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. 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
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
GH01J205225 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 777.4 +0.5 480 4.8 ZBTB40 SP1 CTCF ZBTB6 SMARCE1 NFYC L3MBTL2 ZNF121 POLR2A RAD21 TMCC2 MDM4 ELK4 DSTYK PPP1R15B ENSG00000225063
GH01J205259 Promoter/Enhancer 0.6 EPDnew dbSUPER 761.7 +29.3 29267 0.1 POLR2A TMCC2 DSTYK ENSG00000225063 NUAK2 CNTN2 RF00017-454 LOC101929459
GH01J205120 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 41.7 -106.0 -106047 3.1 E2F8 FOXK2 ZNF785 SIN3A ZNF24 SP1 ZBTB40 CTCF SIX5 ZBTB6 RBBP5 lnc-DSTYK-2 lnc-CNTN2-7 MDM4 PPP1R15B ELK4 TMCC2 DSTYK CNTN2 NFASC
GH01J205246 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 45.9 +20.8 20760 5.7 SMARCE1 TEAD4 ZKSCAN8 CBFA2T2 SMARCA4 IKZF1 GLIS2 CREB1 ZIC2 PRDM10 TMCC2 DSTYK CNTN2 ELK4 PPP1R15B MDM4 CDK18 LOC100420878 NUAK2 TMEM81
GH01J205210 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 22.3 -16.7 -16709 3.6 ZNF785 SIN3A SP1 ZBTB40 SIX5 ZBTB6 RBPJ POLR2A CTBP1 CREB1 DSTYK MDM4 ELK4 PPP1R15B RBBP5 TMCC2 NFASC CNTN2 NUCKS1 RPL13AP11
- 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

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

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

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

CRISPR Products

Inhibitory RNA Products

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

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, 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 32
  • 99.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMCC2 33 32
  • 92.3 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMCC2 33
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMCC2 33 32
  • 88.71 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tmcc2 17 33 32
  • 88.54 (n)
rat
(Rattus norvegicus)
Mammalia Tmcc2 32
  • 88.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMCC2 33
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMCC2 33 32
  • 80.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMCC2 33
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmcc2 32
  • 68.25 (n)
zebrafish
(Danio rerio)
Actinopterygii tmcc2 33 32
  • 77.95 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1021 33
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C15H9.4 33
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5281 33
  • 50 (a)
OneToMany
Cin.5750 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5750 32
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 from dbSNP and Humsavar for TMCC2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs77588763 uncertain-significance, not provided 205,241,699(+) C/A/T coding_sequence_variant, genic_upstream_transcript_variant, stop_gained, synonymous_variant
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

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

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 56
  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 56
  3. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 43 56
  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 56
  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 43 56

Products for TMCC2 Gene

Sources for TMCC2 Gene