ENSMUSG00000016637


Mus musculus

Features
Gene ID: ENSMUSG00000016637
  
Biological name :Ift27
  
Synonyms : Ift27 / Intraflagellar transport / Q9D0P8
  
Possible biological names infered from orthology : intraflagellar transport 27 / Q9BW83
  
Species: Mus musculus
  
Chr. number: 15
Strand: -1
Band: E1
Gene start: 78159463
Gene end: 78174107
  
Corresponding Affymetrix probe sets: 10430289 (MoGene1.0st)   1424648_at (Mouse Genome 430 2.0 Array)   1434299_x_at (Mouse Genome 430 2.0 Array)   1435736_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000016781
Ensembl peptide - ENSMUSP00000155127
Ensembl peptide - ENSMUSP00000155736
NCBI entrez gene - 67042     See in Manteia.
MGI - MGI:1914292
RefSeq - NM_025931
RefSeq Peptide - NP_080207
swissprot - Q9D0P8
Ensembl - ENSMUSG00000016637
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 IFT27ENSGALG00000042990Gallus gallus
 IFT27ENSG00000100360Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR001806  Small GTPase superfamily
 IPR005225  Small GTP-binding protein domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006886 intracellular protein transport IEA
 biological_processGO:0007224 smoothened signaling pathway IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0042073 intraciliary transport IEA
 biological_processGO:0060122 inner ear receptor cell stereocilium organization IMP
 biological_processGO:0090102 cochlea development IMP
 cellular_componentGO:0005768 endosome IBA
 cellular_componentGO:0005794 Golgi apparatus IBA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005929 cilium TAS
 cellular_componentGO:0030992 intraciliary transport particle B IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0097225 sperm midpiece IDA
 cellular_componentGO:0097228 sperm principal piece IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005525 GTP binding IEA


Pathways (from Reactome)
Pathway description
Intraflagellar transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0000297 abnormal endocardial cushion morphology "malformation of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0000378 absent hair follicles "missing epidermal invaginations from which the hair shaft develops" [J:65039]
Show

Allelic Composition: Taar1tm1(KOMP)Vlcg/Taar1tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6NTac

 MP:0000380 small hair follicles "reduced size of the invagination of the epidermis from which the hair shaft develops" [J:56777]
Show

Allelic Composition: Taar1tm1(KOMP)Vlcg/Taar1tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6NTac

 MP:0000382 underdeveloped hair follicles "arrest of or retarded differentiation of the epidermal invaginations from which the hair shaft develops" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61790]
Show

Allelic Composition: Taar1tm1(KOMP)Vlcg/Taar1tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6NTac

 MP:0000452 abnormal mouth morphology "anomalous structure or development of the oral cavity" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0000454 abnormal jaw morphology "malformation of the bony framework of the mouth where the teeth are held" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 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: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0001175 abnormal lung morphology "malformed organ of respiration" [J:35802]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0001614 abnormal vasculature "anomalies in the structure of development of the network of tubes that carries blood through the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0002109 abnormal limb morphology "abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0002233 abnormal nose morphology "any structural anomaly of the organ that is specialized for smell and is part of the respiratory system " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0002239 abnormal nasal septum morphology "any structural anomaly of the structure that separates the two nasal cavities " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0002243 abnormal vomeronasal organ morphology "any structural anomaly of the specialized portion of the nasal septum that is composed of chemosensitive cells and lies anteriorly in the nasal cavity " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0002282 abnormal trachea morphology "structral anomaly of the tube descending from the larynx and branching into the right and left main bronchi" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 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: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0002656 abnormal keratinocyte differentiation "developmental anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Taar1tm1(KOMP)Vlcg/Taar1tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6NTac

 MP:0003052 omphalocele "protrusion of abdominal viscera at the base of the umbilical cord, with a covering membranous sac of peritoneum-amnion" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0003105 abnormal heart atrium morphology "structural anomaly of one or both of the two upper chambers of the heart " [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0003704 abnormal hair follicle development "anomalous development of the epidermis from which the hair shaft develops " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Taar1tm1(KOMP)Vlcg/Taar1tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6NTac

 MP:0003755 abnormal palate "anomaly in the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) " [ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 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: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0004159 double aortic arch "defect in which the main aorta tube splits into large left and right branches (right and left aortic arches), encircling the trachea and esophagus, before becoming one tube to go to the lower body " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0004592 small mandible "reduced size of the lower bony framework of the mouth where the inferior teeth are held" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0004880 lung cysts 
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0005358 abnormal incisor morphology "structural defect of the long pointed teeth; most anterior and prominent in the jaw" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85574]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0006197 ocular hypotelorism "the distance between the eyes is reduced" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0009584 decreased keratinocyte proliferation "reduction in the expansion rate of keratinocytes by cell division" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Taar1tm1(KOMP)Vlcg/Taar1tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6NTac

 MP:0009905 absent tongue "absence of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0009907 decreased tongue size "reduced size of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0010146 umbilical hernia "an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator", PMID:20333300]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0010458 pulmonary trunk hypoplasia "underdevelopment or reduced size of the region of the pulmonary artery that arises from the right ventricle to the division of the right and left pulmonary artery, usually due to reduced cell number" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0010853 abnormal lung position or orientation "the lung is displaced from the normal position and/or has an altered left/right orientation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Taar1tm1(KOMP)Vlcg/Taar1tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6NTac

 MP:0011090 partial perinatal 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 within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0011250 abdominal situs ambiguus "an abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements" [MGI:csmith, PMID:18039396]
Show

Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0011667 double outlet right ventricle with atrioventricular septal defect "a form of DORV in which there is also a complete atrioventricular canal" [MGI:csmith]
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 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: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0012085 midface hypoplasia "underdevelopment of the midfacial region comprising the nasal, maxillary, and zygomatic bones, leading to a concave-looking face" [MGI:anna]
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

 MP:0012285 misaligned sternebrae "abnormal alignment of the sternebrae along the ventral midline" [MGI:anna]
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Allelic Composition: Ryr2tm1.1Swch/Ryr2tm2.1Swch
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

  


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






 

1 s.

 
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