Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TMCC2 Gene

Aliases for TMCC2 Gene

  • Transmembrane And Coiled-Coil Domain Family 2 2 3 5
  • Cerebral Protein 11 3 4
  • Transmembrane And Coiled-Coil Domains Protein 2 3
  • Transmembrane And Coiled-Coil Domains 2 2
  • KIAA0481 4
  • HUCEP11 3

External Ids for TMCC2 Gene

Previous GeneCards Identifiers for TMCC2 Gene

  • GC01P201929
  • GC01P203463
  • GC01P176362

Summaries for TMCC2 Gene

GeneCards Summary for TMCC2 Gene

TMCC2 (Transmembrane And Coiled-Coil Domain Family 2) is a Protein Coding gene. An important paralog of this gene is TMCC1.

UniProtKB/Swiss-Prot for TMCC2 Gene

  • May be involved in the regulation of the proteolytic processing of the amyloid precursor protein (APP) possibly also implicating APOE.

Additional gene information for TMCC2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMCC2 Gene

Genomics for TMCC2 Gene

GeneHancer (GH) Regulatory Elements for TMCC2 Gene

Promoters and enhancers for TMCC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I205225 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 577.5 +0.4 388 4.6 HDGF PKNOX1 SMAD1 ARNT SIN3A FEZF1 ZNF2 ZBTB7B ZNF143 ZNF548 TMCC2 MDM4 ELK4 PPP1R15B DSTYK SNRPGP10 RPL13AP11 ENSG00000240219 ENSG00000226330 LOC101929459
GH01I205246 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 595.9 +21.1 21077 5.1 HDGF HDAC1 ATF1 ZNF335 TCF12 GLIS2 ATF7 CREM PHF21A CEBPB TMCC2 DSTYK CNTN2 CDK18 NUAK2 TMEM81 LOC101929459 NFASC MFSD4A PIR41674
GH01I205255 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 588.4 +28.4 28387 0.6 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A ZNF2 ZNF48 TCF12 ZNF766 TMCC2 DSTYK NUAK2 CNTN2 PIR41674 LOC101929459
GH01I205120 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 31.6 -106.1 -106113 2.9 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 RBBP5 MDM4 PPP1R15B ELK4 TMCC2 DSTYK RPL13AP11 NFASC SNRPGP10 LOC101929459
GH01I205283 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 22.7 +58.5 58504 5.6 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B IRF4 TMCC2 NUAK2 DSTYK LOC101929459 RBBP5 RAB29 PIR41674
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMCC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMCC2 gene promoter:

Genomic Locations for TMCC2 Gene

Genomic Locations for TMCC2 Gene
chr1:205,227,910-205,273,343
(GRCh38/hg38)
Size:
45,434 bases
Orientation:
Plus strand
chr1:205,197,038-205,242,471
(GRCh37/hg19)

Genomic View for TMCC2 Gene

Genes around TMCC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMCC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMCC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMCC2 Gene

Proteins for TMCC2 Gene

  • Protein details for TMCC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75069-TMCC2_HUMAN
    Recommended name:
    Transmembrane and coiled-coil domains protein 2
    Protein Accession:
    O75069
    Secondary Accessions:
    • A2RRH3
    • B2RAX5
    • B3KTM7
    • B7Z1P7
    • Q6ZN09
    • Q7Z6C6

    Protein attributes for TMCC2 Gene

    Size:
    709 amino acids
    Molecular mass:
    77449 Da
    Quaternary structure:
    • Interacts with APOE and proteolytic processed C-terminal fragment C99 of the amyloid precursor protein (APP C99).
    SequenceCaution:
    • Sequence=BAA32326.3; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TMCC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMCC2 Gene

Post-translational modifications for TMCC2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for TMCC2 Gene

Domains & Families for TMCC2 Gene

Gene Families for TMCC2 Gene

Protein Domains for TMCC2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O75069

UniProtKB/Swiss-Prot:

TMCC2_HUMAN :
  • Belongs to the TEX28 family.
Family:
  • Belongs to the TEX28 family.
genes like me logo Genes that share domains with TMCC2: view

Function for TMCC2 Gene

Molecular function for TMCC2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the regulation of the proteolytic processing of the amyloid precursor protein (APP) possibly also implicating APOE.

