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Aliases for COX7B Gene

Aliases for COX7B Gene

  • Cytochrome C Oxidase Subunit VIIb 2 3
  • Cytochrome C Oxidase Polypeptide VIIb 3 4
  • APLCC 3 6
  • Cytochrome C Oxidase Subunit 7B, Mitochondrial 3
  • Cytochrome-C Oxidase Chain VIIb 3

External Ids for COX7B Gene

Previous GeneCards Identifiers for COX7B Gene

  • GC0XP072700
  • GC0XP074116
  • GC0XP075196
  • GC0XP075910
  • GC0XP076961
  • GC0XP077041
  • GC0XP077154
  • GC0XP070740

Summaries for COX7B Gene

Entrez Gene Summary for COX7B Gene

  • Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011]

GeneCards Summary for COX7B Gene

COX7B (Cytochrome C Oxidase Subunit VIIb) is a Protein Coding gene. Diseases associated with COX7B include aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies and microphthalmia, syndromic 7. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX7B2.

UniProtKB/Swiss-Prot for COX7B Gene

  • This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. Plays a role in proper central nervous system (CNS) development in vertebrates.

Gene Wiki entry for COX7B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX7B Gene

Genomics for COX7B Gene

Regulatory Elements for COX7B Gene

Genomic Location for COX7B Gene

Start:
77,899,438 bp from pter
End:
77,907,373 bp from pter
Size:
7,936 bases
Orientation:
Plus strand

Genomic View for COX7B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COX7B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX7B Gene

Proteins for COX7B Gene

  • Protein details for COX7B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24311-COX7B_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 7B, mitochondrial
    Protein Accession:
    P24311
    Secondary Accessions:
    • B2R4M3
    • Q6ICR1

    Protein attributes for COX7B Gene

    Size:
    80 amino acids
    Molecular mass:
    9161 Da
    Quaternary structure:
    No Data Available

neXtProt entry for COX7B Gene

Proteomics data for COX7B Gene at MOPED

Post-translational modifications for COX7B Gene

  • Ubiquitination at Lys75
  • Modification sites at PhosphoSitePlus

Other Protein References for COX7B Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for COX7B Gene

Domains for COX7B Gene

Gene Families for COX7B Gene

HGNC:
  • comIV :Mitochondrial respiratory chain complex / Complex IV

Protein Domains for COX7B Gene

Suggested Antigen Peptide Sequences for COX7B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P24311

UniProtKB/Swiss-Prot:

COX7B_HUMAN :
  • P24311
Family:
  • Belongs to the cytochrome c oxidase VIIb family.
genes like me logo Genes that share domains with COX7B: view

Function for COX7B Gene

Molecular function for COX7B Gene

UniProtKB/Swiss-Prot Function: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. Plays a role in proper central nervous system (CNS) development in vertebrates.

Gene Ontology (GO) - Molecular Function for COX7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity IEA --
genes like me logo Genes that share ontologies with COX7B: view

Phenotypes for COX7B Gene

MGI mutant phenotypes for COX7B:
inferred from 1 alleles
GenomeRNAi human phenotypes for COX7B:
genes like me logo Genes that share phenotypes with COX7B: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for COX7B Gene

Localization for COX7B Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX7B Gene

Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COX7B Gene COMPARTMENTS Subcellular localization image for COX7B gene
Compartment Confidence
mitochondrion 4

Gene Ontology (GO) - Cellular Components for COX7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane TAS --
GO:0005746 mitochondrial respiratory chain IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with COX7B: view

Pathways for COX7B Gene

genes like me logo Genes that share pathways with COX7B: view

Interacting Proteins for COX7B Gene

Gene Ontology (GO) - Biological Process for COX7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007417 central nervous system development IMP 23122588
GO:0010467 gene expression TAS --
GO:0022904 respiratory electron transport chain TAS --
GO:0044237 cellular metabolic process TAS --
genes like me logo Genes that share ontologies with COX7B: view

Compounds for COX7B Gene

(2) HMDB Compounds for COX7B Gene

Compound Synonyms Cas Number PubMed IDs
Oxygen
  • Oxygen
7782-44-7
Water
  • Dihydrogen oxide
7732-18-5

