SCARF2 (scavenger receptor class F member 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 91179
Gene name Scavenger receptor class F member 2
Gene symbol SCARF2
Synonyms (NCBI Gene)
NSR1SREC-IISREC2SRECRP-1VDEGS
Chromosome 22
Chromosome location 22q11.21
Summary 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.
7
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.
76
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613619 19869 ENSG00000244486
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Van den Ende-Gupta syndrome Pathogenic; Likely pathogenic rs2146130979, rs2146131503, rs921038430, rs587777657, rs587777658, rs2146133110, rs786205883, rs1368086969, rs387907086, rs587776902, rs1241075295, rs1215759021 RCV001543416
RCV001543417
RCV002052115
RCV000133555
RCV000133556
RCV002267573
RCV000170462
RCV003224919
RCV000024040
RCV000024041
RCV000990376
RCV001283835
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Benign rs5997411 RCV005915238
Malignant lymphoma, large B-cell, diffuse Benign rs5997411 RCV005915240
Microcephaly Uncertain significance rs777257623 RCV001252849
SCARF2-related disorder Benign; Likely benign rs761153453, rs150853613, rs1005655055, rs769523994 RCV003931303
RCV003913700
RCV003907201
RCV003903881
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease 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