Itm2c integral membrane protein 2C [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Itm2cprovided by MGI
Official Full Name: integral membrane protein 2Cprovided by MGI
Primary source: MGI:MGI:1927594
See related: Ensembl:ENSMUSG00000026223 AllianceGenome:MGI:1927594
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; BRI3; E25C; ITM3; Bricd2c; 3110038L02Rik
Summary: Enables ATP binding activity. Involved in positive regulation of extrinsic apoptotic signaling pathway. Located in lysosome. Is expressed in several structures, including central nervous system; genitourinary system; and retina. Orthologous to human ITM2C (integral membrane protein 2C). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal adult (RPKM 251.4), cortex adult (RPKM 160.0) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C5; 1 43.94 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (85822231..85836419)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (85894510..85908698)

Chromosome 1 - NC_000067.7 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?

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.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (2)
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125251 (e-PCR)
- UniSTS:162073

AU041202 (e-PCR)
- UniSTS:158820

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables amyloid-beta binding	IBA Inferred from Biological aspect of Ancestor more info
enables amyloid-beta binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in negative regulation of amyloid precursor protein biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of extrinsic apoptotic signaling pathway	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 Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: integral membrane protein 2C

Names: integral membrane protein 3; transmembrane protein BRI3

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_022417.3 → NP_071862.2 integral membrane protein 2C

See identical proteins and their annotated locations for NP_071862.2

Status: VALIDATED

Source sequence(s)

AK036377, BE991371, BY255015

Consensus CDS

CCDS35641.1

UniProtKB/Swiss-Prot

Q91VK4, Q9JI06, Q9JME8

UniProtKB/TrEMBL

Q3U0F3

Related

ENSMUSP00000027425.10, ENSMUST00000027425.16

Conserved Domains (1) summary

smart01039
Location:138 → 230

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