COX4I2 (cytochrome c oxidase subunit 4I2) - Rat Genome Database

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Gene: COX4I2 (cytochrome c oxidase subunit 4I2) Homo sapiens
Analyze
Symbol: COX4I2
Name: cytochrome c oxidase subunit 4I2
RGD ID: 735839
HGNC Page HGNC:16232
Description: Enables cytochrome-c oxidase activity. Involved in mitochondrial electron transport, cytochrome c to oxygen. Predicted to be located in mitochondrial inner membrane. Predicted to be part of mitochondrial respiratory chain complex IV.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: COX IV-2; COX4; COX4-2; COX4B; COX4L2; COXIV-2; cytochrome c oxidase subunit 4 isoform 2, mitochondrial; cytochrome c oxidase subunit IV isoform 2 (lung); cytochrome c oxidase subunit IV-like 2; dJ857M17.2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382031,637,912 - 31,645,006 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2031,637,912 - 31,645,006 (+)EnsemblGRCh38hg38GRCh38
GRCh372030,225,715 - 30,232,809 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362029,689,352 - 29,696,461 (+)NCBINCBI36Build 36hg18NCBI36
Build 342029,689,351 - 29,696,461NCBI
Celera2026,982,036 - 26,989,145 (+)NCBICelera
Cytogenetic Map20q11.21NCBI
HuRef2027,014,417 - 27,021,500 (+)NCBIHuRef
CHM1_12030,129,576 - 30,136,686 (+)NCBICHM1_1
T2T-CHM13v2.02033,362,179 - 33,369,276 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mammalian subunit IV isoforms of cytochrome c oxidase. Huttemann M, etal., Gene 2001 Apr 4;267(1):111-23.
3. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. Undernutrition during suckling in rats elevates plasma adiponectin and its receptor in skeletal muscle regardless of diet composition: a protective effect? Prior LJ, etal., Int J Obes (Lond). 2008 Aug 26.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. Shteyer E, etal., Am J Hum Genet. 2009 Mar;84(3):412-7. doi: 10.1016/j.ajhg.2009.02.006. Epub 2009 Mar 5.
11. Cytochrome c oxidase isoform IV-2 is involved in 3-nitropropionic acid-induced toxicity in striatal astrocytes. Singh S, etal., Glia. 2009 Nov 1;57(14):1480-91. doi: 10.1002/glia.20864.
Additional References at PubMed
PMID:1309738   PMID:2153405   PMID:2986725   PMID:6088481   PMID:6246917   PMID:8765469   PMID:10683230   PMID:11737208   PMID:11780052   PMID:11911854   PMID:12477932   PMID:15489334  
PMID:17418790   PMID:17937768   PMID:19064571   PMID:19490893   PMID:20877624   PMID:21832049   PMID:21873635   PMID:23303788   PMID:23362268   PMID:30021884   PMID:31106414   PMID:33672589  
PMID:33961781   PMID:36064310   PMID:38422899  


Genomics

Comparative Map Data
COX4I2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382031,637,912 - 31,645,006 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2031,637,912 - 31,645,006 (+)EnsemblGRCh38hg38GRCh38
GRCh372030,225,715 - 30,232,809 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362029,689,352 - 29,696,461 (+)NCBINCBI36Build 36hg18NCBI36
Build 342029,689,351 - 29,696,461NCBI
Celera2026,982,036 - 26,989,145 (+)NCBICelera
Cytogenetic Map20q11.21NCBI
HuRef2027,014,417 - 27,021,500 (+)NCBIHuRef
CHM1_12030,129,576 - 30,136,686 (+)NCBICHM1_1
T2T-CHM13v2.02033,362,179 - 33,369,276 (+)NCBIT2T-CHM13v2.0
Cox4i2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392152,596,093 - 152,606,957 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2152,596,093 - 152,606,957 (+)EnsemblGRCm39 Ensembl
GRCm382152,753,916 - 152,765,039 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2152,754,173 - 152,765,037 (+)EnsemblGRCm38mm10GRCm38
MGSCv372152,579,909 - 152,590,773 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362152,445,614 - 152,456,478 (+)NCBIMGSCv36mm8
Celera2158,570,176 - 158,581,023 (+)NCBICelera
Cytogenetic Map2H1NCBI
cM Map275.41NCBI
Cox4i2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83161,686,193 - 161,699,605 (+)NCBIGRCr8
mRatBN7.23141,228,443 - 141,239,337 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3141,228,443 - 141,239,331 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3145,133,387 - 145,144,280 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03153,717,214 - 153,728,105 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03151,456,966 - 151,467,861 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03148,234,546 - 148,245,424 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3148,234,193 - 148,245,416 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03154,637,397 - 154,648,541 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43143,103,348 - 143,114,236 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13143,008,969 - 143,019,858 (+)NCBI
Celera3139,977,862 - 139,988,751 (+)NCBICelera
Cytogenetic Map3q41NCBI
LOC102018506
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542229,320,720 - 29,329,127 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542229,320,720 - 29,329,082 (-)NCBIChiLan1.0ChiLan1.0
LOC100980404
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22137,324,893 - 37,338,299 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12037,318,011 - 37,331,411 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02027,927,883 - 27,935,305 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12029,060,321 - 29,067,448 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2029,061,447 - 29,067,440 (+)Ensemblpanpan1.1panPan2
COX4I2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12421,122,033 - 21,128,368 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2421,120,213 - 21,128,320 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2420,769,248 - 20,775,512 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02421,808,912 - 21,815,215 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2421,809,986 - 21,815,167 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12421,086,709 - 21,092,973 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02421,191,943 - 21,198,224 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02421,622,189 - 21,628,661 (+)NCBIUU_Cfam_GSD_1.0
LOC101956526
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640170,200,494 - 170,207,563 (+)NCBIHiC_Itri_2
SpeTri2.0NW_00493648518,631,826 - 18,637,675 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COX4I2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1735,341,889 - 35,346,090 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11735,340,499 - 35,346,090 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
COX4I2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1236,031,595 - 36,041,419 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl236,032,458 - 36,041,504 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605090,877,032 - 90,886,826 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101714003
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624741850,551 - 861,313 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624741852,104 - 863,660 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COX4I2
55 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_032609.3(COX4I2):c.412G>A (p.Glu138Lys) single nucleotide variant Pancreatic insufficiency-anemia-hyperostosis syndrome [RCV000002774]|not provided [RCV000284879] Chr20:31644800 [GRCh38]
Chr20:30232603 [GRCh37]
Chr20:20q11.21		 pathogenic|uncertain significance
GRCh38/hg38 20q11.21(chr20:31289875-32302312)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052792]|See cases [RCV000052792] Chr20:31289875..32302312 [GRCh38]
Chr20:29877678..30890115 [GRCh37]
Chr20:29341339..30353776 [NCBI36]
Chr20:20q11.21		 uncertain significance
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12		 pathogenic
GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3 copy number gain See cases [RCV000134504] Chr20:31254983..32575288 [GRCh38]
Chr20:29842786..31163090 [GRCh37]
Chr20:29306447..30626751 [NCBI36]
Chr20:20q11.21		 pathogenic
GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3 copy number gain See cases [RCV000135358] Chr20:31254983..33473080 [GRCh38]
Chr20:29842786..32060886 [GRCh37]
Chr20:29306447..31524547 [NCBI36]
Chr20:20q11.21		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4 copy number gain See cases [RCV000138183] Chr20:31245583..32017285 [GRCh38]
Chr20:29833386..30605088 [GRCh37]
Chr20:29297047..30068749 [NCBI36]
Chr20:20q11.21		 likely pathogenic
GRCh38/hg38 20q11.21(chr20:31254983-31660401)x3 copy number gain See cases [RCV000141034] Chr20:31254983..31660401 [GRCh38]
Chr20:29842786..30248204 [GRCh37]
Chr20:29306447..29711865 [NCBI36]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.253C>T (p.Arg85Trp) single nucleotide variant not provided [RCV000178376] Chr20:31643409 [GRCh38]
Chr20:30231212 [GRCh37]
Chr20:20q11.21		 uncertain significance
GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3 copy number gain See cases [RCV000240436] Chr20:17705775..31600738 [GRCh37]
Chr20:20p12.1-q11.21		 pathogenic
NM_032609.3(COX4I2):c.345C>T (p.Phe115=) single nucleotide variant COX4I2-related condition [RCV003959752] Chr20:31643501 [GRCh38]
Chr20:30231304 [GRCh37]
Chr20:20q11.21		 likely benign|uncertain significance
NM_032609.3(COX4I2):c.396G>A (p.Pro132=) single nucleotide variant not provided [RCV003575390] Chr20:31644784 [GRCh38]
Chr20:30232587 [GRCh37]
Chr20:20q11.21		 likely benign|uncertain significance
NM_032609.3(COX4I2):c.430C>G (p.Leu144Val) single nucleotide variant Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [RCV000276238] Chr20:31644818 [GRCh38]
Chr20:30232621 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.482G>A (p.Arg161His) single nucleotide variant not provided [RCV000677057]|not specified [RCV000443620] Chr20:31644870 [GRCh38]
Chr20:30232673 [GRCh37]
Chr20:20q11.21		 benign|likely benign
NM_032609.3(COX4I2):c.167A>C (p.Glu56Ala) single nucleotide variant Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [RCV000355531] Chr20:31640017 [GRCh38]
Chr20:30227820 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.1-6C>T single nucleotide variant not provided [RCV000997763] Chr20:31639012 [GRCh38]
Chr20:30226815 [GRCh37]
Chr20:20q11.21		 likely benign|uncertain significance
NM_032609.3(COX4I2):c.231C>T (p.His77=) single nucleotide variant not provided [RCV002948164] Chr20:31640081 [GRCh38]
Chr20:30227884 [GRCh37]
Chr20:20q11.21		 likely benign|uncertain significance
NM_032609.2(COX4I2):c.-70C>T single nucleotide variant Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [RCV000340495] Chr20:31637893 [GRCh38]
Chr20:30225696 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.463G>C (p.Val155Leu) single nucleotide variant Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [RCV000331351] Chr20:31644851 [GRCh38]
Chr20:30232654 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.83-8_83-7del microsatellite Pancreatic insufficiency-anemia-hyperostosis syndrome [RCV000300678]|not provided [RCV001725170] Chr20:31639922..31639923 [GRCh38]
Chr20:30227725..30227726 [GRCh37]
Chr20:20q11.21		 benign|likely benign|uncertain significance
NM_032609.3(COX4I2):c.114C>T (p.Thr38=) single nucleotide variant COX4I2-related condition [RCV003962748]|not provided [RCV002529375]|not specified [RCV000606008] Chr20:31639964 [GRCh38]
Chr20:30227767 [GRCh37]
Chr20:20q11.21		 likely benign
NM_032609.3(COX4I2):c.234C>T (p.Ala78=) single nucleotide variant not specified [RCV000426864] Chr20:31640084 [GRCh38]
Chr20:30227887 [GRCh37]
Chr20:20q11.21		 likely benign
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)x3 copy number gain See cases [RCV000448977] Chr20:24162775..31820857 [GRCh37]
Chr20:20p11.21-q11.21		 likely pathogenic
GRCh37/hg19 20q11.21(chr20:29877878-30231917)x3 copy number gain See cases [RCV000448484] Chr20:29877878..30231917 [GRCh37]
Chr20:20q11.21		 likely benign
