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

Aliases for TMTC2 Gene

Aliases for TMTC2 Gene

  • Transmembrane And Tetratricopeptide Repeat Containing 2 2 3 5
  • Transmembrane And TPR Repeat-Containing Protein 2 3
  • IBDBP1 3

External Ids for TMTC2 Gene

Previous GeneCards Identifiers for TMTC2 Gene

  • GC12P081584
  • GC12P083080
  • GC12P080139

Summaries for TMTC2 Gene

Entrez Gene Summary for TMTC2 Gene

  • The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

GeneCards Summary for TMTC2 Gene

TMTC2 (Transmembrane And Tetratricopeptide Repeat Containing 2) is a Protein Coding gene. Diseases associated with TMTC2 include Glaucoma 1, Open Angle, E. GO annotations related to this gene include identical protein binding. An important paralog of this gene is TMTC1.

Gene Wiki entry for TMTC2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMTC2 Gene

Genomics for TMTC2 Gene

Regulatory Elements for TMTC2 Gene

Enhancers for TMTC2 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
GH12G082685 1.3 ENCODE dbSUPER 10.2 +0.0 28 3.1 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZNF2 ZBTB7B YY1 SLC30A9 CBX5 TMTC2 PIR32015
GH12G082649 1.2 Ensembl ENCODE 6.6 -35.9 -35928 2.6 TBP PKNOX1 INSM2 KLF17 RARA RFX5 GATA2 ZNF366 ZSCAN5C SCRT2 TMTC2 LOC100418732
GH12G082707 1.1 Ensembl ENCODE dbSUPER 6.7 +21.4 21351 1.8 SMARCE1 PKNOX1 MAX DPF2 ARID1B FOSL1 SMARCA4 GATA2 IKZF1 FOS TMTC2 PIR41667 PIR32015
GH12G082682 0.7 ENCODE 9.3 -3.9 -3884 0.2 NFIB CEBPB CEBPG DPF2 RAD21 FOXA1 ZNF217 CTBP1 JUND GATA3 TMTC2 LOC100418732
GH12G082698 0.4 dbSUPER 9.2 +12.7 12677 1.7 ZNF664 TMTC2 PIR41667 PIR32015
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMTC2 on UCSC Golden Path with GeneCards custom track

Promoters for TMTC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000054663 221 3000 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZNF2 ZBTB7B YY1 SLC30A9 CBX5

Genomic Location for TMTC2 Gene

Chromosome:
12
Start:
82,686,880 bp from pter
End:
83,134,870 bp from pter
Size:
447,991 bases
Orientation:
Plus strand

Genomic View for TMTC2 Gene

Genes around TMTC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMTC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMTC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMTC2 Gene

Proteins for TMTC2 Gene

  • Protein details for TMTC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N394-TMTC2_HUMAN
    Recommended name:
    Transmembrane and TPR repeat-containing protein 2
    Protein Accession:
    Q8N394
    Secondary Accessions:
    • B2RCU7
    • Q8N2K8

    Protein attributes for TMTC2 Gene

    Size:
    836 amino acids
    Molecular mass:
    94130 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC11102.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for TMTC2 Gene

Post-translational modifications for TMTC2 Gene

  • Glycosylation at Asn221
  • Modification sites at PhosphoSitePlus

Other Protein References for TMTC2 Gene

No data available for DME Specific Peptides for TMTC2 Gene

Domains & Families for TMTC2 Gene

Gene Families for TMTC2 Gene

Protein Domains for TMTC2 Gene

Suggested Antigen Peptide Sequences for TMTC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N394

UniProtKB/Swiss-Prot:

TMTC2_HUMAN :
  • Belongs to the TMTC family.
Family:
  • Belongs to the TMTC family.
genes like me logo Genes that share domains with TMTC2: view

Function for TMTC2 Gene

Gene Ontology (GO) - Molecular Function for TMTC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24764305
genes like me logo Genes that share ontologies with TMTC2: view

Phenotypes for TMTC2 Gene

genes like me logo Genes that share phenotypes with TMTC2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMTC2 Gene

Localization for TMTC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMTC2 Gene

Membrane; Multi-pass membrane protein.

