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

Aliases for TMTC4 Gene

Aliases for TMTC4 Gene

  • Transmembrane And Tetratricopeptide Repeat Containing 4 2 3 5

External Ids for TMTC4 Gene

Previous GeneCards Identifiers for TMTC4 Gene

  • GC13M100055
  • GC13M101256
  • GC13M081852

Summaries for TMTC4 Gene

Entrez Gene Summary for TMTC4 Gene

  • This gene encodes a transmembrane protein that belongs to family of proteins containing an N-terminal transmembrane domain and a C-terminal tetratricopeptide repeat (TPR) domain. TPR domains mediate protein-protein interactions in various cellular processes, such as synaptic vesicle fusion, protein folding, and protein translocation. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Apr 2017]

GeneCards Summary for TMTC4 Gene

TMTC4 (Transmembrane And Tetratricopeptide Repeat Containing 4) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is TMTC2.

Gene Wiki entry for TMTC4 Gene

Additional gene information for TMTC4 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMTC4 Gene

Genomics for TMTC4 Gene

GeneHancer (GH) Regulatory Elements for TMTC4 Gene

Promoters and enhancers for TMTC4 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
GH13I100672 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 579.7 +0.7 744 3 PKNOX1 ARID4B SIN3A ZNF143 ZNF207 FOS SP3 SP5 NFYC JUNB TMTC4 GC13P100663 GC13P100662 GC13P100660
GH13I100644 Enhancer 0.5 dbSUPER 40.2 +25.7 25719 10.4 CTCF NFIL3 ZNF449 HLF HOMEZ RAD21 TMTC4 GGACT COX5BP6 GC13P100660 PIR32013 GC13P100625
GH13I100667 Enhancer 0.6 dbSUPER 28.2 +5.1 5116 5.5 SAP130 JUN ZNF384 NR2F2 RARA SKI ZNF121 POLR2A TCF7 BCL6 TMTC4 GC13P100660 GC13P100662 GC13P100663
GH13I100608 Enhancer 0.8 Ensembl ENCODE 21.1 +65.5 65498 2.8 SMARCE1 ETV1 MAX EBF1 DPF2 ZNF592 SNIP1 FOSL1 ZNF316 EGR1 TMTC4 GC13M100461 GC13M100582
GH13I100633 Enhancer 0.6 ENCODE dbSUPER 26.6 +41.5 41488 1.2 JUND GATA3 FOS TMTC4 COX5BP6 GC13P100625 GC13P100660 PIR32013
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMTC4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMTC4 gene promoter:

Genomic Locations for TMTC4 Gene

Genomic Locations for TMTC4 Gene
chr13:100,603,836-100,675,093
(GRCh38/hg38)
Size:
71,258 bases
Orientation:
Minus strand
chr13:101,256,090-101,327,347
(GRCh37/hg19)

Genomic View for TMTC4 Gene

Genes around TMTC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMTC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMTC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMTC4 Gene

Proteins for TMTC4 Gene

  • Protein details for TMTC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T4D3-TMTC4_HUMAN
    Recommended name:
    Transmembrane and TPR repeat-containing protein 4
    Protein Accession:
    Q5T4D3
    Secondary Accessions:
    • A6NLI7
    • B7Z666
    • Q5T4D4
    • Q5T4D5
    • Q5T4D6
    • Q8WV63
    • Q96SU8

    Protein attributes for TMTC4 Gene

    Size:
    741 amino acids
    Molecular mass:
    82991 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH18707.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AK056409; Type=Frameshift; Positions=268; Evidence={ECO:0000305}; Sequence=BAB55179.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI11004.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI11005.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI11006.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for TMTC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMTC4 Gene

Post-translational modifications for TMTC4 Gene

No Post-translational modifications

No data available for DME Specific Peptides for TMTC4 Gene

Domains & Families for TMTC4 Gene

Gene Families for TMTC4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TMTC4 Gene

Graphical View of Domain Structure for InterPro Entry

Q5T4D3

UniProtKB/Swiss-Prot:

TMTC4_HUMAN :
  • Belongs to the TMTC family.
Family:
  • Belongs to the TMTC family.
genes like me logo Genes that share domains with TMTC4: view

