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Aliases for ITM2C Gene

Aliases for ITM2C Gene

  • Integral Membrane Protein 2C 2 3 5
  • BRICHOS Domain Containing 2C 2 3
  • Transmembrane Protein BRI3 3 4
  • Cerebral Protein 14 3 4
  • BRI3 3 4
  • Integral Membrane Protein 3 3
  • BRICD2C 3
  • E25C 3
  • ITM3 3
  • E25 3

External Ids for ITM2C Gene

Previous GeneCards Identifiers for ITM2C Gene

  • GC02U990099
  • GC02P230461
  • GC02P231693
  • GC02P231932
  • GC02P231555
  • GC02P231437
  • GC02P223571
  • GC02P231729

Summaries for ITM2C Gene

GeneCards Summary for ITM2C Gene

ITM2C (Integral Membrane Protein 2C) is a Protein Coding gene. GO annotations related to this gene include beta-amyloid binding. An important paralog of this gene is ITM2B.

UniProtKB/Swiss-Prot for ITM2C Gene

  • Negative regulator of beta amyloid peptide production. May inhibit the processing of APP by blocking its access to alpha- and beta-secretase. Binding to the beta-secretase-cleaved APP C-terminal fragment is negligible, suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor. May play a role in TNF-induced cell death and neuronal differentiation (By similarity).

Gene Wiki entry for ITM2C Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITM2C Gene

Genomics for ITM2C Gene

Regulatory Elements for ITM2C Gene

Enhancers for ITM2C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F230885 0.6 Ensembl ENCODE 12.1 +21.6 21603 1.2 RFX1 BMI1 MNT ZFHX2 ZNF316 MYNN MAFK EGR2 ITM2C GPR55 LOC151484
GH02F230863 0.5 Ensembl ENCODE 9 +5.0 5014 11.3 PKNOX1 ARID4B DMAP1 ZNF48 GLIS2 ELK1 ZNF143 SP3 TSHZ1 REST ENSG00000230385 SPATA3 SPATA3-AS1 PSMD1 ITM2C LOC151484
GH02F230861 0.7 ENCODE 7.4 -2.9 -2895 0.9 ZFHX2 PKNOX1 REST EGR2 ITM2C ENSG00000270891
GH02F230893 0.9 Ensembl ENCODE 5.9 +30.3 30333 3.1 USF1 L3MBTL2 TAL1 BHLHE40 ZFP64 USF2 MAX ZEB2 RAD51 EED ITM2C LOC151484 ENSG00000230385
GH02F231017 0.3 FANTOM5 1.7 +152.8 152795 0.4 NFIA NFYC PRDM10 EP300 ZNF48 SPATA3 C2orf72 ITM2C
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ITM2C on UCSC Golden Path with GeneCards custom track

Promoters for ITM2C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000609167 702 2201 PKNOX1 ARID4B DMAP1 ZNF48 GLIS2 ELK1 ZNF143 SP3 TSHZ1 REST

Genomic Location for ITM2C Gene

Chromosome:
2
Start:
230,864,598 bp from pter
End:
230,879,254 bp from pter
Size:
14,657 bases
Orientation:
Plus strand

Genomic View for ITM2C Gene

Genes around ITM2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITM2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITM2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITM2C Gene

Proteins for ITM2C Gene

  • Protein details for ITM2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQX7-ITM2C_HUMAN
    Recommended name:
    Integral membrane protein 2C
    Protein Accession:
    Q9NQX7
    Secondary Accessions:
    • B3KPG4
    • Q4G0A8
    • Q53H84
    • Q6IAE7
    • Q86VK5
    • Q8N288
    • Q8TAW0
    • Q9BUP8

    Protein attributes for ITM2C Gene

    Size:
    267 amino acids
    Molecular mass:
    30224 Da
    Quaternary structure:
    • Interacts with BACE1. Interacts with APP. Interacts with STMN2.

    Alternative splice isoforms for ITM2C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITM2C Gene

Post-translational modifications for ITM2C Gene

  • Type I membrane-bound, as well as soluble, furin has a pre-eminent role in ITM2C proteolytic processing. PCSK7 and PCSK5 may also be involved although to a lesser extent. The soluble form of PCSK7 is incapable of processing ITM2C. Fails to undergo shedding by ADAM10 and intramembanaire cleavage by SPPL2B.
  • Ubiquitination at Lys 3, Lys 14, Lys 20, and Lys 187
  • Glycosylation at Asn 169
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ITM2C Gene

Domains & Families for ITM2C Gene

Gene Families for ITM2C Gene

Protein Domains for ITM2C Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ITM2C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NQX7

UniProtKB/Swiss-Prot:

ITM2C_HUMAN :
  • Contains 1 BRICHOS domain.
  • Belongs to the ITM2 family.
Domain:
  • Contains 1 BRICHOS domain.
Family:
  • Belongs to the ITM2 family.
genes like me logo Genes that share domains with ITM2C: view

Function for ITM2C Gene

Molecular function for ITM2C Gene

UniProtKB/Swiss-Prot Function:
Negative regulator of beta amyloid peptide production. May inhibit the processing of APP by blocking its access to alpha- and beta-secretase. Binding to the beta-secretase-cleaved APP C-terminal fragment is negligible, suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor. May play a role in TNF-induced cell death and neuronal differentiation (By similarity).

