Manteia

ENSMUSG00000056050

Mus musculus

Features

Gene ID:	ENSMUSG00000056050

Biological name :	Mia3

Synonyms :	Mia3 / transport and Golgi organization

Possible biological names infered from orthology :	MIA family member 3, ER export factor / Q5JRA6

Species:	Mus musculus

Chr. number:	1
Strand:	-1
Band:	H5
Gene start:	183326725
Gene end:	183369553

Corresponding Affymetrix probe sets:	10598198 (MoGene1.0st) 1434698_at (Mouse Genome 430 2.0 Array) 1455066_s_at (Mouse Genome 430 2.0 Array) 1459070_at (Mouse Genome 430 2.0 Array) 1459984_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000104786 Ensembl peptide - ENSMUSP00000141957 Ensembl peptide - ENSMUSP00000141853 Ensembl peptide - ENSMUSP00000141268 Ensembl peptide - ENSMUSP00000064801 NCBI entrez gene - 338366 See in Manteia. MGI - MGI:2443183 RefSeq - NM_177389 RefSeq Peptide - NP_796363 swissprot - J3KMG3 swissprot - A0A0R4J2D3 swissprot - J3KMH5 swissprot - A0A0A6YXE6 swissprot - A0A0A6YX61 Ensembl - ENSMUSG00000056050

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

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
mia3	ENSDARG00000008184	Danio rerio
MIA3	ENSGALG00000041034	Gallus gallus
MIA3	ENSG00000154305	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Mia2 / Q91ZV0 / Mus musculus melanoma inhibitory activity 2 (Mia2), transcript variant 1, mRNA. / CTAGE5* / CTAGE6* / CTAGE8* / CTAGE9* / A4D2H0* / A4FU28* / CTAGE1* / CTAGE4* / O15320* / P...	ENSMUSG00000021000	26

Protein motifs (from Interpro)

Interpro ID	Name
IPR001452	SH3 domain
IPR036028	SH3-like domain superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
cellular_component	GO:0016020	membrane	IEA
cellular_component	GO:0016021	integral component of membrane	IEA
molecular_function	GO:0005515	protein binding	IEA

Pathways (from Reactome)

Pathway description

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)

Cargo concentration in the ER

Post-translational protein phosphorylation

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000060	delayed bone ossification	"late onset of the formation of bone" [J:40203]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0000164	abnormal cartilage development	"anomalous formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the throax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0000166	abnormal chondrocyte morphology	"anomalous structure, organization, or differentiation of nondividing cartilage cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0000358	abnormal cell content/ morphology	"structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0000445	short snout	"reduced length of the anterior facial part of the muzzle" [J:53370]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0000547	short limbs	"reduced average length of the extremities" [MGI:CLS, J:61509]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0001243	abnormal dermal layer morphology	"malformed or atypical condition of the dermal layer of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:56777]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0001634	internal hemorrhage	"blood loss in the interior of the body due to vessel rupture or dysmorphology " [J:23170]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0001785	edema	"an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0001953	respiratory failure	"cessation of or failure to commence breathing" [MGI:cls, J:60159]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0002113	abnormal skeleton development	"anomalous differentiation or remodeling of bone tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0002427	dwarfism	"abnormally undersized with disproportionate body parts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0003089	reduced skin tensile strength	"reduction in the normal maximum tension the skin can withstand without tearing" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:48068]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0004200	reduced fetal size	"smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0004989	decreased osteoblast cell number	"reduction in the number of the bone-forming cells, which normally form an osseous matrix (osteoid) in which they become enclosed as an osteocytes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0005621	abnormal cell physiology	"aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0008438	abnormal cutaneous collagen fibril morphology	"any structural anomaly of the connective tissue bundles in the extracellular matrix of skin tissue that are composed of collagen, and play a role in skin strength and elasticity" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0009780	abnormal chondrocyte physiology	"any functional anomaly of nondividing cartilage cells" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
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: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0011089	complete perinatal lethality	"death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu
MP:0020138	delayed bone mineralization	"late onset of the process by which minerals are deposited into bone" [ORCID: orcid.org/0000-0003-4606-0597]	Show Allelic Composition: Cd79a^m1Anu/Cd79a^m1Anu Genetic Background: C57BL/6-Cd79a^m1Anu

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

0 s.

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