Function for TMTC4 Gene

Phenotypes for TMTC4 Gene

genes like me logo Genes that share phenotypes with TMTC4: view

Animal Models for TMTC4 Gene

MGI Knock Outs for TMTC4:

Animal Model Products

miRNA for TMTC4 Gene

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMTC4 Gene

Localization for TMTC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMTC4 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 TMTC4 gene
Compartment Confidence
plasma membrane 3
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TMTC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMTC4: view

Pathways & Interactions for TMTC4 Gene

SuperPathways for TMTC4 Gene

No Data Available

Interacting Proteins for TMTC4 Gene

Gene Ontology (GO) - Biological Process for TMTC4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMTC4 Gene

Drugs & Compounds for TMTC4 Gene

No Compound Related Data Available

Transcripts for TMTC4 Gene

Unigene Clusters for TMTC4 Gene

Transmembrane and tetratricopeptide repeat containing 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMTC4 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c ·
SP1: - - - -
SP2: - - - - -
SP3: -
SP4:
SP5: - - -
SP6: - -
SP7: - - - - - -
SP8:
SP9: - - -
SP10:
SP11:

ExUns: 18d ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for TMTC4 Gene

GeneLoc Exon Structure for
TMTC4
ECgene alternative splicing isoforms for
TMTC4

Expression for TMTC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMTC4 Gene

Protein differential expression in normal tissues from HIPED for TMTC4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (54.8) and Retina (14.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMTC4 Gene



Protein tissue co-expression partners for TMTC4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMTC4 Gene:

TMTC4

SOURCE GeneReport for Unigene cluster for TMTC4 Gene:

Hs.190983

Evidence on tissue expression from TISSUES for TMTC4 Gene

  • Nervous system(4.9)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with TMTC4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMTC4 Gene

Orthologs for TMTC4 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMTC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMTC4 33 34
  • 99.22 (n)
cow
(Bos Taurus)
Mammalia TMTC4 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMTC4 33 34
  • 88.43 (n)
mouse
(Mus musculus)
Mammalia Tmtc4 33 16 34
  • 88.02 (n)
rat
(Rattus norvegicus)
Mammalia Tmtc4 33
  • 87.79 (n)
oppossum
(Monodelphis domestica)
Mammalia TMTC4 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMTC4 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMTC4 33 34
  • 77.55 (n)
lizard
(Anolis carolinensis)
Reptilia TMTC4 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmtc4 33
  • 71.33 (n)
zebrafish
(Danio rerio)
Actinopterygii tmtc4 33 34
  • 67.26 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG5038 33 34
  • 50.46 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003363 33
  • 48.68 (n)
worm
(Caenorhabditis elegans)
Secernentea F38B6.6 33 34
  • 48.34 (n)
Species where no ortholog for TMTC4 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 TMTC4 Gene

ENSEMBL:
Gene Tree for TMTC4 (if available)
TreeFam:
Gene Tree for TMTC4 (if available)

Paralogs for TMTC4 Gene

Paralogs for TMTC4 Gene

(3) SIMAP similar genes for TMTC4 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for TMTC4 Gene

genes like me logo Genes that share paralogs with TMTC4: view

Variants for TMTC4 Gene

Sequence variations from dbSNP and Humsavar for TMTC4 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs144940475 A breast cancer sample 100,612,442(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs587779382 uncertain-significance, Worster Drought syndrome 100,636,542(-) G/A coding_sequence_variant, missense_variant
rs1000019729 -- 100,670,000(-) G/A intron_variant
rs1000037176 -- 100,655,091(-) G/A intron_variant
rs1000045000 -- 100,629,331(-) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TMTC4 Gene

Variant ID Type Subtype PubMed ID
nsv7247 OTHER inversion 18451855
nsv522365 CNV loss 19592680
nsv1126351 CNV deletion 24896259
nsv1113596 CNV deletion 24896259
nsv1070608 CNV deletion 25765185
nsv1037414 CNV loss 25217958
esv3550979 CNV deletion 23714750

Variation tolerance for TMTC4 Gene

Residual Variation Intolerance Score: 8.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.37; 63.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMTC4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMTC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMTC4 Gene

Disorders for TMTC4 Gene

Additional Disease Information for TMTC4

No disorders were found for TMTC4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMTC4 Gene

Publications for TMTC4 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for TMTC4 Gene

Sources for TMTC4 Gene

Content
Loading form....