BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) [Homo sapiens] - Gene

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Summary

Official Symbol: BSCL2provided by HGNC
Official Full Name: Berardinelli-Seip congenital lipodystrophy 2 (seipin)provided by HGNC
Primary source: HGNC:15832
See related: Ensembl:ENSG00000168000; HPRD:05858; MIM:606158; Vega:OTTHUMG00000150624
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HMN5; SPG17; GNG3LG; MGC4694; FLJ16651
Summary: This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]

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Genomic context

Location :: 11q13

Sequence :: Chromosome: 11; NC_000011.9 (62457734..62477091, complement)

See BSCL2 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

the increased expression of seipin markedly reduced the mass of white adipose tissue and the size of adipocytes and lipid droplets
Title: Overexpression of a short human seipin/BSCL2 isoform in mouse adipose tissue results in mild lipodystrophy.
the biochemical characteristics of seipin and its mis-sense mutants
Title: Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis.
N88S seipin mutant transgenic mice develop motor neuron disease via endoplasmic reticulum stress.
Title: N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress.
Case Report: novel BSCL2 mutation in an Indian patient with congenital generalized lipodystrophy associated with normal intellectual ability.
Title: Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene.
DNA sequencing of BSCL2 was performed and a heterozygous N88S missense mutation in BSCL2 gene was detected in all three patients with distal hereditary motor neuropathy type V
Title: N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.
study of an Italian family with a Charcot-Marie-Tooth disease type 2 phenotype with pyramidal signs; in the 3 affected siblings an S90L mutation was revealed; confirms variability of phenotypes associated with Ser90Leu mutation
Title: Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.
Japanese CGL patients with BSCL2 mutations presented with severe insulin resistance, even during infancy, prior to the development of diabetes mellitus
Title: Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations.
This report suggests that a different type of distal hereditary motor neuropathy could exist within one family carrying N88S mutations in BSCL2.
Title: Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2.
These results expand the clinical spectrum of HMN and suggest a digenic inheritance of HMN in this family with a BSCL2 mutation and a chromosome 16 locus likely contributing to the phenotype.
Title: A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
BSCL2 gene mutations were found in the homozygous form in four Brazilian kindreds (c.412C>T c.464T>C, c.518-519insA, IVS5-2A>G), and in two kindreds compound mutations were found (c.1363C>T, c.424A>G).
Title: Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.

Submit: New GeneRIF Correction See all (35)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
Q96G97	Q9BZL3	C5orf62	HPRD	PubMed
Q96G97	Transmembrane protein 19	TMEM19	HPRD	PubMed
Q96G97	MDS032	USE1	HPRD	PubMed
BioGRID:117749	BioGRID:124436	C5orf62	BioGRID	PubMed	Two-hybrid
BioGRID:117749	BioGRID:107271	CANX	BioGRID	PubMed	Affinity Capture-Western
BioGRID:117749	BioGRID:120555	TMEM19	BioGRID	PubMed	Two-hybrid
BioGRID:117749	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:117749	BioGRID:120952	USE1	BioGRID	PubMed	Two-hybrid

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

Process	Evidence Code	Pubs
biological_process	ND No biological Data available more info
cell death	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
integral to endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: seipin

Names: seipin; Bernardinelli-Seip congenital lipodystrophy type 2 protein

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_008461.1 RefSeqGene

Range

4956..24313

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001122955.3 → NP_001116427.1 seipin isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

BC093048, BG699373, DB296305

Consensus CDS

CCDS44627.1

UniProtKB/TrEMBL

G3XAE4

UniProtKB/Swiss-Prot

Q96G97

Related

ENSP00000354032, OTTHUMP00000198004, ENST00000360796, OTTHUMT00000319182

Conserved Domains (1) summary

pfam06775
Location:101 – 307
Blast Score: 634

Seipin; Putative adipose-regulatory protein (Seipin)
NM_001130702.2 → NP_001124174.2 seipin isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 3) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK027524, DB296305

Consensus CDS

CCDS55769.1

UniProtKB/Swiss-Prot

Q96G97

Related

ENSP00000278893, OTTHUMP00000198009, ENST00000278893, OTTHUMT00000319187

Conserved Domains (1) summary

pfam06775
Location:37 – 224
Blast Score: 532

Seipin; Putative adipose-regulatory protein (Seipin)
NM_032667.6 → NP_116056.3 seipin isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate 5' exon and uses a downstream AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AK027524, BC041640, DB296305

Consensus CDS

CCDS8031.1

UniProtKB/Swiss-Prot

Q96G97

Related

ENSP00000384080, OTTHUMP00000198006, ENST00000407022, OTTHUMT00000319184

Conserved Domains (2) summary

pfam05395
Location:264 – 360
Blast Score: 83

DARPP-32; Protein phosphatase inhibitor 1/DARPP-32

pfam06775
Location:37 – 243
Blast Score: 616

Seipin; Putative adipose-regulatory protein (Seipin)

RNA

NR_037948.1 RNA Sequence

Description

Transcript Variant: This variant (4) differs at the 5' end, compared to variant 1. This variant (4) is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK315423, AP001458, BP370169, DB296305
NR_037949.1 RNA Sequence

Description

Transcript Variant: This variant (5) differs at the 5' end and uses an alternate splice site in an internal exon, compared to variant 1. This variant (5) is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AP001458, BC009866, BP370169, DB296305

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

62457734..62477091, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

58786515..58805891, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP001458.6 (97540..114612)	None
genomic	CH471076.1	EAW74070.1
		EAW74072.1
		EAW74073.1
		EAW74074.1
		EAW74075.1
		EAW74078.1
		EAW74080.1
		EAW74081.1
genomic	CQ783924.1	CAF86927.1
genomic	CS072299.1	CAI93437.1
mRNA	AF052149.1	None
mRNA	AK027524.1	BAB55175.1
mRNA	AK075317.1	BAC11543.1
mRNA	AK223606.1	BAD97326.1
mRNA	AK225029.1	None
mRNA	AK315423.1	None
mRNA	BC004911.2	AAH04911.1
mRNA	BC009866.2	None
mRNA	BC012140.1	AAH12140.1
mRNA	BC041640.1	AAH41640.1
mRNA	BC093048.1	AAH93048.1
mRNA	BG699373.1	None
mRNA	BM763152.1	None
mRNA	BP370169.1	None
mRNA	CD107822.1	None
mRNA	DB178846.1	None
mRNA	DB296305.1	None
other-genetic	DQ893483.2	ABM84409.1
other-genetic	EU176769.1	ABW03570.1