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Aliases for C7orf76 Gene

Aliases for C7orf76 Gene

  • Chromosome 7 Open Reading Frame 76 2 3
  • Split Hand/Foot Malformation (Ectrodactyly) Type 1 5
  • SHFM1 5

External Ids for C7orf76 Gene

Previous GeneCards Identifiers for C7orf76 Gene

  • GC07M096111

Summaries for C7orf76 Gene

GeneCards Summary for C7orf76 Gene

C7orf76 (Chromosome 7 Open Reading Frame 76) is a Protein Coding gene. Diseases associated with C7orf76 include Split Hand Foot Malformation. Among its related pathways are RET signaling and Regulation of activated PAK-2p34 by proteasome mediated degradation.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C7orf76 Gene

Genomics for C7orf76 Gene

Regulatory Elements for C7orf76 Gene

Enhancers for C7orf76 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
GH07F096833 0.9 ENCODE 10.7 -124.0 -124001 1.4 MLX THRB ZSCAN9 DNMT3B RARA CREM MIXL1 THAP11 HMG20B CEBPB C7orf76 SEM1 DLX6 MARK2P10 LOC105375414
GH07F096596 0.6 ENCODE 10.5 +113.2 113228 0.2 L3MBTL2 ZNF341 MYNN JUNB TCF7 PRDM10 MNT C7orf76 SEM1 GC07M096611 LOC105375412
GH07F096666 0.3 FANTOM5 11.3 +43.3 43321 0.2 C7orf76 SEM1 LOC100506136
GH07F096708 1.1 ENCODE 0.8 +0.4 445 2.3 HDGF CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF143 ZNF263 SEM1 C7orf76 LOC100506136
GH07F096785 1.2 Ensembl ENCODE 0.2 -76.7 -76669 1.4 MLX ARID4B DMAP1 ZNF2 YY1 SP5 YY2 REST MIER2 KAT8 LOC105375414 C7orf76 SEM1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C7orf76 on UCSC Golden Path with GeneCards custom track

Promoters for C7orf76 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000067904 491 2400 HDGF CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF143 ZNF263

Genomic Location for C7orf76 Gene

Chromosome:
7
Start:
96,481,626 bp from pter
End:
96,709,891 bp from pter
Size:
228,266 bases
Orientation:
Minus strand

Genomic View for C7orf76 Gene

Genes around C7orf76 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C7orf76 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C7orf76 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C7orf76 Gene

Proteins for C7orf76 Gene

  • Protein details for C7orf76 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZVN7-CG076_HUMAN
    Recommended name:
    Putative uncharacterized protein C7orf76
    Protein Accession:
    Q6ZVN7

    Protein attributes for C7orf76 Gene

    Size:
    128 amino acids
    Molecular mass:
    14085 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C7orf76 Gene

Post-translational modifications for C7orf76 Gene

No Post-translational modifications

No data available for DME Specific Peptides for C7orf76 Gene

Domains & Families for C7orf76 Gene

Protein Domains for C7orf76 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C7orf76: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C7orf76 Gene

Function for C7orf76 Gene

Gene Ontology (GO) - Molecular Function for C7orf76 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with C7orf76: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C7orf76 Gene

Localization for C7orf76 Gene

Gene Ontology (GO) - Cellular Components for C7orf76 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008541 proteasome regulatory particle, lid subcomplex IEA --
GO:0032039 integrator complex IDA --
genes like me logo Genes that share ontologies with C7orf76: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for C7orf76 Gene

Pathways & Interactions for C7orf76 Gene

SuperPathways for C7orf76 Gene

SuperPathway Contained pathways
1 Regulation of activated PAK-2p34 by proteasome mediated degradation
.78
.32
2 RET signaling
3 HIV Life Cycle
.45
4 Class I MHC mediated antigen processing and presentation
5 Cell Cycle, Mitotic
.60
genes like me logo Genes that share pathways with C7orf76: view

Gene Ontology (GO) - Biological Process for C7orf76 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IBA --
GO:0006406 mRNA export from nucleus IEA --
GO:0006508 proteolysis IBA --
GO:0043248 proteasome assembly IEA --
genes like me logo Genes that share ontologies with C7orf76: view

No data available for SIGNOR curated interactions for C7orf76 Gene

Transcripts for C7orf76 Gene

Unigene Clusters for C7orf76 Gene

Chromosome 7 open reading frame 76:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C7orf76 Gene

No ASD Table

Relevant External Links for C7orf76 Gene

GeneLoc Exon Structure for
C7orf76
ECgene alternative splicing isoforms for
C7orf76

Expression for C7orf76 Gene

NURSA nuclear receptor signaling pathways regulating expression of C7orf76 Gene:

C7orf76

SOURCE GeneReport for Unigene cluster for C7orf76 Gene:

Hs.734935
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for C7orf76 Gene

Orthologs for C7orf76 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C7orf76 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Shfm1 35
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SHFM1 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC100609753 34
  • 98.44 (n)
SHFM1 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SHFM1 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SHFM1 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves SHFM1 35
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SHFM1 35
  • 100 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii shfm1 35
  • 97 (a)
OneToOne
Species where no ortholog for C7orf76 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 C7orf76 Gene

ENSEMBL:
Gene Tree for C7orf76 (if available)
TreeFam:
Gene Tree for C7orf76 (if available)

Paralogs for C7orf76 Gene

(1) SIMAP similar genes for C7orf76 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for C7orf76 Gene

genes like me logo Genes that share paralogs with C7orf76: view

No data available for Paralogs for C7orf76 Gene

Variants for C7orf76 Gene

Sequence variations from dbSNP and Humsavar for C7orf76 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10238953 -- 96,495,663(+) CATGG(A/G)TGTTT intron-variant
rs10248849 -- 96,485,478(+) aggcc(C/G)ttgtg intron-variant
rs10250692 -- 96,487,501(+) gtggc(C/T)gactc intron-variant
rs10281460 -- 96,485,787(+) TGTCC(A/G)CCTCG intron-variant
rs10429035 -- 96,490,169(+) TTCAC(A/G)GTCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C7orf76 Gene

Variant ID Type Subtype PubMed ID
nsv831064 CNV gain 17160897
esv3614213 CNV loss 21293372
esv27008 CNV loss 19812545
esv2660164 CNV deletion 23128226

Variation tolerance for C7orf76 Gene

Gene Damage Index Score: 0.37; 8.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C7orf76 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C7orf76

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C7orf76 Gene

Disorders for C7orf76 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C7orf76 Gene - From: GeneCards

Disorder Aliases PubMed IDs
split hand foot malformation
  • ectrodactyly
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for C7orf76

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C7orf76
genes like me logo Genes that share disorders with C7orf76: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C7orf76 Gene

Publications for C7orf76 Gene

  1. Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. (PMID: 24249740) Zhang L. … Deng H.W. (Hum. Mol. Genet. 2014) 3 64
  2. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. (PMID: 22504420) Estrada K. … Rivadeneira F. (Nat. Genet. 2012) 3 64
  3. Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. (PMID: 19801982) Rivadeneira F. … Uitterlinden A.G. (Nat. Genet. 2009) 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4 64
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 4 64

Products for C7orf76 Gene

Sources for C7orf76 Gene

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