NDUFC2-KCTD14 (NDUFC2-KCTD14 readthrough) - Rat Genome Database

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Gene: NDUFC2-KCTD14 (NDUFC2-KCTD14 readthrough) Homo sapiens
Analyze
No known orthologs.
Symbol: NDUFC2-KCTD14
Name: NDUFC2-KCTD14 readthrough
RGD ID: 5508033
HGNC Page HGNC:42956
Description: Predicted to be involved in mitochondrial electron transport, NADH to ubiquinone. Located in mitochondrion.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ94527; NADH dehydrogenase [ubiquinone] 1 subunit C2; NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2; NDUFC2-KCTD14 readthrough transcript protein
RGD Orthologs
Alliance Genes
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381178,015,715 - 78,079,862 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1178,016,971 - 78,079,865 (-)EnsemblGRCh38hg38GRCh38
GRCh371177,726,761 - 77,790,908 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map11q14.1NCBI
HuRef1174,025,336 - 74,089,640 (-)NCBIHuRef
CHM1_11177,609,954 - 77,674,456 (-)NCBICHM1_1
T2T-CHM13v2.01177,948,957 - 78,013,101 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:20967262   PMID:21873635   PMID:31980649  


Genomics

Variants

.
Variants in NDUFC2-KCTD14
25 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q13.4-14.1(chr11:71923251-79662025)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|See cases [RCV000052684] Chr11:71923251..79662025 [GRCh38]
Chr11:71634297..79373069 [GRCh37]
Chr11:71311945..79050717 [NCBI36]
Chr11:11q13.4-14.1		 pathogenic
GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 copy number loss See cases [RCV000052709] Chr11:71969881..78232895 [GRCh38]
Chr11:71680927..77943941 [GRCh37]
Chr11:71358575..77621589 [NCBI36]
Chr11:11q13.4-14.1		 pathogenic
NM_001203260.1(NDUFC2-KCTD14):c.311-1664G>C single nucleotide variant Lung cancer [RCV000110272] Chr11:78040422 [GRCh38]
Chr11:77751468 [GRCh37]
Chr11:11q14.1		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1		 pathogenic
NM_003251.4(THRSP):c.29A>G (p.Lys10Arg) single nucleotide variant Inborn genetic diseases [RCV003245343] Chr11:78063910 [GRCh38]
Chr11:77774956 [GRCh37]
Chr11:11q14.1		 uncertain significance
GRCh37/hg19 11q14.1(chr11:77776112-77921527)x1 copy number loss See cases [RCV000446713] Chr11:77776112..77921527 [GRCh37]
Chr11:11q14.1		 uncertain significance
GRCh37/hg19 11q14.1(chr11:77415541-77785783)x3 copy number gain See cases [RCV000446574] Chr11:77415541..77785783 [GRCh37]
Chr11:11q14.1		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_023930.4(KCTD14):c.461G>A (p.Arg154His) single nucleotide variant Inborn genetic diseases [RCV003254600] Chr11:78016900 [GRCh38]
Chr11:77727946 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_023930.4(KCTD14):c.634G>A (p.Asp212Asn) single nucleotide variant Inborn genetic diseases [RCV003243696] Chr11:78016727 [GRCh38]
Chr11:77727773 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_003251.4(THRSP):c.118G>A (p.Val40Met) single nucleotide variant Inborn genetic diseases [RCV003267555] Chr11:78063999 [GRCh38]
Chr11:77775045 [GRCh37]
Chr11:11q14.1		 uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_003251.4(THRSP):c.425C>T (p.Thr142Met) single nucleotide variant not provided [RCV000951296] Chr11:78064306 [GRCh38]
Chr11:77775352 [GRCh37]
Chr11:11q14.1		 benign
NM_023930.4(KCTD14):c.115G>T (p.Val39Phe) single nucleotide variant Inborn genetic diseases [RCV003271018] Chr11:78017246 [GRCh38]
Chr11:77728292 [GRCh37]
Chr11:11q14.1		 uncertain significance
GRCh37/hg19 11q14.1(chr11:77410575-77785783)x3 copy number gain not provided [RCV000849393] Chr11:77410575..77785783 [GRCh37]
Chr11:11q14.1		 uncertain significance
GRCh37/hg19 11q14.1(chr11:77410575-77785783)x3 copy number gain not provided [RCV000848868] Chr11:77410575..77785783 [GRCh37]
Chr11:11q14.1		 uncertain significance
GRCh37/hg19 11q14.1(chr11:77617820-77784237)x3 copy number gain not provided [RCV001535655] Chr11:77617820..77784237 [GRCh37]
Chr11:11q14.1		 not provided
NM_004549.6(NDUFC2):c.346_*7del (p.His116fs) deletion Mitochondrial complex 1 deficiency, nuclear type 36 [RCV001290294]|Mitochondrial disease [RCV001251449] Chr11:78069980..78070001 [GRCh38]
Chr11:77781026..77781047 [GRCh37]
Chr11:11q14.1		 pathogenic
NM_004549.6(NDUFC2):c.173A>T (p.His58Leu) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 36 [RCV001290295]|Mitochondrial disease [RCV001251448] Chr11:78073135 [GRCh38]
Chr11:77784181 [GRCh37]
Chr11:11q14.1		 pathogenic
GRCh37/hg19 11q14.1(chr11:77575261-77902589)x3 copy number gain not provided [RCV001260133] Chr11:77575261..77902589 [GRCh37]
