Gene
COX7B
cytochrome c oxidase subunit 7B
- HGNC 2291↗(opens in a new tab)
- Ensembl gene ENSG00000131174↗(opens in a new tab)
- NCBI Gene 1349↗(opens in a new tab)
Summary
- Cytogenetic location
- Xq21.1
- Coordinates
- Chromosome X: 77,899,468–77,907,376 (GRCh38)
- Exons
- 3 exons across 7.9 kb
- Protein
- 80 amino acids
- MANE Select transcript
- ENST00000650309.2NM_001866.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Microphthalmia, Anophthalmia & Coloboma
- Syndromic Microphthalmia
Microphthalmia occurring with features outside the eye, caused by changes in genes such as SOX2, OTX2, BCOR, STRA6 and BMP4.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
A genetic diagnosis guides checks for associated features, such as pituitary hormone problems with SOX2 or OTX2, and informs recurrence risk.
How COX7B is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.4 kb of the gene's 7.9 kb; 243 of those bases code for the protein.
Genes linked to the same conditions
- BCORBCL6 corepressorShares 1 condition
- BMP4bone morphogenetic protein 4Shares 1 condition
- ERCC1ERCC excision repair 1, endonuclease non-catalytic subunitShares 1 condition
- ERCC2ERCC excision repair 2, TFIIH core complex helicase subunitShares 1 condition
- ERCC5ERCC excision repair 5, endonucleaseShares 1 condition
- FAT1FAT atypical cadherin 1Shares 1 condition
- HCCSholocytochrome c synthaseShares 1 condition
- HMX1H6 family homeobox 1Shares 1 condition
- MAB21L2mab-21 like 2Shares 1 condition
- NDUFB11NADH:ubiquinone oxidoreductase subunit B11Shares 1 condition
- OTX2orthodenticle homeobox 2Shares 1 condition
- RAB18RAB18, member RAS oncogene familyShares 1 condition
Traits linked to COX7B
The Human Phenotype Ontology lists these as features of the rare conditions COX7B can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Abnormally small eyeball
- Absence of eyeballs
- Corneal opacity
- Hardening of skin and connective tissue
- Abnormal retinal pigmentation
- Abnormal vitreous humor morphology
- Vitritis
- Wide-set eyes
Show 16 more traits
Abnormality of the cardiovascular system
- Redness of skin or mucous membrane
- Abnormal cardiac septum morphology
- Abnormal heart rate
- Enlarged and thickened heart muscle
- Stretched and thinned heart muscle
- An opening in the wall separating the top two chambers of the heart
- Increased blood pressure in blood vessels of lungs
- Junctional ectopic tachycardia
Abnormality of the genitourinary system
- Abnormal fallopian tube morphology
- Abnormality of the penis
- Abnormality of the testis
- Ambiguous external genitalia
- Enlarged clitoris
- Epispadias
- Hypospadias
- Male pseudohermaphroditism
Show 4 more traits
Abnormality of the integument
- Absence of part of skin at birth
- Asymmetric, linear skin defects
- Abnormal skin pigmentation
- Absent/small skin
- Patchy darkened skin
- Skin degeneration
- Patchy loss of skin color
- Abnormality of the nail
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). COX7B gene: cytochrome c oxidase subunit 7B. Retrieved 16 October 2026, from https://dantelabs.com/genes/cox7b
Dante Labs. COX7B gene: cytochrome c oxidase subunit 7B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cox7b
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