LOCUS       NM_153334               3478 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens scavenger receptor class F member 2 (SCARF2),
            transcript variant 1, mRNA.
ACCESSION   NM_153334
VERSION     NM_153334.7
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3478)
  AUTHORS   Karaer,D. and Karaer,K.
  TITLE     Two novel variants in SCARF2 gene underlie van den Ende-Gupta
            syndrome
  JOURNAL   Am J Med Genet A 188 (6), 1881-1884 (2022)
   PUBMED   35224863
  REMARK    GeneRIF: Two novel variants in SCARF2 gene underlie van den
            Ende-Gupta syndrome.
REFERENCE   2  (bases 1 to 3478)
  AUTHORS   Hildebrandt,C.C., Patel,N., Graham,J.M. Jr., Bamshad,M.,
            Nickerson,D.A., White,J.J., Marvin,C.T., Miller,D.E., Grand,K.L.,
            Sanchez-Lara,P.A., Schweitzer,D., Al-Zaidan,H.I., Al Masseri,Z.,
            Alkuraya,F.S. and Lin,A.E.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     Further delineation of van den Ende-Gupta syndrome: Genetic
            heterogeneity and overlap with congenital heart defects and
            skeletal malformations syndrome
  JOURNAL   Am J Med Genet A 185 (7), 2136-2149 (2021)
   PUBMED   33783941
  REMARK    GeneRIF: Further delineation of van den Ende-Gupta syndrome:
            Genetic heterogeneity and overlap with congenital heart defects and
            skeletal malformations syndrome.
REFERENCE   3  (bases 1 to 3478)
  AUTHORS   Migliavacca,M.P., Sobreira,N.L., Antonialli,G.P., Oliveira,M.M.,
            Melaragno,M.I., Casteels,I., de Ravel,T., Brunoni,D., Valle,D. and
            Perez,A.B.
  TITLE     Sclerocornea in a patient with van den Ende-Gupta syndrome
            homozygous for a SCARF2 microdeletion
  JOURNAL   Am J Med Genet A 164A (5), 1170-1174 (2014)
   PUBMED   24478002
  REMARK    GeneRIF: the full VDEGS phenotype may include sclerocornea
            resulting from homozygosity or compound heterozygosity for loss of
            function variants in SCARF2.
REFERENCE   4  (bases 1 to 3478)
  AUTHORS   Kuo,J.C., Han,X., Hsiao,C.T., Yates,J.R. 3rd and Waterman,C.M.
  TITLE     Analysis of the myosin-II-responsive focal adhesion proteome
            reveals a role for beta-Pix in negative regulation of focal
            adhesion maturation
  JOURNAL   Nat Cell Biol 13 (4), 383-393 (2011)
   PUBMED   21423176
REFERENCE   5  (bases 1 to 3478)
  AUTHORS   Anastasio,N., Ben-Omran,T., Teebi,A., Ha,K.C., Lalonde,E., Ali,R.,
            Almureikhi,M., Der Kaloustian,V.M., Liu,J., Rosenblatt,D.S.,
            Majewski,J. and Jerome-Majewska,L.A.
  TITLE     Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome
  JOURNAL   Am J Hum Genet 87 (4), 553-559 (2010)
   PUBMED   20887961
  REMARK    GeneRIF: Mutations in SCARF2 are responsible for Van Den Ende-Gupta
            syndrome.
REFERENCE   6  (bases 1 to 3478)
  AUTHORS   Bedeschi,M.F., Colombo,L., Mari,F., Hofmann,K., Rauch,A.,
            Gentilin,B., Renieri,A. and Clerici,D.
  TITLE     Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo
            Deletion in a Patient with Van den Ende-Gupta Syndrome
  JOURNAL   Mol Syndromol 1 (5), 239-245 (2010)
   PUBMED   22140376
REFERENCE   7  (bases 1 to 3478)
  AUTHORS   Wu,C., Ma,M.H., Brown,K.R., Geisler,M., Li,L., Tzeng,E., Jia,C.Y.,
            Jurisica,I. and Li,S.S.
  TITLE     Systematic identification of SH3 domain-mediated human
            protein-protein interactions by peptide array target screening
  JOURNAL   Proteomics 7 (11), 1775-1785 (2007)
   PUBMED   17474147
REFERENCE   8  (bases 1 to 3478)
  AUTHORS   Ishii,J., Adachi,H., Aoki,J., Koizumi,H., Tomita,S., Suzuki,T.,
            Tsujimoto,M., Inoue,K. and Arai,H.
  TITLE     SREC-II, a new member of the scavenger receptor type F family,
            trans-interacts with SREC-I through its extracellular domain
  JOURNAL   J Biol Chem 277 (42), 39696-39702 (2002)
   PUBMED   12154095
  REMARK    GeneRIF: SRECII binds to SRECI and has a similar tissue
            distribution pattern
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF522196.1 and BC009326.2.
            
            On Jun 3, 2019 this sequence version replaced NM_153334.6.
            
            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 density lipoproteins (LDL), but it can interact with
            SCARF1 through its extracellular domain. The association of this
            protein with SCARF1 is suppressed by the presence of scavenger
            ligands. Alternatively spliced transcript variants encoding
            distinct isoforms have been reported. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF522196.1, ERR4368409.325497.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2251              AF522196.1         35-2285
            2252-3478           BC009326.2         1354-2580
FEATURES             Location/Qualifiers
     source          1..3478
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..3478
                     /gene="SCARF2"
                     /gene_synonym="NSR1; SREC-II; SREC2; SRECRP-1; VDEGS"
                     /note="scavenger receptor class F member 2"
                     /db_xref="GeneID:91179"
                     /db_xref="HGNC:HGNC:19869"
                     /db_xref="MIM:613619"
     exon            1..244
                     /gene="SCARF2"
                     /gene_synonym="NSR1; SREC-II; SREC2; SRECRP-1; VDEGS"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..2687
                     /gene="SCARF2"
                     /gene_synonym="NSR1; SREC-II; SREC2; SRECRP-1; VDEGS"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; scavenger receptor expressed by endothelial
                     cells 2 protein"
                     /codon_start=1
                     /product="scavenger receptor class F member 2 isoform 1
                     precursor"
                     /protein_id="NP_699165.3"
                     /db_xref="CCDS:CCDS13779.2"
                     /db_xref="GeneID:91179"
                     /db_xref="HGNC:HGNC:19869"
                     /db_xref="MIM:613619"
                     /translation="MEGAGPRGAGPARRRGAGGPPSPLLPSLLLLLLLWMLPDTVAPQ
                     ELNPRGRNVCRAPGSQVPTCCAGWRQQGDECGIAVCEGNSTCSENEVCVRPGECRCRH
                     GYFGANCDTKCPRQFWGPDCKELCSCHPHGQCEDVTGQCTCHARRWGARCEHACQCQH
                     GTCHPRSGACRCEPGWWGAQCASACYCSATSRCDPQTGACLCHAGWWGRSCNNQCACN
                     SSPCEQQSGRCQCRERTFGARCDRYCQCFRGRCHPVDGTCACEPGYRGKYCREPCPAG
                     FYGLGCRRRCGQCKGQQPCTVAEGRCLTCEPGWNGTKCDQPCATGFYGEGCSHRCPPC
                     RDGHACNHVTGKCTRCNAGWIGDRCETKCSNGTYGEDCAFVCADCGSGHCDFQSGRCL
                     CSPGVHGPHCNVTCPPGLHGADCAQACSCHEDTCDPVTGACHLETNQRKGVMGAGALL
                     VLLVCLLLSLLGCCCACRGKDPTRRPRPRRELSLGRKKAPHRLCGRFSRISMKLPRIP
                     LRRQKLPKVVVAHHDLDNTLNCSFLEPPSGLEQPSPSWSSRASFSSFDTTDEGPVYCV
                     PHEEAPAESRDPEVPTVPAEAPAPSPVPLTTPASAEEAIPLPASSDSERSASSVEGPG
                     GALYARVARREARPARARGEIGGLSLSPSPERRKPPPPDPATKPKVSWIHGKHSAAAA
                     GRAPSPPPPGSEAAPSPSKRKRTPSDKSAHTVEHGSPRTRDPTPRPPGLPEEATALAA
