Tbio BSCL2 Seipin

Protein Summary

Description

Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the central regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid droplets maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopic lipid droplet formation in non-adipose tissues. 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]

Uniprot Accession IDs

• Q96G97
• G3XAE4
• Q567S1
• Q96SV1
• Q9BSQ0

Gene Name

• BSCL2

Ensembl ID

• ENST00000278893
• ENSP00000278893
• ENSG00000168000
• ENST00000360796
• ENSP00000354032
• ENST00000403550
• ENSP00000385561
• ENST00000407022
• ENSP00000384080
• ENST00000421906
• ENSP00000413209

Symbol

• HMN5
• PELD
• SPG17
• GNG3LG

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	0.97
kinase perturbation	0.88
phenotype	0.84
transcription factor	0.74
cellular component	0.73

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 246.35   (req: < 5)

Gene RIFs: 64   (req: <= 3)

Antibodies: 161   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 246.35   (req: >= 5)

Gene RIFs: 64   (req: > 3)

Antibodies: 161   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Expression Data (0 Tissues)

tutorial

No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

Find Targets by Sequence

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Related Tools (4)

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (125)

Explore Interacting Targets

1 – 10 of 125

• See Interactions on String-DB

DNAJC13

Tbio

Novelty:  0.03251995

p_int:  0.992879725

p_ni:  0.007120275

Data Source:  BioPlex

TMEM159

Tdark

Novelty:  0.22237677

p_int:  0.984955903

p_ni:  0.015044098

Data Source:  BioPlex

TSPAN5

Tbio

Novelty:  0.08879443

p_int:  0.976312979

p_ni:  0.023687021

Score:  0.195

Data Source:  BioPlex,STRINGDB

GABRE

Tclin

Family:  IC

Novelty:  0.03814541

p_int:  0.974338837

p_ni:  0.025661163

Data Source:  BioPlex

HDGFL3

Tbio

Family:  Epigenetic

Novelty:  0.14292821

p_int:  0.974118161

p_ni:  0.025224273

p_wrong:  0.000657566

Data Source:  BioPlex

TMEM25

Tdark

Novelty:  0.35505784

p_int:  0.968855452

p_ni:  0.031144548

Data Source:  BioPlex

GABRA6

Tclin

Family:  IC

Novelty:  0.02894664

p_int:  0.961369116

p_ni:  0.038630884

Score:  0.183

Data Source:  BioPlex,STRINGDB

GABRG2

Tclin

Family:  IC

Novelty:  0.00819163

p_int:  0.960329754

p_ni:  0.039670246

Score:  0.192

Data Source:  BioPlex,STRINGDB

CD47

Tchem

Novelty:  0.00129086

p_int:  0.952525962

p_ni:  0.046945616

p_wrong:  0.000528423

Score:  0.516

Data Source:  BioPlex,STRINGDB

ZDHHC17

Tbio

Family:  Enzyme

Novelty:  0.03288707

p_int:  0.947102415

p_ni:  0.052897585

Data Source:  BioPlex

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (9)

WikiPathways (9)

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1 – 5 of 9

Data Source	Name	Explore in Pharos	Explore in Source
WikiPathways	Adipogenesis	592 targets	WP236_r105873
WikiPathways	Adipogenesis	592 targets	WP236_r105873
WikiPathways	ESC Pluripotency Pathways	807 targets	WP3931_r105576
WikiPathways	ncRNAs involved in Wnt signaling in hepatocellular carcinoma	428 targets	WP4336_r105488
WikiPathways	Wnt Signaling	949 targets	WP428_r105468

Name	Explore in Pharos	Explore in Source
Adipogenesis	592 targets	WP236_r105873
Adipogenesis	592 targets	WP236_r105873
ESC Pluripotency Pathways	807 targets	WP3931_r105576
ncRNAs involved in Wnt signaling in hepatocellular carcinoma	428 targets	WP4336_r105488
Wnt Signaling	949 targets	WP428_r105468

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (7)

Components (1)

Processes (6)

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GO Term	Evidence	Assigned by
integral component of endoplasmic reticulum membrane	Inferred from Direct Assay (IDA)	UniProtKB

Disease Associations (null)

No disease associations found

GWAS Traits (16)

• Explore on Target Illumination GWAS Analytics (TIGA)

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1 – 5 of 16

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
waist-hip ratio	EFO_0004343	1	5	5		90.1
BMI-adjusted waist-hip ratio	EFO_0007788	2	6	6		90
forced expiratory volume	EFO_0004314	1	1	1		78.3
vital capacity	EFO_0004312	1	1	1		73.6
waist circumference	EFO_0004342	1	2	2		71.8

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 16

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
waist-hip ratio	EFO_0004343	5		90.1
BMI-adjusted waist-hip ratio	EFO_0007788	6		90
forced expiratory volume	EFO_0004314	1		78.3
vital capacity	EFO_0004312	1		73.6
waist circumference	EFO_0004342	2		71.8

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
Complete proteome
Congenital generalized lipodystrophy
Diabetes mellitus
Disease mutation
Endoplasmic reticulum
Glycoprotein
Hereditary spastic paraplegia
Lipid degradation

GWAS Trait Find Similar Targets

No Header	No Header
BMI-adjusted hip circumference
BMI-adjusted waist circumference
BMI-adjusted waist-hip ratio
C-reactive protein measurement
cognitive function measurement
forced expiratory volume
hip circumference
mathematical ability
neutrophil percentage of leukocytes
physical activity measurement

MGI Phenotype Find Similar Targets

No Header	No Header
adipose tissue phenotype
behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
digestive/alimentary phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype
immune system phenotype

IDG Resources

No IDG generated resources found

Orthologs (12)

1 – 5 of 12

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	BSCL2, seipin lipid droplet biogenesis associated	VGNC:49040	100609080
Mouse	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	MGI:1298392	14705
Rat	BSCL2, seipin lipid droplet biogenesis associated	RGD:1308135	361722
Dog	BSCL2, seipin lipid droplet biogenesis associated	VGNC:38538	476054
Horse	BSCL2, seipin lipid droplet biogenesis associated	VGNC:15901	100063764

Species	Name	OMA	EggNOG	Inparanoid
Chimp	BSCL2, seipin lipid droplet biogenesis associated
Mouse	Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Rat	BSCL2, seipin lipid droplet biogenesis associated
Dog	BSCL2, seipin lipid droplet biogenesis associated
Horse	BSCL2, seipin lipid droplet biogenesis associated

Publication Statistics

PubMed Score 246.35

PubMed score by year

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PubTator Score 211.74

PubTator score by year

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Related Publications

Text Mined References (81)

GeneRif Annotations (64)

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PMID	Year	Title