• Gene id: 81618

Gene Summary

• Gene Symbol: ITM2C   Gene   UCSC   Ensembl
• Aliases: BRI3, BRICD2C, E25, E25C, ITM3
• Gene name: integral membrane protein 2C
• Alternate names: integral membrane protein 2C, BRICHOS domain containing 2C, cerebral protein 14, integral membrane protein 3, transmembrane protein BRI3,
• Gene location: 2q37.1 (42326106: 42312085)     Exons: 8     NC_000012.12
• OMIM: 609554

Protein Summary

• Protein general information: Q9NQX7  
  • Name: Integral membrane protein 2C (Cerebral protein 14) (Transmembrane protein BRI3) [Cleaved into: CT BRI3]
  • Length: 267  
  • Mass: 30224
  • Tissue specificity: High levels in the brain, specifically in the cerebral cortex, medulla, amygdala, hippocampus, thalamus, caudate nucleus, cerebellum, olfactory lobe and spinal cord. Very low levels in other organs. {ECO
• Sequence:

  MVKISFQPAVAGIKGDKADKASASAPAPASATEILLTPAREEQPPQHRSKRGGSVGGVCYLSMGMVVLLMGLVFA
  SVYIYRYFFLAQLARDNFFRCGVLYEDSLSSQVRTQMELEEDVKIYLDENYERINVPVPQFGGGDPADIIHDFQR
  GLTAYHDISLDKCYVIELNTTIVLPPRNFWELLMNVKRGTYLPQTYIIQEEMVVTEHVSDKEALGSFIYHLCNGK
  DTYRLRRRATRRRINKRGAKNCNAIRHFENTFVVETLICGVV

• Structural information:
  • Protein Domains: (136..23-)
    (/note="BRICHOS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00255"-)
  • Interpro: IPR007084  IPR040145  
  • Prosite: PS50869
  • STRING: ENSP00000322730
• Other Databases: GeneCards:  ITM2C  Malacards:  ITM2C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0042985	negative regulation of amyloid precursor protein biosynthetic process	IBA	biological process
GO:0001540	amyloid-beta binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0030182	neuron differentiation	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:2001238	positive regulation of extrinsic apoptotic signaling pathway	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0001540	amyloid-beta binding	IPI	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0010977	negative regulation of neuron projection development	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881