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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. Diseases associated with ITM2C include bone benign neoplasm and connective tissue benign neoplasm. GO annotations related to this gene include beta-amyloid binding. An important paralog of this gene is ITM2A.

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

Promoters for ITM2C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ITM2C on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ITM2C Gene at MOPED

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

Antibody Products

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:0005515 protein binding IPI 18452648
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

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:0070062 extracellular exosome IDA 19056867
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:0030182 neuron differentiation ISS --
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

Drugs & Compounds for ITM2C Gene

No Compound Related Data Available

Transcripts for ITM2C Gene

Unigene Clusters for ITM2C Gene

Integral membrane protein 2C:
Representative Sequences:

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, MOPED, and MaxQB for ITM2C Gene



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

Protein tissue co-expression partners for ITM2C Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ITM2C 35
  • 90.39 (n)
  • 94.01 (a)
ITM2C 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITM2C 35
  • 91.14 (n)
  • 93.63 (a)
ITM2C 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itm2c 35
  • 87.64 (n)
  • 93.26 (a)
Itm2c 16
Itm2c 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ITM2C 35
  • 98.63 (n)
  • 99.63 (a)
ITM2C 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itm2c 35
  • 87.64 (n)
  • 93.26 (a)
oppossum
(Monodelphis domestica)
Mammalia ITM2C 36
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITM2C 35
  • 70.88 (n)
  • 68.97 (a)
ITM2C 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITM2C 36
  • 41 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii itm2ca 35
  • 65.35 (n)
  • 61.26 (a)
wufj35c02 35
itm2ca 36
  • 59 (a)
OneToMany
itm2cb 36
  • 42 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2395 35
fruit fly
(Drosophila melanogaster)
Insecta CG3662 36
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C25F6.7 36
  • 17 (a)
OneToMany
Species with no ortholog for ITM2C:
  • 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
rs2289235 - 230,873,453(-) TGAGC(A/C/T)CCCCC intron-variant, reference, missense, utr-variant-5-prime
rs1054089 -- 230,879,010(+) CTGTT(A/C/T)TGAAA utr-variant-3-prime
rs934821 -- 230,864,179(+) TCTTC(A/C)CTCCA upstream-variant-2KB
rs934822 -- 230,867,260(+) GGCGT(A/G)GTGCA intron-variant
rs934823 -- 230,867,320(+) TGGAG(C/G)CTTGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834565 CNV Gain 17160897
nsv470522 CNV Loss 18288195

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

HapMap Linkage Disequilibrium report
ITM2C
Human Gene Mutation Database (HGMD)
ITM2C

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

Disorders for ITM2C Gene

MalaCards: The human disease database

(2) MalaCards diseases for ITM2C Gene - From: DISEASES

Disorder Aliases PubMed IDs
bone benign neoplasm
connective tissue benign neoplasm
  • neoplasm of soft tissue
- elite association - COSMIC cancer census association via MalaCards
Search ITM2C in MalaCards View complete list of genes associated with diseases

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

No data available for 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 48 67
  2. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full- length cDNA cloning. (PMID: 9653160) Mao M. … Chen Z. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3
  3. Isolation of markers for chondro-osteogenic differentiation using cDNA library subtraction. Molecular cloning and characterization of a gene belonging to a novel multigene family of integral membrane proteins. (PMID: 8702637) Deleersnijder W. … Merregaert J. (J. Biol. Chem. 1996) 3 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Identifying biological pathways that underlie primordial short stature using network analysis. (PMID: 24711643) Hanson D. … Clayton P.E. (J. Mol. Endocrinol. 2014) 3

Products for ITM2C Gene

Sources for ITM2C Gene

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