Protein Description

Gene Symbol ERLIN2
Entrez ID 11160
Uniprot ID O94905
Description ER lipid raft associated 2
Chromosomal Location chr8: 37,736,599-37,759,101
Ontology GO ID GO Term Definition Evidence

BP

GO:0008203

cholesterol metabolic process

The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues.

IEA

BP

GO:0018108

peptidyl-tyrosine phosphorylation

The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.

IEA

BP

GO:0030433

ER-associated ubiquitin-dependent protein catabolic process

The chemical reactions and pathways resulting in the breakdown of proteins transported from the endoplasmic reticulum and targeted to cytoplasmic proteasomes for degradation. This process acts on misfolded proteins as well as in the regulated degradation of correctly folded proteins.

IDA

BP

GO:0032933

SREBP signaling pathway

A series of molecular signals from the endoplasmic reticulum to the nucleus generated as a consequence of decreased levels of one or more sterols (and in some yeast, changes in oxygen levels) and which proceeds through activation of a sterol response element binding transcription factor (SREBP) to result in up-regulation of target gene transcription.

IMP

BP

GO:0045541

negative regulation of cholesterol biosynthetic process

Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol.

IMP

BP

GO:0045717

negative regulation of fatty acid biosynthetic process

Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids.

IMP

CC

GO:0005737

cytoplasm

All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

IDA

CC

GO:0005783

endoplasmic reticulum

The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).

IDA

CC

GO:0005789

endoplasmic reticulum membrane

The lipid bilayer surrounding the endoplasmic reticulum.

IDA

CC

GO:0005886

plasma membrane

The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

IDA|TAS

CC

GO:0016021

integral component of membrane

The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

IEA

CC

GO:0043234

protein complex

A stable macromolecular complex composed (only) of two or more polypeptide subunits along with any covalently attached molecules (such as lipid anchors or oligosaccharide) or non-protein prosthetic groups (such as nucleotides or metal ions). Prosthetic group in this context refers to a tightly bound cofactor. The component polypeptide subunits may be identical.

IDA

CC

GO:0045121

membrane raft

Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.

IDA

CC

GO:0070062

extracellular exosome

A membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.

IDA

MF

GO:0004713

protein tyrosine kinase activity

Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.

TAS

MF

GO:0005515

protein binding

Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).

IPI

MF

GO:0015485

cholesterol binding

Interacting selectively and non-covalently with cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.

IBA

MF

GO:0031625

ubiquitin protein ligase binding

Interacting selectively and non-covalently with a ubiquitin protein ligase enzyme, any of the E3 proteins.

IPI

Domain ID Description

IPR001107

Band 7 domain

IPR033294

Erlin1/2

No pathways found.

UMLS CUI UMLS Term

C3714756

Intellectual Disability

Tissue Cell Type

breast

glandular cells

breast

myoepithelial cells

bronchus

respiratory epithelial cells

caudate

glial cells

cerebellum

cells in granular layer

cerebral cortex

glial cells

endometrium

glandular cells

epididymis

glandular cells

fallopian tube

glandular cells

gallbladder

glandular cells

hippocampus

glial cells

kidney

cells in tubules

liver

bile duct cells

liver

hepatocytes

placenta

decidual cells

placenta

trophoblastic cells

spleen

cells in red pulp

stomach

glandular cells

testis

cells in seminiferous ducts

testis

Leydig cells

thyroid gland

glandular cells

No databases found.

Pubmed ID Author Year Title

22951915

Haozi et al.

