Itm2a integral membrane protein 2A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Itm2aprovided by MGI
Official Full Name: integral membrane protein 2Aprovided by MGI
Primary source: MGI:MGI:107706
See related: Ensembl:ENSMUSG00000031239 AllianceGenome:MGI:107706
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: E25; Itm2; Bricd2a
Summary: Predicted to enable amyloid-beta binding activity. Acts upstream of or within plasma cell differentiation. Predicted to be located in membrane. Predicted to be active in Golgi apparatus and plasma membrane. Is expressed in several structures, including 1st branchial arch mandibular component; alimentary system; eye; vascular element; and vault of skull. Orthologous to human ITM2A (integral membrane protein 2A). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in limb E14.5 (RPKM 309.6), placenta adult (RPKM 74.6) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: X D; X 47.52 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (106440801..106446966, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (107397195..107403360, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Integral Membrane Protein 2A Is a Negative Regulator of Canonical and Non-Canonical Hedgehog Signalling.
Title: Integral Membrane Protein 2A Is a Negative Regulator of Canonical and Non-Canonical Hedgehog Signalling.
Itm2a knockdown is sufficient to rescue the inhibitory effects of lamin A WT and R482W mutant overexpression on 3T3-L1 differentiation.
Title: Itm2a silencing rescues lamin A mediated inhibition of 3T3-L1 adipocyte differentiation.
Itm2a possesses diverse functional properties as evidenced by differential expression during odontogenesis.
Title: Itm2a expression in the developing mouse first lower molar, and the subcellular localization of Itm2a in mouse dental epithelial cells.
Itm2a is a target gene of GATA-3 that plays a minimal role in regulating the development and function of T cells
Title: Itm2a, a target gene of GATA-3, plays a minimal role in regulating the development and function of T cells.
Itm2a is not only expressed in adult muscle fibres but also in the satellite cells responsible for regeneration.
Title: Itm2a is a Pax3 target gene, expressed at sites of skeletal muscle formation in vivo.
Both Itm2a and Itm2c were not detected in the epididymis and vas deferens during sexual maturation.
Title: Expression and regulation of type II integral membrane protein family members in mouse male reproductive tissues.
Results support the involvement of Itm2a in the early stages of chondrogenesis in vitro.
Title: In vitro studies on Itm2a reveal its involvement in early stages of the chondrogenic differentiation pathway.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (7)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Itm2a (e-PCR), detects polymorphism
- UniSTS:526860

AW108051 (e-PCR)
- UniSTS:181316

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables amyloid-beta binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within immunoglobulin production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of amyloid precursor protein biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within plasma cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: integral membrane protein 2A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_008409.2 → NP_032435.2 integral membrane protein 2A

See identical proteins and their annotated locations for NP_032435.2

Status: VALIDATED

Source sequence(s)

BQ568915, L38971

Consensus CDS

CCDS30349.1

UniProtKB/Swiss-Prot

Q3TJP5, Q61500, Q8K0H4, Q9CRW4

Related

ENSMUSP00000033591.6, ENSMUST00000033591.6

Conserved Domains (1) summary

smart01039
Location:133 → 225

BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer