ENSMUSG00000033579


Mus musculus

Features
Gene ID: ENSMUSG00000033579
  
Biological name :Fa2h
  
Synonyms : Fa2h / Fatty acid 2-hydroxylase / Q5MPP0
  
Possible biological names infered from orthology : Q7L5A8
  
Species: Mus musculus
  
Chr. number: 8
Strand: -1
Band: E1
Gene start: 111345135
Gene end: 111393824
  
Corresponding Affymetrix probe sets: 10581824 (MoGene1.0st)   1426960_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000043597
NCBI entrez gene - 338521     See in Manteia.
MGI - MGI:2443327
RefSeq - NM_178086
RefSeq Peptide - NP_835187
swissprot - Q5MPP0
Ensembl - ENSMUSG00000033579
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 fa2hENSDARG00000090063Danio rerio
 FA2HENSGALG00000002775Gallus gallus
 FA2HENSG00000103089Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR001199  Cytochrome b5-like heme/steroid binding domain
 IPR006694  Fatty acid hydroxylase
 IPR014430  Sterol desaturase Scs7
 IPR018506  Cytochrome b5, heme-binding site
 IPR036400  Cytochrome b5-like heme/steroid binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001949 sebaceous gland cell differentiation IMP
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006631 fatty acid metabolic process IDA
 biological_processGO:0006633 fatty acid biosynthetic process IEA
 biological_processGO:0008610 lipid biosynthetic process IEA
 biological_processGO:0030258 lipid modification IMP
 biological_processGO:0032286 central nervous system myelin maintenance IMP
 biological_processGO:0032287 peripheral nervous system myelin maintenance IMP
 biological_processGO:0042127 regulation of cell proliferation IMP
 biological_processGO:0042634 regulation of hair cycle IMP
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031090 organelle membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0020037 heme binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0080132 fatty acid alpha-hydroxylase activity IDA


Pathways (from Reactome)
Pathway description
Sphingolipid de novo biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000377 abnormal hair follicle "malformed invagination of the epidermis from which the hair shaft develops" [J:65031]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0000414 alopecia "absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:30772, J:33796]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0000416 sparse fur "fur that is significantly less dense" [J:46854]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0000418 patchy hair "uneven spots of hair growth on the body" [J:26975]
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Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0000422 delayed hair appearance "late onset of the first appearance of the fur" [J:17792]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0000423 delayed hair regrowth "slow initiation and asynchrony of the hair growth cycle (anagen) after catagen phase " [J:61509]
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Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0000652 enlarged sebaceous gland "increased size of the sebum secreting glands of the hair shaft" [J:30249]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0000755 hindlimb paralysis "loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0000849 abnormal cerebellum morphology "any malformation or absence of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Fa2htm1Hama/Fa2htm1Hama,Cnptm1(cre)Kan/Cnp+
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Fa2htm1.1Hama/Fa2htm1.1Hama
Genetic Background: involves: 129 * C57BL/6

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Fa2htm1Hama/Fa2htm1Hama,Cnptm1(cre)Kan/Cnp+
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Fa2htm1.1Hama/Fa2htm1.1Hama
Genetic Background: involves: 129 * C57BL/6

 MP:0000921 demyelination "loss of the myelin sheath without loss of axons or fiber tracts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Fa2htm1.1Hama/Fa2htm1.1Hama
Genetic Background: involves: 129 * C57BL/6

 MP:0001195 flaky skin "shedding scales on the skin " [J:56641]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 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: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0001330 abnormal optic nerve morphology "malformation, misprojection or atrophy in the second cranial nerve which is responsible for conveying visual information from the retina to the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Fa2htm1.1Hama/Fa2htm1.1Hama
Genetic Background: involves: 129 * C57BL/6

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: Kdm4btm1.2Okad/Kdm4btm1.2Okad
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Fa2htm1.1Hama/Fa2htm1.1Hama
Genetic Background: involves: 129 * C57BL/6

