Ngef MGI Mouse Gene Detail - MGI:1858414 - neuronal guanine nucleotide exchange factor

Symbol

Ngef
Name

neuronal guanine nucleotide exchange factor
Synonyms

ephexin, Tims2

Feature Type

protein coding gene
IDs

MGI:1858414
NCBI Gene: 53972
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr1:87404556-87501592 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 44.42 cM
Mapping Data

2 experiments

SNPs within 2kb

2135 from dbSNP Build 142
Strain Annotations

18
PCR

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1858414	protein coding gene	Chr1:87404551-87501661 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016266	protein coding gene	Chr1:88836740-88942519 (-)
A/J	MGP_AJ_G0016247	protein coding gene	Chr1:85508590-85606274 (-)
AKR/J	MGP_AKRJ_G0016208	protein coding gene	Chr1:88030741-88132747 (-)
BALB/cJ	MGP_BALBcJ_G0016204	protein coding gene	Chr1:85626143-85726581 (-)
C3H/HeJ	MGP_C3HHeJ_G0016032	protein coding gene	Chr1:88289811-88395577 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0016660	protein coding gene	Chr1:92149776-92243786 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014382	protein coding gene	Chr1:79959301-80055463 (-)
CAST/EiJ	MGP_CASTEiJ_G0015617	protein coding gene	Chr1:87507856-87607356 (-)
CBA/J	MGP_CBAJ_G0016008	protein coding gene	Chr1:95073019-95183335 (-)
DBA/2J	MGP_DBA2J_G0016111	protein coding gene	Chr1:84808389-84905581 (-)
FVB/NJ	MGP_FVBNJ_G0016110	protein coding gene	Chr1:83870071-83966443 (-)
LP/J	MGP_LPJ_G0016182	protein coding gene	Chr1:89898217-89991099 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016136	protein coding gene	Chr1:98351183-98456305 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016703	protein coding gene	Chr1:88142499-88244091 (-)
PWK/PhJ	MGP_PWKPhJ_G0015404	protein coding gene	Chr1:84109408-84199660 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015184	protein coding gene	Chr1:87059772-87152112 (-)
WSB/EiJ	MGP_WSBEiJ_G0015681	protein coding gene	Chr1:87815169-87917353 (-)

Human Ortholog

NGEF, neuronal guanine nucleotide exchange factor

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NGEF, neuronal guanine nucleotide exchange factor
Synonyms

ARHGEF27, EPHEXIN
Links

HGNC:7807

NCBI Gene ID: 25791

neXtProt AC: NX_Q8N5V2

UniProt: Q8N5V2
Chr Location

2q37.1; chr2:232878701-233013256 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: NGEF
Gene Tree

Ngef

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
9 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

7
Chemically induced (other)

1
Endonuclease-mediated

2
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Ngef
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

46 strains or lines available

Mice homozygous for a knock-out allele are viable and fertile and show no overt axonal phenotype; however, cultured retinal ganglion cells display defects in axonal outgrowth and ephrin-induced growth cone collapse.

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All GO Annotations

19
GO References

6

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

758
Tissues

35
cDNA Data

31
Literature Summary

12

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

GEISHA NGEF

Xenbase ngef

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All Sequences

53
RefSeq

8
UniProt

3
CCDS

CCDS48306.1, CCDS48307.1

Ensembl

ENSMUSG00000026259 (Evidence)
NCBI Gene

53972

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026259	Ensembl Gene Model \| MGI Sequence Detail	97037	C57BL/6J	± kb
transcript	ENSMUST00000068681	Ensembl \| MGI Sequence Detail	3109	Not Applicable
polypeptide	ENSMUSP00000066894	Ensembl \| MGI Sequence Detail	710	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000011193 ephexin-1

(term hierarchy)
InterPro Domains

IPR000219 Dbl homology (DH) domain

IPR035899 Dbl homology (DH) domain superfamily

IPR035635 Ephexin-1, SH3 domain

IPR047271 Ephexin-like

IPR047270 Ephexin-like, PH domain

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily
GlyGen

Q8CHT1 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 40

cDNA 32

Primer pair 7

Other 1

Microarray probesets 3

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MGI:1202845

Summaries

All 46

Developmental Gene Expression 12

Gene Ontology 6

Phenotypes 9
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:325730 Ahuja N, et al., Endothelial Cyp26b1 restrains murine heart valve growth during development. Dev Biol. 2022 Jun;486:81-95

TSS for Ngef:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr12858	Chr1:87501627-87501656 (-)	-50 bp
Tssr12857	Chr1:87501547-87501593 (-)	22 bp
Tssr12856	Chr1:87438270-87438306 (-)	63,304 bp
Tssr12855	Chr1:87438028-87438095 (-)	63,530 bp
Tssr12854	Chr1:87438005-87438016 (-)	63,581 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 12/10/2024 MGI 6.24