SCARF2 (scavenger receptor class F member 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
91179
Gene name Gene Name - the full gene name approved by the HGNC.
Scavenger receptor class F member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SCARF2
Synonyms (NCBI Gene) Gene synonyms aliases
NSR1, SREC-II, SREC2, SRECRP-1, VDEGS
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.21
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is similar to SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low densi
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs387907086 C>T Pathogenic Missense variant, coding sequence variant
rs587776902 AC>- Pathogenic Frameshift variant, coding sequence variant
rs587777657 A>G Pathogenic Coding sequence variant, missense variant
rs587777658 T>- Pathogenic Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786205883 AGCGCGCGCCCCAGCGC>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(76)
miRTarBase ID miRNA Experiments Reference
MIRT487116 hsa-miR-6850-3p PAR-CLIP 23592263
MIRT487115 hsa-miR-939-3p PAR-CLIP 23592263
MIRT487114 hsa-miR-6852-5p PAR-CLIP 23592263
MIRT487112 hsa-miR-6742-3p PAR-CLIP 23592263
MIRT487113 hsa-miR-6081 PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0005044 Function Scavenger receptor activity IBA
GO:0005044 Function Scavenger receptor activity IEA
GO:0005515 Function Protein binding IPI 17474147
GO:0005925 Component Focal adhesion HDA 21423176
GO:0007155 Process Cell adhesion IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613619 19869 ENSG00000244486
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96GP6
Protein name Scavenger receptor class F member 2 (SRECRP-1) (Scavenger receptor expressed by endothelial cells 2 protein) (SREC-II)
Protein function Probable adhesion protein, which mediates homophilic and heterophilic interactions. In contrast to SCARF1, it poorly mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL) (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00053 Laminin_EGF 184 → 216 Laminin EGF domain Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in endothelial cells. Expressed in heart, placenta, lung, kidney, spleen, small intestine and ovary. {ECO:0000269|PubMed:12154095}.
Sequence 
MEGAGPRGAGPARRRGAGGPPSPLLPSLLLLLLLWMLPDTVAPQELNPRGRNVCRAPGSQ
VPTCCAGWRQQGDECGIAVCEGNSTCSENEVCVRPGECRCRHGYFGANCDTKCPRQFWGP
DCKELCSCHPHGQCEDVTGQCTCHARRWGARCEHACQCQHGTCHPRSGACRCEPGWWGAQ
CASACYCSATSRCDPQTGACLCHAGWWGRSCNNQCACNSSPCEQQSGRCQCRERTFGARC
DRYCQCFRGRCHPVDGTCACEPGYRGKYCREPCPAGFYGLGCRRRCGQCKGQQPCTVAEG
RCLTCEPGWNGTKCDQPCATGFYGEGCSHRCPPCRDGHACNHVTGKCTRCNAGWIGDRCE
TKCSNGTYGEDCAFVCADCGSGHCDFQSGRCLCSPGVHGPHCNVTCPPGLHGADCAQACS
CHEDTCDPVTGACHLETNQRKGVMGAGALLVLLVCLLLSLLGCCCACRGKDPTRRPRPRR
ELSLGRKKAPHRLCGRFSRISMKLPRIPLRRQKLPKVVVAHHDLDNTLNCSFLEPPSGLE
QPSPSWSSRASFSSFDTTDEGPVYCVPHEEAPAESRDPEVPTVPAEAPAPSPVPLTTPAS
AEEAIPLPASSDSERSASSVEGPGGALYARVARREARPARARGEIGGLSLSPSPERRKPP
PPDPATKPKVSWIHGKHSAAAAGRAPSPPPPGSEAAPSPSKRKRTPSDKSAHTVEHGSPR
TRDPTPRPPGLPEEATALAAPSPPRARARGRGPGLLEPTDAGGPPRSAPEAASMLAAELR
GKTRSLGRAEVALGAQGPREKPAPPQKAKRSVPPASPARAPPATETPGPEKAATDLPAPE
TPRKKTPIQKPPRKKSREAAGELGRAGAPTL
Sequence length 871
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Van Den Ende-Gupta Syndrome van den ende-gupta syndrome rs387907086, rs587776902, rs587777657, rs587777658, rs786205883, rs1241075295 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Microcephaly microcephaly N/A N/A ClinVar
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
22q11 Deletion Syndrome Associate 40237608
Breast Neoplasms Associate 39199284
Cataract Associate 24478002
Genetic Diseases Inborn Associate 29907982
Marden Walker like syndrome Associate 20887961, 24478002, 29378527, 40237608
Mood Disorders Associate 34715901
Patellar Dislocation Associate 29378527
Sclerocornea Associate 24478002