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Aliases for COX7B Gene

Aliases for COX7B Gene

  • Cytochrome C Oxidase Subunit 7B 2 3 5
  • Cytochrome C Oxidase Polypeptide VIIb 3 4
  • Cytochrome C Oxidase Subunit VIIb 2 3
  • Cytochrome C Oxidase Subunit 7B, Mitochondrial 3
  • 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 2 and Linear Skin Defects With Multiple Congenital Anomalies 1. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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

Additional gene information for COX7B Gene

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

Genomics for COX7B Gene

Regulatory Elements for COX7B Gene

Enhancers for COX7B 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
GH0XH077898 1 ENCODE 0.7 +0.6 551 2 PKNOX1 ATF1 ARID4B SIN3A ZNF2 BRCA1 YY1 ETS1 GTF3C2 ELK1 TAF9B COX7B GC0XP077906
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COX7B on UCSC Golden Path with GeneCards custom track

Promoters for COX7B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000247327 663 2600 PKNOX1 ATF1 ARID4B SIN3A ZNF2 BRCA1 YY1 ETS1 GTF3C2 ELK1

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

Post-translational modifications for COX7B Gene

  • Ubiquitination at isoforms=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

Gene Families for COX7B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

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.

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
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COX7B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 COX7B gene
Compartment Confidence
mitochondrion 5

Gene Ontology (GO) - Cellular Components for COX7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005746 mitochondrial respiratory chain IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with COX7B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COX7B Gene

Pathways & Interactions for COX7B Gene

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

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:0007417 central nervous system development IMP 23122588
GO:1902600 hydrogen ion transmembrane transport IEA --
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

(4) 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
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
N-Formylmethionine Experimental Pharma Target 0
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COX7B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of COX7B Gene:

COX7B

SOURCE GeneReport for Unigene cluster for COX7B Gene:

Hs.522699

Evidence on tissue expression from TISSUES for COX7B Gene

  • Heart(4.5)
  • Liver(3.8)
  • Nervous system(2.7)
  • Muscle(2.5)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COX7B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lacrimal apparatus
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • scalp
  • skull
Thorax:
  • aorta
  • chest wall
  • diaphragm
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • anus
  • ovary
  • penis
  • rectum
  • testicle
  • urethra
  • uterus
  • vagina
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with COX7B: view

Primer Products

No data available for Protein tissue co-expression partners and 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 33 34
  • 99.17 (n)
cow
(Bos Taurus)
Mammalia COX7B 33 34 34
  • 85.42 (n)
-- 34
  • 75 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Cox7b 33
  • 85.42 (n)
mouse
(Mus musculus)
Mammalia Cox7b 33 16 34
  • 85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 69 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 42 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cox7b 33
  • 60.34 (n)
Species where no ortholog for COX7B 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)
  • 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
rs397514583 Pathogenic 77,905,214(+) GGAAC(-/C)TGTCC reference, frameshift-variant
rs397514584 Pathogenic 77,902,641(+) CTGTA(A/G)GTTCG splice-acceptor-variant
rs397514585 Pathogenic 77,902,657(+) TTCAG(C/T)AAACA reference, stop-gained
rs1000220144 -- 77,903,384(+) AGACG(A/G)GGTTT intron-variant
rs1000572276 -- 77,902,913(+) CAGGG(C/G)ATTTT intron-variant

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

Human Gene Mutation Database (HGMD)
COX7B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
linear skin defects with multiple congenital anomalies 2
  • aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies
linear skin defects with multiple congenital anomalies 1
  • microphthalmia with linear skin defects syndrome
sclerocornea
  • isolated congenital sclerocornea
aplasia cutis congenita
  • aplasia cutis congenita nonsyndromic
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 JE … Schon EA (Biochimica et biophysica acta 1993) 2 3 4 60
  2. Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. (PMID: 23122588) Indrieri A … Franco B (American journal of human genetics 2012) 3 4 60
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 60
  4. 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 60
  5. 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 AB … Muijsers AO (European journal of biochemistry 1992) 3 4 60

Products for COX7B Gene

Sources for COX7B Gene

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