full name
cytochrome c oxidase subunit 4I2

synonyms
COX4, COX4-2, COX4B, COX4L2, COXIV-2, dJ857M17.2, COX4I2, ENSG00000131055

HGNC
HGNC:16232

Entrez Gene
Gene:84701

ENSEMBL
ENSG00000131055

location
chr: 20
start: 30225685
stop: 30232837
strand: +

OMIM
OMIM:607976: COX4I2 (Autosomal recessive inheritance)
OMIM:612714: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis

transcripts
NM_032609.2

pathways
Alzheimer's disease [NCBI:83097] [KEGG:hsa05010] [PUBMED:18782350] [PUBMED:18035450] [PUBMED:15177383] [PUBMED:10527810] [PUBMED:15363492] [PUBMED:16677790] [PUBMED:15295589] [PUBMED:17055782] [PUBMED:15864339] [PUBMED:15750290] [PUBMED:18675468] [PUBMED:15232608] [PUBMED:9848086] [PUBMED:11484003] [PUBMED:10830966] [PUBMED:16529745] [PUBMED:17568632]
Cardiac muscle contraction [NCBI:93344] [KEGG:hsa04260] [PUBMED:16799263] [PUBMED:18981594] [PUBMED:12763850] [PUBMED:16096350] [PUBMED:16552170] [PUBMED:15736582] [PUBMED:14659803] [PUBMED:17988210] [PUBMED:11805843] [PUBMED:10747208] [PUBMED:16701909] [PUBMED:11294886]
Huntington's disease [NCBI:83100] [KEGG:hsa05016] [PUBMED:15336977] [PUBMED:11738471] [PUBMED:11807533] [PUBMED:15996546] [PUBMED:14526190] [PUBMED:15242639] [PUBMED:17041811] [PUBMED:15996541] [PUBMED:18951640] [PUBMED:15459747] [PUBMED:16288298] [PUBMED:17081970] [PUBMED:15695335] [PUBMED:12372277] [PUBMED:11839795]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Non-alcoholic fatty liver disease (NAFLD) [NCBI:862188] [KEGG:hsa04932] [PUBMED:21038418] [PUBMED:17498512] [PUBMED:19352614] [PUBMED:23299992] [PUBMED:22570745] [PUBMED:9285483] [PUBMED:12891546] [PUBMED:18061659] [PUBMED:22705006] [PUBMED:16364488] [PUBMED:18242193] [PUBMED:16374858] [PUBMED:22940046] [PUBMED:20619513] [PUBMED:20303879] [PUBMED:14685853] [PUBMED:16406828] [PUBMED:23545492] [PUBMED:21145844]
Oxidative phosphorylation [NCBI:82942] [KEGG:hsa00190] [PUBMED:16584177] [PUBMED:16469879]
Parkinson's disease [NCBI:83098] [KEGG:hsa05012] [PUBMED:15767499] [PUBMED:12461550] [PUBMED:21811441] [PUBMED:17911161] [PUBMED:15525720] [PUBMED:16022590] [PUBMED:12971891] [PUBMED:15681812] [PUBMED:16495942] [PUBMED:11331916] [PUBMED:18426756] [PUBMED:16278972] [PUBMED:18680555] [PUBMED:12938733] [PUBMED:15770999] [PUBMED:12728264] [PUBMED:15054086] [PUBMED:20236221] [PUBMED:22927178]