Mfap5 MGI Mouse Gene Detail - MGI:1354387 - microfibrillar associated protein 5

Symbol

Mfap5
Name

microfibrillar associated protein 5
Synonyms

MAGP-2

Feature Type

protein coding gene
IDs

MGI:1354387
NCBI Gene: 50530
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr6:122490543-122506249 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 57.61 cM
Mapping Data

2 experiments

SNPs within 2kb

127 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1354387	protein coding gene	Chr6:122482804-122506249 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0031227	protein coding gene	Chr6:125597289-125619950 (+)
A/J	MGP_AJ_G0031196	protein coding gene	Chr6:120843980-120867146 (+)
AKR/J	MGP_AKRJ_G0031125	protein coding gene	Chr6:124183295-124207367 (+)
BALB/cJ	MGP_BALBcJ_G0031205	protein coding gene	Chr6:120527810-120551642 (+)
C3H/HeJ	MGP_C3HHeJ_G0030924	protein coding gene	Chr6:124130245-124154480 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0031664	protein coding gene	Chr6:128879881-128902934 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028823	protein coding gene	Chr6:117453979-117477095 (+)
CAST/EiJ	MGP_CASTEiJ_G0030314	protein coding gene	Chr6:124397262-124422728 (+)
CBA/J	MGP_CBAJ_G0030888	protein coding gene	Chr6:133914075-133940834 (+)
DBA/2J	MGP_DBA2J_G0031044	protein coding gene	Chr6:119757683-119782607 (+)
FVB/NJ	MGP_FVBNJ_G0030996	protein coding gene	Chr6:118706289-118730736 (+)
LP/J	MGP_LPJ_G0031124	protein coding gene	Chr6:125749279-125771992 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0031031	protein coding gene	Chr6:137888447-137912816 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031694	protein coding gene	Chr6:124076029-124099767 (+)
PWK/PhJ	MGP_PWKPhJ_G0030028	protein coding gene	Chr6:118593004-118616291 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029855	protein coding gene	Chr6:122204999-122228546 (+)
WSB/EiJ	MGP_WSBEiJ_G0030396	protein coding gene	Chr6:124382067-124406132 (+)

Human Ortholog

MFAP5, microfibril associated protein 5

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MFAP5, microfibril associated protein 5
Synonyms

AAT9, MAGP2, MAGP-2, MFAP-5, MP25
Links

HGNC:29673

NCBI Gene ID: 8076

neXtProt AC: NX_Q13361

UniProt: Q13361
Chr Location

12p13.31; chr12:8637346-8662888 (-) GRCh38

MGI Vertebrate Homology

Mfap5 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: MFAP5
Gene Tree

Mfap5

Diseases

1 with human MFAP5 associations

				Human Disease	Mouse Models
				thoracic aortic aneurysm IDs thoracic aortic aneurysm DOID:14004 EFO:0004282 MESH:D017545 NCI:C27001 OMIM:132900 OMIM:607086 OMIM:607087 OMIM:611788 OMIM:613780 OMIM:615436 ORDO:91387 UMLS_CUI:C0162872

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

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
11 phenotypes from multigenic genotypes
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

15
Endonuclease-mediated

3
Gene trapped

11
Targeted

1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

16 strains or lines available

Mice homozygous for a knock-out allele exhibit decreased circulating neutrophils.

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All GO Annotations

14
GO References

9

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	non-membrane-bounded 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

778
Tissues

26
cDNA Data

52
Literature Summary

8

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

53
RefSeq

4
UniProt

6
CCDS

CCDS20496.1, CCDS85155.1

Ensembl

ENSMUSG00000030116 (Evidence)
NCBI Gene

50530

			Length	Strain/Species	Flank
genomic	50530	NCBI Gene Model \| MGI Sequence Detail	15707	C57BL/6J	± kb
transcript	NM_015776	RefSeq \| MGI Sequence Detail	1505	C57BL/6
polypeptide	Q9QZJ6	UniProt \| EBI \| MGI Sequence Detail	164	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000010365 microfibrillar-associated protein 5

(term hierarchy)
InterPro Domains

IPR008673 Microfibril-associated glycoprotein

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All nucleic 52

cDNA 52

Microarray probesets 6

Summaries

All 43

Developmental Gene Expression 8

Gene Ontology 9

Phenotypes 8
Earliest

J:60689 Frankfater C, et al., Organization of the mouse microfibril-associated glycoprotein-2 (MAGP-2) gene. Mamm Genome. 2000 Mar;11(3):191-5
Latest

J:341969 Jacob T, et al., Molecular and spatial landmarks of early mouse skin development. Dev Cell. 2023 Oct 23;58(20):2140-2162.e5

TSS for Mfap5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr58673	Chr6:122490329-122490352 (+)	-202 bp
Tssr58674	Chr6:122490378-122490418 (+)	-145 bp
Tssr1997	Chr6:122490534-122490539 (+)	-6 bp
Tssr58675	Chr6:122490550-122490559 (+)	12 bp
Tssr58676	Chr6:122490577-122490600 (+)	46 bp
Tssr58677	Chr6:122490602-122490627 (+)	72 bp
Tssr58678	Chr6:122490636-122490647 (+)	99 bp
Tssr58679	Chr6:122498791-122498806 (+)	8,256 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 04/23/2024 MGI 6.23