H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000035536 Accession number: BC011910 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2; NADH-ubiquinone oxidoreductase MLRQ subunit homolog; NUOMS;
 
 

Transcript original information
Accession number BC011910.2
CAGE tag ID NA
EST ID NA
Clone Number MGC:19921 IMAGE:4138587
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (NDUFA4L2) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (NDUFA4L2);
Sequence data provider Provider:MGC/NCI
Annotation project H-Invitational FLcDNA
Length of cDNA 1275[bp] (No. of exon:4)[A:334 T:195 G:341 C:405]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Muscle, rhabdomyosarcoma
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 1187(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) NA
Transcript quality feature NA
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0201820
Genomic location  G-integra Help Chromosome 12
Location 12q13.3
Position 57628687- 57631121
Strand -
Possible duplicated location(s) NA
Gene structure 4 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:56901
KEGG GENES KEGG GENES(56901)
GeneCard GeneCardNDUFA4L2*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS G-integraG-integra cDNA-genome alignmentcDNA-genome alignment

Predicted CDS information
HIP ID HIP000027098
Predicted CDS 265..528;  87[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.783
Database links RefSeq NP_064527
UniProt Q9NRX3
CCDS CCDS8935

Motif information
ORF

length(87),orf(265:528)
MAGASLGARFYRQIKRHPGIIPMIGLICLGMGSAALYLLRLALRSPDVCW
DRKNNPEPWNRLSPNDQYKFLAVSTDYKKLKKDRPDF*
a.a.
length
InterPro Name
length(87), motif(1:87) 87 IPR010530 NADH-ubiquinone reductase complex 1 MLRQ subunit [Family]
length(73), motif(15:87) 73 IPR010530 NADH-ubiquinone reductase complex 1 MLRQ subunit [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000035536
H-Inv cluster ID Locus viewHIX0201820
Accession number BC011910.2
CAGE tag ID NA
EST ID NA
Transcript feature  Help Representative H-Inv IDRepresentative transcript;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2; NADH-ubiquinone oxidoreductase MLRQ subunit homolog; NUOMS;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (Q9NRX3)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 1093194615489334ALL
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol NDUFA4L2
HGNC aliases NA
HGNC name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2
DDBJ NDUFA4L2
UniProt NDUFA4L2
EC number NA
GGDB
(GlycoGene Database)
Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000027098
No. of interaction 1
Interaction partner(s) HIP000104855
BIND NA
DIP NA
MINT MINT-65616;  MINT-65617;  MINT-65618;  MINT-65620;  MINT-65621;  MINT-65622;  MINT-65623;  MINT-65624;  MINT-65625;  MINT-65626; 
HPRD 01444;  03245;  03334;  04889;  05201;  09342;  11938;  12808;  12891;  13086;  17456;  17943; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:56901
KEGG GENES KEGG GENES(56901)
GeneCard GeneCardNDUFA4L2*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Human curated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool TACTTACT
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA


Subcellular localization information  Last modified:27-May-2015
WoLF PSORT extracellular;  plasma membrane; 
Target P Not predicted
SOSUI membrane protein
TMHMM membrane protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene AGhsB040316; 
Affymetrix
GeneChip
HG-Focus 218484_at; 
HG-U133 218484_at; 
HG-U133A 218484_at; 
HG-U133A_2 218484_at; 
HG-U133B NA
HG-U133_Plus_2 218484_at; 
HG-U95 48857_at; 
HG-U95A NA
HG-U95B NA
HG-U95C 48857_at; 
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 3458402;  3458403;  3458404;  3458405;  3458406;  3458408;  3458412;  3458413;  3458414;  3458415;  3458416; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 A_23_P9615; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P9614; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Evolutionary information  Evola Help Last modified:27-May-2015
Relationship Species Accession number MGI Links
Orthology Mus sp. (Mouse) AK131609 MGI:3531699 G-integraG-integra
Orthology Danio sp. (Zebrafish) BC059706 G-integraG-integra
Orthology Bos sp. (Cow) BC103157 G-integraG-integra
Orthology Tetraodon sp. (Tetraodon) CR684785 G-integraG-integra
Orthology Oryzias sp. (Medaka) ENSORLT00000004745 G-integraG-integra
Orthology Pongo sp. (Orangutan) ENSPPYT00000005546 G-integraG-integra
Orthology Pan sp. (Chimpanzee) ENSPTRT00000009418 G-integraG-integra
Orthology Rattus sp. (Rat) ENSRNOT00000045083 G-integraG-integra
Orthology Takifugu sp. (Fugu) SINFRUT00000183366 G-integraG-integra
Orthology Macaca sp. (Macaque) XM_001115919 G-integraG-integra
Orthology Danio sp. (Zebrafish) XM_001342673 G-integraG-integra
Orthology Monodelphis sp. (Opossum) XM_001376447 G-integraG-integra
Orthology Equus sp. (Horse) XM_001488582 G-integraG-integra
Orthology Canis sp. (Dog) XM_844052 G-integraG-integra
Phylogenetic tree [View by ATV]
Neighbor-joining (phb) 
Related H-InvDB links EvolaEvoladN/dS (under constraction); 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
289 .. 289 C/T rs149627042 - CDS Nonsynonymous[Arg9Cys]
290 .. 290 G/A rs183380179 - CDS Nonsynonymous[Arg9His]
298 .. 298 C/T rs139354626 - CDS Nonsynonymous[Arg12Trp]
402 .. 402 C/T rs150867195 - CDS Synonymous[Pro46Pro]
429 .. 429 C/A rs201774500 - CDS Nonsynonymous[Asn55Lys]
431 .. 431 C/T rs202089444 - CDS Nonsynonymous[Pro56Leu]
446 .. 446 G/A rs201338144 - CDS Nonsynonymous[Arg61His]
479 .. 479 C/T rs182908610 - CDS Nonsynonymous[Ala72Val]
500 .. 500 A/G rs141470805 - CDS Nonsynonymous[Lys79Arg]
512 .. 512 A/T/G rs111261674 - CDS
514 .. 514 C/T rs139105980 - CDS Nonsynonymous[Arg84Trp]
519 .. 519 A/G rs146434537 - CDS Synonymous[Pro85Pro]
543 .. 543 C/T rs200359690 - 3'UTR
619 .. 619 C/T rs191383236 - 3'UTR
652 .. 652 C/T rs145326720 - 3'UTR
671 .. 671 G/A rs148505016 - 3'UTR
704 .. 704 C/T rs144756813 - 3'UTR
820 .. 820 C/A rs186647308 - 3'UTR
955 .. 955 G/A rs149792231 - 3'UTR
1023 .. 1023 C/T rs139920041 - 3'UTR
1061 .. 1061 C/A rs146112457 - 3'UTR
1065 ^ 1066 -/C rs34284236 - 3'UTR
1070 .. 1070 C/A rs181142547 - 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer