Manteia - Molecule gene

ENSMUSG00000044468

Mus musculus

Features

Gene ID:	ENSMUSG00000044468

Biological name :	Fam46c

Synonyms :	Fam46c / Putative nucleotidyltransferase FAM46C / Q5SSF7

Possible biological names infered from orthology :	family with sequence similarity 46 member C / Q5VWP2

Species:	Mus musculus

Chr. number:	3
Strand:	-1
Band:	F2.2
Gene start:	100451628
Gene end:	100489324

Corresponding Affymetrix probe sets:	10500610 (MoGene1.0st) 1429682_at (Mouse Genome 430 2.0 Array) 1448021_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000056872 NCBI entrez gene - 74645 See in Manteia. MGI - MGI:1921895 RefSeq - NM_001142952 RefSeq - XM_006502212 RefSeq Peptide - NP_001136424 swissprot - Q5SSF7 Ensembl - ENSMUSG00000044468

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
fam46c	ENSDARG00000010437	Danio rerio
FAM46C	ENSGALG00000014453	Gallus gallus
FAM46C	ENSG00000183508	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Fam46a / family with sequence similarity 46 member A / Q96IP4*	ENSMUSG00000032265	72
Fam46d / family with sequence similarity 46 member D / Q8NEK8*	ENSMUSG00000073007	61
Fam46b / Q8C152 / Putative nucleotidyltransferase FAM46B / Q96A09* / family with sequence similarity 46 member B*	ENSMUSG00000046694	59

Protein motifs (from Interpro)

Interpro ID	Name
IPR012937	FAM46 family

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0008150	biological_process	ND
cellular_component	GO:0005575	cellular_component	ND
molecular_function	GO:0003674	molecular_function	ND
molecular_function	GO:0016740	transferase activity	IEA
molecular_function	GO:0016779	nucleotidyltransferase activity	IEA

Pathways (from Reactome)

Pathway description

No match

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000111	cleft palate	"congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]	Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0000497	abnormal small intestine placement	"different location or arrangement of the small intestinal tract" [J:40203]	Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0000783	abnormal forebrain morphology	"malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]	Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0001914	hemorrhage	"loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0002591	decreased mean corpuscular volume	"less than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd Allelic Composition: Tent5c^em1Adki/Tent5c^em1Adki Genetic Background: involves: C57BL/6J * CBA
MP:0002874	decreased hemoglobin content	"decrease in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Tent5c^em1Adki/Tent5c^em1Adki Genetic Background: involves: C57BL/6J * CBA
MP:0002928	abnormal bile duct morphology	"malformation of the channels that secrete bile from the liver to the gall bladder and intestines" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0002989	small kidney	"reduced physical bulk one or both of the organs responsible for urine secretion" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0003131	increased erythrocyte count	"greater number of the cells in the blood that carry oxygen, red blood cells, per unit" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]	Show Allelic Composition: Tent5c^em1Adki/Tent5c^em1Adki Genetic Background: involves: C57BL/6J * CBA
MP:0003826	abnormal Mullerian duct morphology	"malformation of the transient embryonic tubes that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0004613	fusion of vertebral arches	"improper union of the dorsal part of adjacent vertebra" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0005093	impaired B cell proliferation	"absent or reduced ability of B cells to grow and divide in response to stimuli " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Tent5c^em1Adki/Tent5c^em1Adki Genetic Background: involves: C57BL/6J * CBA
MP:0005562	decreased mean corpuscular hemoglobin	"less than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0005642	decreased mean corpuscular hemoglobin concentration	"less than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:8936]	Show Allelic Composition: Tent5c^em1Adki/Tent5c^em1Adki Genetic Background: involves: C57BL/6J * CBA
MP:0008388	hypochromic microcytic anemia	"hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Tent5c^em1Adki/Tent5c^em1Adki Genetic Background: involves: C57BL/6J * CBA
MP:0010420	muscular ventricular septal defect	"abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect" [http://emedicine.medscape.com]	Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0010439	abnormal hepatic vein morphology	"any structural anomaly of the veins that drain blood from the liver and terminate in three large openings to the inferior vena cava below the diaphragm and into smaller openings in more inferior positions" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0010851	decreased effector memory CD8-positive, alpha-beta T cell number	"reduced number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative" [CL:0000913, GO_REF:0000031, GOC:add, GOC:pam, PMID:20146720]	Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0011100	complete preweaning lethality	"death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]	Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
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: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0013848	subcutaneous edema	"accumulation of watery or serous fluid in the subcutaneous region below the skin" [MGI:csmith]	Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0013876	absent ductus venosus valve	"absence of the valve present on the right side of the ductus venosus at the site of the junction with the inferior vena cava" [PMID:5438957]	Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0013970	absent connection between subcutaneous lymph vessels and lymph sac		Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0013971	blood in lymph vessels		Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0014001	abnormal vertebral artery topology	"abnormal position of the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck" [MGI:csmith]	Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd
MP:0014003	additional anastomosis between intracranial vertebral arteries		Show Allelic Composition: Fadd^{tm1e.1(KOMP)Wtsi}/Fadd^{tm1e.1(KOMP)Wtsi} Genetic Background: C57BL/6N-Fadd^{tm1e.1(KOMP)Wtsi}/Ucd

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

1 s.

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr