Hmdb loader
Identification
HMDB Protein ID HMDBP07045
Secondary Accession Numbers
  • 12664
Name Cytochrome c oxidase subunit 4 isoform 2, mitochondrial
Synonyms
  1. COX IV-2
  2. Cytochrome c oxidase subunit IV isoform 2
Gene Name COX4I2
Protein Type Enzyme
Biological Properties
General Function Involved in cytochrome-c oxidase activity
Specific Function This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport
Pathways Not Available
Reactions Not Available
GO Classification
Function
catalytic activity
oxidoreductase activity
heme-copper terminal oxidase activity
cytochrome-c oxidase activity
Cellular Location
  1. Mitochondrion inner membrane
Gene Properties
Chromosome Location Chromosome:2
Locus 20q11.21
SNPs COX4I2
Gene Sequence
>516 bp
ATGCTCCCCAGAGCTGCCTGGAGCTTGGTGCTGAGGAAAGGTGGAGGTGGAAGACGAGGG
ATGCACAGCTCAGAAGGCACCACCCGTGGTGGGGGGAAGATGTCCCCCTACACCAACTGC
TATGCCCAGCGCTACTACCCCATGCCAGAAGAGCCCTTCTGCACAGAACTCAACGCTGAG
GAGCAGGCCCTGAAGGAGAAGGAGAAGGGAAGCTGGACCCAGCTGACCCACGCCGAAAAG
GTGGCCTTGTACCGGCTCCAGTTCAATGAGACCTTTGCGGAGATGAACCGTCGCTCCAAT
GAGTGGAAGACAGTGATGGGTTGTGTCTTCTTCTTCATTGGATTCGCAGCTCTGGTGATT
TGGTGGCAGCGGGTCTACGTATTTCCTCCAAAGCCGATCACCTTGACGGACGAGCGGAAA
GCCCAGCAGCTGCAGCGCATGCTGGACATGAAGGTGAATCCTGTGCAGGGCCTGGCCTCC
CACTGGGACTATGAGAAGAAGCAGTGGAAGAAGTGA
Protein Properties
Number of Residues 171
Molecular Weight 20010.0
Theoretical pI 10.13
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Cytochrome c oxidase subunit 4 isoform 2, mitochondrial
MLPRAAWSLVLRKGGGGRRGMHSSEGTTRGGGKMSPYTNCYAQRYYPMPEEPFCTELNAE
EQALKEKEKGSWTQLTHAEKVALYRLQFNETFAEMNRRSNEWKTVMGCVFFFIGFAALVI
WWQRVYVFPPKPITLTDERKAQQLQRMLDMKVNPVQGLASRWDYEKKQWKK
GenBank ID Protein 13925310
UniProtKB/Swiss-Prot ID Q96KJ9
UniProtKB/Swiss-Prot Entry Name COX42_HUMAN
PDB IDs Not Available
GenBank Gene ID AF257180
GeneCard ID COX4I2
GenAtlas ID COX4I2
HGNC ID HGNC:16232
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M, Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE, Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C, Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A, Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA, Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S, Rogers J: The DNA sequence and comparative analysis of human chromosome 20. Nature. 2001 Dec 20-27;414(6866):865-71. [PubMed:11780052 ]
  3. Huttemann M, Kadenbach B, Grossman LI: Mammalian subunit IV isoforms of cytochrome c oxidase. Gene. 2001 Apr 4;267(1):111-23. [PubMed:11311561 ]
  4. Shteyer E, Saada A, Shaag A, Al-Hijawi FA, Kidess R, Revel-Vilk S, Elpeleg O: Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. Am J Hum Genet. 2009 Mar;84(3):412-7. doi: 10.1016/j.ajhg.2009.02.006. Epub 2009 Mar 5. [PubMed:19268275 ]