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Fa2htm1Hama/Fa2htm1Hama,Cnptm1(cre)Kan/Cnp+
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Fa2htm1.1Hama/Fa2htm1.1Hama
Genetic Background: involves: 129 * C57BL/6

 MP:0001463 abnormal spatial learning "defects in the abilibity to navigate using behavioraly meaningful locations" [CFG:Center for Functional Genomics , Northwestern University]
Show

Allelic Composition: Fa2htm1Hama/Fa2htm1Hama,Cnptm1(cre)Kan/Cnp+
Genetic Background: involves: 129 * C57BL/6

 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: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0001547 abnormal lipid level "anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Kdm4btm1.2Okad/Kdm4btm1.2Okad
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Fa2htm1.1Hama/Fa2htm1.1Hama
Genetic Background: involves: 129 * C57BL/6

 MP:0002063 abnormal learning/memory/conditioning "altered ability to receive, store or recall informational stimuli" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Fa2htm1Hama/Fa2htm1Hama,Cnptm1(cre)Kan/Cnp+
Genetic Background: involves: 129 * C57BL/6

 MP:0002182 abnormal astrocyte morphology "anomalous structure, number or compostion of one of the large neuroglia cells of nervous tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Fa2htm1.1Hama/Fa2htm1.1Hama
Genetic Background: involves: 129 * C57BL/6

 MP:0002757 reduced vertical activity "lesser than average time spent jumping or rearing" [J:82829, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

Allelic Composition: Fa2htm1Hama/Fa2htm1Hama,Cnptm1(cre)Kan/Cnp+
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Fa2htm1.1Hama/Fa2htm1.1Hama
Genetic Background: involves: 129 * C57BL/6

 MP:0002804 abnormal motor learning "defects in the ability to repeat a motor task requiring well coordinated movements and balance; measures cerebellar dependent learning" [CFG:Center for Functional Genomics , Northwestern University]
Show

Allelic Composition: Fa2htm1.1Hama/Fa2htm1.1Hama
Genetic Background: involves: 129 * C57BL/6

 MP:0002991 abnormal sebaceous gland physiology "anomalous fundtion of any of the small, sacculated organs found within the dermis that normally secrete sebum" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0002992 abnormal sebaceous lipid secretion "abnormal function of the sebaceous gland resulting in changes to the lipid profile secreted onto the hair and skin" [smb:Susan M. Bello , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0003313 abnormal locomotor activation "altered ability or desire of an animal to initiate locomotor activity" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0003809 abnormal hair shaft morphology "irregular or unusual structure of the cuticle, and/or cortex and/or medulla of a hair" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0003871 abnormal myelin sheath morphology "malformation of the insulating envelope that surrounds nerve fibers or axons" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

Allelic Composition: Fa2htm1.1Hama/Fa2htm1.1Hama
Genetic Background: involves: 129 * C57BL/6

 MP:0003983 decreased cholesterol level "less than normal concentration in the body of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Fa2htm1.1Hama/Fa2htm1.1Hama
Genetic Background: involves: 129 * C57BL/6

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

Allelic Composition: Fa2htm1.1Hama/Fa2htm1.1Hama
Genetic Background: involves: 129 * C57BL/6

 MP:0009794 sebaceous gland hyperplasia "overdevelopment and increased size of the sebum secreting glands of the hair shaft, usually due to an increase in the number of cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0010137 delayed exit from anagen phase "anomaly in the growth phase of the hair cycle resulting a prolonged anagen phase" [MGI:Sanger_Karp "Submission from Natasha Karp"]
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Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0013378 increased sebocyte number "greater than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation" [MGI:Anna, PMID:19944183]
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Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0030571 dilated piliary canal "stretched or widened aperture of the luminal space of the tubular connection that is found between the epidermal surface and the most distal part of the hair follicle inner root sheath and contains the hair shaft; the infundibulum is the opening of the hair canal to the skin surface" [MGI:anna, PMID:11171393]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

  


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






 

1 s.

 
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