Ndufa4l2 Gene Detail

Summary

• Symbol
  Ndufa4l2
• Name
  Ndufa4, mitochondrial complex associated like 2

• Feature Type
  protein coding gene
• IDs
  MGI:3039567
  NCBI Gene: 407790
• Alliance
  gene page
• Transcription Start Sites
  4 TSS

Location &
Maps

• Sequence Map
  Chr10:127350836-127353023 bp, + strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 10, 74.51 cM
• Mapping Data
  1 experiment

Strain
Comparison

• SNPs within 2kb
  137 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3039567	protein coding gene	Chr10:127345143-127353023 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017824	protein coding gene	Chr10:131135123-131137336 (+)
A/J	MGP_AJ_G0017799	protein coding gene	Chr10:125883298-125885510 (+)
AKR/J	MGP_AKRJ_G0017762	protein coding gene	Chr10:129595611-129597824 (+)
BALB/cJ	MGP_BALBcJ_G0017763	protein coding gene	Chr10:126285843-126288055 (+)
C3H/HeJ	MGP_C3HHeJ_G0017587	protein coding gene	Chr10:129748896-129751138 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018218	protein coding gene	Chr10:135576184-135578397 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015898	protein coding gene	Chr10:119869614-119871794 (+)
CAST/EiJ	MGP_CASTEiJ_G0017147	protein coding gene	Chr10:130407925-130410158 (+)
CBA/J	MGP_CBAJ_G0017556	protein coding gene	Chr10:141044846-141047088 (+)
DBA/2J	MGP_DBA2J_G0017662	protein coding gene	Chr10:124958366-124960613 (+)
FVB/NJ	MGP_FVBNJ_G0017657	protein coding gene	Chr10:123897827-123900039 (+)
LP/J	MGP_LPJ_G0017736	protein coding gene	Chr10:131705541-131707754 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017685	protein coding gene	Chr10:143740105-143742317 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018258	protein coding gene	Chr10:129664210-129666457 (+)
PWK/PhJ	MGP_PWKPhJ_G0016932	protein coding gene	Chr10:125163952-125166218 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016724	protein coding gene	Chr10:128703067-128705270 (+)
WSB/EiJ	MGP_WSBEiJ_G0017208	protein coding gene	Chr10:129890662-129892864 (+)

Homology

• Human Ortholog
  NDUFA4L2, NDUFA4 mitochondrial complex associated like 2

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  NDUFA4L2, NDUFA4 mitochondrial complex associated like 2
  
• Synonyms
  COXFA4L2, MISTRH, NUOMS
• Links
  HGNC:29836

  NCBI Gene ID: 56901

  neXtProt AC: NX_Q9NRX3

  UniProt: Q9NRX3

  
  
• Chr Location
  12q13.3; chr12:57234903-57240762 (-)  GRCh38

---

• MGI Vertebrate Homology
  Ndufa4l2 stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: NDUFA4L2
• Gene Tree
  Ndufa4l2
  

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  1 phenotype from 2 alleles in 1 genetic background
  10 phenotype references
  

• All Mutations and Alleles
  10
• Endonuclease-mediated
  2
• Gene trapped
  2
• Targeted
  6
• Find Mice (IMSR)
  10 strains or lines available

Mice homzoygous for a conditional allele activated in carotid body glomus cells exhibit slightly higher responsiveness to hypoxia.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  1
• GO References
  1

Expression

• Assay Results
  811
• Tissues
  105
• cDNA Data
  31
• Literature Summary
  4

Images

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas

Sequences &
Gene Models

• All Sequences
  37
• RefSeq
  6
• UniProt
  1
• CCDS
  CCDS36080.1

• Ensembl
  ENSMUSG00000040280 (Evidence)
• NCBI Gene
  407790

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000040280	Ensembl Gene Model | MGI Sequence Detail	2188	C57BL/6J
transcript	ENSMUST00000035735	Ensembl | MGI Sequence Detail	934	Not Applicable
polypeptide	ENSMUSP00000042185	Ensembl | MGI Sequence Detail	87	Not Applicable

Protein
Information

• UniProt
  1 Sequence
• Protein Ontology
  PR:000011075 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2
  (term hierarchy)
• InterPro Domains
  IPR010530 NADH-ubiquinone reductase complex 1 MLRQ subunit

Molecular
Reagents

• All nucleic 34

  cDNA 31

  Primer pair 3

  
  

  Microarray probesets 2

References

• Summaries
  All 33

  Developmental Gene Expression 4

  Gene Ontology 1

  Phenotypes 10
• Earliest
  J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
• Latest
  J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Ndufa4l2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr96222	Chr10:127350820-127350848 (+)	-2 bp
Tssr96223	Chr10:127351029-127351037 (+)	197 bp
Tssr96224	Chr10:127351587-127351624 (+)	770 bp
Tssr96225	Chr10:127351646-127351658 (+)	816 bp