ENSMUSG00000059049


Mus musculus

Features
Gene ID: ENSMUSG00000059049
  
Biological name :Frem1
  
Synonyms : FRAS1-related extracellular matrix protein 1 / Frem1 / Q684R7
  
Possible biological names infered from orthology : FRAS1 related extracellular matrix 1 / Q5H8C1
  
Species: Mus musculus
  
Chr. number: 4
Strand: -1
Band: C3
Gene start: 82897920
Gene end: 83052339
  
Corresponding Affymetrix probe sets: 10514088 (MoGene1.0st)   1455280_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000125809
Ensembl peptide - ENSMUSP00000071627
Ensembl peptide - ENSMUSP00000102849
Ensembl peptide - ENSMUSP00000122467
NCBI entrez gene - 329872     See in Manteia.
MGI - MGI:2670972
RefSeq - XM_011250055
RefSeq - NM_177863
RefSeq - XM_006538013
RefSeq - XM_006538014
RefSeq - XM_006538015
RefSeq - XM_006538017
RefSeq - XM_006538018
RefSeq - NM_001198811
RefSeq Peptide - NP_001185740
RefSeq Peptide - NP_808531
swissprot - F7D5I3
swissprot - E9Q5Z7
swissprot - Q684R7
swissprot - A2ADN1
Ensembl - ENSMUSG00000059049
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 frem1aENSDARG00000069473Danio rerio
 FREM1ENSGALG00000005426Gallus gallus
 FREM1ENSG00000164946Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Frem2 / Q6NVD0 / FRAS1-related extracellular matrix protein 2 / Q5SZK8*ENSMUSG0000003701630
Frem3 / FRAS1 related extracellular matrix 3 / P0C091*ENSMUSG0000004235326
Fras1 / Q80T14 / Extracellular matrix protein FRAS1 / Q86XX4* / Fraser extracellular matrix complex subunit 1*ENSMUSG0000003468724
BC067074 / cDNA sequence BC067074ENSMUSG0000002176316
Cspg4 / Q8VHY0 / Chondroitin sulfate proteoglycan 4 / Q6UVK1*ENSMUSG0000003291116


Protein motifs (from Interpro)
Interpro ID Name
 IPR001304  C-type lectin-like
 IPR003644  Na-Ca exchanger/integrin-beta4
 IPR013783  Immunoglobulin-like fold
 IPR016186  C-type lectin-like/link domain superfamily
 IPR016187  C-type lectin fold
 IPR032825  FRAS1-related extracellular matrix protein 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007154 cell communication IEA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007160 cell-matrix adhesion IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0097094 craniofacial suture morphogenesis IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005604 basement membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0030246 carbohydrate binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000102 abnormal nasal bone morphology "malformed elongated rectangular bone that forms part of the nasal bridge" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17489]
Show

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Rereom/RereGt(PTO26)1Byg
Genetic Background: involves: 129P2/OlaHsd * BTBR * C57BL/6J

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

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

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

Allelic Composition: Frem1bat/Frem1+
Genetic Background: C57BL/6J-Frem1bat

 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: Rereom/RereGt(PTO26)1Byg
Genetic Background: involves: 129P2/OlaHsd * BTBR * C57BL/6J

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

Allelic Composition: Frem1eyes2/Frem1eyes2
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0000520 absent kidney "missing paired organs that excrete urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49471]
Show

Allelic Composition: Cd8b1tm1Litt/Cd8b1tm1Litt,Tg(TcraH-Y,TcrbH-Y)71Vbo/0
Genetic Background: involves: 129S4/SvJae * C57BL/6J * DBA/2

Allelic Composition: Frem1tm1Ksek/Frem1tm1Ksek
Genetic Background: involves: 129

 MP:0000527 abnormal kidney development "anomalous differentiation of the paired organs responsible for urine secretion" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Frem1tm1Ksek/Frem1tm1Ksek
Genetic Background: involves: 129

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

Allelic Composition: Frem1bfd/Frem1bfd
Genetic Background: involves: C57BL/6J

 MP:0000564 syndactyly "any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Cd8b1tm1Litt/Cd8b1tm1Litt,Tg(TcraH-Y,TcrbH-Y)71Vbo/0
Genetic Background: involves: 129S4/SvJae * C57BL/6J * DBA/2

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

 MP:0001208 blistering "accumulation of fluid- filled thin walled structures under the epidermis or within the epidermis" [J:65039]
Show