(2) Drugbank Compounds for COX7B Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cholic Acid
81-25-4 target
N-Formylmethionine
target
genes like me logo Genes that share compounds with COX7B: view

Transcripts for COX7B Gene

mRNA/cDNA for COX7B Gene

Unigene Clusters for COX7B Gene

Cytochrome c oxidase subunit VIIb:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COX7B Gene

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

Relevant External Links for COX7B Gene

GeneLoc Exon Structure for
COX7B
ECgene alternative splicing isoforms for
COX7B

Expression for COX7B Gene

mRNA expression in normal human tissues for COX7B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COX7B Gene

This gene is overexpressed in Heart - Left Ventricle (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for COX7B Gene

SOURCE GeneReport for Unigene cluster for COX7B Gene Hs.522699

genes like me logo Genes that share expressions with COX7B: view

No data available for mRNA Expression by UniProt/SwissProt for COX7B Gene

Orthologs for COX7B Gene

This gene was present in the common ancestor of chordates.

Orthologs for COX7B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COX7B 35
  • 99.17 (n)
  • 98.75 (a)
COX7B 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 75 (a)
ManyToMany
COX7B 35
  • 85.42 (n)
  • 78.75 (a)
COX7B 36
  • 74 (a)
ManyToMany
COX7B 36
  • 74 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Cox7b 35
  • 85 (n)
  • 78.75 (a)
Cox7b 16
Cox7b 36
  • 79 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 42 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 69 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cox7b 35
  • 85.42 (n)
  • 80 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cox7b 35
  • 60.34 (n)
  • 64.56 (a)
Species with no ortholog for COX7B:
  • 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)
  • dog (Canis familiaris)
  • 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)
  • zebrafish (Danio rerio)

Evolution for COX7B Gene

ENSEMBL:
Gene Tree for COX7B (if available)
TreeFam:
Gene Tree for COX7B (if available)

Paralogs for COX7B Gene

Paralogs for COX7B Gene

Selected SIMAP similar genes for COX7B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with COX7B: view

Variants for COX7B Gene

Sequence variations from dbSNP and Humsavar for COX7B Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs3190122 -- 77,905,327(+) AAAGC(A/C)CTGTG utr-variant-3-prime
rs5912528 -- 77,905,778(+) CTTCC(A/G)AGTAG downstream-variant-500B
rs5959897 -- 77,898,821(+) gcgcg(C/T)gccac upstream-variant-2KB
rs11552077 -- 77,899,533(+) GCCGC(A/G)GTTCT utr-variant-5-prime
rs11552079 -- 77,899,495(+) ACCTG(G/T)AAGCG utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for COX7B Gene

Variant ID Type Subtype PubMed ID
nsv511668 CNV Loss 21212237

Relevant External Links for COX7B Gene

HapMap Linkage Disequilibrium report
COX7B
Human Gene Mutation Database (HGMD)
COX7B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX7B Gene

Disorders for COX7B Gene

(1) OMIM Diseases for COX7B Gene (300885)

UniProtKB/Swiss-Prot

COX7B_HUMAN
  • Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies (APLCC) [MIM:300887]: A distinct form of aplasia cutis congenita presenting as multiple linear skin defects on the face and neck associated with poor growth, microcephaly, and facial dysmorphism. Additional features include intellectual disability, nail dystrophy, short stature and cardiac abnormalities. {ECO:0000269 PubMed:23122588}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with COX7B: view

Publications for COX7B Gene

  1. Isolation of a cDNA specifying subunit VIIb of human cytochrome c oxidase. (PMID: 8382530) Sadlock J.E. … Schon E.A. (Biochim. Biophys. Acta 1993) 2 3 4
  2. Subunits VIIa,b,c of human cytochrome c oxidase. Identification of both 'heart-type' and 'liver-type' isoforms of subunit VIIa in human heart. (PMID: 1309697) van Kuilenburg A.B.P. … Muijsers A.O. (Eur. J. Biochem. 1992) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4
  5. Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. (PMID: 23122588) Indrieri A. … Franco B. (Am. J. Hum. Genet. 2012) 3 4

Products for COX7B Gene

Sources for COX7B Gene

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