                     PSPPRARARGRGPGLLEPTDAGGPPRSAPEAASMLAAELRGKTRSLGRAEVALGAQGP
                     REKPAPPQKAKRSVPPASPARAPPATETPGPEKAATDLPAPETPRKKTPIQKPPRKKS
                     REAAGELGRAGAPTL"
     exon            245..303
                     /gene="SCARF2"
                     /gene_synonym="NSR1; SREC-II; SREC2; SRECRP-1; VDEGS"
                     /inference="alignment:Splign:2.1.0"
     exon            304..405
                     /gene="SCARF2"
                     /gene_synonym="NSR1; SREC-II; SREC2; SRECRP-1; VDEGS"
                     /inference="alignment:Splign:2.1.0"
     exon            406..925
                     /gene="SCARF2"
                     /gene_synonym="NSR1; SREC-II; SREC2; SRECRP-1; VDEGS"
                     /inference="alignment:Splign:2.1.0"
     exon            926..1144
                     /gene="SCARF2"
                     /gene_synonym="NSR1; SREC-II; SREC2; SRECRP-1; VDEGS"
                     /inference="alignment:Splign:2.1.0"
     exon            1145..1273
                     /gene="SCARF2"
                     /gene_synonym="NSR1; SREC-II; SREC2; SRECRP-1; VDEGS"
                     /inference="alignment:Splign:2.1.0"
     exon            1274..1377
                     /gene="SCARF2"
                     /gene_synonym="NSR1; SREC-II; SREC2; SRECRP-1; VDEGS"
                     /inference="alignment:Splign:2.1.0"
     exon            1378..1495
                     /gene="SCARF2"
                     /gene_synonym="NSR1; SREC-II; SREC2; SRECRP-1; VDEGS"
                     /inference="alignment:Splign:2.1.0"
     exon            1496..1626
                     /gene="SCARF2"
                     /gene_synonym="NSR1; SREC-II; SREC2; SRECRP-1; VDEGS"
                     /inference="alignment:Splign:2.1.0"
     exon            1627..1779
                     /gene="SCARF2"
                     /gene_synonym="NSR1; SREC-II; SREC2; SRECRP-1; VDEGS"
                     /inference="alignment:Splign:2.1.0"
     exon            1780..3478
                     /gene="SCARF2"
                     /gene_synonym="NSR1; SREC-II; SREC2; SRECRP-1; VDEGS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3458..3463
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCARF2"
                     /gene_synonym="NSR1; SREC-II; SREC2; SRECRP-1; VDEGS"
                     /note="hexamer: AATAAA"
     polyA_site      3478
                     /gene="SCARF2"
                     /gene_synonym="NSR1; SREC-II; SREC2; SRECRP-1; VDEGS"
                     /note="major polyA site"
ORIGIN      
        1 actccgcttc cggccgctct cgctgcggcc gcacccgcgc ccgtgcccgc cccgcgcctg
       61 ccccgcgcct catggagggc gcagggcccc ggggggccgg gccggcgcgg cgccggggag
      121 ccggggggcc gccgtcaccg ctgctgccgt cgctgctgct gctgctgctg ctctggatgc
      181 tgccggacac cgtggcgcct caggaactga accctcgcgg ccgcaacgtg tgccgtgctc
      241 ccggctccca ggtgcccacg tgctgcgctg gctggaggca gcaaggggac gagtgtggga
      301 ttgcggtgtg cgaaggcaac tccacgtgct cagagaacga ggtgtgcgtg aggcctggcg
      361 agtgccgctg ccgccacggc tacttcggtg ccaactgcga caccaagtgc ccgcgccagt
      421 tctggggccc cgactgcaag gagctgtgta gctgccaccc acacgggcag tgcgaggacg
      481 tgacaggcca gtgtacttgt cacgcgcggc gctggggcgc gcgctgcgag catgcgtgcc
      541 agtgccagca cggcacgtgc cacccgcgga gcggcgcgtg ccgctgtgag cccggctggt
      601 ggggcgcgca gtgcgccagc gcgtgctact gcagcgccac gtcgcgctgc gacccacaga
      661 ccggcgcctg cctgtgccac gcaggctggt ggggccgcag ctgcaacaac cagtgcgcct
