ENSMUSG00000020467


Mus musculus

Features
Gene ID: ENSMUSG00000020467
  
Biological name :Efemp1
  
Synonyms : Efemp1 / EGF-containing fibulin-like extracellular matrix protein 1 / Q8BPB5
  
Possible biological names infered from orthology : EGF containing fibulin extracellular matrix protein 1 / Q12805
  
Species: Mus musculus
  
Chr. number: 11
Strand: 1
Band: A3.3
Gene start: 28853204
Gene end: 28926743
  
Corresponding Affymetrix probe sets: 10374777 (MoGene1.0st)   1427183_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000020759
Ensembl peptide - ENSMUSP00000114757
NCBI entrez gene - 216616     See in Manteia.
MGI - MGI:1339998
RefSeq - XM_011243696
RefSeq - NM_146015
RefSeq - XM_006514660
RefSeq - XM_011243695
RefSeq Peptide - NP_666127
swissprot - F6ZFS0
swissprot - Q8BPB5
Ensembl - ENSMUSG00000020467
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CU570800.1ENSDARG00000059121Danio rerio
 si:ch73-173h19.3ENSDARG00000104210Danio rerio
 EFEMP1ENSGALG00000037901Gallus gallus
 EFEMP1ENSG00000115380Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Efemp2 / Q9WVJ9 / EGF-containing fibulin-like extracellular matrix protein 2 / O95967* / EGF containing fibulin extracellular matrix protein 2*ENSMUSG0000002490949
Fbln5 / Q9WVH9 / Fibulin-5 / Q9UBX5*ENSMUSG0000002118641
Fbln2 / P37889 / Fibulin-2 / P98095*ENSMUSG0000006408030
Fbln1 / Q08879 / Mus musculus fibulin 1 (Fbln1), transcript variant 2, mRNA. / P23142* / fibulin 1*ENSMUSG0000000636929
Fbn1 / Q61554 / Fibrillin-1 Asprosin / P35555* / fibrillin 1*ENSMUSG0000002720424
Fbn2 / Q61555 / Fibrillin-2 Fibrillin-2 C-terminal peptide / P35556* / fibrillin 2*ENSMUSG0000002459824
Ltbp4 / Q8K4G1 / Latent-transforming growth factor beta-binding protein 4 / Q8N2S1*ENSMUSG0000004048823
Ltbp2 / latent transforming growth factor beta binding protein 2 / Q14767*ENSMUSG0000000202023
Ltbp1 / Q8CG19 / Latent-transforming growth factor beta-binding protein 1 / Q14766*ENSMUSG0000000187022
Ltbp3 / latent transforming growth factor beta binding protein 3 / Q9NS15*ENSMUSG0000002494017


Protein motifs (from Interpro)
Interpro ID Name
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000742  EGF-like domain
 IPR001881  EGF-like calcium-binding domain
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR013032  EGF-like, conserved site
 IPR018097  EGF-like calcium-binding, conserved site
 IPR026823  Complement Clr-like EGF domain
 IPR032973  EGF-containing fibulin-like extracellular matrix protein 1
 IPR037287  Fibulin 3/4/5


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007173 epidermal growth factor receptor signaling pathway IEA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0032331 negative regulation of chondrocyte differentiation IEA
 biological_processGO:0043010 camera-type eye development IEA
 biological_processGO:0048048 embryonic eye morphogenesis IEA
 biological_processGO:0048050 post-embryonic eye morphogenesis IEA
 cellular_componentGO:0005576 extracellular region ISO
 cellular_componentGO:0005615 extracellular space ISS
 cellular_componentGO:0031012 extracellular matrix IEA
 molecular_functionGO:0005006 epidermal growth factor-activated receptor activity IEA
 molecular_functionGO:0005154 epidermal growth factor receptor binding IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0008083 growth factor activity IEA


Pathways (from Reactome)
Pathway description
Molecules associated with elastic fibres


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000063 reduced bone density "decreased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000066 osteoporosis "reduction in bone mass or atrophy of skeletal tissue; may lead to skeletal fragility" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000159 abnormal xiphoid process "malformed posterior tip of the sternum" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:42932]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000493 rectal prolapse "downward movement and external appearance of the rectum through the anus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Csahl4/Csahl4
Genetic Background: C57BL/6J-Chr 10A/J/NaJ

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000689 abnormal spleen morphology "atypical structure of the organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:27463]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000757 herniated abdominal wall "protrusions through and/or into the abdominal wall often resulting in the extrusion of viscera" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]
Show

Allelic Composition: Csahl4/Csahl4
Genetic Background: C57BL/6J-Chr 10A/J/NaJ

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001120 abnormal uterus morphology "malformation or absence of the female muscular organ of gestation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001146 abnormal testis morphology "anomalous structure of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Csahl4/Csahl4
Genetic Background: C57BL/6J-Chr 10A/J/NaJ

 MP:0001510 abnormal coat appearance "coat that looks different from the usual state " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001924 infertility "inability to produce live offspring" [J:47225]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002073 abnormal hair growth "absence or reduced amount of hair or abnormal onset of hair growth cycle or development" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Csahl4/Csahl4
Genetic Background: C57BL/6J-Chr 10A/J/NaJ

