COX4I2 - cytochrome c oxidase subunit 4I2 Gene

Also Known as COX4; COX4B; COX4-2; COX4L2; COXIV-2; dJ857M17.2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84701

About COX4I2

Cytogenetic location: 20q11.21 Genomic coordinates (GRCh38): 20:31,637,912-31,645,006 (from NCBI)

This gene has 2 transcripts (splice variants), 184 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in placenta (RPKM 32.5), lung (RPKM 10.0) and 6 other tissues.

Summary

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It 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 be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]

COX4I2 Products (1)

mRNA Protein Name
NM_032609.3 NP_115998.2 cytochrome c oxidase subunit 4 isoform 2, mitochondrial

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Verweise Source
enables cytochrome-c oxidase activity IDA
IDA: Inferred from direct assay
11311561 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in mitochondrial electron transport, cytochrome c to oxygen IDA
IDA: Inferred from direct assay
11311561 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COX4I2 Protein Structure

COX4

COX4: Cytochrome c oxidase subunit IV (46 - 170)

  • 0
  • 100
  • 171 a.a.
Protein Preferred Names Protein Names

cytochrome c oxidase subunit 4 isoform 2, mitochondrial

  • COX IV-2

COX4I2 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P85423 COX4I2 Antibody (YA5115) WB, IHC-P, ICC/IF, IP, FC, ELISA, IF-Tissue Human

Related Diseases

Diseases Alias
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis

  • Pancreatic Insufficiency-Anemia-Hyperostosis Syndrome

  • Exocrine Pancreatic Insufficiency Dyserythropoietic Anemia And Calvarial Hyperostosis

  • EPIDACH
Calvarial Hyperostosis

  • Isolated Hyperostosis Of The Calvarium

  • X-Linked Calvarial Hyperostosis
Exocrine Pancreatic Insufficiency
Hyperostosis

  • Hypertrophy Of Bone

  • Bone Hypertrophy

  • Bone Thickening

  • Periosteum Thickening
Pheochromocytoma

  • Pheochromocytoma, Susceptibility To

  • Phaeochromocytoma

  • Adrenal Gland Chromaffin Paraganglioma

  • Adrenal Gland Chromaffinoma

  • Adrenal Gland Paraganglioma

  • Adrenal Gland Pheochromocytoma

  • Chromaffin Paraganglioma Of The Adrenal Gland

  • Intraadrenal Paraganglioma

  • PCC

  • Chromaffin Cell Tumor

  • Medullary Chromaffinoma

  • Medullary Paraganglioma

  • Pheochromoblastoma

  • Pheochromocytomas

  • Chromaffin Cell Neoplasm

  • Pheochromocytoma, Malignant
Hermansky-Pudlak Syndrome 1

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

  • HPS1

  • Delta Storage Pool Disease

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

  • Hermansky-Pudlak Syndrome, Type 1

  • Platelet Storage Pool Deficiency
Leigh Syndrome

  • Leigh Disease

  • Infantile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

  • LS

  • Sne

  • Leigh'S Disease

  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency

  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

  • Subacute Necrotizing Encephalomyelopathy

  • Necrotizing Encephalopathy Infantile Subacute Of Leigh

  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

  • Infantile Necrotizing Encephalomyelopathy

  • Juvenile Subacute Necrotizing Encephalomyelopathy

  • Leigh'S Necrotizing Encephalopathy

  • Subacute Necrotizing Encephalopathy

  • Juvenile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency

  • Encephalopathy, Subacute Necrotizing, Infantile

  • Encephalopathy, Subacute Necrotizing, Juvenile

  • Maternally Inherited Leigh Syndrome

  • Subacute Necrotising Encephalomyelopathy

  • Subacute Necrotising Encephalopathy
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Melas Syndrome

  • MELAS

  • Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

  • Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

  • Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

  • Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

  • Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

  • Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS03065 COX4I2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19057 Cox4i2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25547 Cox4i2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris COX4I2 VGNC VGNC:54289
Felis catus COX4I2 VGNC VGNC:61108
Rattus norvegicus COX4I2 RGD RGD:69422
Bos taurus COX4I2 VGNC VGNC:27635
Mus musculus COX4I2 MGD MGI:2135755
Macaca mulatta COX4I2 VGNC VGNC:107782
Others COX4I2 NCBI