      721 gcaactcgtc tccctgcgag cagcagagcg gccgctgtca gtgccgcgag cgtacgttcg
      781 gcgcgcgctg cgatcgctac tgccagtgct tccgcggccg ctgccaccct gtggacggca
      841 cgtgtgcctg cgagccgggc taccgcggca agtactgtcg cgagccgtgc cccgccggct
      901 tctacggctt gggctgtcgc cgccggtgtg gccagtgcaa gggccagcag ccgtgcacgg
      961 tggccgaggg ccgctgcttg acgtgcgagc ccggctggaa cggaaccaag tgcgaccagc
     1021 cttgcgccac cggtttctat ggcgagggct gcagccaccg ctgtccgcca tgccgcgacg
     1081 ggcatgcctg taaccatgtc accggcaagt gtacgcgctg caacgcgggc tggatcggcg
     1141 accggtgcga gaccaagtgt agcaatggca cttacggcga ggactgcgcc ttcgtgtgcg
     1201 ccgactgcgg cagcggacac tgcgacttcc agtcggggcg ctgcctgtgc agccctggcg
     1261 tccacgggcc ccactgtaac gtgacgtgcc cgcccggact ccacggcgcg gactgtgctc
     1321 aggcctgcag ctgccacgag gacacgtgcg acccggtcac tggtgcctgc cacctagaaa
     1381 ccaaccagcg caagggcgtg atgggcgcgg gcgcgctgct cgtcctgctc gtctgcctgc
     1441 tgctctcgct gctcggctgc tgctgcgctt gccgcggcaa ggaccctacg cgccgacccc
     1501 gcccccgcag ggagctttcg cttgggagga agaaggcgcc gcaccgacta tgcgggcgct
     1561 tcagtcgcat cagcatgaag ctgccccgga tcccgctccg gaggcagaaa ctacccaaag
     1621 tcgtagtggc ccaccacgac ctggataaca cactcaactg cagcttcctg gagccaccct
     1681 cagggctgga gcagccctca ccatcctggt cctctcgggc ctccttctcc tcgtttgaca
     1741 ccactgatga aggccctgtg tactgtgtac cccatgagga ggcaccagcg gagagccggg
     1801 accccgaagt ccccactgtc cctgccgagg cgccggcgcc gtcccctgtg cccttgacca
     1861 cgccagcctc cgccgaggag gcgatacccc tccccgcgtc ctccgacagc gagcggtcgg
     1921 cgtccagcgt ggaggggccc ggaggggctc tgtacgcgcg cgtggcccga cgcgaggccc
     1981 ggccggcccg ggcccggggc gagattgggg gcctgtcgct gtcgccatcg cccgagcgca
     2041 ggaaaccgcc gccacctgac cccgccacca agcctaaggt gtcctggatc cacggcaagc
     2101 acagcgccgc tgcagctggc cgtgcgccct caccaccgcc gccaggctcc gaggccgcgc
     2161 ccagccccag caagaggaaa cggacgccca gcgacaaatc ggcgcatacg gtcgaacacg
     2221 gcagcccccg gacccgcgac ccaacgccgc ggccccccgg gctgcccgag gaggcgacag
     2281 ccctcgctgc gccctcgccg cccagggccc gagcgcgggg ccgcggcccc ggcctcttgg
     2341 agcccacgga cgccggcggt cccccgcgaa gcgcgcccga ggctgcctcc atgttggccg
     2401 ctgagctgcg cggcaagact cgcagcctgg gccgcgccga ggtggccctg ggcgcgcagg
     2461 gccccaggga aaagccggcg cccccacaga aagccaagcg ctccgtgccg ccagcctcgc
     2521 ccgcccgcgc gcccccagcg accgaaaccc cggggcctga gaaggcggcg accgacttgc
     2581 ccgcgcctga gaccccccgg aagaagaccc ccatccagaa gccgccgcgc aagaagagcc
     2641 gggaggcggc gggcgagctg ggcagggcgg gcgcacccac cctgtagcag gctgtggctc
     2701 gtccgcgcgc agctccctca gcttcgcagc gccgcccgcc accccacacc tcccacgcta
     2761 ccgggcacgg gcggcctcct attggccggg caccgcgcgg ctagcggagg ttgcgtctca
     2821 ttggctcagg tcctgcagcc gctcctggat tggagcagtg tgctctggcg ggaagggccc
     2881 atcccgttgg tcgaggcctg acaggcgctt agcgggcgac tccctcccca ttggccgagt
     2941 tatggagcgc tccgaccaga cagcgtctca ttggccaaag atgggagggt tccgcttaaa
     3001 gaccgcctct tactggccag gagtggactt ggttagggct accttctcat tggttgcagc
     3061 cagaggcact tctgcccggg ctgcctctcc cccgctaggg cctggtgcct ctggctggag
     3121 gctccctccc ttggccgtcc caatagagcc cggggctact tccactggcc aggctcccgg
     3181 gcatctggtt gaccccagcc tggggaggag ggctggtctc cgctcctcag gggcttagtc
     3241 cgtcccaccc cttcccttcc ctggcgcccc gggcccaggc ccctcagctg tcagctggtt
     3301 ttgatggcct cccactgccc cacacgccgc gggacctcca ggggcgactc tagtggcctg
     3361 aggagatgta tttataggcc cccagcaggg ctgctccccc ctcggccggt gccccaggat
     3421 gggctcctcc cggcgggggc ttggccaaag ctttcttaat aaaatgcctt tcccctca
//
