Nefm MGI Mouse Gene Detail - MGI:97314 - neurofilament, medium polypeptide

Symbol

Nefm
Name

neurofilament, medium polypeptide
Synonyms

Nef3, neurofilament-M, NF160, NF165, Nfm, NF-M

Feature Type

protein coding gene
IDs

MGI:97314
NCBI Gene: 18040
Alliance

gene page
Transcription Start Sites

20 TSS

Sequence Map

Chr14:68356994-68362453 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 14, 35.46 cM
Mapping Data

6 experiments

SNPs within 2kb

158 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97314	protein coding gene	Chr14:68320039-68362453 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0021508	protein coding gene	Chr14:62833488-62879487 (-)
A/J	MGP_AJ_G0021467	protein coding gene	Chr14:61330160-61378376 (-)
AKR/J	MGP_AKRJ_G0021443	protein coding gene	Chr14:63415635-63460067 (-)
BALB/cJ	MGP_BALBcJ_G0021473	protein coding gene	Chr14:61319731-61362908 (-)
C3H/HeJ	MGP_C3HHeJ_G0021250	protein coding gene	Chr14:63146448-63192396 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0021912	protein coding gene	Chr14:65689013-65738088 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019452	protein coding gene	Chr14:59229996-59274111 (-)
CAST/EiJ	MGP_CASTEiJ_G0020767	protein coding gene	Chr14:59658391-59701635 (-)
CBA/J	MGP_CBAJ_G0021217	protein coding gene	Chr14:67713084-67764060 (-)
DBA/2J	MGP_DBA2J_G0021340	protein coding gene	Chr14:60956786-60998940 (-)
FVB/NJ	MGP_FVBNJ_G0021319	protein coding gene	Chr14:60366287-60408727 (-)
LP/J	MGP_LPJ_G0021415	protein coding gene	Chr14:63898104-63945896 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021348	protein coding gene	Chr14:66666680-66717511 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021935	protein coding gene	Chr14:62652045-62698772 (-)
PWK/PhJ	MGP_PWKPhJ_G0020511	protein coding gene	Chr14:57730301-57773154 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0020344	protein coding gene	Chr14:58599823-58641590 (-)
WSB/EiJ	MGP_WSBEiJ_G0020820	protein coding gene	Chr14:62976757-63021911 (-)

Human Ortholog

NEFM, neurofilament medium chain

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NEFM, neurofilament medium chain
Synonyms

NEF3, NF-M, NFM
Links

HGNC:7734

NCBI Gene ID: 4741

neXtProt AC: NX_P07197

UniProt: P07197
Chr Location

8p21.2; chr8:24913758-24919098 (+) GRCh38

MGI Vertebrate Homology

Nefm stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: NEFM
Gene Tree

Nefm

Diseases

2 with human NEFM associations

				Human Disease	Mouse Models
				Alzheimer's disease IDs Alzheimer's disease DOID:10652 ICD10CM:G30 ICD9CM:331.0 KEGG:05010 MESH:D000544 NCI:C2866 UMLS_CUI:C0002395
				human immunodeficiency virus infectious disease IDs human immunodeficiency virus infectious disease DOID:526 ICD10CM:B20 ICD9CM:042 ICD9CM:042-042.99 MESH:D015658 NCI:C3108 UMLS_CUI:C0019693

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

less

Phenotype Summary

13 phenotypes from 4 alleles in 4 genetic backgrounds
13 phenotypes from multigenic genotypes
4 images
23 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

9
Chemically induced (other)

1
Targeted

8
Genomic Mutations

1 involving Nefm
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

28 strains or lines available

Mice homozygous for a knock-out allele exhibit reduced axon diameter.

less

All GO Annotations

37
GO References

22

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.

less

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

2877
Tissues

464
cDNA Data

17
Literature Summary

834

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase nefm

ZFIN nefma, nefmb

less

All Sequences

46
RefSeq

2
UniProt

3
CCDS

CCDS27233.1

Ensembl

ENSMUSG00000022054 (Evidence)
NCBI Gene

18040

			Length	Strain/Species	Flank
genomic	18040	NCBI Gene Model \| MGI Sequence Detail	5460	C57BL/6J	± kb
transcript	NM_008691	RefSeq \| MGI Sequence Detail	3244	C57BL/6
polypeptide	P08553	UniProt \| EBI \| MGI Sequence Detail	848	Not Applicable

less

UniProt

3 Sequences
Protein Ontology

PR:000011120 neurofilament medium polypeptide

(term hierarchy)
InterPro Domains

IPR006821 Intermediate filament head, DNA-binding domain

IPR018039 Intermediate filament protein, conserved site

IPR039008 Intermediate filament, rod domain

IPR050405 Intermediate filament structural protein

IPR002957 Keratin, type I
GlyGen

P08553 12 sites, 1 O-linked glycan (12 sites)

less

All nucleic 31

Genomic 4

cDNA 19

Primer pair 4

Other 4

Microarray probesets 5

less

MGD-MRK-12832

Summaries

All 926

Developmental Gene Expression 834

Gene Ontology 22

Phenotypes 23
Earliest

J:11960 Julien JP, et al., Cloning and developmental expression of the murine neurofilament gene family. Brain Res Mol Brain Res. 1986 Dec;387(3):243-50
Latest

J:358594 Curran BM, et al., Multiple guidance mechanisms control axon growth to generate precise T-shaped bifurcation during dorsal funiculus development in the spinal cord. Elife. 2024 Aug 19;13

TSS for Nefm:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr129422	Chr14:68362285-68362305 (-)	158 bp
Tssr129421	Chr14:68361943-68361948 (-)	507 bp
Tssr129420	Chr14:68360335-68360362 (-)	2,104 bp
Tssr129419	Chr14:68358810-68358822 (-)	3,637 bp
Tssr129418	Chr14:68358768-68358783 (-)	3,677 bp
Tssr129417	Chr14:68358593-68358607 (-)	3,853 bp
Tssr129416	Chr14:68358530-68358539 (-)	3,918 bp
Tssr129415	Chr14:68358515-68358524 (-)	3,933 bp
Tssr129414	Chr14:68358422-68358434 (-)	4,025 bp
Tssr129413	Chr14:68358395-68358409 (-)	4,051 bp
Tssr129412	Chr14:68358338-68358349 (-)	4,109 bp
Tssr129411	Chr14:68358326-68358337 (-)	4,121 bp
Tssr129410	Chr14:68358264-68358291 (-)	4,175 bp
Tssr129409	Chr14:68358212-68358258 (-)	4,218 bp
Tssr129408	Chr14:68358158-68358176 (-)	4,286 bp
Tssr129407	Chr14:68357990-68358004 (-)	4,456 bp
Tssr129406	Chr14:68357937-68357948 (-)	4,510 bp
Tssr129405	Chr14:68357869-68357880 (-)	4,578 bp
Tssr129404	Chr14:68357737-68357760 (-)	4,704 bp
Tssr129403	Chr14:68357637-68357640 (-)	4,814 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