bscl2 BSCL2 lipid droplet biogenesis associated, seipin [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: bscl2provided by ZNC
Official Full Name: BSCL2 lipid droplet biogenesis associated, seipinprovided by ZNC
Primary source: ZFIN:ZDB-GENE-051113-140
See related: Ensembl:ENSDARG00000037008 AllianceGenome:ZFIN:ZDB-GENE-051113-140
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:123260
Summary: Predicted to be involved in lipid droplet organization and lipid storage. Predicted to act upstream of or within lipid metabolic process. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be integral component of membrane. Predicted to be integral component of endoplasmic reticulum membrane. Is expressed in brain and skeletal muscle. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 2; hereditary spastic paraplegia; hereditary spastic paraplegia 17; and lipodystrophy. Orthologous to human BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin). [provided by Alliance of Genome Resources, Apr 2022]
Annotation information: Annotation category: partial on reference assembly
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 21

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	21	NC_007132.7 (26683321..26691959, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	21	NC_007132.6 (26646626..26655264, complement)

Chromosome 21 - NC_007132.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in lipid droplet formation	IEA Inferred from Electronic Annotation more info
involved_in lipid droplet organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in lipid storage	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lipid storage	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: seipin

Names: Berardinelli-Seip congenital lipodystrophy 2 (seipin); Bernardinelli-Seip congenital lipodystrophy 2 (seipin)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.