LOCUS       NM_001099667             818 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens age-related maculopathy susceptibility 2 (ARMS2),
            mRNA.
ACCESSION   NM_001099667 XM_001131263 XM_001131282
VERSION     NM_001099667.3
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 818)
  AUTHORS   Agron,E., Domalpally,A., Cukras,C.A., Chew,E.Y. and Keenan,T.D.L.
  CONSRTM   Age-Related Eye Disease Study 2 Research Group
  TITLE     Critical Dependence on Area in Relationship between ARMS2/HTRA1
            Genotype and Faster Geographic Atrophy Enlargement: Age-Related Eye
            Disease Study 2 Report Number 33
  JOURNAL   Ophthalmology 131 (2), 208-218 (2024)
   PUBMED   37717737
  REMARK    GeneRIF: Critical Dependence on Area in Relationship between
            ARMS2/HTRA1 Genotype and Faster Geographic Atrophy Enlargement:
            Age-Related Eye Disease Study 2 Report Number 33.
REFERENCE   2  (bases 1 to 818)
  AUTHORS   Pan,Y., Fu,Y., Baird,P.N., Guymer,R.H., Das,T. and Iwata,T.
  TITLE     Exploring the contribution of ARMS2 and HTRA1 genetic risk factors
            in age-related macular degeneration
  JOURNAL   Prog Retin Eye Res 97, 101159 (2023)
   PUBMED   36581531
  REMARK    GeneRIF: Exploring the contribution of ARMS2 and HTRA1 genetic risk
            factors in age-related macular degeneration.
            Review article
REFERENCE   3  (bases 1 to 818)
  AUTHORS   Giannopoulos,K., Gazouli,M., Chatzistefanou,K., Gouliopoulos,N.,
            Lavaris,A., Bakouli,A. and Moschos,M.M.
  TITLE     Associations of ARMS2 and NR3C2 genes polymorphisms with central
            serous chorioretinopathy in a Greek population
  JOURNAL   Eur J Ophthalmol 33 (5), 1860-1866 (2023)
   PUBMED   36734065
  REMARK    GeneRIF: Associations of ARMS2 and NR3C2 genes polymorphisms with
            central serous chorioretinopathy in a Greek population.
REFERENCE   4  (bases 1 to 818)
  AUTHORS   Huang,B.B. and Fawzi,A.A.
  TITLE     Disentangling the Impact of Reticular Pseudodrusen Phenotype and
            the ARMS2/HTRA1 Risk Allele in Geographic Atrophy: The AREDS 2
            Study Report 32
  JOURNAL   Ophthalmology 130 (5), 460-461 (2023)
   PUBMED   37085233
  REMARK    GeneRIF: Disentangling the Impact of Reticular Pseudodrusen
            Phenotype and the ARMS2/HTRA1 Risk Allele in Geographic Atrophy:
            The AREDS 2 Study Report 32.
REFERENCE   5  (bases 1 to 818)
  AUTHORS   Agron,E., Domalpally,A., Cukras,C.A., Clemons,T.E., Chen,Q.,
            Swaroop,A., Lu,Z., Chew,E.Y. and Keenan,T.D.L.
  CONSRTM   AREDS and AREDS2 Research Groups
  TITLE     Reticular Pseudodrusen Status, ARMS2/HTRA1 Genotype, and Geographic
            Atrophy Enlargement: Age-Related Eye Disease Study 2 Report 32
  JOURNAL   Ophthalmology 130 (5), 488-500 (2023)
   PUBMED   36481221
  REMARK    GeneRIF: Reticular Pseudodrusen Status, ARMS2/HTRA1 Genotype, and
            Geographic Atrophy Enlargement: Age-Related Eye Disease Study 2
            Report 32.
REFERENCE   6  (bases 1 to 818)
  AUTHORS   Kortvely,E., Hauck,S.M., Behler,J., Ho,N. and Ueffing,M.
  TITLE     The unconventional secretion of ARMS2
  JOURNAL   Hum Mol Genet 25 (15), 3143-3151 (2016)
   PUBMED   27270414
  REMARK    GeneRIF: this work we show that ARMS2 is externalized via an
            unconventional pathway bypassing Golgi.
REFERENCE   7  (bases 1 to 818)
  AUTHORS   Schmidt,S., Hauser,M.A., Scott,W.K., Postel,E.A., Agarwal,A.,
            Gallins,P., Wong,F., Chen,Y.S., Spencer,K., Schnetz-Boutaud,N.,
            Haines,J.L. and Pericak-Vance,M.A.
  TITLE     Cigarette smoking strongly modifies the association of LOC387715
            and age-related macular degeneration
  JOURNAL   Am J Hum Genet 78 (5), 852-864 (2006)
   PUBMED   16642439
  REMARK    GeneRIF: Our results strongly implicate a coding change (Ala69Ser)
            in the LOC387715 gene as the second major identified
            AMD-susceptibility allele, confirming earlier suggestions. This
            variant's effect on AMD is statistically independent of CFH .
REFERENCE   8  (bases 1 to 818)
  AUTHORS   Shastry,B.S.
