Fbln5 MGI Mouse Gene Detail - MGI:1346091

Symbol

Fbln5
Name

fibulin 5
Synonyms

EVEC

Feature Type

protein coding gene
IDs

MGI:1346091
NCBI Gene: 23876
Alliance

gene page
Transcription Start Sites

16 TSS

Sequence Map

Chr12:101712824-101785314 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 51.29 cM, cytoband F1
Mapping Data

2 experiments

SNPs within 2kb

2024 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1346091	protein coding gene	Chr12:101712820-101785541 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0020025	protein coding gene	Chr12:103341464-103417044 (-)
A/J	MGP_AJ_G0019981	protein coding gene	Chr12:99373196-99447217 (-)
AKR/J	MGP_AKRJ_G0019957	protein coding gene	Chr12:102200244-102280659 (-)
BALB/cJ	MGP_BALBcJ_G0019967	protein coding gene	Chr12:99719469-99794959 (-)
C3H/HeJ	MGP_C3HHeJ_G0019769	protein coding gene	Chr12:102650591-102724535 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0020416	protein coding gene	Chr12:106579559-106655832 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018029	protein coding gene	Chr12:96412634-96484521 (-)
CAST/EiJ	MGP_CASTEiJ_G0019315	protein coding gene	Chr12:97474402-97551269 (-)
CBA/J	MGP_CBAJ_G0019741	protein coding gene	Chr12:110506644-110589362 (-)
DBA/2J	MGP_DBA2J_G0019852	protein coding gene	Chr12:98895985-98972471 (-)
FVB/NJ	MGP_FVBNJ_G0019841	protein coding gene	Chr12:97616631-97689880 (-)
LP/J	MGP_LPJ_G0019928	protein coding gene	Chr12:103207308-103279438 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019881	protein coding gene	Chr12:114015930-114096140 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020445	protein coding gene	Chr12:101711544-101785431 (-)
PWK/PhJ	MGP_PWKPhJ_G0019078	protein coding gene	Chr12:93456249-93532041 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0018874	protein coding gene	Chr12:95882244-95961524 (-)
WSB/EiJ	MGP_WSBEiJ_G0019369	protein coding gene	Chr12:102590445-102664610 (-)

Human Ortholog

FBLN5, fibulin 5

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

FBLN5, fibulin 5
Synonyms

ADCL2, ARCL1A, ARMD3, CMT1H, DANCE, EVEC, FIBL-5, HNARMD, UP50
Links

HGNC:3602

NCBI Gene ID: 10516

neXtProt AC: NX_Q9UBX5

UniProt: Q9UBX5
Chr Location

14q32.12; chr14:91869411-91947987 (-) GRCh38

MGI Vertebrate Homology

Fbln5 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: FBLN5
Gene Tree

Fbln5

Diseases

1 with Fbln5 mouse models; 5 with human FBLN5 associations

Human Disease

Mouse Models

cutis laxa

IDs

View 2 models

age related macular degeneration

IDs

autosomal dominant cutis laxa 2

IDs

autosomal recessive cutis laxa type IA

IDs

Charcot-Marie-Tooth disease

IDs

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

Mutations/Alleles

2 with disease annotations

References

2 with disease annotations

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Phenotype Summary

24 phenotypes from 3 alleles in 3 genetic backgrounds
2 images
30 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

8
Chemically induced (other)

1
Endonuclease-mediated

4
Targeted

3
Genomic Mutations

1 involving Fbln5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

37 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous inactivation of this locus impairs elastic fiber development. Mutant mice exhibit loose skin, lung abnormalities leading to emphysema, and cardiovascular defects affecting the aorta.

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All GO Annotations

29
GO References

17

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

999
Tissues

75
cDNA Data

13
Literature Summary

17

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase fbln5

ZFIN fbln5

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All Sequences

94
RefSeq

29
UniProt

2
CCDS

CCDS36525.1, CCDS88391.1

Ensembl

ENSMUSG00000021186 (Evidence)
NCBI Gene

23876

			Length	Strain/Species	Flank
genomic	ENSMUSG00000021186	Ensembl Gene Model \| MGI Sequence Detail	72491	C57BL/6J	± kb
transcript	ENSMUST00000222587	Ensembl \| MGI Sequence Detail	2371	Not Applicable
polypeptide	ENSMUSP00000152680	Ensembl \| MGI Sequence Detail	461	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000007360 fibulin-5

(term hierarchy)
InterPro Domains

IPR026823 Complement Clr-like EGF domain

IPR018097 EGF-like calcium-binding, conserved site

IPR001881 EGF-like calcium-binding domain

IPR000742 EGF-like domain

IPR000152 EGF-type aspartate/asparagine hydroxylation site

IPR050751 Extracellular matrix structural protein

IPR009030 Growth factor receptor cysteine-rich domain superfamily

IPR049883 NOTCH1 EGF-like calcium-binding domain
GlyGen

Q9WVH9 2 sites, 3 N-linked glycans (1 site)

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All nucleic 15

cDNA 14

Primer pair 1

Microarray probesets 4

Summaries

All 84

Developmental Gene Expression 17

Diseases 2

Gene Ontology 17

Phenotypes 30
Earliest

J:56624 Nakamura T, et al., DANCE, a novel secreted RGD protein expressed in developing, atherosclerotic, and balloon-injured arteries. J Biol Chem. 1999 Aug 6;274(32):22476-83
Latest

J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Fbln5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr117376	Chr12:101785367-101785372 (-)	-56 bp
Tssr117375	Chr12:101785340-101785365 (-)	-39 bp
Tssr117374	Chr12:101785323-101785337 (-)	-16 bp
Tssr117373	Chr12:101785307-101785320 (-)	0 bp
Tssr117372	Chr12:101785282-101785293 (-)	26 bp
Tssr117371	Chr12:101785255-101785266 (-)	53 bp
Tssr117370	Chr12:101785213-101785222 (-)	96 bp
Tssr117369	Chr12:101785202-101785211 (-)	107 bp
Tssr117368	Chr12:101785164-101785179 (-)	142 bp
Tssr117367	Chr12:101785133-101785155 (-)	170 bp
Tssr117366	Chr12:101785114-101785125 (-)	194 bp
Tssr117365	Chr12:101785060-101785071 (-)	248 bp
Tssr117364	Chr12:101784774-101784799 (-)	527 bp
Tssr117363	Chr12:101784736-101784747 (-)	572 bp
Tssr117362	Chr12:101776153-101776166 (-)	9,154 bp
Tssr117361	Chr12:101776112-101776124 (-)	9,196 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)
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