Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, ... See more...

Aliases for TRAF7 Gene

Aliases for TRAF7 Gene

  • TNF Receptor Associated Factor 7 2 3 5
  • TNF Receptor-Associated Factor 7, E3 Ubiquitin Protein Ligase 2 3
  • RING Finger And WD Repeat-Containing Protein 1 3 4
  • RING-Type E3 Ubiquitin Transferase TRAF7 3 4
  • Ring Finger And WD Repeat Domain 1 2 3
  • E3 Ubiquitin-Protein Ligase TRAF7 3 4
  • RING Finger Protein 119 3 4
  • RNF119 3 4
  • RFWD1 3 4
  • TNF Receptor-Associated Factor 7 4
  • EC 2.3.2.27 4
  • CAFDADD 3

External Ids for TRAF7 Gene

Previous HGNC Symbols for TRAF7 Gene

  • RFWD1

Previous GeneCards Identifiers for TRAF7 Gene

  • GC16P002125
  • GC16P002146
  • GC16P002147
  • GC16P002205
  • GC16P002132
  • GC16P002156
  • GC16P002297
  • GC16P002334
  • GC16P002165
  • GC16P002188
  • GC16P002217
  • GC16P002245
  • GC16P002289

Summaries for TRAF7 Gene

Entrez Gene Summary for TRAF7 Gene

  • Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM, Apr 2004]

GeneCards Summary for TRAF7 Gene

TRAF7 (TNF Receptor Associated Factor 7) is a Protein Coding gene. Diseases associated with TRAF7 include Cardiac, Facial, And Digital Anomalies With Developmental Delay and Aortic Coarctation. Among its related pathways are Class I MHC mediated antigen processing and presentation and SMAD Signaling Network. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is FBXW7.

UniProtKB/Swiss-Prot Summary for TRAF7 Gene

  • E3 ubiquitin ligase capable of auto-ubiquitination, following phosphorylation by MAP3K3. Potentiates MAP3K3-mediated activation of the NF-kappa-B, JUN/AP1 and DDIT3 transcriptional regulators (PubMed:14743216). Induces apoptosis when overexpressed (PubMed:15001576). Plays a role in the phosphorylation of MAPK1 and/or MAPK3, probably via its interaction with MAP3K3.

Additional gene information for TRAF7 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRAF7 Gene

Genomics for TRAF7 Gene

GeneHancer (GH) Regulatory Elements for TRAF7 Gene

Promoters and enhancers for TRAF7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRAF7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TRAF7 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB

Genomic Locations for TRAF7 Gene

Genomic Locations for TRAF7 Gene
chr16:2,155,698-2,178,129
(GRCh38/hg38)
Size:
22,432 bases
Orientation:
Plus strand
chr16:2,205,699-2,228,130
(GRCh37/hg19)
Size:
22,432 bases
Orientation:
Plus strand

Genomic View for TRAF7 Gene

Genes around TRAF7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRAF7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRAF7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRAF7 Gene

Proteins for TRAF7 Gene

  • Protein details for TRAF7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6Q0C0-TRAF7_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase TRAF7
    Protein Accession:
    Q6Q0C0
    Secondary Accessions:
    • Q9H073

    Protein attributes for TRAF7 Gene

    Size:
    670 amino acids
    Molecular mass:
    74609 Da
    Quaternary structure:
    • Homodimer. Interacts with MAP3K3 and promotes the kinase activity of this enzyme.

    Alternative splice isoforms for TRAF7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRAF7 Gene

Post-translational modifications for TRAF7 Gene

Other Protein References for TRAF7 Gene

No data available for DME Specific Peptides for TRAF7 Gene

Domains & Families for TRAF7 Gene

Gene Families for TRAF7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TRAF7 Gene

GenScript: Design optimal peptide antigens:
  • TNF receptor-associated factor 7, isoform CRA_c (D3DU86_HUMAN)
  • TNF receptor-associated factor 7 (TRAF7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6Q0C0

UniProtKB/Swiss-Prot:

TRAF7_HUMAN :
  • Belongs to the WD repeat TRAF7 family.
Family:
  • Belongs to the WD repeat TRAF7 family.
genes like me logo Genes that share domains with TRAF7: view

Function for TRAF7 Gene

Molecular function for TRAF7 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin ligase capable of auto-ubiquitination, following phosphorylation by MAP3K3. Potentiates MAP3K3-mediated activation of the NF-kappa-B, JUN/AP1 and DDIT3 transcriptional regulators (PubMed:14743216). Induces apoptosis when overexpressed (PubMed:15001576). Plays a role in the phosphorylation of MAPK1 and/or MAPK3, probably via its interaction with MAP3K3.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27;.

