Ndufs2 MGI Mouse Gene Detail - MGI:2385112 - NADH:ubiquinone oxidoreductase core subunit S2

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Ndufs2 Gene Detail

Symbol

Ndufs2
Name

NADH:ubiquinone oxidoreductase core subunit S2
Synonyms

MGC:27667

Feature Type

protein coding gene
IDs

MGI:2385112
NCBI Gene: 226646
Alliance

gene page
Transcription Start Sites

6 TSS
Candidate for QTL

1 QTL

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Sequence Map

Chr1:171062426-171078956 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 79.25 cM
Mapping Data

3 experiments

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SNPs within 2kb

508 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_2385112	protein coding gene	Chr1:171062422-171078957 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016749	protein coding gene	Chr1:177015975-177035400 (-)
A/J	MGP_AJ_G0016729	protein coding gene	Chr1:169816130-169832744 (-)
AKR/J	MGP_AKRJ_G0016695	protein coding gene	Chr1:174903460-174921573 (-)
BALB/cJ	MGP_BALBcJ_G0016690	protein coding gene	Chr1:170298756-170315930 (-)
C3H/HeJ	MGP_C3HHeJ_G0016513	protein coding gene	Chr1:175148307-175165124 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0017151	protein coding gene	Chr1:182899115-182918945 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014859	protein coding gene	Chr1:161496366-161513021 (-)
CAST/EiJ	MGP_CASTEiJ_G0016094	protein coding gene	Chr1:174770984-174790077 (-)
CBA/J	MGP_CBAJ_G0016488	protein coding gene	Chr1:189416450-189435564 (-)
DBA/2J	MGP_DBA2J_G0016595	protein coding gene	Chr1:168655801-168672871 (-)
FVB/NJ	MGP_FVBNJ_G0016591	protein coding gene	Chr1:167003950-167020487 (-)
LP/J	MGP_LPJ_G0016666	protein coding gene	Chr1:178136579-178155634 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016618	protein coding gene	Chr1:196698806-196717920 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017188	protein coding gene	Chr1:174774371-174790863 (-)
PWK/PhJ	MGP_PWKPhJ_G0015880	protein coding gene	Chr1:167878138-167894922 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015664	protein coding gene	Chr1:173559083-173575379 (-)
WSB/EiJ	MGP_WSBEiJ_G0016156	protein coding gene	Chr1:174891349-174907951 (-)

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Human Ortholog

NDUFS2, NADH:ubiquinone oxidoreductase core subunit S2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NDUFS2, NADH:ubiquinone oxidoreductase core subunit S2
Synonyms

CI-49, LHONAR2, MC1DN6
Links

HGNC:7708

NCBI Gene ID: 4720

neXtProt AC: NX_O75306

UniProt: O75306
Chr Location

1q23.3; chr1:161197104-161214723 (+) GRCh38

MGI Vertebrate Homology

Ndufs2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NDUFS2
Gene Tree

Ndufs2

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Diseases

5 with human NDUFS2 associations

				Human Disease	Mouse Models
				hypertrophic cardiomyopathy IDs hypertrophic cardiomyopathy DOID:11984 DOID:11986 ICD9CM:425.1 ICD9CM:425.11 KEGG:05410 MESH:D002312 NCI:C34449 ORDO:217569 UMLS_CUI:C0007194
				inherited metabolic disorder IDs inherited metabolic disorder DOID:655 MESH:D008661 NCI:C34816 UMLS_CUI:C0025521
				Leigh disease IDs Leigh disease DOID:3652 ICD10CM:G31.82 MESH:D007888 NCI:C84814 OMIM:256000 ORDO:506 UMLS_CUI:C0023264
				multiple sclerosis IDs multiple sclerosis DOID:2377 ICD10CM:G35 ICD9CM:340 MESH:D009103 NCI:C3243 OMIM:612594 OMIM:612595 OMIM:612596 UMLS_CUI:C0026769
				nuclear type mitochondrial complex I deficiency 6 IDs nuclear type mitochondrial complex I deficiency 6 DOID:0112066 OMIM:618228

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
17 phenotype references

Phenotype Overview

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

24
Chemically induced (other)

2
Endonuclease-mediated

2
Gene trapped

19
Targeted

1
Genomic Mutations

2 involving Ndufs2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

33 strains or lines available

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All GO Annotations

48
GO References

18

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

808
Tissues

100
cDNA Data

315
Literature Summary

7

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ndufs2

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All Sequences

79
RefSeq

6
UniProt

4
CCDS

CCDS15484.1

Ensembl

ENSMUSG00000013593 (Evidence)
NCBI Gene

226646

Representative Sequences				Length	Strain/Species	Flank
	genomic	226646	NCBI Gene Model \| MGI Sequence Detail	16531	C57BL/6J	± kb
	transcript	NM_153064	RefSeq \| MGI Sequence Detail	1603	C57BL/6
	polypeptide	Q91WD5	UniProt \| EBI \| MGI Sequence Detail	463	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000011097 NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial

(term hierarchy)
PDB

6G2J, 6G72, 6ZR2, 6ZTQ, 7AK5, 7AK6, 7B93, 7PSA, 8C2S, 8CA3, 8CA5, 8OLT, 8OM1, 8PW5, 8PW6, 8PW7, 8RGP, 8RGQ, 8RGR, 8RGT
EC

7.1.1.2
InterPro Domains

IPR001135 NADH-quinone oxidoreductase, subunit D

IPR014029 NADH:ubiquinone oxidoreductase, 49kDa subunit, conserved site

IPR022885 NAD(P)H-quinone oxidoreductase subunit D/H

IPR029014 [NiFe]-hydrogenase, large subunit
GlyGen

Q91WD5 1 site, 1 O-linked glycan (1 site)

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All nucleic 320

cDNA 315

Primer pair 5

Microarray probesets 3

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MGI:2138402

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Summaries

All 59

Developmental Gene Expression 7

Gene Ontology 18

Phenotypes 17
Earliest

J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
Latest

J:355679 Vercellino I, et al., SCAF1 drives the compositional diversity of mammalian respirasomes. Nat Struct Mol Biol. 2024 Jul;31(7):1061-1071

TSS for Ndufs2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr15024	Chr1:171079233-171079244 (-)	-283 bp
Tssr15023	Chr1:171074665-171074690 (-)	4,278 bp
Tssr15022	Chr1:171068614-171068628 (-)	10,335 bp
Tssr15021	Chr1:171067676-171067685 (-)	11,275 bp
Tssr15020	Chr1:171065176-171065193 (-)	13,771 bp
Tssr15019	Chr1:171065167-171065175 (-)	13,785 bp

Ndufs2 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Thcir5	Chr1, syntenic		J:314541	Top positional candidate genes include: Ndufs2 (MGI:2385112) for Thcir5; Scp2 (MGI:98254) for Thcir6; Rps6kb1 (MGI:1270849) for Thcir2; Pde4d (MGI:99555) for Thcir4; and Pten (MGI:109583) for Thcir3. These genes are likely to play a role in modulating initial response to THC based on location within modulatory QTL, putative functional sequence variants between B and D haplotypes that segregate among BXD progeny, evidence of genetic control of expression in brain tissue, and previously reported involvement in endocannabinoid/cannabinoid receptor signaling pathways.

*cM position of peak correlated region/marker

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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