Chr11:11q14.1		 uncertain significance
GRCh37/hg19 11q14.1(chr11:77776112-77921527) copy number loss not specified [RCV002052939] Chr11:77776112..77921527 [GRCh37]
Chr11:11q14.1		 uncertain significance
GRCh37/hg19 11q14.1(chr11:77415541-77785783) copy number gain not specified [RCV002052938] Chr11:77415541..77785783 [GRCh37]
Chr11:11q14.1		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_023930.4(KCTD14):c.529G>A (p.Glu177Lys) single nucleotide variant Inborn genetic diseases [RCV003285184] Chr11:78016832 [GRCh38]
Chr11:77727878 [GRCh37]
Chr11:11q14.1		 uncertain significance
GRCh37/hg19 11q14.1(chr11:77211136-78014355)x3 copy number gain not provided [RCV002474594] Chr11:77211136..78014355 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_023930.4(KCTD14):c.340G>A (p.Glu114Lys) single nucleotide variant Inborn genetic diseases [RCV002990795] Chr11:78017021 [GRCh38]
Chr11:77728067 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_023930.4(KCTD14):c.238G>A (p.Asp80Asn) single nucleotide variant Inborn genetic diseases [RCV002973548] Chr11:78017123 [GRCh38]
Chr11:77728169 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_023930.4(KCTD14):c.671A>C (p.Gln224Pro) single nucleotide variant Inborn genetic diseases [RCV002754850] Chr11:78016690 [GRCh38]
Chr11:77727736 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_001203260.2(NDUFC2-KCTD14):c.314G>T (p.Gly105Val) single nucleotide variant Inborn genetic diseases [RCV002989858] Chr11:78038755 [GRCh38]
Chr11:77749801 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_023930.4(KCTD14):c.694T>A (p.Phe232Ile) single nucleotide variant Inborn genetic diseases [RCV002748723] Chr11:78016667 [GRCh38]
Chr11:77727713 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_023930.4(KCTD14):c.133A>G (p.Thr45Ala) single nucleotide variant Inborn genetic diseases [RCV002688807] Chr11:78017228 [GRCh38]
Chr11:77728274 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_003251.4(THRSP):c.229C>T (p.Arg77Trp) single nucleotide variant Inborn genetic diseases [RCV003000541] Chr11:78064110 [GRCh38]
Chr11:77775156 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_001203260.2(NDUFC2-KCTD14):c.367G>A (p.Val123Met) single nucleotide variant Inborn genetic diseases [RCV002850432] Chr11:78038702 [GRCh38]
Chr11:77749748 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_003251.4(THRSP):c.112C>T (p.Arg38Trp) single nucleotide variant Inborn genetic diseases [RCV002936061] Chr11:78063993 [GRCh38]
Chr11:77775039 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_023930.4(KCTD14):c.539C>T (p.Ala180Val) single nucleotide variant Inborn genetic diseases [RCV002878503] Chr11:78016822 [GRCh38]
Chr11:77727868 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_003251.4(THRSP):c.92T>C (p.Val31Ala) single nucleotide variant Inborn genetic diseases [RCV002718862] Chr11:78063973 [GRCh38]
Chr11:77775019 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_023930.4(KCTD14):c.728T>G (p.Phe243Cys) single nucleotide variant Inborn genetic diseases [RCV003179644] Chr11:78016633 [GRCh38]
Chr11:77727679 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_023930.4(KCTD14):c.132C>A (p.His44Gln) single nucleotide variant Inborn genetic diseases [RCV003206601] Chr11:78017229 [GRCh38]
Chr11:77728275 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_023930.4(KCTD14):c.482T>A (p.Ile161Lys) single nucleotide variant Inborn genetic diseases [RCV003338262] Chr11:78016879 [GRCh38]
Chr11:77727925 [GRCh37]
Chr11:11q14.1		 uncertain significance
GRCh37/hg19 11q14.1(chr11:77541456-77832469)x4 copy number gain not provided [RCV003485358] Chr11:77541456..77832469 [GRCh37]
Chr11:11q14.1		 uncertain significance
GRCh37/hg19 11q14.1(chr11:77410576-77785957)x3 copy number gain not provided [RCV003484845] Chr11:77410576..77785957 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_004549.6(NDUFC2):c.259C>T (p.Arg87Cys) single nucleotide variant not provided [RCV003390100] Chr11:78073049 [GRCh38]
Chr11:77784095 [GRCh37]
Chr11:11q14.1		 uncertain significance
NM_004549.6(NDUFC2):c.*111G>A single nucleotide variant not provided [RCV003395944] Chr11:78069876 [GRCh38]
Chr11:77780922 [GRCh37]
Chr11:11q14.1		 likely benign
NM_004549.6(NDUFC2):c.*87T>C single nucleotide variant not provided [RCV003886766] Chr11:78069900 [GRCh38]
Chr11:77780946 [GRCh37]
Chr11:11q14.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:546
Count of miRNA genes:253
Interacting mature miRNAs:273
Transcripts:ENST00000528251, ENST00000530054
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.

