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
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr9:103302123-103357608 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 55.37 cM
Mapping Data

4 experiments

SNPs within 2kb

1984 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	Chr9:103302123-103357619 (-)
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

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

BFSP2, beaded filament structural protein 2
Synonyms

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

HGNC:1041

NCBI Gene ID: 8419

neXtProt AC: NX_Q13515

UniProt: Q13515
Chr Location

3q22.1; chr3:133400056-133475222 (+) GRCh38

MGI Vertebrate Homology

Bfsp2 stringent orthology
1 human;1 mouse;1 zebrafish
HCOP

vertebrate homology predictions: BFSP2
Gene Tree

Bfsp2

Diseases

2 with human BFSP2 associations

				Human Disease	Mouse Models
				cataract IDs cataract DOID:83 ICD10CM:H26 ICD9CM:366.8 OMIM:601371 OMIM:PS116200 UMLS_CUI:C0029531
				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
24 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
Gene trapped

3
Spontaneous

1
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

29 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

13

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

718
Tissues

5
cDNA Data

18
Literature Summary

11

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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All Sequences

53
RefSeq

12
UniProt

2
CCDS

CCDS52903.1

Ensembl

ENSMUSG00000032556 (Evidence)
NCBI Gene

107993

			Length	Strain/Species	Flank
genomic	107993	NCBI Gene Model \| MGI Sequence Detail	55486	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

IPR002957 Keratin, type I
GlyGen

Q6NVD9 1 site, 1 N-linked glycan (1 site)

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All nucleic 22

Genomic 1

cDNA 18

Primer pair 3

Microarray probesets 4

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MGI:2143053

Summaries

All 60

Developmental Gene Expression 11

Gene Ontology 13

Phenotypes 24
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:342871 Xiang J, et al., ATF4 May Be Essential for Adaption of the Ocular Lens to Its Avascular Environment. Cells. 2023 Nov 16;12(22)

TSS for Bfsp2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr91215	Chr9:103357565-103357572 (-)	39 bp
Tssr91214	Chr9:103357535-103357547 (-)	67 bp
Tssr91213	Chr9:103357503-103357514 (-)	99 bp
Tssr91212	Chr9:103357465-103357468 (-)	141 bp
Tssr91211	Chr9:103357423-103357462 (-)	165 bp
Tssr91210	Chr9:103327091-103327119 (-)	30,503 bp
Tssr91209	Chr9:103326369-103326380 (-)	31,233 bp
Tssr91208	Chr9:103326352-103326367 (-)	31,248 bp
Tssr91207	Chr9:103326307-103326316 (-)	31,296 bp
Tssr91206	Chr9:103303637-103303650 (-)	53,964 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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