ENSMUSG00000032265


Mus musculus

Features
Gene ID: ENSMUSG00000032265
  
Biological name :Fam46a
  
Synonyms : Fam46a / family with sequence similarity 46 member A
  
Possible biological names infered from orthology : Q96IP4
  
Species: Mus musculus
  
Chr. number: 9
Strand: -1
Band: E3.1
Gene start: 85320439
Gene end: 85327348
  
Corresponding Affymetrix probe sets: 10595402 (MoGene1.0st)   10595404 (MoGene1.0st)   1437868_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000034802
Ensembl peptide - ENSMUSP00000140869
NCBI entrez gene - 212943     See in Manteia.
MGI - MGI:2670964
RefSeq - NM_001160378
RefSeq - NM_001160379
RefSeq Peptide - NP_001153850
RefSeq Peptide - NP_001153851
swissprot - D3Z5S8
swissprot - A0A087WS27
Ensembl - ENSMUSG00000032265
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 FAM46AENSDARG00000116442Danio rerio
 fam46abENSDARG00000054641Danio rerio
 FAM46AENSGALG00000035903Gallus gallus
 FAM46AENSG00000112773Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Fam46c / Q5SSF7 / Putative nucleotidyltransferase FAM46C / Q5VWP2* / family with sequence similarity 46 member C*ENSMUSG0000004446863
Fam46b / Q8C152 / Putative nucleotidyltransferase FAM46B / Q96A09* / family with sequence similarity 46 member B*ENSMUSG0000004669455
Fam46d / family with sequence similarity 46 member D / Q8NEK8*ENSMUSG0000007300753


Protein motifs (from Interpro)
Interpro ID Name
 IPR012937  FAM46 family


Gene Ontology (GO)
TypeGO IDTermEv.Code
 cellular_componentGO:0005575 cellular_component ND


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000060 delayed bone ossification "late onset of the formation of bone" [J:40203]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0000061 fragile skeleton "easily damaged or broken bones" [J:14208]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0000149 abnormal scapula morphology "malformation of either or both of the large, flat bones of the back part of the shoulder" [J:13049]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 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: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0000558 abnormal tibia morphology "atructural anomaly of the medial and larger of the two bones of the lower leg" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0000559 abnormal femur morphology "structural anomaly of the long bone of the thigh" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0001255 decreased body height "decreased shoulder to floor distance compared to controls" [dlb:Donna Burkart, Mouse Genome Informatics Curator]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 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: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

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

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0002932 abnormal joint "defect in the articulation point of two or more bones" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0003109 short femur "reduced length of the long bone of the thigh" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0004179 transmission ratio distortion "the occurence of an allele or haplotype in the offspring of an organism at skewed Mendelian ratios" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0004343 small scapula "reduced size of either or both of the large, flat bones of the back part of the shoulder" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0004351 short humerus "reduced length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0004353 abnormal deltoid tuberosity morphology "any structural anomaly of a rough elevation at the middle of the lateral side of the shaft of the humerus to which the deltoid muscle attaches" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0004507 abnormal ischium morphology "any structural anomaly of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0004624 abnormal thoracic cage "any structural anomaly of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0004672 short ribs "reduced length of the bones forming the bony wall of the chest" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0004689 small ischium bone "reduced size of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0004703 abnormal vertebral column "any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0005296 abnormal humerus morphology "malformation of the bone of the forelimb that articulates with the scapula above and the radius and ulna below" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0005352 small skull "less than the normal size of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0006398 increased long bone epiphyseal plate size "greater than the normal size of the cartilaginous center of ossification on the long bones permitting growth of the bone in both directions during development" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0008158 increased diameter of femur "increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0008160 increased diameter of humerus "increased width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0008273 abnormal intramembranous bone ossification "anomaly in the process of the formation of bone in which osteoblasts secrete a collage-proteoglycan matrix that binds calcium salts and becomes calcified; intramembranous ossification is the way flat bones are formed" [GO:0001957]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0009728 abnormal calcaneum morphology "any structural anomaly of the largest quadrangular bone at the back of the tarsus; it forms the heel or hock and articulates with the talus above it" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0010831 partial lethality "the appearance of lower than Mendelian ratios of offspring of a given genotype due to death of some, but not all of the organisms" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0010870 absent bone trabeculae "absence of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force" [http://www.dorlands.com/ "Dorland s Illustrated Medical Dictionary, 31st edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0011584 increased alkaline phosphatase activity "greater ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum" [GO:0004035]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

Allelic Composition: Tent5am1Mhda/Tent5a+
Genetic Background: C3HeB/FeJ-Tent5am1Mhda

 MP:0013624 decreased femur compact bone thickness "reduced width of the superficial layer of compact bone at the midpoint of the femur" [MGI:csmith]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

 MP:0030279 thin neurocranium "decreased thickness of the bones of the skull enclosing the brain" [MGI:anna]
Show

Allelic Composition: PhexMhdabap012/PhexMhdabap012
Genetic Background: C3HeB/FeJ-PhexMhdabap012

  


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






 

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