Gene: BFSP2 ENSG00000170819

Description

beaded filament structural protein 2, phakinin [Source:HGNC Symbol;Acc:1041]

Gene Synonyms

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

Location

GRCh37:CM000665.1

About this gene

This gene has 6 transcripts (splice variants), 2 paralogues and is associated with 8 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000302334.2	BFSP2-001	1558	415aa	ENSP00000304987.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS33859	Q13515	NM_003571.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000511434.1	BFSP2-004	660	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000510039.1	BFSP2-006	643	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000513441.1	BFSP2-005	521	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000511140.1	BFSP2-002	374	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000503047.1	BFSP2-003	462	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary