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Aliases for TMEM79 Gene

Aliases for TMEM79 Gene

  • Transmembrane Protein 79 2 3 5
  • Mattrin 2 3 4
  • MATT 3 4

External Ids for TMEM79 Gene

Previous GeneCards Identifiers for TMEM79 Gene

  • GC01P154519
  • GC01P127613

Summaries for TMEM79 Gene

GeneCards Summary for TMEM79 Gene

TMEM79 (Transmembrane Protein 79) is a Protein Coding gene. Diseases associated with TMEM79 include Angular Cheilitis and Actinomycosis.

UniProtKB/Swiss-Prot for TMEM79 Gene

  • Contributes to the epidermal integrity and skin barrier function. Plays a role in the lamellar granule (LG) secretory system and in the stratum corneum (SC) epithelial cell formation (By similarity).

Additional gene information for TMEM79 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM79 Gene

Genomics for TMEM79 Gene

GeneHancer (GH) Regulatory Elements for TMEM79 Gene

Promoters and enhancers for TMEM79 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
GH01I156281 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 +0.3 345 4.4 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 SMG5 TMEM79 GLMP KHDC4 GON4L RRNAD1 YY1AP1 SLC25A44 PAQR6 BGLAP
GH01I156689 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 1.4 +409.1 409087 6 HDGF PKNOX1 ARNT ARID4B NEUROD1 SIN3A ZBTB7B SLC30A9 POLR2B ZNF766 ENSG00000237588 KHDC4 RRNAD1 GON4L MSTO2P LOC246784 CCT3 LOC105371453 BCAN ISG20L2
GH01I156290 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 0.4 +9.0 9005 2.1 MLX ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 SLC30A9 SP3 RXRA PAQR6 GLMP BGLAP TSACC CCT3 MIR9-1 C1orf61 LAMTOR2 UBQLN4 KHDC4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM79 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM79 gene promoter:

Genomic Locations for TMEM79 Gene

Genomic Locations for TMEM79 Gene
chr1:156,282,913-156,293,185
(GRCh38/hg38)
Size:
10,273 bases
Orientation:
Plus strand
chr1:156,252,704-156,262,976
(GRCh37/hg19)

Genomic View for TMEM79 Gene

Genes around TMEM79 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM79 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM79 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM79 Gene

Proteins for TMEM79 Gene

  • Protein details for TMEM79 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSE2-TMM79_HUMAN
    Recommended name:
    Transmembrane protein 79
    Protein Accession:
    Q9BSE2
    Secondary Accessions:
    • B2RE22
    • D3DVB8

    Protein attributes for TMEM79 Gene

    Size:
    394 amino acids
    Molecular mass:
    43520 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TMEM79 Gene

Post-translational modifications for TMEM79 Gene

No Post-translational modifications

Other Protein References for TMEM79 Gene

No data available for DME Specific Peptides for TMEM79 Gene

Domains & Families for TMEM79 Gene

Gene Families for TMEM79 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TMEM79 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM79 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TMEM79: view

No data available for UniProtKB/Swiss-Prot for TMEM79 Gene

Function for TMEM79 Gene

Molecular function for TMEM79 Gene

UniProtKB/Swiss-Prot Function:
Contributes to the epidermal integrity and skin barrier function. Plays a role in the lamellar granule (LG) secretory system and in the stratum corneum (SC) epithelial cell formation (By similarity).

Phenotypes From GWAS Catalog for TMEM79 Gene

Gene Ontology (GO) - Molecular Function for TMEM79 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IPI 21516116
genes like me logo Genes that share ontologies with TMEM79: view
genes like me logo Genes that share phenotypes with TMEM79: view

Animal Models for TMEM79 Gene

MGI Knock Outs for TMEM79:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMEM79 Gene

Localization for TMEM79 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM79 Gene

Lysosome. Golgi apparatus, trans-Golgi network. Membrane; Multi-pass membrane protein. Note=Colocalized with TGOLN2 in the trans-Golgi network. Colocalized with LAMP1 in the lysosome (By similarity). {ECO:0000250}.

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 TMEM79 gene
Compartment Confidence
lysosome 4
golgi apparatus 4
plasma membrane 3
nucleus 2
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM79 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,ISS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TMEM79: view

Pathways & Interactions for TMEM79 Gene

SuperPathways for TMEM79 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM79 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002070 epithelial cell maturation ISS --
GO:0031069 hair follicle morphogenesis IEA --
GO:0042335 cuticle development IEA --
GO:0045055 regulated exocytosis ISS,IEA --
GO:0045684 positive regulation of epidermis development ISS,IEA --
genes like me logo Genes that share ontologies with TMEM79: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM79 Gene

Drugs & Compounds for TMEM79 Gene

No Compound Related Data Available

Transcripts for TMEM79 Gene

Unigene Clusters for TMEM79 Gene

Transmembrane protein 79:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM79 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: - - - -
SP2: - - -
SP3: - - - - -
SP4: - -
SP5:
SP6:

Relevant External Links for TMEM79 Gene

GeneLoc Exon Structure for
TMEM79
ECgene alternative splicing isoforms for
TMEM79

Expression for TMEM79 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM79 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMEM79 Gene

This gene is overexpressed in Esophagus - Mucosa (x12.0), Skin - Sun Exposed (Lower leg) (x6.8), Skin - Not Sun Exposed (Suprapubic) (x6.8), and Vagina (x5.5).

Protein differential expression in normal tissues from HIPED for TMEM79 Gene

This gene is overexpressed in Plasma (67.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TMEM79 Gene



Protein tissue co-expression partners for TMEM79 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMEM79 Gene:

TMEM79

SOURCE GeneReport for Unigene cluster for TMEM79 Gene:

Hs.347408

mRNA Expression by UniProt/SwissProt for TMEM79 Gene:

Q9BSE2-TMM79_HUMAN
Tissue specificity: Expressed in the epidermis of the skin. Expressed in epithelial cells of the outermost layer of the stratum granulosum (SG) and hair follicles (at protein level).

Evidence on tissue expression from TISSUES for TMEM79 Gene

  • Skin(4.5)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with TMEM79: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM79 Gene

Orthologs for TMEM79 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM79 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM79 33 34
  • 99.41 (n)
cow
(Bos Taurus)
Mammalia TMEM79 33 34
  • 88.07 (n)
dog
(Canis familiaris)
Mammalia TMEM79 33 34
  • 83.25 (n)
rat
(Rattus norvegicus)
Mammalia Tmem79 33
  • 82.01 (n)
mouse
(Mus musculus)
Mammalia Tmem79 33 16 34
  • 81.67 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM79 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM79 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM79 33 34
  • 65.05 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM79 34
  • 47 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16345 33
zebrafish
(Danio rerio)
Actinopterygii tmem79b 34
  • 35 (a)
OneToMany
tmem79a 34
  • 32 (a)
OneToMany
Species where no ortholog for TMEM79 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM79 Gene

ENSEMBL:
Gene Tree for TMEM79 (if available)
TreeFam:
Gene Tree for TMEM79 (if available)

Paralogs for TMEM79 Gene

No data available for Paralogs for TMEM79 Gene

Variants for TMEM79 Gene

Sequence variations from dbSNP and Humsavar for TMEM79 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000242419 -- 156,291,240(+) A/G intron_variant
rs1000528571 -- 156,285,065(+) G/C intron_variant
rs1000665367 -- 156,291,779(+) C/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1001247941 -- 156,289,471(+) G/C intron_variant
rs1001476609 -- 156,290,276(+) TCTTCTTCTTC/TCTTCTTC intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM79 Gene

Variant ID Type Subtype PubMed ID
nsv547968 CNV loss 21841781
nsv509524 CNV insertion 20534489

Variation tolerance for TMEM79 Gene

Residual Variation Intolerance Score: 97.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.88; 67.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM79 Gene

Human Gene Mutation Database (HGMD)
TMEM79
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM79

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM79 Gene

Disorders for TMEM79 Gene

MalaCards: The human disease database

(9) MalaCards diseases for TMEM79 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
angular cheilitis
  • angular cheilosis
actinomycosis
  • actinomycetoma
atrophic glossitis
  • atrophy of tongue papillae
opportunistic bacterial infectious disease
nocardiosis
  • nocardia infectious disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TMM79_HUMAN
  • Note=Defects in TMEM79 may be associated with susceptibility to atopic dermatitis. Atopic dermatitis is a complex, inflammatory disease with multiple alleles at several loci thought to be involved in the pathogenesis. It commonly begins in infancy or early childhood and is characterized by a chronic relapsing form of skin inflammation, a disturbance of epidermal barrier function that culminates in dry skin, and IgE-mediated sensitization to food and environmental allergens. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. {ECO:0000269 PubMed:24084074}.

Additional Disease Information for TMEM79

genes like me logo Genes that share disorders with TMEM79: view

No data available for Genatlas for TMEM79 Gene

Publications for TMEM79 Gene

  1. Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects. (PMID: 24084074) Saunders SP … Fallon PG (The Journal of allergy and clinical immunology 2013) 3 4 58
  2. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PMID: 20139978) Kamatani Y … Kamatani N (Nature genetics 2010) 3 44 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. 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

Products for TMEM79 Gene

Sources for TMEM79 Gene

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