Bfsp2 MGI Mouse Gene Detail - MGI:1333828 - beaded filament structural protein 2, phakinin

Bfsp2 Gene Detail

Symbol

Bfsp2
Name

beaded filament structural protein 2, phakinin
Synonyms

CP49

Feature Type

protein coding gene
IDs

MGI:1333828
NCBI Gene: 107993
Gene Overview

MyGene.info: BFSP2

Sequence Map

Chr9:103424920-103480420 bp, - strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

55501 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 55.37 cM
Mapping Data

4 experiments

Human Ortholog

BFSP2, beaded filament structural protein 2

Vertebrate Orthologs

10

Human Ortholog

BFSP2, beaded filament structural protein 2
Orthology source: HomoloGene, HGNC
Synonyms

CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN
Links

HGNC:1041

NCBI Gene ID: 8419

neXtProt AC: NX_Q13515

UniProt: Q13515
Chr Location

3q22.1; chr3:133397882-133475212 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 20791
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: BFSP2
Gene Tree

Bfsp2

Diseases

1 with human BFSP2 associations

				Human Disease	Mouse Models
				cataract 12 multiple types IDs cataract 12 multiple types DOID:0110239 ICD10CM:Q12.0 OMIM:611597

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

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Phenotype Summary

5 phenotypes from 3 alleles in 3 genetic backgrounds
13 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

6
Gene trapped

1
Spontaneous

1
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

12 strains or lines available

Mutations at this locus result in eye abnormalities.

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All GO Annotations

16
GO References

11

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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	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

8
Tissues

3
cDNA Data

18
Literature Summary

10

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase bfsp2

ZFIN bfsp2

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Bfsp2 interacts with 36 markers (Mir22, Mir30c-1, Mir30c-2, ...) View All

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All Sequences

29
RefSeq

2
UniProt

2
CCDS

CCDS52903.1
UniGene

335403

			Length	Strain/Species	Flank
genomic	OTTMUSG00000032745	VEGA Gene Model \| MGI Sequence Detail	55501	C57BL/6J	± kb
transcript	OTTMUST00000081487	VEGA \| MGI Sequence Detail	1666	Not Applicable
polypeptide	OTTMUSP00000043612	VEGA \| MGI Sequence Detail	416	Not Applicable

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SNPs within 2kb

265 from dbSNP Build 142

PCR

1

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UniProt

2 Sequences
Protein Ontology

PR:000004734 phakinin

(term hierarchy)
InterPro Domains

IPR001664 Intermediate filament protein

IPR002957 Keratin, type I

IPR027694 Phakinin

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All nucleic 19

cDNA 18

Primer pair 1

Microarray probesets 4

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MGI:2143053

Summaries

All 46

Developmental Gene Expression 10

Gene Ontology 11

Phenotypes 13
Earliest

J:53431 Wigle JT, et al., Prox1 function is crucial for mouse lens-fibre elongation. Nat Genet. 1999 Mar;21(3):318-22
Latest

J:228460 Sindhu Kumari S, et al., Role of Aquaporin 0 in lens biomechanics. Biochem Biophys Res Commun. 2015 Jul 10;462(4):339-45

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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