SCARF2 (scavenger receptor class F member 2)

2014-11-01  

Identity

HGNC
LOCATION
22q11.21
LOCUSID
ALIAS
NSR1,SREC-II,SREC2,SRECRP-1,VDEGS
FUSION GENES

Other Information

Locus ID:

NCBI: 91179
MIM: 613619
HGNC: 19869
Ensembl: ENSG00000244486

Variants:

dbSNP: 91179
ClinVar: 91179
TCGA: ENSG00000244486
COSMIC: SCARF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000244486ENST00000622235Q96GP6
ENSG00000244486ENST00000623402Q96GP6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
121540952002SREC-II, a new member of the scavenger receptor type F family, trans-interacts with SREC-I through its extracellular domain.23
208879612010Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.18
244780022014Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.3

Citation

Dessen P

SCARF2 (scavenger receptor class F member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73004/scarf2