2012

Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome

Gene Symbol Entrez ID Uniprot ID Score

FLOT2

2319

Q14254

0.49

KRT7

3855

P08729

0.49

RAB2A

5862

P61019

0.49

PDCD6

10016

O75340

0.49

FLOT1

10211

O75955

0.49

HNRNPUL2

221092

Q1KMD3

0.49

CACNA2D1

781

P54289

0.63

CASP8

841

Q14790

0.63

CD3D

915

P04234

0.63

DUSP3

1845

P51452

0.63

GSTM5

2949

P46439

0.63

HSPA4

3308

P34932

0.63

HNRNPM

4670

P52272

0.63

PSMD2

5708

Q13200

0.63

SREBF1

6720

P36956

0.63

SREBF2

6721

Q12772

0.63

UFD1L

7353

Q92890

0.63

TUBA1A

7846

Q71U36

0.63

MLF2

8079

Q15773

0.63

AIFM1

9131

O95831

0.63

TUBA8

51807

Q9NY65

0.63

FKBP14

55033

Q9NWM8

0.63

AMIGO1

57463

Q86WK6

0.63

DERL1

79139

Q9BUN8

0.63

TMEM259

91304

Q4ZIN3

0.63

CD109

135228

Q6YHK3

0.63

ARSK

153642

Q6UWY0

0.63

TUBB

203068

P07437

0.63

ATP2A2

488

P16615

0.72

CANX

821

P27824

0.72

CSE1L

1434

P55060

0.72

TCP1

6950

P17987

0.72

HSP90B1

7184

P14625

0.72

TRIM28

10155

Q13263

0.72

HAX1

10456

O00165

0.72

SEC61B

10952

P60468

0.72

RNF139

11236

Q8WU17

0.72

RHOT1

55288

Q8IXI2

0.72

CCDC47

57003

Q96A33

0.72

SRPRB

58477

Q9Y5M8

0.72

TIMM50

92609

Q3ZCQ8

0.72

SCAP

22937

Q12770

0.73

TMUB1

83590

Q9BVT8

0.76

HSPA5

3309

P11021

0.82

SYVN1

84447

Q86TM6

0.83

AMFR

267

Q9UKV5

0.74

DCTN1

1639

Q14203

0.49

EEF2

1938

P13639

0.49

EWSR1

2130

Q01844

0.49

STK3

6788

Q13188

0.49

CNTRL

11064

Q7Z7A1

0.49

RPGRIP1L

23322

Q68CZ1

0.49

PPP6R3

55291

Q5H9R7

0.49

TCTN1

79600

Q2MV58

0.49

MCU

90550

Q8NE86

0.49

TMEM67

91147

Q5HYA8

0.49

SCLT1

132320

Q96NL6

0.49

CEP128

145508

Q6ZU80

0.49

CCT2

10576

P78371

0.56

ADRA1D

146

P25100

0.63

ADRB2

154

P07550

0.63

CDK2

1017

P24941

0.63

CFTR

1080

P13569

0.63

CLN3

1201

Q13286

0.63

ELAVL1

1994

Q15717

0.63

FAP

2191

Q12884

0.63

JUN

3725

P05412

0.63

NTRK1

4914

P04629

0.63

PSEN1

5663

P49768

0.63

TCF3

6929

P15923

0.63

UBL4A

8266

P11441

0.63

UBD

10537

O15205

0.63

FAF2

23197

Q96CS3

0.63

FBXO6

26270

Q9NRD1

0.63

APH1A

51107

Q96BI3

0.63

PSENEN

55851

Q9NZ42

0.63

MMS19

64210

Q96T76

0.63

RIC3

79608

Q7Z5B4

0.63

SLC38A1

81539

Q9H2H9

0.63

RNF185

91445

Q96GF1

0.63

UBAC2

337867

Q8NBM4

0.63

FN1

2335

P02751

0.72

ICT1

3396

Q14197

0.72

RAB7A

7879

P51149

0.72

VAPA

9218

Q9P0L0

0.72

GOLT1B

51026

Q9Y3E0

0.72

TMEM63B

55362

Q5T3F8

0.72

HDAC11

79885

Q96DB2

0.72

ITPR1

3708

Q14643

0.73

HMGCR

3156

P04035

0.82

NCSTN

23385

Q92542

0.82

INSIG1

3638

O15503

0.83

ERLIN1

10613

O75477

0.85