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Symbol report for BFSP2

Stable symbol

HGNC data for BFSP2

Approved symbol
BFSP2
Approved name

beaded filament structural protein 2

Locus type
gene with protein product
HGNC ID
HGNC:1041
Symbol status
Approved
Previous names
beaded filament structural protein 2, phakinin
Alias symbols
CP47
CP49
LIFL-L
phakinin
Chromosomal location
3q22.1
Gene groups
Gene resources for BFSP2
Ensembl
ENSG00000170819 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
8419 Curated
UCSC
uc003epn.3
Alliance of Genome Resources
HGNC:1041
Nucleotide resources for BFSP2
MANE Select
NM_003571.4
ENST00000302334.3
INSDC
U48224 Curated
ENAGenBankDDBJ
RefSeq
NM_003571
NCBI sequence viewer
CCDS
CCDS33859 Curated
Protein resources for BFSP2
UniProt/Swiss-Prot
Q13515
InterProPDBeReactome
AlphaFold
AF-Q13515-F1
Orthologs from selected species for BFSP2
Bos taurus
BFSP2 VGNC:26479 VGNC
Canis familiaris
BFSP2 VGNC:38441 VGNC
Equus caballus
BFSP2 VGNC:56716 VGNC
Felis catus
BFSP2 VGNC:60108 VGNC
Macaca mulatta
BFSP2 VGNC:70245 VGNC
Mus musculus
Bfsp2 MGI:1333828 Curated
Pan troglodytes
BFSP2 VGNC:6167 VGNC
Rattus norvegicus
Bfsp2 RGD:1591927
Sus scrofa
BFSP2 VGNC:85810 VGNC
Clinical resources for BFSP2
OMIM
603212
LSDB
Human Intermediate Filament Mutation Database Curated
GenCC
HGNC:1041
MedlinePlus
Search via BFSP2
DECIPHER
Search via BFSP2
ClinGen
Search via HGNC:1041
Genetic Testing Registry
Search via NCBI Gene ID 8419
ClinVar
Search via NCBI Gene ID 8419
dbVar
Search via NCBI Gene ID 8419
Orphanet
119034
Other resources for BFSP2
AmiGO
Search via Q13515
QuickGO
Search via Q13515
BioGPS
Search via NCBI Gene ID 8419
GeneCards
Search via HGNC:1041
Monarch
Search via HGNC:1041
WikiGenes
Search via NCBI Gene ID 8419
References for BFSP2