LOCUS       NM_001080516            2005 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens glutaredoxin and cysteine rich domain containing 2
            (GRXCR2), mRNA.
ACCESSION   NM_001080516 XM_926586
VERSION     NM_001080516.2
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 2005)
  AUTHORS   Wonkam,A., Lebeko,K., Mowla,S., Noubiap,J.J., Chong,M. and Pare,G.
  TITLE     Whole exome sequencing reveals a biallelic frameshift mutation in
            GRXCR2 in hearing impairment in Cameroon
  JOURNAL   Mol Genet Genomic Med 9 (3), e1609 (2021)
   PUBMED   33528103
  REMARK    GeneRIF: Whole exome sequencing reveals a biallelic frameshift
            mutation in GRXCR2 in hearing impairment in Cameroon.
REFERENCE   2  (bases 1 to 2005)
  AUTHORS   Avenarius,M.R., Jung,J.Y., Askew,C., Jones,S.M., Hunker,K.L.,
            Azaiez,H., Rehman,A.U., Schraders,M., Najmabadi,H., Kremer,H.,
            Smith,R.J.H., Geleoc,G.S.G., Dolan,D.F., Raphael,Y. and
            Kohrman,D.C.
  TITLE     Grxcr2 is required for stereocilia morphogenesis in the cochlea
  JOURNAL   PLoS One 13 (8), e0201713 (2018)
   PUBMED   30157177
  REMARK    GeneRIF: GRXCR2 plays an intrinsic role in bundle orientation,
            organization, and sensory function in the inner ear during
            development and at maturity
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2005)
  AUTHORS   Imtiaz,A., Kohrman,D.C. and Naz,S.
  TITLE     A frameshift mutation in GRXCR2 causes recessively inherited
            hearing loss
  JOURNAL   Hum Mutat 35 (5), 618-624 (2014)
   PUBMED   24619944
  REMARK    GeneRIF: ur results indicate that GRXCR2 should be considered in
            differential genetic diagnosis for individuals with early onset,
            moderate-to-severe and progressive hearing loss.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011359.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 4, 2020 this sequence version replaced NM_001080516.1.
            
            Summary: This gene encodes a protein containing a glutaredoxin
            domain, which functions in protein S-glutathionylation. A mutation
            in this gene was found in a family with autoosomal recessive
            nonsyndromic sensorineural deafness-101. [provided by RefSeq, Jun
            2014].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.4243316.1,
                                           SRR14038192.3867285.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377976.3/ ENSP00000367214.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-382               AC011359.5         115087-115468
            383-610             AC011359.5         121373-121600
            611-2005            AC011359.5         128186-129580
FEATURES             Location/Qualifiers
     source          1..2005
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     gene            1..2005
                     /gene="GRXCR2"
                     /gene_synonym="DFNB101"
                     /note="glutaredoxin and cysteine rich domain containing 2"
                     /db_xref="GeneID:643226"
                     /db_xref="HGNC:HGNC:33862"
                     /db_xref="MIM:615762"
     exon            1..382
                     /gene="GRXCR2"
                     /gene_synonym="DFNB101"
                     /inference="alignment:Splign:2.1.0"
     CDS             47..793
                     /gene="GRXCR2"
                     /gene_synonym="DFNB101"
                     /note="GRXCR1-like protein; glutaredoxin domain-containing
                     cysteine-rich protein 1-like protein; glutaredoxin,