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 TMTC2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
cytoskeleton 2
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for TMTC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane IDA 24764305
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMTC2: view

Pathways & Interactions for TMTC2 Gene

SuperPathways for TMTC2 Gene

No Data Available

Interacting Proteins for TMTC2 Gene

Selected Interacting proteins: Q8N394-TMTC2_HUMAN for TMTC2 Gene via IID MINT

Gene Ontology (GO) - Biological Process for TMTC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055074 calcium ion homeostasis IMP 24764305
genes like me logo Genes that share ontologies with TMTC2: view

No data available for Pathways by source and SIGNOR curated interactions for TMTC2 Gene

Transcripts for TMTC2 Gene

Unigene Clusters for TMTC2 Gene

Transmembrane and tetratricopeptide repeat containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMTC2 Gene

No ASD Table

Relevant External Links for TMTC2 Gene

GeneLoc Exon Structure for
TMTC2
ECgene alternative splicing isoforms for
TMTC2

Expression for TMTC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMTC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMTC2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.1).

Protein differential expression in normal tissues from HIPED for TMTC2 Gene

This gene is overexpressed in Liver (49.6) and Frontal cortex (16.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMTC2 Gene



Protein tissue co-expression partners for TMTC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMTC2 Gene:

TMTC2

SOURCE GeneReport for Unigene cluster for TMTC2 Gene:

Hs.577775

Evidence on tissue expression from TISSUES for TMTC2 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with TMTC2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMTC2 Gene

Orthologs for TMTC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMTC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMTC2 34 35
  • 99.4 (n)
cow
(Bos Taurus)
Mammalia TMTC2 34 35
  • 92.42 (n)
oppossum
(Monodelphis domestica)
Mammalia TMTC2 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMTC2 34 35
  • 89.67 (n)
mouse
(Mus musculus)
Mammalia Tmtc2 34 16 35
  • 88.8 (n)
rat
(Rattus norvegicus)
Mammalia Tmtc2 34
  • 88.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TMTC2 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMTC2 34 35
  • 81.28 (n)
lizard
(Anolis carolinensis)
Reptilia TMTC2 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmtc2 34
  • 76.44 (n)
zebrafish
(Danio rerio)
Actinopterygii TMTC2 (1 of 2) 35
  • 75 (a)
OneToMany
tmtc2 34 35
  • 66.51 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009112 34
  • 50.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4341 34 35
  • 48.28 (n)
CG31690 35
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F32D1.3 34 35
  • 43.7 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToOne
Species where no ortholog for TMTC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 TMTC2 Gene

ENSEMBL:
Gene Tree for TMTC2 (if available)
TreeFam:
Gene Tree for TMTC2 (if available)

Paralogs for TMTC2 Gene

Paralogs for TMTC2 Gene

(3) SIMAP similar genes for TMTC2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TMTC2: view

Variants for TMTC2 Gene

Sequence variations from dbSNP and Humsavar for TMTC2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000021391 -- 82,744,677(+) TAAAG(C/T)TTTAT intron-variant
rs1000021888 -- 82,772,720(+) ATTTA(A/G/T)TTCTT intron-variant
rs1000027750 -- 82,986,880(+) GAGCT(C/G)ACATA intron-variant
rs1000029974 -- 82,985,841(+) AGTAT(A/G)ATGAT intron-variant
rs1000034903 -- 82,945,482(+) TGTTT(C/T)AATGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMTC2 Gene

