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Aliases for COX7B Gene

Aliases for COX7B Gene

  • Cytochrome C Oxidase Subunit 7B 2 3
  • Cytochrome C Oxidase Subunit VIIb 2 3 5
  • Cytochrome C Oxidase Polypeptide VIIb 3 4
  • Cytochrome-C Oxidase Chain VIIb 3
  • LSDMCA2 3
  • APLCC 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 7B) is a Protein Coding gene. Diseases associated with COX7B include linear skin defects with multiple congenital anomalies and linear skin defects with multiple congenital anomalies 1. Among its related pathways are Gene Expression 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

Promoters for COX7B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COX7B on UCSC Golden Path with GeneCards custom track

Genomic Location for COX7B Gene

Chromosome:
X
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

Genes around COX7B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX7B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 75
  • Modification sites at PhosphoSitePlus

Other Protein References for COX7B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COX7B Gene

Domains & Families for COX7B Gene

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

Human Phenotype Ontology for COX7B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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 5

Gene Ontology (GO) - Cellular Components for COX7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with COX7B: view

Pathways & Interactions 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:0006123 mitochondrial electron transport, cytochrome c to oxygen TAS --
GO:0022904 respiratory electron transport chain TAS --
GO:1902600 hydrogen ion transmembrane transport TAS 8382530
genes like me logo Genes that share ontologies with COX7B: view

No data available for SIGNOR curated interactions for COX7B Gene

Drugs & Compounds for COX7B Gene

(2) Drugs for COX7B Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholic acid Approved Pharma Full agonist, Agonist, Target 0
N-Formylmethionine Experimental Pharma Target 0

(2) Additional Compounds for COX7B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

Inhibitory RNA Products

Flow Cytometry Products

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 (x5.7).

Protein differential expression in normal tissues from HIPED for COX7B Gene

This gene is overexpressed in Nasal epithelium (30.2), Kidney (9.0), and Liver (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with COX7B: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia COX7B 35
  • 85.42 (n)
  • 78.75 (a)
-- 36
  • 75 (a)
ManyToMany
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
chimpanzee
(Pan troglodytes)
Mammalia COX7B 35
  • 99.17 (n)
  • 98.75 (a)
COX7B 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cox7b 35
  • 85.42 (n)
  • 80 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 42 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 69 (a)
OneToMany
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

(1) 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
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
rs34296412 -- 77,905,492(+) ATAGG(-/T)TTTTT downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv511668 CNV Loss 21212237

Variation tolerance for COX7B Gene

Residual Variation Intolerance Score: 59% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.04; 37.47% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(5) MalaCards diseases for COX7B Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
linear skin defects with multiple congenital anomalies
  • linear skin defects with multiple congenital anomalies 2
linear skin defects with multiple congenital anomalies 1
  • microphthalmia
sclerocornea
  • isolated congenital sclerocornea
aplasia cutis congenita
  • acc
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards
Search COX7B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COX7B_HUMAN
  • Linear skin defects with multiple congenital anomalies 2 (LSDMCA2) [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.

Relevant External Links for COX7B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COX7B
genes like me logo Genes that share disorders with COX7B: view

No data available for Genatlas for COX7B Gene

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 67
  2. The Protein Data Bank. (PMID: 10592235) Berman H.M. … Bourne P.E. (Nucleic Acids Res. 2000) 25 26
  3. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. (PMID: 25737280) Murn J. … Shi Y. (Genes Dev. 2015) 3
  4. Interleukin-24 mediates apoptosis in human B-cells through early activation of cell cycle arrest followed by late induction of the mitochondrial apoptosis pathway. (PMID: 22860893) Hadife N. … Dalloul A. (Leuk. Lymphoma 2013) 3
  5. HIV-1 Tat protein directly induces mitochondrial membrane permeabilization and inactivates cytochrome c oxidase. (PMID: 22419111) Lecoeur H. … Jacotot E. (Cell Death Dis 2012) 3

Products for COX7B Gene

Sources for COX7B Gene

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