ERVFRD-1 (endogenous retrovirus group FRD member 1, envelope)

2016-10-01 Affiliation

Identity

HGNC

ERVFRD-1

LOCATION

6p24.2

LOCUSID

405754

ALIAS

ERVFRDE1,GLLL6191,HERV-FRD,HERV-W/FRD,UNQ6191,envFRD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 405754
MIM: 610524
HGNC: 33823
Ensembl: ENSG00000244476

Variants:

dbSNP: 405754
ClinVar: 405754
TCGA: ENSG00000244476
COSMIC: ERVFRD-1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000244476	ENST00000472091	P60508
ENSG00000244476	ENST00000542862	P60508

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
18077339	2007	Placental syncytins: Genetic disjunction between the fusogenic and immunosuppressive activity of retroviral envelope proteins.	89
21493955	2011	Reduced expression of both syncytin 1 and syncytin 2 correlates with severity of preeclampsia.	21
21771862	2011	Epigenetic regulation of transcription and splicing of syncytins, fusogenic glycoproteins of retroviral origin.	19
23177091	2013	MFSD2a, the Syncytin-2 receptor, is important for trophoblast fusion.	15
26992684	2016	Expression patterns of ERVWE1/Syncytin-1 and other placentally expressed human endogenous retroviruses along the malignant transformation process of hydatidiform moles.	4
16140326	2005	Crystal structure of a pivotal domain of human syncytin-2, a 40 million years old endogenous retrovirus fusogenic envelope gene captured by primates.	0
16714059	2007	Expression of the fusogenic HERV-FRD Env glycoprotein (syncytin 2) in human placenta is restricted to villous cytotrophoblastic cells.	0
18215254	2008	Human endogenous retrovirus-FRD envelope protein (syncytin 2) expression in normal and trisomy 21-affected placenta.	0
18650494	2008	Functional characterization of the human placental fusogenic membrane protein syncytin 2.	0
19616006	2009	Syncytin-2 plays an important role in the fusion of human trophoblast cells.	0

Citation

Dessen P

ERVFRD-1 (endogenous retrovirus group FRD member 1, envelope)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56408/ervfrd-1