GRCh37/hg19 20q11.21(chr20:29833535-30599771)x3 copy number gain See cases [RCV000511585] Chr20:29833535..30599771 [GRCh37]
Chr20:20q11.21		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q11.21(chr20:29425357-30226690)x3 copy number gain See cases [RCV000515558] Chr20:29425357..30226690 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.91G>A (p.Gly31Arg) single nucleotide variant Inborn genetic diseases [RCV003251356]|not provided [RCV003779875] Chr20:31639941 [GRCh38]
Chr20:30227744 [GRCh37]
Chr20:20q11.21		 uncertain significance
GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3 copy number gain See cases [RCV000512500] Chr20:24876569..30494851 [GRCh37]
Chr20:20p11.21-q11.21		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
Single allele duplication not provided [RCV000677978] Chr20:17705775..31600738 [GRCh37]
Chr20:20p12.1-q11.21		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_032609.3(COX4I2):c.380-67G>A single nucleotide variant not provided [RCV001681278] Chr20:31644701 [GRCh38]
Chr20:30232504 [GRCh37]
Chr20:20q11.21		 benign
NM_032609.3(COX4I2):c.88G>C (p.Gly30Arg) single nucleotide variant Pancreatic insufficiency-anemia-hyperostosis syndrome [RCV003103834]|not provided [RCV000755987] Chr20:31639938 [GRCh38]
Chr20:30227741 [GRCh37]
Chr20:20q11.21		 benign|likely benign
NM_032609.3(COX4I2):c.83-10G>T single nucleotide variant not provided [RCV000827613] Chr20:31639923 [GRCh38]
Chr20:30227726 [GRCh37]
Chr20:20q11.21		 benign
NM_032609.3(COX4I2):c.-40G>A single nucleotide variant not provided [RCV000841904] Chr20:31637923 [GRCh38]
Chr20:30225726 [GRCh37]
Chr20:20q11.21		 likely benign
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3 copy number gain not provided [RCV000849735] Chr20:29833608..35087952 [GRCh37]
Chr20:20q11.21-11.23		 pathogenic
GRCh37/hg19 20q11.21(chr20:29835457-30232565)x3 copy number gain not provided [RCV000849469] Chr20:29835457..30232565 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.1-278C>G single nucleotide variant not provided [RCV001671124] Chr20:31638740 [GRCh38]
Chr20:30226543 [GRCh37]
Chr20:20q11.21		 benign
NM_032609.3(COX4I2):c.247+257G>A single nucleotide variant not provided [RCV001541006] Chr20:31640354 [GRCh38]
Chr20:30228157 [GRCh37]
Chr20:20q11.21		 benign
NM_032609.3(COX4I2):c.380-119C>T single nucleotide variant not provided [RCV001657369] Chr20:31644649 [GRCh38]
Chr20:30232452 [GRCh37]
Chr20:20q11.21		 benign
NC_000020.11:g.31645101T>G single nucleotide variant not provided [RCV001655276] Chr20:31645101 [GRCh38]
Chr20:30232904 [GRCh37]
Chr20:20q11.21		 benign
NM_032609.3(COX4I2):c.1-131G>A single nucleotide variant not provided [RCV001677610] Chr20:31638887 [GRCh38]
Chr20:30226690 [GRCh37]
Chr20:20q11.21		 benign
NM_032609.3(COX4I2):c.380-282T>C single nucleotide variant not provided [RCV001682545] Chr20:31644486 [GRCh38]
Chr20:30232289 [GRCh37]
Chr20:20q11.21		 benign
NM_032609.3(COX4I2):c.379+299T>C single nucleotide variant not provided [RCV001684351] Chr20:31643834 [GRCh38]
Chr20:30231637 [GRCh37]
Chr20:20q11.21		 benign
NM_032609.3(COX4I2):c.83-97A>G single nucleotide variant not provided [RCV001609739] Chr20:31639836 [GRCh38]
Chr20:30227639 [GRCh37]
Chr20:20q11.21		 benign
NM_032609.3(COX4I2):c.-1+27C>T single nucleotide variant not provided [RCV001613569] Chr20:31637989 [GRCh38]
Chr20:30225792 [GRCh37]
Chr20:20q11.21		 benign
NM_032609.3(COX4I2):c.408G>A (p.Thr136=) single nucleotide variant Pancreatic insufficiency-anemia-hyperostosis syndrome [RCV001001687]|not provided [RCV002549165] Chr20:31644796 [GRCh38]
Chr20:30232599 [GRCh37]
Chr20:20q11.21		 likely benign
GRCh37/hg19 20q11.21(chr20:29833534-30494851)x3 copy number gain not provided [RCV001258905] Chr20:29833534..30494851 [GRCh37]
Chr20:20q11.21		 likely benign
GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3 copy number gain not provided [RCV001258738] Chr20:19750804..30479077 [GRCh37]
Chr20:20p11.23-q11.21		 likely pathogenic
NM_032609.3(COX4I2):c.175G>C (p.Ala59Pro) single nucleotide variant Pancreatic insufficiency-anemia-hyperostosis syndrome [RCV001335239]|not provided [RCV003698863] Chr20:31640025 [GRCh38]
Chr20:30227828 [GRCh37]
Chr20:20q11.21		 likely benign|uncertain significance
NM_032609.3(COX4I2):c.1-57G>C single nucleotide variant not provided [RCV001649034] Chr20:31638961 [GRCh38]
Chr20:30226764 [GRCh37]
Chr20:20q11.21		 benign
NC_000020.11:g.31637737G>T single nucleotide variant not provided [RCV001717000] Chr20:31637737 [GRCh38]
Chr20:30225540 [GRCh37]
Chr20:20q11.21		 benign
GRCh37/hg19 20q11.21(chr20:29652122-30272637)x3 copy number gain not provided [RCV001836495] Chr20:29652122..30272637 [GRCh37]
Chr20:20q11.21		 likely benign
NM_032609.3(COX4I2):c.346G>A (p.Ala116Thr) single nucleotide variant not provided [RCV001893813] Chr20:31643502 [GRCh38]
Chr20:30231305 [GRCh37]
Chr20:20q11.21		 uncertain significance
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857) copy number gain not specified [RCV002052707] Chr20:24162775..31820857 [GRCh37]
Chr20:20p11.21-q11.21		 likely pathogenic
GRCh37/hg19 20q11.21(chr20:29652122-30518304)x3 copy number gain not provided [RCV001827831] Chr20:29652122..30518304 [GRCh37]
Chr20:20q11.21		 likely benign
GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3 copy number gain not provided [RCV001829151] Chr20:18665879..33903216 [GRCh37]
Chr20:20p11.23-q11.22		 likely pathogenic
NM_032609.3(COX4I2):c.488A>C (p.Asp163Ala) single nucleotide variant not provided [RCV002041830] Chr20:31644876 [GRCh38]
Chr20:30232679 [GRCh37]
Chr20:20q11.21		 uncertain significance
GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550) copy number gain not specified [RCV002052709] Chr20:25442597..33761550 [GRCh37]
Chr20:20p11.21-q11.22		 pathogenic
NM_032609.3(COX4I2):c.82+10_82+17dup duplication not provided [RCV002188182] Chr20:31639105..31639106 [GRCh38]
Chr20:30226908..30226909 [GRCh37]
Chr20:20q11.21		 likely benign
GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3 copy number gain not provided [RCV002474532] Chr20:29833535..34815537 [GRCh37]
Chr20:20q11.21-11.23		 likely pathogenic
NM_032609.3(COX4I2):c.482G>T (p.Arg161Leu) single nucleotide variant not provided [RCV002616296] Chr20:31644870 [GRCh38]
Chr20:30232673 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.411C>T (p.Asp137=) single nucleotide variant not provided [RCV002776270] Chr20:31644799 [GRCh38]
Chr20:30232602 [GRCh37]
Chr20:20q11.21		 likely benign
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3 copy number gain not provided [RCV002475651] Chr20:29652122..35603726 [GRCh37]
Chr20:20q11.21-11.23		 likely pathogenic
NM_032609.3(COX4I2):c.333C>G (p.Phe111Leu) single nucleotide variant Pancreatic insufficiency-anemia-hyperostosis syndrome [RCV003146700]|not provided [RCV002967596] Chr20:31643489 [GRCh38]
Chr20:30231292 [GRCh37]
Chr20:20q11.21		 likely benign|uncertain significance
NM_032609.3(COX4I2):c.416G>A (p.Arg139Gln) single nucleotide variant Inborn genetic diseases [RCV002990741] Chr20:31644804 [GRCh38]
Chr20:30232607 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.378C>T (p.Tyr126=) single nucleotide variant not provided [RCV002866917] Chr20:31643534 [GRCh38]
Chr20:30231337 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.75A>C (p.Glu25Asp) single nucleotide variant Inborn genetic diseases [RCV002821278] Chr20:31639092 [GRCh38]
Chr20:30226895 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.275T>C (p.Phe92Ser) single nucleotide variant not provided [RCV002979526] Chr20:31643431 [GRCh38]
Chr20:30231234 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.118T>C (p.Cys40Arg) single nucleotide variant Inborn genetic diseases [RCV002804826] Chr20:31639968 [GRCh38]
Chr20:30227771 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.278C>T (p.Ala93Val) single nucleotide variant Inborn genetic diseases [RCV002665415] Chr20:31643434 [GRCh38]
