Aliases for TMCC2 Gene

Aliases for TMCC2 Gene

  • Transmembrane And Coiled-Coil Domain Family 2 2 3 5
  • Transmembrane And Coiled-Coil Domains Protein 2 3 4
  • Cerebral Protein 11 3 4
  • 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. Diseases associated with TMCC2 include Inflammatory Spondylopathy. An important paralog of this gene is TMCC1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for TMCC2 Gene

Genomics for TMCC2 Gene

GeneHancer (GH) Regulatory Elements for TMCC2 Gene

Promoters and enhancers for TMCC2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMCC2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMCC2

Top Transcription factor binding sites by QIAGEN in the TMCC2 gene promoter:
  • AML1a
  • ER-alpha
  • FOXC1
  • FOXL1
  • FOXO4
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • p53

Genomic Locations for TMCC2 Gene

Genomic Locations for TMCC2 Gene
chr1:205,227,910-205,285,632
(GRCh38/hg38)
Size:
57,723 bases
Orientation:
Plus strand
chr1:205,197,038-205,242,471
(GRCh37/hg19)
Size:
45,434 bases
Orientation:
Plus strand

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:
    • May form homodimers and heterodimers with TMCC2 or TMCC3 via the coiled-coil domains (PubMed:24454821). Interacts with ribosomal proteins RPL4 and RPS6 (PubMed:24454821). Interacts with APOE and proteolytic processed C-terminal fragment C99 of the amyloid precursor protein (APP C99) (PubMed:21593558).
    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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:

Suggested Antigen Peptide Sequences for TMCC2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53306, highly similar to Transmembrane and coiled-coil domains protein 2 (B7Z1P7_HUMAN)
  • TMCC2 protein (Q7Z6C6_HUMAN)
  • TMCC2 protein (Q8IW47_HUMAN)
  • Cerebral protein 11 (TMCC2_HUMAN)

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMCC2

Clone Products

  • Addgene plasmids for TMCC2

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

Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Concentrates in discrete patches along peripheral endoplasmic reticulum tubules. {ECO:0000269 PubMed:30220460}.

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 2
extracellular 1
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TMCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA,IDA 21593558
GO:0005789 endoplasmic reticulum membrane IEA --
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

PathCards logo

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,IBA 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

mRNA/cDNA for TMCC2 Gene

7 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMCC2

Clone Products

  • Addgene plasmids for TMCC2

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

Expression for TMCC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TMCC2 Gene



Protein tissue co-expression partners for TMCC2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMCC2 31 30
  • 92.3 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMCC2 31
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMCC2 31 30
  • 88.71 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tmcc2 17 31 30
  • 88.54 (n)
rat
(Rattus norvegicus)
Mammalia Tmcc2 30
  • 88.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMCC2 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMCC2 31 30
  • 80.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMCC2 31
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmcc2 30
  • 68.25 (n)
zebrafish
(Danio rerio)
Actinopterygii tmcc2 31 30
  • 77.95 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1021 31
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C15H9.4 31
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5281 31
  • 50 (a)
OneToMany
Cin.5750 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5750 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for TMCC2: view image

Paralogs for TMCC2 Gene

Paralogs for TMCC2 Gene

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

  • TMCC2_HUMAN
  • A6NJC0_HUMAN
  • G5E963_HUMAN
  • Q7Z6C6_HUMAN
  • Q8IW47_HUMAN
genes like me logo Genes that share paralogs with TMCC2: view

Variants for TMCC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMCC2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs77588763 Uncertain Significance: not provided 205,241,699(+) C/A NONSENSE

Additional dbSNP identifiers (rs#s) for TMCC2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TMCC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMCC2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
inflammatory spondylopathy
  • inflammatory spondylopathies in disease classified elsewhere
- elite association - COSMIC cancer census association via MalaCards
Search TMCC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TMCC2

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

No data available for 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 54
  2. Transmembrane and coiled-coil domain family 1 is a novel protein of the endoplasmic reticulum. (PMID: 24454821) Zhang C … Qi RZ (PloS one 2014) 3 4 54
  3. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 41 54
  4. 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 54
  5. 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 41 54

Products for TMCC2 Gene

Sources for TMCC2 Gene