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Aliases for C7orf43 Gene

Aliases for C7orf43 Gene

  • Chromosome 7 Open Reading Frame 43 2 3 5
  • Uncharacterized Protein C7orf43 3

External Ids for C7orf43 Gene

Previous GeneCards Identifiers for C7orf43 Gene

  • GC07M099589
  • GC07M099752
  • GC07M094387

Summaries for C7orf43 Gene

GeneCards Summary for C7orf43 Gene

C7orf43 (Chromosome 7 Open Reading Frame 43) is a Protein Coding gene.

Gene Wiki entry for C7orf43 Gene

Additional gene information for C7orf43 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C7orf43 Gene

Genomics for C7orf43 Gene

GeneHancer (GH) Regulatory Elements for C7orf43 Gene

Promoters and enhancers for C7orf43 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
GH07J100153 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +2.4 2392 6.4 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 POLR2B C7orf43 MIR4658 PIR34225 ZSCAN25 GIGYF1 ENSG00000242798 AP4M1 SRRT ZNF3 ZNF655
GH07J100343 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.8 -186.3 -186311 3 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 E2F8 ZNF207 ZNF143 FOS PILRA C7orf43 MBLAC1 ZCWPW1 MEPCE FAM200A LAMTOR4 ENSG00000241357 GPC2 GAL3ST4
GH07J100538 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11 -385.9 -385892 12.6 CLOCK MLX DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 AGFG2 SRRT PPP1R35 ZSCAN25 SAP25 GIGYF1 MEPCE AP4M1 LRCH4 ENSG00000242798
GH07J100364 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.2 -212.2 -212248 12.5 HDGF PKNOX1 ATF1 YBX1 ZBTB7B ZNF121 POLR2B E2F8 ZNF207 ZNF143 PILRA ZCWPW1 MEPCE MOSPD3 LAMTOR4 C7orf43 PVRIG ENSG00000241357 STAG3 GPC2
GH07J100427 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 11 -274.5 -274478 10.8 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 PPP1R35 MEPCE ZCWPW1 PIR54054 ZSCAN25 SRRT TRIM4 GIGYF1 ZNF3 PILRA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C7orf43 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C7orf43 gene promoter:
  • E2F-3a
  • AREB6
  • Sp1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-4
  • E2F-5
  • c-Myc
  • Max1

Genomic Locations for C7orf43 Gene

Genomic Locations for C7orf43 Gene
chr7:100,154,420-100,158,721
(GRCh38/hg38)
Size:
4,302 bases
Orientation:
Minus strand
chr7:99,752,043-99,756,338
(GRCh37/hg19)
Size:
4,296 bases
Orientation:
Minus strand

Genomic View for C7orf43 Gene

Genes around C7orf43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C7orf43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C7orf43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C7orf43 Gene

Proteins for C7orf43 Gene

  • Protein details for C7orf43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVR3-CG043_HUMAN
    Recommended name:
    Uncharacterized protein C7orf43
    Protein Accession:
    Q8WVR3
    Secondary Accessions:
    • A4D2A9
    • D6W5U4
    • Q9BQJ1
    • Q9BUB6
    • Q9NV47

    Protein attributes for C7orf43 Gene

    Size:
    580 amino acids
    Molecular mass:
    62597 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAB66490.1; Type=Frameshift; Positions=539; Evidence={ECO:0000305};

    Alternative splice isoforms for C7orf43 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C7orf43 Gene

Post-translational modifications for C7orf43 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C7orf43 Gene

No data available for DME Specific Peptides for C7orf43 Gene

Domains & Families for C7orf43 Gene

Gene Families for C7orf43 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C7orf43 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C7orf43 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C7orf43: view

No data available for UniProtKB/Swiss-Prot for C7orf43 Gene

Function for C7orf43 Gene

Phenotypes From GWAS Catalog for C7orf43 Gene

genes like me logo Genes that share phenotypes with C7orf43: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C7orf43 Gene