Markers in Region
RH47260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,784,044 - 77,784,185UniSTSGRCh37
Build 361177,461,692 - 77,461,833RGDNCBI36
Celera1175,092,506 - 75,092,647RGD
Cytogenetic Map11q14.1UniSTS
HuRef1174,082,406 - 74,082,547UniSTS
GeneMap99-GB4 RH Map11277.83UniSTS
RH80555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,726,806 - 77,727,054UniSTSGRCh37
Build 361177,404,454 - 77,404,702RGDNCBI36
Celera1175,035,275 - 75,035,523RGD
Cytogenetic Map11q14.1UniSTS
HuRef1174,025,381 - 74,025,629UniSTS
GeneMap99-GB4 RH Map11274.08UniSTS
SHGC-53311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,790,945 - 77,791,158UniSTSGRCh37
Build 361177,468,593 - 77,468,806RGDNCBI36
Celera1175,099,424 - 75,099,637RGD
Cytogenetic Map11q14.1UniSTS
HuRef1174,089,320 - 74,089,533UniSTS
TNG Radiation Hybrid Map1135415.0UniSTS
SHGC-32876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,784,053 - 77,784,181UniSTSGRCh37
Build 361177,461,701 - 77,461,829RGDNCBI36
Celera1175,092,515 - 75,092,643RGD
Cytogenetic Map11q14.1UniSTS
HuRef1174,082,415 - 74,082,543UniSTS
TNG Radiation Hybrid Map1135415.0UniSTS
Stanford-G3 RH Map113457.0UniSTS
GeneMap99-GB4 RH Map11277.02UniSTS
Whitehead-RH Map11375.6UniSTS
GeneMap99-G3 RH Map113457.0UniSTS
WI-20939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,726,805 - 77,727,060UniSTSGRCh37
Build 361177,404,453 - 77,404,708RGDNCBI36
Celera1175,035,274 - 75,035,529RGD
Cytogenetic Map11q14.1UniSTS
HuRef1174,025,380 - 74,025,635UniSTS
GeneMap99-GB4 RH Map11276.92UniSTS
Whitehead-RH Map11375.6UniSTS
NCBI RH Map11637.9UniSTS
RH45705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,791,091 - 77,791,234UniSTSGRCh37
Build 361177,468,739 - 77,468,882RGDNCBI36
Celera1175,099,570 - 75,099,713RGD
Cytogenetic Map11q14.1UniSTS
HuRef1174,089,466 - 74,089,609UniSTS
GeneMap99-GB4 RH Map11278.45UniSTS