Enzyme Numbers (IUBMB) for TRAF7 Gene

Phenotypes From GWAS Catalog for TRAF7 Gene

Gene Ontology (GO) - Molecular Function for TRAF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 14743216
GO:0005515 protein binding IPI 14743216
GO:0008270 zinc ion binding NAS 14743216
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TRAF7: view
genes like me logo Genes that share phenotypes with TRAF7: view

Human Phenotype Ontology for TRAF7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for TRAF7 Gene

miRTarBase miRNAs that target TRAF7

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TRAF7 Gene

Localization for TRAF7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRAF7 Gene

Cytoplasmic vesicle. Note=Colocalizes with MAP3K3 to vesicle-like structures throughout the cytoplasm.

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 TRAF7 gene
Compartment Confidence
plasma membrane 4
nucleus 4
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TRAF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 14743216
GO:0005730 nucleolus IBA 21873635
GO:0005886 plasma membrane IDA --
GO:0031410 cytoplasmic vesicle IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with TRAF7: view

Pathways & Interactions for TRAF7 Gene

genes like me logo Genes that share pathways with TRAF7: view

Pathways by source for TRAF7 Gene

2 Qiagen pathways for TRAF7 Gene
  • SMAD Signaling Network
  • Ubiquitin-Proteasome Dependent Proteolysis

UniProtKB/Swiss-Prot Q6Q0C0-TRAF7_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for TRAF7 Gene

Activates:

Gene Ontology (GO) - Biological Process for TRAF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000027 ribosomal large subunit assembly IBA 21873635
GO:0000185 activation of MAPKKK activity IDA 14743216
GO:0006915 apoptotic process IDA 15001576
GO:0007219 Notch signaling pathway IBA 21873635
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with TRAF7: view

Drugs & Compounds for TRAF7 Gene

No Compound Related Data Available

Transcripts for TRAF7 Gene

mRNA/cDNA for TRAF7 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TRAF7 Gene

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

ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for TRAF7 Gene

GeneLoc Exon Structure for
TRAF7
ECgene alternative splicing isoforms for
TRAF7

Expression for TRAF7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TRAF7 Gene

Protein differential expression in normal tissues from HIPED for TRAF7 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (35.4), Peripheral blood mononuclear cells (26.0), and Placenta (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TRAF7 Gene



Protein tissue co-expression partners for TRAF7 Gene

NURSA nuclear receptor signaling pathways regulating expression of TRAF7 Gene:

TRAF7

SOURCE GeneReport for Unigene cluster for TRAF7 Gene:

Hs.713632

mRNA Expression by UniProt/SwissProt for TRAF7 Gene:

Q6Q0C0-TRAF7_HUMAN
Tissue specificity: Ubiquitously expressed with high levels in skeletal muscle, heart, colon, spleen, kidney, liver and placenta.

Evidence on tissue expression from TISSUES for TRAF7 Gene

  • Nervous system(3.7)
  • Lung(2.9)
genes like me logo Genes that share expression patterns with TRAF7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRAF7 Gene

Orthologs for TRAF7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TRAF7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRAF7 33 32
  • 99.55 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TRAF7 33
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRAF7 33
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TRAF7 33 32
  • 92.18 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TRAF7 33 32
  • 91.89 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Traf7 32
  • 88.59 (n)
mouse
(Mus musculus)
Mammalia Traf7 17 33 32
  • 88.44 (n)
chicken
(Gallus gallus)
Aves TRAF7 33 32
  • 80.61 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRAF7 33
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia traf7 32
  • 79.38 (n)
Str.9899 32
African clawed frog
(Xenopus laevis)
Amphibia rfwd1-prov 32
zebrafish
(Danio rerio)
Actinopterygii traf7 33 32
  • 79.08 (n)
OneToOne
Dr.14712 32
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MET30 33
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.662 33
  • 65 (a)
OneToOne
Cin.10226 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10226 32
Species where no ortholog for TRAF7 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)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for TRAF7 Gene

ENSEMBL:
Gene Tree for TRAF7 (if available)
TreeFam:
Gene Tree for TRAF7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRAF7: view image

Paralogs for TRAF7 Gene

(1) SIMAP similar genes for TRAF7 Gene using alignment to 4 proteins:

  • TRAF7_HUMAN
  • D3DU86_HUMAN
  • H3BR17_HUMAN
  • H3BUP4_HUMAN

Pseudogenes.org Pseudogenes for TRAF7 Gene

genes like me logo Genes that share paralogs with TRAF7: view

Variants for TRAF7 Gene

Sequence variations from dbSNP and Humsavar for TRAF7 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1331463984 pathogenic, CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY, TRAF7-related developmental delay, congenital anomalies, and dysmorphic features, Cardiac, facial, and digital anomalies with developmental delay (CAFDADD) [MIM:618164] 2,176,350(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1567252467 pathogenic, CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY 2,173,504(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1567252659 pathogenic, CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY 2,173,812(+) C/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1567254067 pathogenic, CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY 2,176,103(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
VAR_081685 Cardiac, facial, and digital anomalies with developmental delay (CAFDADD) [MIM:618164] p.Lys346Glu

Structural Variations from Database of Genomic Variants (DGV) for TRAF7 Gene

Variant ID Type Subtype PubMed ID
dgv456n67 CNV gain 20364138
dgv4859n54 CNV loss 21841781
dgv4861n54 CNV loss 21841781
dgv4863n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
esv25100 CNV loss 19812545
esv2666961 CNV deletion 23128226
esv2750377 CNV deletion 23290073
esv3637629 CNV loss 21293372
nsv1052260 CNV gain 25217958
nsv457349 CNV loss 19166990
nsv457351 CNV loss 19166990
nsv471072 CNV loss 18288195
nsv571190 CNV loss 21841781
nsv827511 CNV gain 20364138
nsv952902 CNV deletion 24416366

Variation tolerance for TRAF7 Gene

Residual Variation Intolerance Score: 5.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRAF7 Gene

Human Gene Mutation Database (HGMD)
TRAF7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRAF7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRAF7 Gene

Disorders for TRAF7 Gene

MalaCards: The human disease database

(11) MalaCards diseases for TRAF7 Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cardiac, facial, and digital anomalies with developmental delay
  • cafdadd
aortic coarctation
  • coarctation of the aorta
skull base meningioma
  • meningioma of the skull base
skull base cancer
  • tumors of skull base
benign mesothelioma
  • benign tumor of mesothelium
- elite association - COSMIC cancer census association via MalaCards
Search TRAF7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRAF7_HUMAN
  • Cardiac, facial, and digital anomalies with developmental delay (CAFDADD) [MIM:618164]: An autosomal dominant disorder characterized by delayed motor and speech development, developmental regression, congenital heart defects, limb and digital anomalies, and dysmorphic features. Cardiac features include pulmonary stenosis, patent ductus arteriosus, aortic coarctation, valvular defects, hypoplastic left heart, double outlet right ventricle, and conduction abnormalities. Dysmorphic facial features include multiple hair whorls or hairline abnormalities, ptosis, epicanthal folds, and low-set or dysplastic ears. {ECO:0000269 PubMed:29961569}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TRAF7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TRAF7: view

No data available for Genatlas for TRAF7 Gene

Publications for TRAF7 Gene

  1. TRAF7 potentiates MEKK3-induced AP1 and CHOP activation and induces apoptosis. (PMID: 15001576) Xu LG … Shu HB (The Journal of biological chemistry 2004) 2 3 4 56
  2. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 56
  3. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. (PMID: 29961569) Tokita MJ … Wang X (American journal of human genetics 2018) 3 4 56
  4. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 43 56
  5. A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway. (PMID: 14743216) Bouwmeester T … Superti-Furga G (Nature cell biology 2004) 3 4 56

Products for TRAF7 Gene