  TITLE     Further support for the common variants in complement factor H
            (Y402H) and LOC387715 (A69S) genes as major risk factors for the
            exudative age-related macular degeneration
  JOURNAL   Ophthalmologica 220 (5), 291-295 (2006)
   PUBMED   16954704
  REMARK    GeneRIF: Results further support the notion that CFH (complement
            factor H) and LOC387715 genes are the major risk factors for ARMD.
REFERENCE   9  (bases 1 to 818)
  AUTHORS   Rivera,A., Fisher,S.A., Fritsche,L.G., Keilhauer,C.N., Lichtner,P.,
            Meitinger,T. and Weber,B.H.
  TITLE     Hypothetical LOC387715 is a second major susceptibility gene for
            age-related macular degeneration, contributing independently of
            complement factor H to disease risk
  JOURNAL   Hum Mol Genet 14 (21), 3227-3236 (2005)
   PUBMED   16174643
  REMARK    GeneRIF: Hypothetical LOC387715 is a second major susceptibility
            gene for age-related macular degeneration, contributing
            independently of complement factor H to disease risk.
REFERENCE   10 (bases 1 to 818)
  AUTHORS   Jakobsdottir,J., Conley,Y.P., Weeks,D.E., Mah,T.S., Ferrell,R.E.
            and Gorin,M.B.
  TITLE     Susceptibility genes for age-related maculopathy on chromosome
            10q26
  JOURNAL   Am J Hum Genet 77 (3), 389-407 (2005)
   PUBMED   16080115
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB997927.1, BC090924.1 and
            BC066349.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001099667.2.
            
            Summary: This gene encodes a small secreted protein specific to
            primates. This protein is a component of the choroidal
            extracellular matrix of the eye. Mutations in this gene are
            associated with age-related macular degeneration. [provided by
            RefSeq, Sep 2017].
            
            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 :: BC090924.1, CB997927.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000528446.1/
                                                  ENSP00000436682.1
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-83                CB997927.1         28-110
            84-771              BC090924.1         72-759
            772-818             BC066349.1         760-806
FEATURES             Location/Qualifiers
     source          1..818
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.13"
     gene            1..818
                     /gene="ARMS2"
                     /gene_synonym="ARMD8"
                     /note="age-related maculopathy susceptibility 2"
                     /db_xref="GeneID:387715"
                     /db_xref="HGNC:HGNC:32685"
                     /db_xref="MIM:611313"
     exon            1..372
                     /gene="ARMS2"
                     /gene_synonym="ARMD8"
                     /inference="alignment:Splign:2.1.0"
     CDS             76..399
                     /gene="ARMS2"
                     /gene_synonym="ARMD8"
                     /codon_start=1
                     /product="age-related maculopathy susceptibility protein
                     2"
                     /protein_id="NP_001093137.1"
                     /db_xref="CCDS:CCDS53585.1"
                     /db_xref="GeneID:387715"
                     /db_xref="HGNC:HGNC:32685"
                     /db_xref="MIM:611313"
                     /translation="MLRLYPGPMVTEAEGKGGPEMASLSSSVVPVSFISTLRESVLDP
                     GVGGEGASDKQRSKLSLSHSMIPAAKIHTELCLPAFFSPAGTQRRFQQPQHHLTLSII
                     HTAAR"
     exon            373..818
                     /gene="ARMS2"
                     /gene_synonym="ARMD8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      794..799
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARMS2"
                     /gene_synonym="ARMD8"
                     /note="hexamer: AATAAA"
     polyA_site      818
                     /gene="ARMS2"
                     /gene_synonym="ARMD8"
                     /note="major polyA site"
ORIGIN      
        1 ctggctgagt gagatggcag ctggcttggc aaggggacag cacctttgtc accacattat
       61 gtccctgtac cctacatgct gcgcctatac ccaggaccga tggtaactga ggcggagggg
      121 aaaggagggc ctgagatggc aagtctgtcc tcctcggtgg ttcctgtgtc cttcatttcc
      181 actctgcgag agtctgtgct ggaccctgga gttggtggag aaggagccag tgacaagcag
      241 aggagcaaac tgtctttatc acactccatg atcccagctg ctaaaatcca cactgagctc
      301 tgcttaccag ccttcttctc tcctgctgga acccagagga ggttccagca gcctcagcac
      361 cacctgacac tgtctatcat ccacactgca gcaaggtgat tctgccaaaa catatctcct
      421 taaaagccaa ctggagcttc tcatcagcat caatgtgaag ccaaaaatcc ttaggaggac
      481 agagggagtc cctcacaacc tagactggtc cccttccctc cagctgcctc aactgtccac
      541 aggactctct tcccacctgc ggccacactg tgcaacctgg aatttcccca cctgggcgga
      601 ctcatcacgt catcaccaat tggatgcatc ttctgctctg tgcagctggt gaaatctttc
      661 tcaacccttg agatgcagcc caatcttctc ctaacatctg gattcctctc tgtcactgca
      721 ttccctcctg tcatcctgcc tttgttttct tgccctcctt tctctcccgg gtgataggca
      781 ttaactaaaa ttaaataaaa attcagatca tccttgca
//