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 entire extraembryonic component pharyngeal arch
High
Medium 7 7 3 2 3 1 2 4 26 1 12 5 4 1 2 2
Low 1 1 2 1 31 1
Below cutoff 17 81 46 64 46 21 30 92 69 76

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000528251   ⟹   ENSP00000435967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1178,016,971 - 78,079,844 (-)Ensembl
RefSeq Acc Id: ENST00000530054   ⟹   ENSP00000432614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1178,017,046 - 78,079,865 (-)Ensembl
RefSeq Acc Id: ENST00000612612   ⟹   ENSP00000478766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1178,017,175 - 78,079,773 (-)Ensembl
RefSeq Acc Id: ENST00000614236   ⟹   ENSP00000481472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1178,017,175 - 78,079,773 (-)Ensembl
RefSeq Acc Id: NM_001203260   ⟹   NP_001190189
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,015,715 - 78,079,862 (-)NCBI
GRCh371177,726,761 - 77,791,265 (-)ENTREZGENE
HuRef1174,025,336 - 74,089,640 (-)ENTREZGENE
CHM1_11177,609,954 - 77,674,456 (-)NCBI
T2T-CHM13v2.01177,948,957 - 78,013,101 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001203261   ⟹   NP_001190190
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,015,715 - 78,079,862 (-)NCBI
GRCh371177,726,761 - 77,791,265 (-)ENTREZGENE
HuRef1174,025,336 - 74,089,640 (-)ENTREZGENE
CHM1_11177,609,954 - 77,674,456 (-)NCBI
T2T-CHM13v2.01177,948,957 - 78,013,101 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001203262   ⟹   NP_001190191
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,015,715 - 78,079,862 (-)NCBI
GRCh371177,726,761 - 77,791,265 (-)ENTREZGENE
HuRef1174,025,336 - 74,089,640 (-)ENTREZGENE
CHM1_11177,609,954 - 77,674,456 (-)NCBI
T2T-CHM13v2.01177,948,957 - 78,013,101 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001190191   ⟸   NM_001203262
- Peptide Label: isoform 3
- UniProtKB: A0A087WY27 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001190190   ⟸   NM_001203261
- Peptide Label: isoform 2
- UniProtKB: E9PQ53 (UniProtKB/Swiss-Prot),   E9PM14 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001190189   ⟸   NM_001203260
- Peptide Label: isoform 1
- UniProtKB: A0A087WUM3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000432614   ⟸   ENST00000530054
RefSeq Acc Id: ENSP00000478766   ⟸   ENST00000612612
RefSeq Acc Id: ENSP00000481472   ⟸   ENST00000614236
RefSeq Acc Id: ENSP00000435967   ⟸   ENST00000528251

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-E9PQ53-F1-model_v2 AlphaFold E9PQ53 1-114 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:42956 AgrOrtholog
COSMIC NDUFC2-KCTD14 COSMIC
Ensembl Genes ENSG00000259112 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000528251.1 UniProtKB/TrEMBL
  ENST00000530054 ENTREZGENE
  ENST00000530054.1 UniProtKB/Swiss-Prot
  ENST00000612612 ENTREZGENE
  ENST00000612612.5 UniProtKB/TrEMBL
  ENST00000614236 ENTREZGENE
  ENST00000614236.2 UniProtKB/TrEMBL
GTEx ENSG00000259112 GTEx
HGNC ID HGNC:42956 ENTREZGENE
Human Proteome Map NDUFC2-KCTD14 Human Proteome Map
InterPro NADH-UbQ_OxRdtase_b14.5b_su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:100532726 UniProtKB/Swiss-Prot
NCBI Gene 100532726 ENTREZGENE
PANTHER NADH DEHYDROGENASE [UBIQUINONE] 1 SUBUNIT C2-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13099 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NDUF_C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PIRSF NADH-UbQ_OxRdtase_b14.5b UniProtKB/Swiss-Prot
UniProt A0A087WUM3 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WY27 ENTREZGENE, UniProtKB/TrEMBL
  E9PM14 ENTREZGENE
  E9PQ53 ENTREZGENE
  E9PRQ4_HUMAN UniProtKB/TrEMBL
  NDUCR_HUMAN UniProtKB/Swiss-Prot