LOCUS       NM_005666               1498 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens complement factor H related 2 (CFHR2), transcript
            variant 1, mRNA.
ACCESSION   NM_005666
VERSION     NM_005666.4
KEYWORDS    RefSeq; MANE Select.
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 1498)
  AUTHORS   Lores-Motta,L., van Beek,A.E., Willems,E., Zandstra,J., van
            Mierlo,G., Einhaus,A., Mary,J.L., Stucki,C., Bakker,B., Hoyng,C.B.,
            Fauser,S., Clark,S.J., de Jonge,M.I., Nogoceke,E., Koertvely,E.,
            Jongerius,I., Kuijpers,T.W. and den Hollander,A.I.
  TITLE     Common haplotypes at the CFH locus and low-frequency variants in
            CFHR2 and CFHR5 associate with systemic FHR concentrations and
            age-related macular degeneration
  JOURNAL   Am J Hum Genet 108 (8), 1367-1384 (2021)
   PUBMED   34260947
  REMARK    GeneRIF: Common haplotypes at the CFH locus and low-frequency
            variants in CFHR2 and CFHR5 associate with systemic FHR
            concentrations and age-related macular degeneration.
REFERENCE   2  (bases 1 to 1498)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1498)
  AUTHORS   Irmscher,S., Brix,S.R., Zipfel,S.L.H., Halder,L.D., Mutluturk,S.,
            Wulf,S., Girdauskas,E., Reichenspurner,H., Stahl,R.A.K.,
            Jungnickel,B., Wiech,T., Zipfel,P.F. and Skerka,C.
  TITLE     Serum FHR1 binding to necrotic-type cells activates monocytic
            inflammasome and marks necrotic sites in vasculopathies
  JOURNAL   Nat Commun 10 (1), 2961 (2019)
   PUBMED   31273197
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1498)
  AUTHORS   Huang,X.F., Wang,Y., Li,F.F., Lin,D., Dai,M.L., Wang,Q.F. and
            Jin,Z.B.
  TITLE     CFHR2-rs2986127 as a genetic protective marker for acute anterior
            uveitis in Chinese patients
  JOURNAL   J Gene Med 18 (8), 193-198 (2016)
   PUBMED   27306586
  REMARK    GeneRIF: Studies indicate an association between CFHR2-rs2986127
            and acute anterior uveitis (AAU) diagnosis.
REFERENCE   5  (bases 1 to 1498)
  AUTHORS   Hughes,A.E., Bridgett,S., Meng,W., Li,M., Curcio,C.A.,
            Stambolian,D. and Bradley,D.T.
  TITLE     Sequence and Expression of Complement Factor H Gene Cluster
            Variants and Their Roles in Age-Related Macular Degeneration Risk
  JOURNAL   Invest Ophthalmol Vis Sci 57 (6), 2763-2769 (2016)
   PUBMED   27196323
  REMARK    GeneRIF: Next-generation sequencing of the CFH region identified
            putatively functional variants (missense, splice site and indel) on
            the four common haplotypes. We found no expression of any of the
            five CFH-related genes in the retina or RPE/Choroid/Sclera, in
            contrast to the liver, which is the main source of the circulating
            proteins. [CFHR2]
REFERENCE   6  (bases 1 to 1498)
  AUTHORS   Diaz-Guillen,M.A., Rodriguez de Cordoba,S. and Heine-Suner,D.
  TITLE     A radiation hybrid map of complement factor H and factor H-related
            genes
  JOURNAL   Immunogenetics 49 (6), 549-552 (1999)
   PUBMED   10380701
REFERENCE   7  (bases 1 to 1498)
  AUTHORS   Skerka,C., Moulds,J.M., Taillon-Miller,P., Hourcade,D. and
            Zipfel,P.F.
  TITLE     The human factor H-related gene 2 (FHR2): structure and linkage to
            the coagulation factor XIIIb gene
  JOURNAL   Immunogenetics 42 (4), 268-274 (1995)
   PUBMED   7672821
REFERENCE   8  (bases 1 to 1498)
  AUTHORS   Zipfel,P.F. and Skerka,C.
  TITLE     Complement factor H and related proteins: an expanding family of
            complement-regulatory proteins?
  JOURNAL   Immunol Today 15 (3), 121-126 (1994)
   PUBMED   8172644
  REMARK    Review article
REFERENCE   9  (bases 1 to 1498)
  AUTHORS   Skerka,C., Timmann,C., Horstmann,R.D. and Zipfel,P.F.
  TITLE     Two additional human serum proteins structurally related to
            complement factor H. Evidence for a family of factor H-related
            genes
  JOURNAL   J Immunol 148 (10), 3313-3318 (1992)
   PUBMED   1533657
REFERENCE   10 (bases 1 to 1498)
  AUTHORS   Skerka,C., Horstmann,R.D. and Zipfel,P.F.
  TITLE     Molecular cloning of a human serum protein structurally related to
            complement factor H
  JOURNAL   J Biol Chem 266 (18), 12015-12020 (1991)
   PUBMED   1711047
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139418.9 and BC022283.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 16, 2018 this sequence version replaced NM_005666.3.
            
            Summary: This gene belongs to a family of complement factor
            H-related genes (CFHR), which are clustered together with
            complement factor H gene on chromosome 1, and are involved in
            regulation of complement. Mutations in CFHR genes have been
            associated with dense deposit disease and atypical
            haemolytic-uraemic syndrome. Alternatively spliced transcript
            variants have been found for this gene. [provided by RefSeq, Aug
            2015].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.62373.1,
                                           SRR5189652.151374.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367415.8/ ENSP00000356385.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                AL139418.9         34232-34274
            44-1086             BC022283.1         3-1045
            1087-1498           AL139418.9         49705-50116
FEATURES             Location/Qualifiers
     source          1..1498
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.3"
     gene            1..1498
                     /gene="CFHR2"
                     /gene_synonym="CFHL2; FHR2; HFL3"
                     /note="complement factor H related 2"
                     /db_xref="GeneID:3080"
                     /db_xref="HGNC:HGNC:4890"
                     /db_xref="MIM:600889"
     exon            1..201
                     /gene="CFHR2"
                     /gene_synonym="CFHL2; FHR2; HFL3"
                     /inference="alignment:Splign:2.1.0"
     CDS             144..956
                     /gene="CFHR2"
                     /gene_synonym="CFHL2; FHR2; HFL3"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; factor H-related gene 2; H factor
                     (complement)-like 3; h factor-like protein 2; FHR-2;
                     DDESK59; h factor-like 3"
                     /codon_start=1
                     /product="complement factor H-related protein 2 isoform 1
                     precursor"
                     /protein_id="NP_005657.1"
                     /db_xref="CCDS:CCDS30959.1"
                     /db_xref="GeneID:3080"
                     /db_xref="HGNC:HGNC:4890"
                     /db_xref="MIM:600889"
                     /translation="MWLLVSVILISRISSVGGEAMFCDFPKINHGILYDEEKYKPFSQ
                     VPTGEVFYYSCEYNFVSPSKSFWTRITCAEEGWSPTPKCLRLCFFPFVENGHSESSGQ
                     THLEGDTVQIICNTGYRLQNNENNISCVERGWSTPPKCRSTISAEKCGPPPPIDNGDI
                     TSFLLSVYAPGSSVEYQCQNLYQLEGNNQITCRNGQWSEPPKCLDPCVISQEIMEKYN
                     IKLKWTNQQKLYSRTGDIVEFVCKSGYHPTKSHSFRAMCQNGKLVYPSCEEK"
     exon            202..396
                     /gene="CFHR2"
                     /gene_synonym="CFHL2; FHR2; HFL3"
                     /inference="alignment:Splign:2.1.0"
     exon            397..573
                     /gene="CFHR2"
                     /gene_synonym="CFHL2; FHR2; HFL3"
                     /inference="alignment:Splign:2.1.0"
     exon            574..756
                     /gene="CFHR2"
                     /gene_synonym="CFHL2; FHR2; HFL3"
                     /inference="alignment:Splign:2.1.0"
     exon            757..1498
                     /gene="CFHR2"
                     /gene_synonym="CFHL2; FHR2; HFL3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1064..1069
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFHR2"
                     /gene_synonym="CFHL2; FHR2; HFL3"
                     /note="hexamer: AATAAA"
     polyA_site      1096
                     /gene="CFHR2"
                     /gene_synonym="CFHL2; FHR2; HFL3"
                     /note="major polyA site"
     regulatory      1317..1322
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFHR2"
                     /gene_synonym="CFHL2; FHR2; HFL3"
                     /note="hexamer: ATTAAA"
     polyA_site      1339
                     /gene="CFHR2"
                     /gene_synonym="CFHL2; FHR2; HFL3"
ORIGIN      
        1 accacaaagg actttactaa actagcttcc agttagtaca ctgaaattca aagtcatgct
       61 cataactgtt aatgaaagca gattcaaagc aacaccacca ccactgaagt atttttagtt
      121 atataagatt ggaactacca agcatgtggc tcctggtcag tgtaattcta atctcacgga
      181 tatcctctgt tgggggagaa gcaatgttct gtgattttcc aaaaataaac catggaattc
      241 tatatgatga agaaaaatat aagccatttt cccaagttcc tacaggggaa gttttctatt
      301 actcctgtga atataatttt gtgtctcctt caaaatcctt ttggactcgc ataacgtgcg
      361 cagaagaagg atggtcacca acaccaaagt gtctcagact gtgtttcttt ccttttgtgg
      421 aaaatggtca ttctgaatct tcaggacaaa cacatctgga aggtgatact gtacaaatta
      481 tttgcaacac aggatacaga cttcaaaaca atgagaacaa catttcatgt gtagaacggg
      541 gctggtccac tcctcccaaa tgcaggtcca ctatttctgc agaaaaatgt gggccccctc
      601 cacctattga caatggagac attacttcat tcctgttgtc agtatatgct ccaggttcat
      661 cagttgagta ccagtgccag aacttgtatc aacttgaggg taacaatcaa ataacatgta
      721 gaaacggaca atggtcagaa ccaccaaaat gcttagatcc atgtgtaata tcacaagaaa
      781 ttatggaaaa atataacata aaattaaagt ggacaaacca acaaaagctt tattcaagaa
      841 caggtgacat agttgaattt gtttgtaaat ctggatatca tccaacaaaa tctcattcat
      901 ttcgagcaat gtgtcagaat gggaaactgg tatatcccag ttgtgaagaa aaatagaatc
      961 aatggcatta ctattagtaa aatgcacacc tttttctgaa tttactatta tatttgtttt
     1021 caatttcatt tttcaagtac tgttttactc atttttattc ataaataaag ttttgtgttg
     1081 atttgtgaaa atgcaattac aatctgagat gtgtcacaat ggtgaggact atcttcacca
     1141 aatctaagta acaacctagg aattgtcttt ttttttcttt ttaaaaaaat tgacaataac
     1201 tgtatatatt catggagtac atagtaatgt ttccatatat ataatgtata atggtcagtt
     1261 agggtaatta gtatatccat tatctcaaac atttttcatt tctttgggtt aggagcatta
     1321 aatattctcc ttccagctat ttggtacttc atagtatatt actggtaact gaaggaatta
     1381 tatctagacg ttaccccagg tatcttgaaa tgtcaattcc taacagtcac agcctgggag
     1441 ctcatgtttg ccttctttca gagcttgtaa ctatgtatat ccacataaat aatcaaaa
//