Variant ID Type Subtype PubMed ID
dgv1531n100 CNV loss 25217958
dgv1532n100 CNV loss 25217958
dgv2742n54 CNV loss 21841781
dgv2743n54 CNV loss 21841781
dgv2744n54 CNV loss 21841781
dgv33e180 CNV loss 20482838
dgv496e212 CNV loss 25503493
esv1003105 CNV deletion 20482838
esv1008305 CNV loss 20482838
esv1011810 CNV insertion 17803354
esv1419949 CNV insertion 17803354
esv2016291 CNV deletion 18987734
esv2421910 CNV deletion 20811451
esv2663704 CNV deletion 23128226
esv2746123 CNV deletion 23290073
esv2746124 CNV deletion 23290073
esv2746125 CNV deletion 23290073
esv2746126 CNV deletion 23290073
esv2759911 CNV loss 17122850
esv2760276 CNV loss 21179565
esv2760932 CNV loss 21179565
esv2889346 CNV deletion 24192839
esv29204 CNV loss 19812545
esv30004 CNV loss 17803354
esv3549491 CNV deletion 23714750
esv3580357 CNV loss 25503493
esv3630165 CNV loss 21293372
esv3630166 CNV loss 21293372
esv3630167 CNV gain 21293372
esv3630168 CNV loss 21293372
esv3630169 CNV loss 21293372
esv3630170 CNV loss 21293372
esv3630171 CNV loss 21293372
esv3892233 CNV loss 25118596
esv3892234 CNV gain 25118596
esv5126 CNV loss 18987735
esv9165 CNV gain 19470904
esv999149 CNV loss 20482838
nsv1047239 CNV gain 25217958
nsv1128670 CNV duplication 24896259
nsv1148112 CNV insertion 26484159
nsv437765 CNV loss 16327808
nsv442650 CNV loss 18776908
nsv469490 CNV loss 19166990
nsv469491 CNV loss 19166990
nsv469492 CNV loss 19166990
nsv469494 CNV loss 19166990
nsv469495 CNV loss 19166990
nsv477129 CNV novel sequence insertion 20440878
nsv480892 CNV novel sequence insertion 20440878
nsv507662 OTHER sequence alteration 20534489
nsv516625 CNV loss 19592680
nsv521849 CNV gain 19592680
nsv523902 CNV loss 19592680
nsv559541 CNV gain 21841781
nsv559542 CNV loss 21841781
nsv559543 CNV loss 21841781
nsv559556 CNV loss 21841781
nsv559557 CNV loss 21841781
nsv559558 CNV loss 21841781
nsv559559 CNV gain 21841781
nsv818928 CNV loss 17921354
nsv832472 CNV loss 17160897

Variation tolerance for TMTC2 Gene

Residual Variation Intolerance Score: 26.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.41; 63.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMTC2 Gene

Human Gene Mutation Database (HGMD)
TMTC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMTC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMTC2 Gene

Disorders for TMTC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMTC2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
glaucoma 1, open angle, e
  • primary open angle glaucoma
- elite association - COSMIC cancer census association via MalaCards
Search TMTC2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TMTC2

Genetic Association Database (GAD)
TMTC2
Human Genome Epidemiology (HuGE) Navigator
TMTC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMTC2
genes like me logo Genes that share disorders with TMTC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMTC2 Gene

Publications for TMTC2 Gene

  1. TMTC1 and TMTC2 are novel endoplasmic reticulum tetratricopeptide repeat-containing adapter proteins involved in calcium homeostasis. (PMID: 24764305) Sunryd J.C. … Hebert D.N. (J. Biol. Chem. 2014) 2 3 64
  2. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PMID: 22219177) Tao S. … Sun J. (Carcinogenesis 2012) 3 46 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population. (PMID: 19625618) Nakano M. … Tashiro K. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 46 64
  5. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PMID: 18519826) Uhl G.R. … Lerman C. (Arch. Gen. Psychiatry 2008) 3 46 64

Products for TMTC2 Gene

Sources for TMTC2 Gene

Content
Loading form....