Fbxl4 MGI Mouse Gene Detail - MGI:2140367 - F-box and leucine-rich repeat protein 4

Symbol

Fbxl4
Name

F-box and leucine-rich repeat protein 4
Synonyms

FBL4, FBL5

Feature Type

protein coding gene
IDs

MGI:2140367
NCBI Gene: 269514
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr4:22357543-22434091 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 9.69 cM
Mapping Data

1 experiment

SNPs within 2kb

1937 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2140367	protein coding gene	Chr4:22357526-22434091 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028096	protein coding gene	Chr4:19419720-19496210 (+)
A/J	MGP_AJ_G0028054	protein coding gene	Chr4:18846977-18920549 (+)
AKR/J	MGP_AKRJ_G0028019	protein coding gene	Chr4:19268622-19348181 (+)
BALB/cJ	MGP_BALBcJ_G0028065	protein coding gene	Chr4:18894608-18968521 (+)
C3H/HeJ	MGP_C3HHeJ_G0027795	protein coding gene	Chr4:19447654-19518068 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0028508	protein coding gene	Chr4:20184488-20259345 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025850	protein coding gene	Chr4:17469671-17543951 (+)
CAST/EiJ	MGP_CASTEiJ_G0027250	protein coding gene	Chr4:19241680-19320031 (+)
CBA/J	MGP_CBAJ_G0027768	protein coding gene	Chr4:20781839-20868386 (+)
DBA/2J	MGP_DBA2J_G0027911	protein coding gene	Chr4:18725378-18797608 (+)
FVB/NJ	MGP_FVBNJ_G0027877	protein coding gene	Chr4:18411111-18484365 (+)
LP/J	MGP_LPJ_G0028020	protein coding gene	Chr4:19512028-19589279 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027910	protein coding gene	Chr4:22004885-22084690 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028567	protein coding gene	Chr4:19221901-19299604 (+)
PWK/PhJ	MGP_PWKPhJ_G0026970	protein coding gene	Chr4:18552086-18627937 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0026799	protein coding gene	Chr4:19064600-19141259 (+)
WSB/EiJ	MGP_WSBEiJ_G0027327	protein coding gene	Chr4:19214029-19289028 (+)

Human Ortholog

FBXL4, F-box and leucine rich repeat protein 4

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

FBXL4, F-box and leucine rich repeat protein 4
Synonyms

FBL4, FBL5, MTDPS13
Links

HGNC:13601

NCBI Gene ID: 26235

neXtProt AC: NX_Q9UKA2

UniProt: Q9UKA2
Chr Location

6q16.1-q16.2; chr6:98868535-98948006 (-) GRCh38

MGI Vertebrate Homology

Fbxl4 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: FBXL4
Gene Tree

Fbxl4

Diseases

1 with human FBXL4 associations

				Human Disease	Mouse Models
				mitochondrial DNA depletion syndrome 13 IDs mitochondrial DNA depletion syndrome 13 DOID:0080131 OMIM:615471 ORDO:369897

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

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Phenotype Summary

11 phenotypes from 1 allele in 1 genetic background
8 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

12
Endonuclease-mediated

3
Gene trapped

6
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

31 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous knockout is mostly pre-weaning lethal but, in surviving mice around 1 year of age, increases mitochondrial turnover, causing weight loss and other morphological and also behavioral changes.

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All GO Annotations

8
GO References

5

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

706
cDNA Data

20
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase fbxl4

ZFIN fbxl4

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All Sequences

57
RefSeq

15
UniProt

5
CCDS

CCDS18004.1

Ensembl

ENSMUSG00000040410 (Evidence)
NCBI Gene

269514

			Length	Strain/Species	Flank
genomic	ENSMUSG00000040410	Ensembl Gene Model \| MGI Sequence Detail	76549	C57BL/6J	± kb
transcript	ENSMUST00000039234	Ensembl \| MGI Sequence Detail	2546	Not Applicable
polypeptide	ENSMUSP00000042219	Ensembl \| MGI Sequence Detail	621	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000032165 F-box/LRR-repeat protein 4

(term hierarchy)
InterPro Domains

IPR001810 F-box domain

IPR050648 F-box/Leucine-rich repeat

IPR036047 F-box-like domain superfamily

IPR006553 Leucine-rich repeat, cysteine-containing subtype

IPR032675 Leucine-rich repeat domain superfamily

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All nucleic 20

cDNA 20

Microarray probesets 3

Summaries

All 32

Developmental Gene Expression 1

Gene Ontology 5

Phenotypes 8
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:303084 Alsina D, et al., FBXL4 deficiency increases mitochondrial removal by autophagy. EMBO Mol Med. 2020 Jul 7;12(7):e11659

TSS for Fbxl4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr36630	Chr4:22357544-22357618 (+)	38 bp
Tssr36631	Chr4:22371136-22371144 (+)	13,597 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 11/19/2024 MGI 6.24