Localization for C7orf43 Gene

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 C7orf43 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule organizing center (4)
  • Vesicles (4)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C7orf43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005815 microtubule organizing center IDA --
GO:0005886 plasma membrane IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with C7orf43: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C7orf43 Gene

Pathways & Interactions for C7orf43 Gene

SuperPathways for C7orf43 Gene

No Data Available

Interacting Proteins for C7orf43 Gene

Gene Ontology (GO) - Biological Process for C7orf43 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C7orf43 Gene

Drugs & Compounds for C7orf43 Gene

No Compound Related Data Available

Transcripts for C7orf43 Gene

mRNA/cDNA for C7orf43 Gene

Unigene Clusters for C7orf43 Gene

Chromosome 7 open reading frame 43:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C7orf43 Gene

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

Relevant External Links for C7orf43 Gene

GeneLoc Exon Structure for
C7orf43
ECgene alternative splicing isoforms for
C7orf43

Expression for C7orf43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C7orf43 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C7orf43 Gene

This gene is overexpressed in Whole Blood (x5.2).

Protein differential expression in normal tissues from HIPED for C7orf43 Gene

This gene is overexpressed in Cervix (45.9) and Peripheral blood mononuclear cells (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C7orf43 Gene



Protein tissue co-expression partners for C7orf43 Gene

NURSA nuclear receptor signaling pathways regulating expression of C7orf43 Gene:

C7orf43

SOURCE GeneReport for Unigene cluster for C7orf43 Gene:

Hs.533139

Evidence on tissue expression from TISSUES for C7orf43 Gene

  • Skin(4.3)
  • Nervous system(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with C7orf43: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C7orf43 Gene

Orthologs for C7orf43 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C7orf43 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C7ORF43 34
  • 100 (a)
OneToOne
C7H7orf43 33
  • 99.28 (n)
cow
(Bos Taurus)
Mammalia C7orf43 34
  • 98 (a)
OneToOne
C25H7orf43 33
  • 93.05 (n)
dog
(Canis familiaris)
Mammalia C7orf43 34
  • 97 (a)
OneToOne
C6H7orf43 33
  • 92.53 (n)
rat
(Rattus norvegicus)
Mammalia RGD1305455 33
  • 91.15 (n)
oppossum
(Monodelphis domestica)
Mammalia C7orf43 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia BC037034 16 34 34 33
  • 90.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C7orf43 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c7orf43 33
  • 66.67 (n)
Str.19426 33
zebrafish
(Danio rerio)
Actinopterygii LOC100003958 33
  • 65.12 (n)
C7H7orf43 34
  • 63 (a)
OneToOne
Species where no ortholog for C7orf43 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for C7orf43 Gene

ENSEMBL:
Gene Tree for C7orf43 (if available)
TreeFam:
Gene Tree for C7orf43 (if available)

Paralogs for C7orf43 Gene

No data available for Paralogs for C7orf43 Gene

Variants for C7orf43 Gene

Sequence variations from dbSNP and Humsavar for C7orf43 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000062003 -- 100,158,472(-) A/ coding_sequence_variant, frameshift, intron_variant
rs1000622990 -- 100,159,645(-) G/T upstream_transcript_variant
rs1001224117 -- 100,154,797(-) C/T 3_prime_UTR_variant
rs1001296171 -- 100,154,924(-) C/T 3_prime_UTR_variant
rs1002225274 -- 100,156,135(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C7orf43 Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV deletion 23290073
nsv428180 CNV gain 18775914
nsv469687 CNV loss 16826518
nsv607931 CNV loss 21841781

Variation tolerance for C7orf43 Gene

Residual Variation Intolerance Score: 15.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.17; 23.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C7orf43 Gene

Human Gene Mutation Database (HGMD)
C7orf43
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C7orf43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C7orf43 Gene

Disorders for C7orf43 Gene

Additional Disease Information for C7orf43

No disorders were found for C7orf43 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C7orf43 Gene

Publications for C7orf43 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 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
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  5. 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) 3 4 58

Products for C7orf43 Gene

Sources for C7orf43 Gene

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