Phenotypes From GWAS Catalog for TMCC2 Gene

Gene Ontology (GO) - Molecular Function for TMCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21593558
genes like me logo Genes that share ontologies with TMCC2: view
genes like me logo Genes that share phenotypes with TMCC2: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMCC2 Gene

Localization for TMCC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMCC2 Gene

Membrane; Multi-pass membrane protein. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMCC2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
nucleus 3

Gene Ontology (GO) - Cellular Components for TMCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 21593558
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMCC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMCC2 Gene

Pathways & Interactions for TMCC2 Gene

SuperPathways for TMCC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042982 amyloid precursor protein metabolic process IDA 21593558
genes like me logo Genes that share ontologies with TMCC2: view

No data available for Pathways by source and SIGNOR curated interactions for TMCC2 Gene

Drugs & Compounds for TMCC2 Gene

No Compound Related Data Available

Transcripts for TMCC2 Gene

Unigene Clusters for TMCC2 Gene

Transmembrane and coiled-coil domain family 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMCC2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b
SP1: - - - - - - -
SP2: - - - -
SP3: - -
SP4: -
SP5: - - -
SP6:
SP7:

Relevant External Links for TMCC2 Gene

GeneLoc Exon Structure for
TMCC2
ECgene alternative splicing isoforms for
TMCC2

Expression for TMCC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMCC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMCC2 Gene

This gene is overexpressed in Whole Blood (x4.8) and Brain - Spinal cord (cervical c-1) (x4.4).

Protein differential expression in normal tissues from HIPED for TMCC2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (37.1) and Plasma (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMCC2 Gene



Protein tissue co-expression partners for TMCC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMCC2 Gene:

TMCC2

SOURCE GeneReport for Unigene cluster for TMCC2 Gene:

Hs.6360

Evidence on tissue expression from TISSUES for TMCC2 Gene

  • Nervous system(4.9)
  • Blood(2)
genes like me logo Genes that share expression patterns with TMCC2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMCC2 Gene

Orthologs for TMCC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMCC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMCC2 33 34
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia TMCC2 33 34
  • 92.3 (n)
oppossum
(Monodelphis domestica)
Mammalia TMCC2 34
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMCC2 33 34
  • 88.71 (n)
mouse
(Mus musculus)
Mammalia Tmcc2 33 16 34
  • 88.54 (n)
rat
(Rattus norvegicus)
Mammalia Tmcc2 33
  • 88.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMCC2 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMCC2 33 34
  • 80.31 (n)
lizard
(Anolis carolinensis)
Reptilia TMCC2 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmcc2 33
  • 68.25 (n)
zebrafish
(Danio rerio)
Actinopterygii tmcc2 33 34
  • 77.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1021 34
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C15H9.4 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5281 34
  • 50 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5750 33
Species where no ortholog for TMCC2 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for TMCC2 Gene

ENSEMBL:
Gene Tree for TMCC2 (if available)
TreeFam:
Gene Tree for TMCC2 (if available)

Paralogs for TMCC2 Gene

Paralogs for TMCC2 Gene

(4) SIMAP similar genes for TMCC2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TMCC2: view

Variants for TMCC2 Gene

Sequence variations from dbSNP and Humsavar for TMCC2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000010210 -- 205,273,346(+) C/T downstream_transcript_variant
rs1000093790 -- 205,231,540(+) T/A genic_upstream_transcript_variant, intron_variant
rs1000282860 -- 205,262,402(+) G/A intron_variant
rs1000358808 -- 205,255,270(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000366659 -- 205,249,530(+) T/ genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TMCC2 Gene

Variant ID Type Subtype PubMed ID
nsv1126226 CNV deletion 24896259
nsv477442 CNV novel sequence insertion 20440878

Variation tolerance for TMCC2 Gene

Residual Variation Intolerance Score: 16.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.14; 61.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMCC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMCC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMCC2 Gene

Disorders for TMCC2 Gene

Additional Disease Information for TMCC2

No disorders were found for TMCC2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMCC2 Gene

Publications for TMCC2 Gene

  1. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PMID: 9455484) Seki N … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 58
  2. The impact of a novel apolipoprotein E and amyloid-β protein precursor-interacting protein on the production of amyloid-β. (PMID: 21593558) Hopkins PC … Lovestone S (Journal of Alzheimer's disease : JAD 2011) 3 4 58
  3. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 44 58
  4. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. (PMID: 19820697) Soranzo N … Gieger C (Nature genetics 2009) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for TMCC2 Gene

Sources for TMCC2 Gene

Content
Loading form....