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Akr1c18tm1Mni/Akr1c18tm1Mni
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Efemp1tm1Eap/Efemp1+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002160 abnormal reproductive system morphology "structural or developmental anomaly of any of the tissues involved in the reproductive system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Csahl4/Csahl4
Genetic Background: C57BL/6J-Chr 10A/J/NaJ

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Casp9tm1Flv/Casp9tm1Flv
Genetic Background: B6.129S1-Casp9tm1Flv

 MP:0002832 coarse hair "hair shafts that are twisted or coiled and are of uneven thickness produce an overall rugged or uneven appearance and roughness to the touch" [llw2:Linda Washburn , Mouse Genome Informatics Curator, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:56826]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0003099 retinal detachment "detachment of the retina from the underlying inner wall of the eye, often from tension of the vitreous; may occur with aging or as a result of trauma" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:83544]
Show

Allelic Composition: Pax6Sey-Neu/Pax6Sey-Neu
Genetic Background: involves: 102 * C3H * CD-1

Allelic Composition: Efemp1tm1Lmar/Efemp1+
Genetic Background: involves: 129X1/SvJ * BALB/c

 MP:0003103 liver degeneration "deterioration of the liver due to injury or disease, often accompanied by loss of function" [smb:Susan M. Bello, Mouse Genome Informatics Curator, J:91653]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0003385 abnormal body wall "malformation in the external portion of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Csahl4/Csahl4
Genetic Background: C57BL/6J-Chr 10A/J/NaJ

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0003402 decreased liver weight "reduced average weight of the bile-secreting exocrine gland" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0003786 premature aging "earlier than normal occurence of the normal signs of aging" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:97764]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0003918 decreased kidney weight "reduced heft of the organs responsible for urine secretion" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0004953 decreased spleen weight "reduction in the average weight of the organ that functions to filter blood and to store red corpuscles and platelets" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0004970 kidney atrophy "wasting of the kidney due to injury or disease, resulting in reduced size" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0005114 premature hair loss "release of fur at an earlier than expected time" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0005155 herniated intestine "protrusion of any portion of the intestine from its normal anatomical position" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Csahl4/Csahl4
Genetic Background: C57BL/6J-Chr 10A/J/NaJ

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 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: Pax6Sey-Neu/Pax6Sey-Neu
Genetic Background: involves: 102 * C3H * CD-1

Allelic Composition: Efemp1tm1Lmar/Efemp1+
Genetic Background: involves: 129X1/SvJ * BALB/c

Allelic Composition: Efemp1tm1Eap/Efemp1tm1Eap
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

 MP:0005239 abnormal Bruch membrane morphology "anomalous structure of the transparent, nearly structureless inner layer of the choroid in contact with the pigmented layer of the retina" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pax6Sey-Neu/Pax6Sey-Neu
Genetic Background: involves: 102 * C3H * CD-1

Allelic Composition: Efemp1tm1Lmar/Efemp1+
Genetic Background: involves: 129X1/SvJ * BALB/c

 MP:0005421 loose skin "condition in which the skin hangs in folds" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0005548 retinal pigment epithelium atrophy "wasting or decreased size of the epithelial layer of the retina composed of cells containing pigment granules " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Pax6Sey-Neu/Pax6Sey-Neu
Genetic Background: involves: 102 * C3H * CD-1

Allelic Composition: Efemp1tm1Lmar/Efemp1+
Genetic Background: involves: 129X1/SvJ * BALB/c

 MP:0006077 inguinal hernia "hernia through the abdominal wall in the region of the groin known as Hesselbach s triangle" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99, J:74295]
Show

Allelic Composition: Csahl4/Csahl4
Genetic Background: C57BL/6J-Chr 10A/J/NaJ

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0006238 abnormal choriocapillaris morphology "malformation of the capillaries forming the inner vascular layer of the choroid of the eye" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Pax6Sey-Neu/Pax6Sey-Neu
Genetic Background: involves: 102 * C3H * CD-1

Allelic Composition: Efemp1tm1Lmar/Efemp1+
Genetic Background: involves: 129X1/SvJ * BALB/c

 MP:0008418 abnormal cutaneous elastic fiber morphology "any structural anomaly of the slender connective tissue fiber in the extracellular matrix of skin tissue that is composed of microfibrils and amorphous elastin and is characterized by great elasticity" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Csahl4/Csahl4
Genetic Background: C57BL/6J-Chr 10A/J/NaJ

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0008844 decreased subcutaneous adipose tissue amount "reduction in amount of adipose tissue beneath the skin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
Show

Allelic Composition: Cecr2tm2b(EUCOMM)Hmgu/Cecr2+
Genetic Background: C57BL/6N-Cecr2tm2b(EUCOMM)Hmgu/Tcp

 MP:0010239 decreased skeletal muscle weight "less than average skeletal muscle weight" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Efemp1tm2Lmar/Efemp1tm2Lmar
Genetic Background: involves: 129X1/SvJ * C57BL/6

  


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 2007-2024
contact: otassy@igbmc.fr