Gene Ontology (GO) - Molecular Function for ITM2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding IPI 19849849
GO:0005515 protein binding IPI 18452648
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ITM2C: view
genes like me logo Genes that share phenotypes with ITM2C: view

Animal Models for ITM2C Gene

MGI Knock Outs for ITM2C:

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ITM2C Gene

Localization for ITM2C Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITM2C Gene

Lysosome membrane; Single-pass type II membrane protein. Cell membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITM2C Gene COMPARTMENTS Subcellular localization image for ITM2C gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
golgi apparatus 4
cytosol 2
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ITM2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome ISS --
GO:0005765 lysosomal membrane IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005886 plasma membrane IEA,IDA 19114711
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ITM2C: view

Pathways & Interactions for ITM2C Gene

SuperPathways for ITM2C Gene

No Data Available

Gene Ontology (GO) - Biological Process for ITM2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010977 negative regulation of neuron projection development IDA 18452648
GO:0030182 neuron differentiation ISS --
GO:0042985 negative regulation of amyloid precursor protein biosynthetic process IBA --
GO:2001238 positive regulation of extrinsic apoptotic signaling pathway IEA --
genes like me logo Genes that share ontologies with ITM2C: view

No data available for Pathways by source and SIGNOR curated interactions for ITM2C Gene

Transcripts for ITM2C Gene

Unigene Clusters for ITM2C Gene

Integral membrane protein 2C:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITM2C Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8
SP1: -
SP2: - -
SP3: - -
SP4: -
SP5:

Relevant External Links for ITM2C Gene

GeneLoc Exon Structure for
ITM2C
ECgene alternative splicing isoforms for
ITM2C

Expression for ITM2C Gene

mRNA expression in normal human tissues for ITM2C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITM2C Gene

This gene is overexpressed in Colon - Transverse (x4.6) and Brain - Nucleus accumbens (basal ganglia) (x4.0).

Protein differential expression in normal tissues from HIPED for ITM2C Gene

This gene is overexpressed in Bone (39.7) and Amniocyte (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ITM2C Gene



Protein tissue co-expression partners for ITM2C Gene

NURSA nuclear receptor signaling pathways regulating expression of ITM2C Gene:

ITM2C

SOURCE GeneReport for Unigene cluster for ITM2C Gene:

Hs.111577

mRNA Expression by UniProt/SwissProt for ITM2C Gene:

Q9NQX7-ITM2C_HUMAN
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.
genes like me logo Genes that share expression patterns with ITM2C: view

Primer Products

Orthologs for ITM2C Gene

This gene was present in the common ancestor of animals.

Orthologs for ITM2C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITM2C 34 35
  • 98.63 (n)
dog
(Canis familiaris)
Mammalia ITM2C 34 35
  • 91.14 (n)
cow
(Bos Taurus)
Mammalia ITM2C 34 35
  • 90.39 (n)
mouse
(Mus musculus)
Mammalia Itm2c 34 16 35
  • 87.64 (n)
rat
(Rattus norvegicus)
Mammalia Itm2c 34
  • 87.64 (n)
oppossum
(Monodelphis domestica)
Mammalia ITM2C 35
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITM2C 34 35
  • 70.88 (n)
lizard
(Anolis carolinensis)
Reptilia ITM2C 35
  • 41 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii itm2ca 34 35
  • 65.35 (n)
itm2cb 35
  • 42 (a)
OneToMany
wufj35c02 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2395 34
fruit fly
(Drosophila melanogaster)
Insecta CG3662 35
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C25F6.7 35
  • 17 (a)
OneToMany
Species where no ortholog for ITM2C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ITM2C Gene

ENSEMBL:
Gene Tree for ITM2C (if available)
TreeFam:
Gene Tree for ITM2C (if available)

Paralogs for ITM2C Gene

Paralogs for ITM2C Gene

(2) SIMAP similar genes for ITM2C Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ITM2C: view

Variants for ITM2C Gene

Sequence variations from dbSNP and Humsavar for ITM2C Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10168033 -- 230,876,583(+) ttcac(A/G)ccatt intron-variant
rs10199445 -- 230,866,520(+) CAGCA(A/G)CCAGT intron-variant
rs10202510 -- 230,874,457(+) TGGCC(C/T)TACCC intron-variant
rs10469680 -- 230,868,511(+) CAGAT(A/G)TGGGC intron-variant
rs1054089 -- 230,879,010(+) CTGTT(A/C/T)TGAAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ITM2C Gene

Variant ID Type Subtype PubMed ID
dgv7335n54 CNV loss 21841781
nsv470522 CNV loss 18288195
nsv834565 CNV gain 17160897

Variation tolerance for ITM2C Gene

Residual Variation Intolerance Score: 60.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.89; 35.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITM2C Gene

Human Gene Mutation Database (HGMD)
ITM2C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITM2C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITM2C Gene

Disorders for ITM2C Gene

Relevant External Links for ITM2C

Genetic Association Database (GAD)
ITM2C
Human Genome Epidemiology (HuGE) Navigator
ITM2C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITM2C

No disorders were found for ITM2C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ITM2C Gene

Publications for ITM2C Gene

  1. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M. … Yamada Y. (Am. J. Hypertens. 2010) 3 46 64
  2. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2010) 3 46 64
  3. Substrate requirements for SPPL2b-dependent regulated intramembrane proteolysis. (PMID: 19114711) Martin L. … Haass C. (J. Biol. Chem. 2009) 3 4 64
  4. BRI3 inhibits amyloid precursor protein processing in a mechanistically distinct manner from its homologue dementia gene BRI2. (PMID: 19366692) Matsuda S. … D'Adamio L. (J. Biol. Chem. 2009) 3 4 64
  5. BRI3 associates with SCG10 and attenuates NGF-induced neurite outgrowth in PC12 cells. (PMID: 18452648) Gong Y. … Yuan J. (BMB Rep. 2008) 3 4 64

Products for ITM2C Gene

Sources for ITM2C Gene

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