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

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
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr9:103424924-103480405 bp, - strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 55.37 cM
Mapping Data

4 experiments

SNPs within 2kb

265 from dbSNP Build 142
Strain Annotations

18
PCR

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1333828	protein coding gene	Chr9:103424924-103480420 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0035200	protein coding gene	Chr9:105051626-105106243 (-)
A/J	MGP_AJ_G0035180	protein coding gene	Chr9:101265552-101324740 (-)
AKR/J	MGP_AKRJ_G0035112	protein coding gene	Chr9:103778602-103838858 (-)
BALB/cJ	MGP_BALBcJ_G0035173	protein coding gene	Chr9:100975096-101033146 (-)
C3H/HeJ	MGP_C3HHeJ_G0034883	protein coding gene	Chr9:104167265-104226652 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0035693	protein coding gene	Chr9:107967572-108030729 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032591	protein coding gene	Chr9:98846199-98904750 (-)
CAST/EiJ	MGP_CASTEiJ_G0034195	protein coding gene	Chr9:104018686-104081748 (-)
CBA/J	MGP_CBAJ_G0034852	protein coding gene	Chr9:111733531-111789560 (-)
DBA/2J	MGP_DBA2J_G0035013	protein coding gene	Chr9:100756610-100812535 (-)
FVB/NJ	MGP_FVBNJ_G0034961	protein coding gene	Chr9:99564594-99617004 (-)
LP/J	MGP_LPJ_G0035089	protein coding gene	Chr9:105257205-105314396 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035000	protein coding gene	Chr9:113524489-113582809 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035715	protein coding gene	Chr9:104021013-104080736 (-)
PWK/PhJ	MGP_PWKPhJ_G0033902	protein coding gene	Chr9:101017236-101074740 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0033737	protein coding gene	Chr9:104070444-104131346 (-)
WSB/EiJ	MGP_WSBEiJ_G0034315	protein coding gene	Chr9:103906165-103966010 (-)

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
21 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	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)

6 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mutations at this locus result in eye abnormalities.

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All GO Annotations

17
GO References

12

External Resources

FuncBase

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

639
Tissues

3
cDNA Data

18
Literature Summary

10

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

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

51
RefSeq

10
UniProt

2
CCDS

CCDS52903.1
UniGene

335403

Ensembl

ENSMUSG00000032556 (Evidence)
NCBI Gene

107993

			Length	Strain/Species	Flank
genomic	107993	NCBI Gene Model \| MGI Sequence Detail	55482	C57BL/6J	± kb
transcript	NM_001002896	RefSeq \| MGI Sequence Detail	1490	C57BL/6
polypeptide	Q6NVD9	UniProt \| EBI \| MGI Sequence Detail	416	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000004734 phakinin

(term hierarchy)
InterPro Domains

IPR039008 Intermediate filament, rod domain

IPR042180 Intermediate filament, rod domain, coil 1B

IPR002957 Keratin, type I

IPR027694 Phakinin

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All nucleic 20

Genomic 1

cDNA 18

Primer pair 1

Microarray probesets 4

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MGI:2143053

Summaries

All 55

Developmental Gene Expression 10

Gene Ontology 12

Phenotypes 21
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:276474 Varadaraj K, et al., C-Terminal End of Aquaporin 0 Regulates Lens Gap Junction Channel Function. Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2525-2531

TSS for Bfsp2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr91215	Chr9:103480366-103480373 (-)	35 bp
Tssr91214	Chr9:103480336-103480348 (-)	63 bp
Tssr91213	Chr9:103480304-103480315 (-)	95 bp
Tssr91212	Chr9:103480266-103480269 (-)	137 bp
Tssr91211	Chr9:103480224-103480263 (-)	161 bp
Tssr91210	Chr9:103449892-103449920 (-)	30,499 bp
Tssr91209	Chr9:103449170-103449181 (-)	31,229 bp
Tssr91208	Chr9:103449153-103449168 (-)	31,244 bp
Tssr91207	Chr9:103449108-103449117 (-)	31,292 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 & Copyright Notice Send questions and comments to User Support.	last database update 06/30/2020 MGI 6.15