Chr20:30231237 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.242T>A (p.Val81Glu) single nucleotide variant Inborn genetic diseases [RCV002916288] Chr20:31640092 [GRCh38]
Chr20:30227895 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.467A>G (p.Gln156Arg) single nucleotide variant not provided [RCV002628023] Chr20:31644855 [GRCh38]
Chr20:30232658 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.91G>C (p.Gly31Arg) single nucleotide variant Inborn genetic diseases [RCV002989350] Chr20:31639941 [GRCh38]
Chr20:30227744 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.279G>A (p.Ala93=) single nucleotide variant not provided [RCV003088118] Chr20:31643435 [GRCh38]
Chr20:30231238 [GRCh37]
Chr20:20q11.21		 likely benign|uncertain significance
NM_032609.3(COX4I2):c.28G>A (p.Val10Met) single nucleotide variant Pancreatic insufficiency-anemia-hyperostosis syndrome [RCV003143470]|not provided [RCV003069406] Chr20:31639045 [GRCh38]
Chr20:30226848 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.338T>C (p.Ile113Thr) single nucleotide variant not provided [RCV002943826] Chr20:31643494 [GRCh38]
Chr20:30231297 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.154C>T (p.Pro52Ser) single nucleotide variant not provided [RCV002589003] Chr20:31640004 [GRCh38]
Chr20:30227807 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.155C>A (p.Pro52His) single nucleotide variant not provided [RCV003716563] Chr20:31640005 [GRCh38]
Chr20:30227808 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.379+11A>G single nucleotide variant not provided [RCV003826203] Chr20:31643546 [GRCh38]
Chr20:30231349 [GRCh37]
Chr20:20q11.21		 likely benign
NM_032609.3(COX4I2):c.367C>G (p.Gln123Glu) single nucleotide variant not provided [RCV003715452] Chr20:31643523 [GRCh38]
Chr20:30231326 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.82+15C>T single nucleotide variant not provided [RCV003811460] Chr20:31639114 [GRCh38]
Chr20:30226917 [GRCh37]
Chr20:20q11.21		 likely benign
NM_032609.3(COX4I2):c.336C>T (p.Phe112=) single nucleotide variant not provided [RCV003560578] Chr20:31643492 [GRCh38]
Chr20:30231295 [GRCh37]
Chr20:20q11.21		 likely benign
NM_032609.3(COX4I2):c.328T>G (p.Phe110Val) single nucleotide variant not provided [RCV003560577] Chr20:31643484 [GRCh38]
Chr20:30231287 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.464T>C (p.Val155Ala) single nucleotide variant not provided [RCV003555437] Chr20:31644852 [GRCh38]
Chr20:30232655 [GRCh37]
Chr20:20q11.21		 likely benign
NM_032609.3(COX4I2):c.86G>A (p.Arg29His) single nucleotide variant not provided [RCV003729898] Chr20:31639936 [GRCh38]
Chr20:30227739 [GRCh37]
Chr20:20q11.21		 uncertain significance
GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3 copy number gain not specified [RCV003986134] Chr20:29917837..31886619 [GRCh37]
Chr20:20q11.21		 uncertain significance
NM_032609.3(COX4I2):c.174C>T (p.Asn58=) single nucleotide variant COX4I2-related condition [RCV003941410] Chr20:31640024 [GRCh38]
Chr20:30227827 [GRCh37]
Chr20:20q11.21		 likely benign
NM_032609.3(COX4I2):c.481C>T (p.Arg161Cys) single nucleotide variant not provided [RCV003730961] Chr20:31644869 [GRCh38]
Chr20:30232672 [GRCh37]
Chr20:20q11.21		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:760
Count of miRNA genes:448
Interacting mature miRNAs:487
Transcripts:ENST00000376075, ENST00000490030
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 892 990 697 22 67 12 1523 1096 542 124 473 1302 11 1090 816 3
Low 1421 1199 710 414 646 261 2589 1044 3059 247 878 111 155 1 114 1930 2
Below cutoff 24 356 253 145 397 145 139 7 77 9 29 48 2 35 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000376075   ⟹   ENSP00000365243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2031,637,912 - 31,645,006 (+)Ensembl
RefSeq Acc Id: ENST00000490030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2031,637,933 - 31,644,828 (+)Ensembl
