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
  • Transmembrane And TPR Repeat-Containing Protein 2 3
  • IBDBP1, Transcript 1 3
  • IBDBP1 Transcript 2 3
  • IBDBP1 3

External Ids for TMTC2 Gene

Summaries for TMTC2 Gene

GeneCards Summary for TMTC2 Gene

TMTC2 is a Protein Coding gene. An important paralog of this gene is TMTC3.

Gene Wiki entry for TMTC2 Gene

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

Genomics for TMTC2 Gene

Genomic Location for TMTC2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMTC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMTC2 Gene

Regulatory Elements 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

Proteomics data for TMTC2 Gene at MOPED

Post-translational modifications for TMTC2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn221

Other Protein References for TMTC2 Gene

No data available for DME Specific Peptides for TMTC2 Gene

Domains for TMTC2 Gene

Gene Families for TMTC2 Gene

HGNC:
  • TTC :Tetratricopeptide (TTC) repeat domain containing

Protein Domains for TMTC2 Gene

UniProtKB/Swiss-Prot:

TMTC2_HUMAN
Family:
  • Belongs to the TMTC family.:
    • Q8N394
Similarity:
  • Contains 10 TPR repeats.:
    • Q8N394
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
GO:0042802 identical protein binding --
genes like me logo Genes that share ontologies with TMTC2: view

miRNA for TMTC2 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for TMTC2 Gene COMPARTMENTS Subcellular localization image for TMTC2 gene
Compartment Confidence
endoplasmic reticulum 4
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:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMTC2: view

Pathways for TMTC2 Gene

SuperPathways for TMTC2 Gene

No Data Available

Interacting Proteins for TMTC2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000322300%0d%0a9606.ENSP00000334499%0d%0a
Selected Interacting proteins: ENSP00000322300 Q8N394-TMTC2_HUMAN for TMTC2 Gene via STRING I2D

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 for TMTC2 Gene

Transcripts for TMTC2 Gene

Unigene Clusters for TMTC2 Gene

Transmembrane and tetratricopeptide repeat containing 2:
Representative Sequences:

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 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) (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for TMTC2 Gene

SOURCE GeneReport for Unigene cluster for TMTC2 Gene Hs.577775

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

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 36
  • 99.4 (n)
  • 99.4 (a)
TMTC2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMTC2 36
  • 92.42 (n)
  • 96.17 (a)
TMTC2 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMTC2 36
  • 89.67 (n)
  • 95.45 (a)
TMTC2 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmtc2 36
  • 88.8 (n)
  • 95.69 (a)
Tmtc2 16
Tmtc2 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMTC2 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMTC2 37
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmtc2 36
  • 88.56 (n)
  • 96.05 (a)
chicken
(Gallus gallus)
Aves TMTC2 36
  • 81.28 (n)
  • 87.16 (a)
TMTC2 37
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMTC2 37
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmtc2 36
  • 76.44 (n)
  • 82.78 (a)
zebrafish
(Danio rerio)
Actinopterygii tmtc2 36
  • 66.51 (n)
  • 71.86 (a)
tmtc2 37
  • 69 (a)
OneToMany
TMTC2 (1 of 2) 37
  • 75 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009112 36
  • 50.29 (n)
  • 45.36 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31690 37
  • 35 (a)
OneToMany
CG4341 36
  • 48.28 (n)
  • 43.27 (a)
CG4341 37
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F32D1.3 36
  • 43.7 (n)
  • 34.93 (a)
F32D1.3 37
  • 32 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 39 (a)
OneToOne
Species with no ortholog for TMTC2:
  • 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

Selected 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 MAF
rs2111 -- 82,813,368(+) TTTAC(C/T)AAGTG intron-variant
rs366075 -- 82,983,182(-) AGTGT(G/T)TACTA intron-variant
rs367012 -- 83,050,856(-) CATGA(A/C)ACAAT intron-variant
rs367772 -- 83,043,529(-) AAACA(C/G)AACAT intron-variant
rs369299 -- 83,043,092(-) CTCTA(G/T)CCTTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv899348 CNV Gain 21882294
nsv899349 CNV Gain 21882294
nsv521849 CNV Gain 19592680
esv1008305 CNV Loss 20482838
esv5126 CNV Deletion 18987735
nsv507662 CNV Insertion 20534489
nsv469490 CNV Loss 19166990
dgv523e1 CNV Complex 17122850
nsv469491 CNV Loss 19166990
esv999149 CNV Loss 20482838
esv1003105 CNV Deletion 20482838
nsv899350 CNV Loss 21882294
nsv899351 CNV Loss 21882294
dgv33e180 CNV Loss 20482838
essv19112 CNV CNV 17122850
esv30004 CNV Loss 17803354
nsv469492 CNV Loss 19166990
nsv516625 CNV Loss 19592680
nsv818928 CNV Loss 17921354
nsv469494 CNV Loss 19166990
nsv437765 CNV Loss 16327808
esv2663704 CNV Deletion 23128226
esv2421910 CNV Deletion 20811451
nsv442650 CNV CNV 18776908
nsv832472 CNV Loss 17160897
esv29204 CNV Loss 19812545
esv2746123 CNV Deletion 23290073
esv2746124 CNV Deletion 23290073
esv1419949 CNV Insertion 17803354
esv2746125 CNV Deletion 23290073
nsv469495 CNV Loss 19166990
esv2016291 CNV Deletion 18987734
esv1011810 CNV Insertion 17803354
nsv523902 CNV Loss 19592680
esv9165 CNV Gain 19470904
esv2746126 CNV Deletion 23290073

Relevant External Links for TMTC2 Gene

HapMap Linkage Disequilibrium report
TMTC2

Disorders for TMTC2 Gene

(1) University of Copenhagen DISEASES for TMTC2 Gene

Relevant External Links for TMTC2

Genetic Association Database (GAD)
TMTC2
Human Genome Epidemiology (HuGE) Navigator
TMTC2
genes like me logo Genes that share disorders with TMTC2: view

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

Publications for TMTC2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. 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 49
  4. 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 49
  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 49

Products for TMTC2 Gene

Sources for TMTC2 Gene

Back to Top

Content