Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
rs1241075295	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs1555908093	->G	Likely-pathogenic	Coding sequence variant, frameshift variant

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
MIRT487111	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT487110	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT487109	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT487108	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT487106	hsa-miR-5698	PAR-CLIP	23592263
MIRT487107	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT487105	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT487104	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT487103	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT487102	hsa-miR-1343-3p	PAR-CLIP	23592263
MIRT487100	hsa-miR-6783-3p	PAR-CLIP	23592263
MIRT487102	hsa-miR-1343-3p	PAR-CLIP	26701625
MIRT487102	hsa-miR-1343-3p	PAR-CLIP	26701625
MIRT487111	hsa-miR-1343-5p	PAR-CLIP	26701625
MIRT487111	hsa-miR-1343-5p	PAR-CLIP	26701625
MIRT487108	hsa-miR-4723-5p	PAR-CLIP	26701625
MIRT487108	hsa-miR-4723-5p	PAR-CLIP	26701625
MIRT487109	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT487109	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT487106	hsa-miR-5698	PAR-CLIP	26701625
MIRT487106	hsa-miR-5698	PAR-CLIP	26701625
MIRT487112	hsa-miR-6742-3p	PAR-CLIP	26701625
MIRT487112	hsa-miR-6742-3p	PAR-CLIP	26701625
MIRT487100	hsa-miR-6783-3p	PAR-CLIP	26701625
MIRT487100	hsa-miR-6783-3p	PAR-CLIP	26701625
MIRT487104	hsa-miR-6795-5p	PAR-CLIP	26701625
MIRT487104	hsa-miR-6795-5p	PAR-CLIP	26701625
MIRT487116	hsa-miR-6850-3p	PAR-CLIP	26701625
MIRT487116	hsa-miR-6850-3p	PAR-CLIP	26701625
MIRT487114	hsa-miR-6852-5p	PAR-CLIP	26701625
MIRT487114	hsa-miR-6852-5p	PAR-CLIP	26701625
MIRT487107	hsa-miR-6870-5p	PAR-CLIP	26701625
MIRT487107	hsa-miR-6870-5p	PAR-CLIP	26701625
MIRT487103	hsa-miR-6887-5p	PAR-CLIP	26701625
MIRT487103	hsa-miR-6887-5p	PAR-CLIP	26701625
MIRT487105	hsa-miR-7111-5p	PAR-CLIP	26701625
MIRT487105	hsa-miR-7111-5p	PAR-CLIP	26701625
MIRT487115	hsa-miR-939-3p	PAR-CLIP	26701625
MIRT487115	hsa-miR-939-3p	PAR-CLIP	26701625
MIRT487110	hsa-miR-939-5p	PAR-CLIP	26701625
MIRT487110	hsa-miR-939-5p	PAR-CLIP	26701625
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
MIRT487111	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT487110	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT487109	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT487108	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT487106	hsa-miR-5698	PAR-CLIP	23592263
MIRT487107	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT487105	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT487104	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT487103	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT487102	hsa-miR-1343-3p	PAR-CLIP	23592263
MIRT487100	hsa-miR-6783-3p	PAR-CLIP	23592263
MIRT1328704	hsa-miR-1471	CLIP-seq
MIRT1328705	hsa-miR-331-3p	CLIP-seq
MIRT1328706	hsa-miR-3689d	CLIP-seq
MIRT1328707	hsa-miR-4254	CLIP-seq
MIRT1328708	hsa-miR-4281	CLIP-seq
MIRT1328709	hsa-miR-4308	CLIP-seq
MIRT1328710	hsa-miR-139-3p	CLIP-seq
MIRT1328711	hsa-miR-492	CLIP-seq
MIRT2321831	hsa-miR-3187-3p	CLIP-seq
MIRT2321832	hsa-miR-3926	CLIP-seq
MIRT2321833	hsa-miR-4435	CLIP-seq
MIRT2321834	hsa-miR-4701-5p	CLIP-seq
MIRT2321835	hsa-miR-548s	CLIP-seq
MIRT2321836	hsa-miR-588	CLIP-seq

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
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA

MIM	HGNC	e!Ensembl
613619	19869	ENSG00000244486

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCARF2-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (23)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
22q11 Deletion Syndrome	22q11 deletion syndrome	Pubtator	40237608	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39199284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	24478002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital dislocation of radial head	Dislocated radial head	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27375131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Marden Walker like syndrome	Marden Walker Like Syndrome	BEFREE	20887961, 24478002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marden Walker like syndrome	Marden Walker Like Syndrome	GENOMICS_ENGLAND_DG	20887961, 21108395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marden Walker like syndrome	Marden Walker Like Syndrome	UNIPROT_DG	20887961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marden Walker like syndrome	Marden Walker Like Syndrome	ORPHANET_DG	20887961, 22140376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marden Walker like syndrome	Marden Walker Like Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	34715901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	BEFREE	24478002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Van den Ende-Gupta syndrome	Van Den Ende-Gupta Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

SCARF2 (scavenger receptor class F member 2)