceosome 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]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0000150 abnormal rib morphology "malformed bones forming the bony wall of the chest" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:50311]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0000154 rib fusion "appearance of one or more ribs as a single structure" [J:62022, J:62023]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 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]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0000379 reduced hair follicle number "fewer number of the epidermal invaginations from which the hair shaft develops" [J:15108]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0001243 abnormal dermal layer morphology "malformed or atypical condition of the dermal layer of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:56777]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0001244 thin dermal layer "reduced thickness of the dermis" [J:65030]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0001303 abnormal lens morphology "malformed transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0001312 abnormal cornea morphology "malformation or absence of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0001319 irregularly shaped pupil "shape defects in the aperture of the iris through which light rays enter the eye, usually circular " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pfn1tm1a(EUCOMM)Wtsi/Pfn1+
Genetic Background: B6Brd;B6Dnk;B6N-Tyrc-Brd Pfn1tm1a(EUCOMM)Wtsi/Wtsi

 MP:0001693 failure of primitive streak formation "inability to form the epiblast ridge from which arises the germ layers of the embryo" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33880]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0001696 failure to gastrulate "inability to differentiate and invaginate the primary germ layers" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:34458]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0001780 decreased brown fat amount "reduced quantity of this thermogenic form of adipose tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 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: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 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: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0004616 lumbar vertebral transformation "homeotic transformation of any lumbar vertebrae to adopt the fate of another vertebrae" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0005300 abnormal corneal stroma morphology "structural anomaly of the lamellated connective tissue of the cornea" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0006126 abnormal outflow tract development "anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 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]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0011094 complete embryonic lethality before implantation "death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5)" [MGI:csmith]
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Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 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]
Show

Allelic Composition: Gt(ROSA)26Sortm1.1(rtTA,tetO-cre)Bkmn/Gt(ROSA)26Sor+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 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]
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Allelic Composition: Pfn1tm1a(EUCOMM)Wtsi/Pfn1+
Genetic Background: B6Brd;B6Dnk;B6N-Tyrc-Brd Pfn1tm1a(EUCOMM)Wtsi/Wtsi

 MP:0013292 embryonic lethality prior to organogenesis "death prior to the completion of embryo turning (Mus: E9-9.5)" [MGI:smb]
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Allelic Composition: Pfn1tm1a(EUCOMM)Wtsi/Pfn1+
Genetic Background: B6Brd;B6Dnk;B6N-Tyrc-Brd Pfn1tm1a(EUCOMM)Wtsi/Wtsi

 MP:0013293 embryonic lethality prior to tooth bud stage "death prior to the appearance of tooth buds (Mus: E12-E12.5)" [MGI:smb]
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Allelic Composition: Pfn1tm1a(EUCOMM)Wtsi/Pfn1+
Genetic Background: B6Brd;B6Dnk;B6N-Tyrc-Brd Pfn1tm1a(EUCOMM)Wtsi/Wtsi

  


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






 

0 s.

 
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