                     cysteine rich 2"
                     /codon_start=1
                     /product="glutaredoxin domain-containing cysteine-rich
                     protein 2"
                     /protein_id="NP_001073985.1"
                     /db_xref="CCDS:CCDS34263.1"
                     /db_xref="GeneID:643226"
                     /db_xref="HGNC:HGNC:33862"
                     /db_xref="MIM:615762"
                     /translation="MEDPEKKLNQKSDGKPRKVRFKISSSYSGRVLKQVFEDGQELES
                     PKEEYPHSFLQESLETMDGVYGSGEVPRPQMCSPKLTAQRISVFREGNAYTLAGGQPR
                     FNDYKANDHKPLPIIDFGKIIIYTNNLKIIRTPMDKRDFVRKILQKEEEAEEESLMNK
                     EESYGGRDQHDRPLVEAESTLPQNRYTQEGDIPEDSCFHCRGSGSATCSLCHGSKFSM
                     LANRFKESYRALRCPACNENGLQPCQICNQ"
     exon            383..610
                     /gene="GRXCR2"
                     /gene_synonym="DFNB101"
                     /inference="alignment:Splign:2.1.0"
     exon            611..2005
                     /gene="GRXCR2"
                     /gene_synonym="DFNB101"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 accggctgca cggaaggctg gagaccacag ggtcaacttt ctgctgatgg aggaccctga
       61 gaaaaagctg aatcagaaga gtgatggcaa accccggaaa gtacgattta aaatctcctc
      121 ctcctacagc ggtcgagtat tgaagcaggt ctttgaggat gggcaggaat tagagtcacc
      181 aaaggaggaa taccctcaca gttttctgca agagtctctt gaaacaatgg atggtgttta
      241 tgggtctggg gaagtcccca ggccccagat gtgctcccct aagctgactg ctcagaggat
      301 cagtgtgttt agagagggta atgcctacac cttggcaggc ggccagcctc ggttcaacga
      361 ttacaaggcg aatgaccata agcccctacc tattatagat tttggaaaga taatcatcta
      421 cactaataac ctgaaaatca ttcgaacccc aatggacaag agagattttg tgaggaaaat
      481 tctccagaag gaagaggagg ctgaggaaga gtctctgatg aacaaagaag aaagctatgg
      541 aggcagggac cagcacgata gacctttggt ggaggcagaa agcacattac cccaaaaccg
      601 gtatacacag gaaggggata ttcccgagga cagctgtttt cactgccgag ggtcgggcag
      661 tgccacctgc tctctgtgcc acggcagcaa gttctcgatg ctggccaaca gatttaagga
      721 gtcctatcgg gccctgaggt gccctgcctg caatgagaat ggcctacagc cttgccagat
      781 ttgcaatcaa tagcccgtgg cttttgcatg tccactgtta tcttaccctc cctaaagtta
      841 tttctaataa accgccccct tctcctcctc ctgcctctcc caacaaggag gccacagtgg
      901 ctgcagtcac tcccactgct ggcaaaactc aattatctga tgacattttg tgaggccggt
      961 aacatctctc tgtgggtcta agtggcaggg gcatttctga attatagtct gctttgaaac
     1021 tggttctaaa attatccttc caggatggtg tgagtgtatc tcacttgact tagctcagtt
     1081 ttcttcttgc ttcagtgagc aaatacatgt acacttcagg catcaggttg ggagttattt
     1141 tgcaaaatta tgtggtgaga aaggagtaaa aaaggcaggt ttctgatgaa ctgatttctt
     1201 gttgcttata atgcatctca tgtgattatt agtcaaactg aatttctgat taagcagaag
     1261 aggaaacgga cagccaacgc tgaacgcact agcaggccac agcaagcaaa atgggatgtt
     1321 cactgtggag acaggcaagc caaggagcct tccctttcaa agtcctgaac ctcttccatg
     1381 tggtgtgttt ggataatatt tatgcagaca gtgagcaata ctatttctta agtcaagatg
     1441 agataagaca tttttgtgtg cctctaacta ctgaggttat aagccaagtc aaagttattt
     1501 atgataaatt tggtgctcaa atatgtgtgt atgatataac ttcttcgagc ccctgaatta
     1561 ctaccaaata aataaatcca ctttaagtct agaacctagc catgatctct tcataaagga
     1621 ctgcaggtat tttatagatt acctactgga aatctctaaa agaaaaaaat taaccaaggc
     1681 tgatttttag cagtaatgtt tctactatcc atgaatatgc atagtaagga tgattctttc
     1741 ctcttgaggt tggttataaa attagaacat acttttgtta atgaactttt atagctctaa
     1801 cacccactcc ccaagcccct taagaataac actgcaaaat ttatctcttg agacctgctg
     1861 cattctgtga taataatttt gatttcataa cttaataatt tctcaagatt tgtttgttat
     1921 tctctaatat tcagcgttta acataattta acaatggaat gcttttcagg caatataaat
     1981 aattctaata aaaaagacta aaata
//
