Ndufaf2 MGI Mouse Gene Detail - MGI:1922847 - NADH:ubiquinone oxidoreductase complex assembly factor 2

Symbol

Ndufaf2
Name

NADH:ubiquinone oxidoreductase complex assembly factor 2
Synonyms

1810058I14Rik, mimitin, Ndufa12l

Feature Type

protein coding gene
IDs

MGI:1922847
NCBI Gene: 75597
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr13:108189123-108295189 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 59.63 cM, cytoband D2.1
Mapping Data

3 experiments

SNPs within 2kb

3493 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1922847	protein coding gene	Chr13:108139249-108295189 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0020923	protein coding gene	Chr13:110337316-110453682 (-)
A/J	MGP_AJ_G0020872	protein coding gene	Chr13:105997151-106106287 (-)
AKR/J	MGP_AKRJ_G0020848	protein coding gene	Chr13:109210536-109316708 (-)
BALB/cJ	MGP_BALBcJ_G0020873	protein coding gene	Chr13:106717951-106826199 (-)
C3H/HeJ	MGP_C3HHeJ_G0020662	protein coding gene	Chr13:108987783-109100766 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0021308	protein coding gene	Chr13:113653430-113766278 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018877	protein coding gene	Chr13:101423995-101582300 (-)
CAST/EiJ	MGP_CASTEiJ_G0020181	protein coding gene	Chr13:108509909-108628534 (-)
CBA/J	MGP_CBAJ_G0020624	protein coding gene	Chr13:118036786-118163149 (-)
DBA/2J	MGP_DBA2J_G0020747	protein coding gene	Chr13:105760903-105867648 (-)
FVB/NJ	MGP_FVBNJ_G0020730	protein coding gene	Chr13:104410102-104516615 (-)
LP/J	MGP_LPJ_G0020822	protein coding gene	Chr13:110405493-110518796 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020758	protein coding gene	Chr13:118445122-118562149 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021346	protein coding gene	Chr13:108668255-108780743 (-)
PWK/PhJ	MGP_PWKPhJ_G0019934	protein coding gene	Chr13:104445011-104553710 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0019756	protein coding gene	Chr13:104941322-105045899 (-)
WSB/EiJ	MGP_WSBEiJ_G0020239	protein coding gene	Chr13:109216160-109327284 (-)

Human Ortholog

NDUFAF2, NADH:ubiquinone oxidoreductase complex assembly factor 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NDUFAF2, NADH:ubiquinone oxidoreductase complex assembly factor 2
Synonyms

B17.2L, MC1DN10, mimitin, MMTN, NDUFA12L
Links

HGNC:28086

NCBI Gene ID: 91942

neXtProt AC: NX_Q8N183

UniProt: Q8N183
Chr Location

5q12.1; chr5:60945177-61154531 (+) GRCh38

MGI Vertebrate Homology

Ndufaf2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NDUFAF2
Gene Tree

Ndufaf2

Diseases

1 with human NDUFAF2 associations

				Human Disease	Mouse Models
				nuclear type mitochondrial complex I deficiency 10 IDs nuclear type mitochondrial complex I deficiency 10 DOID:0112075 OMIM:618233

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

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Phenotype Summary

2 phenotypes from 2 alleles in 2 genetic backgrounds
10 phenotype references

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

21
Endonuclease-mediated

1
Gene trapped

16
Targeted

4
Find Mice (IMSR)

26 strains or lines available

Mice homozygous for a knock-out allele exhibit impaired complex I mitochondrial activity.

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All GO Annotations

9
GO References

7

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

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

708
Tissues

1
cDNA Data

20
Literature Summary

1

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ndufaf2

ZFIN ndufaf2

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All Sequences

54
RefSeq

10
UniProt

5
CCDS

CCDS49357.1

Ensembl

ENSMUSG00000068184 (Evidence)
NCBI Gene

75597

			Length	Strain/Species	Flank
genomic	75597	NCBI Gene Model \| MGI Sequence Detail	106067	C57BL/6J	± kb
transcript	NM_001360140	RefSeq \| MGI Sequence Detail	744	C57BL/6
polypeptide	Q59J78	UniProt \| EBI \| MGI Sequence Detail	168	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000011082 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2

(term hierarchy)
PDB

8CA5
InterPro Domains

IPR052618 Complex I NDUFA12 subunit

IPR007763 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12
GlyGen

Q59J78 1 site, 1 O-linked glycan (1 site)

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All nucleic 21

cDNA 20

Primer pair 1

Microarray probesets 3

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MGI:2145529

Summaries

All 42

Developmental Gene Expression 1

Gene Ontology 7

Phenotypes 10
Earliest

J:1921 Timsit SG, et al., DM-20 mRNA is expressed during the embryonic development of the nervous system of the mouse. J Neurochem. 1992 Mar;58(3):1172-5
Latest

J:329220 Chen Y, et al., Hnrnpk maintains chondrocytes survival and function during growth plate development via regulating Hif1alpha-glycolysis axis. Cell Death Dis. 2022 Sep 20;13(9):803

TSS for Ndufaf2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr123996	Chr13:108295118-108295164 (-)	48 bp

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24