Allelic Composition: Cd8b1tm1Litt/Cd8b1tm1Litt,Tg(TcraH-Y,TcrbH-Y)71Vbo/0
Genetic Background: involves: 129S4/SvJae * C57BL/6J * DBA/2

Allelic Composition: Frem1heb/Frem1heb
Genetic Background: AKR/J

 MP:0001216 abnormal epidermal layer morphology "anomalous structure or development of the superficial epithelial portion of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Frem1bfd/Frem1bfd
Genetic Background: involves: C57BL/6J

 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: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

 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: Frem1heb/Frem1heb
Genetic Background: AKR/J

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

Allelic Composition: Rereom/RereGt(PTO26)1Byg
Genetic Background: involves: 129P2/OlaHsd * BTBR * C57BL/6J

Allelic Composition: Frem1eyes2/Frem1eyes2
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0001302 eyelids open at birth "widely open eyes instead of closed at perinatal stage" [J:51966]
Show

Allelic Composition: Frem1heb/Frem1heb
Genetic Background: AKR/J

 MP:0001310 abnormal conjunctiva morphology "malformation or atrophy of the mucous membrane that lines the inner surface of the eyelids" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

 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: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

 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]
Show

Allelic Composition: Frem1heb/Frem1heb
Genetic Background: AKR/J

 MP:0001341 absent eyelids "missing skin folds covering the front of the eyeball when closed" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61790]
Show

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

 MP:0002089 abnormal postnatal growth/weight/body size "increased or decreased average body size, weight or growth characteristic abnormalities manifesting after birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Frem1eyes2/Frem1eyes2
Genetic Background: C57BL/6J-Frem1eyes2

 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: Frem1bfd/Frem1bfd
Genetic Background: involves: C57BL/6J

Allelic Composition: Frem1eyes2/Frem1eyes2
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

Allelic Composition: Frem1eyes2/Frem1eyes2
Genetic Background: C57BL/6J-Frem1eyes2

 MP:0002110 abnormal digit morphology "abnormal development of the digits resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Frem1bfd/Frem1bfd
Genetic Background: involves: C57BL/6J

 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: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

Allelic Composition: Frem1bfd/Frem1bfd
Genetic Background: involves: C57BL/6J

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
Show

Allelic Composition: Frem1bfd/Frem1bfd
Genetic Background: involves: C57BL/6J

 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: Pax2tm1Gdr/Pax2tm1.1Gdr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002835 abnormal cranial suture morphology "defects of the fibrous joint in the bones of the head" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:62161]
Show

Allelic Composition: Frem1bat/Frem1+
Genetic Background: C57BL/6J-Frem1bat

Allelic Composition: Frem1tm1Ksek/Frem1+
Genetic Background: involves: 129 * C57BL/6

 MP:0003153 early eyelid opening "early average time for the first postnatal eye opening" [J:92240, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Frem1heb/Frem1heb
Genetic Background: AKR/J

 MP:0003604 single kidney 
Show

Allelic Composition: Rereom/RereGt(PTO26)1Byg
Genetic Background: involves: 129P2/OlaHsd * BTBR * C57BL/6J

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

Allelic Composition: Frem1eyes2/Frem1eyes2
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

Allelic Composition: Frem1eyes2/Frem1eyes2
Genetic Background: C57BL/6J-Frem1eyes2

 MP:0003842 abnormal metopic suture morphology "malformation of the articulation of the frontal bone from the sagital suture to the root of the nose" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99]
Show

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

 MP:0003924 herniated diaphragm "protrusion of abdominal contents into the thoracic cavity through the diaphragm" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Frem1eyes2/Frem1eyes2
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

Allelic Composition: Frem1eyes2/Frem1eyes2
Genetic Background: C57BL/6J-Frem1eyes2

 MP:0004472 broad nasal bone "increased width of either of two rectangular bone plates forming the bridge of the nose" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

 MP:0005084 abnormal gall bladder morphology "anomalous structure or development of the organ which serves as a storage reservoir for bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Frem1eyes2/Frem1eyes2
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0005176 eyelids fail to open "eyes remain shut throughout life" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:83500]
Show

Allelic Composition: Frem1eyes2/Frem1eyes2
Genetic Background: C57BL/6J-Frem1eyes2

 MP:0005189 abnormal anogenital distance "in comparison to the norm, aberration in the measure of the length of space from the genitals to the anus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Frem1eyes2/Frem1eyes2
Genetic Background: C57BL/6J-Frem1eyes2

 MP:0005242 cryptophthalmos "congenital anomaly in which the skin is continuous over the eyeball without any indication of the formation of eyelids" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83745]
Show

Allelic Composition: Rereom/RereGt(PTO26)1Byg
Genetic Background: involves: 129P2/OlaHsd * BTBR * C57BL/6J

Allelic Composition: Frem1tm1Ksek/Frem1tm1Ksek
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

Allelic Composition: Frem1eyes2/Frem1eyes2
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0005262 coloboma "anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

 MP:0005543 corneal thinning "decreased thickness of the cornea, the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

 MP:0006000 abnormal corneal epithelium "malformation in the one or more of the layers of epithelial cells covering the front of the cornea" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

 MP:0008854 bleb "presence of a blister-like, nearly hemispherical structure formed during embryonic development filled with air, serous fluid or blood" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

Allelic Composition: Frem1heb/Frem1heb
Genetic Background: AKR/J

 MP:0008862 asymmetric snout "presence of a snout that lacks mirrored identity on either side of the median plane" [MGI:mberry "Melissa Berry, Genetics Resources Curator"]
Show

Allelic Composition: Frem1bat/Frem1+
Genetic Background: C57BL/6J-Frem1bat

 MP:0010977 fused right lung lobes "complete or partial fusion of the right lung lobes, indicative of defective lobar septation during embryonic lung development" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rereom/RereGt(PTO26)1Byg
Genetic Background: involves: 129P2/OlaHsd * BTBR * C57BL/6J

Allelic Composition: Frem1eyes2/Frem1eyes2
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

Allelic Composition: Frem1eyes2/Frem1eyes2
Genetic Background: C57BL/6J-Frem1eyes2

 MP:0011101 partial prenatal 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 between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Frem1heb/Frem1heb
Genetic Background: AKR/J

 MP:0011110 partial preweaning 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 between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Frem1eyes2/Frem1eyes2
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0012085 midface hypoplasia "underdevelopment of the midfacial region comprising the nasal, maxillary, and zygomatic bones, leading to a concave-looking face" [MGI:anna]
Show

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

 MP:0012251 abnormal diaphragm development "malformation or incomplete differentiation of the thin musculomembranous barrier separating the abdominal and thoracic cavities and functioning in respiration" [MGI:anna]
Show

Allelic Composition: Frem1eyes2/Frem1eyes2
Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

 MP:0014051 abnormal maxillary-premaxillary suture morphology "any structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla)" [ISBN:0683400088]
Show

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

 MP:0030095 abnormal midface morphology "any structural anomaly of the midface region which extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base; it is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region; traditionally, the nose and premaxilla are not included in the midface" [HP:0000309, PMID:19125436]
Show

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

 MP:0030166 increased inner canthal distance "increased distance between the inner corners (medial canthi) of the eyes where the eyelids meet; may be present without or with ocular hypertelorism (where interpupillary distance is increased)" [HP:0000506, https://en.wikipedia.org/wiki/Telecanthus, PMID:19125427]
Show

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

 MP:0030193 short philtrum "decreased length of the vertical groove found on the median line of the upper lip" [MGI:anna]
Show

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

 MP:0030195 abnormal internasal suture morphology "any structural anomaly of the cranial suture found between the left and right nasal bones" [https://www.imaios.com/en/e-Anatomy/Anatomical-Parts/Internasal-suture, MGI:anna]
Show

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

 MP:0030367 premature metopic suture closure "early closure of the metopic suture of the skull; premature closure of this suture compromises the transverse growth of both the frontal bones and can cause a narrow, triangular shaped forehead (trigonocephaly) that is associated with orbital hypotelorism" [http://www.skullbaseinstitute.com/craniosynostosis-craniofacial/trigonocephaly.html, PMID:23960302]
Show

Allelic Composition: Frem1tm1Ksek/Frem1tm1Ksek
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

Allelic Composition: Frem1bat/Frem1+
Genetic Background: C57BL/6J-Frem1bat

 MP:0030368 trigonocephaly "presence of a wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput; trigonocephaly can be caused by premature fusion of the metopic suture" [HP:0000243, http://www.skullbaseinstitute.com/craniosynostosis-craniofacial/trigonocephaly.html]
Show

Allelic Composition: Frem1bat/Frem1bat
Genetic Background: C57BL/6J-Frem1bat

Allelic Composition: Frem1bat/Frem1+
Genetic Background: C57BL/6J-Frem1bat

  


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






 

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