RefSeq Acc Id: NM_032609   ⟹   NP_115998
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382031,637,912 - 31,645,006 (+)NCBI
GRCh372030,225,685 - 30,232,837 (+)NCBI
Build 362029,689,352 - 29,696,461 (+)NCBI Archive
HuRef2027,014,417 - 27,021,500 (+)ENTREZGENE
CHM1_12030,129,576 - 30,136,686 (+)NCBI
T2T-CHM13v2.02033,362,179 - 33,369,276 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005260579   ⟹   XP_005260636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382031,639,122 - 31,645,006 (+)NCBI
GRCh372030,225,685 - 30,232,837 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005260580   ⟹   XP_005260637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382031,639,109 - 31,645,006 (+)NCBI
GRCh372030,225,685 - 30,232,837 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005260581   ⟹   XP_005260638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382031,637,912 - 31,645,006 (+)NCBI
GRCh372030,225,685 - 30,232,837 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054324148   ⟹   XP_054180123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02033,363,391 - 33,369,276 (+)NCBI
RefSeq Acc Id: XM_054324149   ⟹   XP_054180124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02033,363,378 - 33,369,276 (+)NCBI
RefSeq Acc Id: XM_054324150   ⟹   XP_054180125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02033,362,179 - 33,369,276 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_115998   ⟸   NM_032609
- UniProtKB: Q6GTF4 (UniProtKB/Swiss-Prot),   Q9H0Z4 (UniProtKB/Swiss-Prot),   Q96KJ9 (UniProtKB/Swiss-Prot),   H6SG14 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005260638   ⟸   XM_005260581
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005260637   ⟸   XM_005260580
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005260636   ⟸   XM_005260579
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000365243   ⟸   ENST00000376075
RefSeq Acc Id: XP_054180125   ⟸   XM_054324150
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054180124   ⟸   XM_054324149
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054180123   ⟸   XM_054324148
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96KJ9-F1-model_v2 AlphaFold Q96KJ9 1-171 view protein structure

Promoters
RGD ID:13206607
Promoter ID:EPDNEW_H26884
Type:initiation region
Name:COX4I2_1
Description:cytochrome c oxidase subunit 4I2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382031,637,912 - 31,637,972EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16232 AgrOrtholog
COSMIC COX4I2 COSMIC
Ensembl Genes ENSG00000131055 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000376075 ENTREZGENE
  ENST00000376075.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.442.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131055 GTEx
HGNC ID HGNC:16232 ENTREZGENE
Human Proteome Map COX4I2 Human Proteome Map
InterPro Cyt_c_oxidase_su4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c_oxidase_su4_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c_oxidase_su4_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84701 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 84701 ENTREZGENE
OMIM 607976 OMIM
PANTHER CYTOCHROME C OXIDASE SUBUNIT 4 ISOFORM 2, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10707 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COX4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26783 PharmGKB
PRINTS CYTCOXIDASE4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81406 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt COX42_HUMAN UniProtKB/Swiss-Prot
  H6SG14 ENTREZGENE, UniProtKB/TrEMBL
  Q6GTF4 ENTREZGENE
  Q96KJ9 ENTREZGENE
  Q9H0Z4 ENTREZGENE
UniProt Secondary Q6GTF4 UniProtKB/Swiss-Prot
  Q9H0Z4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 COX4I2  cytochrome c oxidase subunit 4I2  COX4I2  cytochrome c oxidase subunit IV isoform 2 (lung)  Symbol and/or name change 5135510 APPROVED