LOCUS       NM_021619               2478 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens PR/SET domain 12 (PRDM12), mRNA.
ACCESSION   NM_021619
VERSION     NM_021619.3
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 2478)
  AUTHORS   Elsana,B., Imtirat,A., Yagev,R., Gradstein,L., Majdalani,P.,
            Iny,O., Parvari,R. and Tsumi,E.
  TITLE     Ocular manifestations among patients with congenital insensitivity
            to pain due to variants in PRDM12 and SCN9A genes
  JOURNAL   Am J Med Genet A 188 (12), 3463-3468 (2022)
   PUBMED   36111846
  REMARK    GeneRIF: Ocular manifestations among patients with congenital
            insensitivity to pain due to variants in PRDM12 and SCN9A genes.
REFERENCE   2  (bases 1 to 2478)
  AUTHORS   Rienzo,M., Di Zazzo,E., Casamassimi,A., Gazzerro,P., Perini,G.,
            Bifulco,M. and Abbondanza,C.
  TITLE     PRDM12 in Health and Diseases
  JOURNAL   Int J Mol Sci 22 (21), 12030 (2021)
   PUBMED   34769459
  REMARK    GeneRIF: PRDM12 in Health and Diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2478)
  AUTHORS   Moss,C., Srinivas,S.M., Sarveswaran,N., Nahorski,M., Gowda,V.K.,
            Browne,F.M. and Woods,G.
  TITLE     Midface toddler excoriation syndrome (MiTES) can be caused by
            autosomal recessive biallelic mutations in a gene for congenital
            insensitivity to pain, PRDM12
  JOURNAL   Br J Dermatol 179 (5), 1135-1140 (2018)
   PUBMED   29949203
  REMARK    GeneRIF: Study in five further children, from four families, with
            facial lesions typical of midface toddler excoriation syndrome
            (MiTES) found autosomal recessive mutations in PRDM12 in four of
            five patients and extended the phenotypic spectrum of PRDM12
            mutations, which usually cause hereditary sensory and autonomic
            neuropathy type VIII, characterized by mutilating self-inflicted
            wounds of the extremities, lips and tongue.
REFERENCE   4  (bases 1 to 2478)
  AUTHORS   Saini,A.G., Padmanabh,H., Sahu,J.K., Kurth,I., Voigt,M. and
            Singhi,P.
  TITLE     Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global
            Developmental Delay due to Novel Mutation in PRDM12 Gene
  JOURNAL   Indian J Pediatr 84 (4), 332-333 (2017)
   PUBMED   28050684
REFERENCE   5  (bases 1 to 2478)
  AUTHORS   Fog,C.K., Galli,G.G. and Lund,A.H.
  TITLE     PRDM proteins: important players in differentiation and disease
  JOURNAL   Bioessays 34 (1), 50-60 (2012)
   PUBMED   22028065
  REMARK    Review article
REFERENCE   6  (bases 1 to 2478)
  AUTHORS   Reid,A.G. and Nacheva,E.P.
  TITLE     A potential role for PRDM12 in the pathogenesis of chronic myeloid
            leukaemia with derivative chromosome 9 deletion
  JOURNAL   Leukemia 18 (1), 178-180 (2004)
   PUBMED   14523459
  REMARK    GeneRIF: Down-regulation of PRDM12 is associated with the
            pathogenesis of chronic myeloid leukaemia with derivative
            chromosome 9 deletion
REFERENCE   7  (bases 1 to 2478)
  AUTHORS   Kolomietz,E., Marrano,P., Yee,K., Thai,B., Braude,I., Kolomietz,A.,
            Chun,K., Minkin,S., Kamel-Reid,S., Minden,M. and Squire,J.A.
  TITLE     Quantitative PCR identifies a minimal deleted region of 120 kb
            extending from the Philadelphia chromosome ABL translocation
            breakpoint in chronic myeloid leukemia with poor outcome
  JOURNAL   Leukemia 17 (7), 1313-1323 (2003)
   PUBMED   12835719
REFERENCE   8  (bases 1 to 2478)
  AUTHORS   Kontrogianni-Konstantopoulos,A., Frye,C.S., Benz,E.J. Jr. and
            Huang,S.C.
  TITLE     The prototypical 4.1R-10-kDa domain and the 4.1g-10-kDa paralog
            mediate fodrin-actin complex formation
  JOURNAL   J Biol Chem 276 (23), 20679-20687 (2001)
   PUBMED   11274145
REFERENCE   9  (bases 1 to 2478)
  AUTHORS   Jiang,G.L. and Huang,S.
  TITLE     The yin-yang of PR-domain family genes in tumorigenesis
  JOURNAL   Histol Histopathol 15 (1), 109-117 (2000)
   PUBMED   10668202
  REMARK    Review article
REFERENCE   10 (bases 1 to 2478)
  AUTHORS   Schon,K.R., Parker,A.P.J. and Woods,C.G.
  TITLE     Congenital Insensitivity to Pain Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29419974
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY004252.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_021619.2.
            
            Summary: This gene encodes a transcriptional regulator of sensory
            neuronal specification that plays a critical role in pain
            perception. The encoded protein contains an N-terminal PRDI-BF1 and
            RIZ homology (PR) domain, a SET domain, and three C-terminal C2H2
            zinc finger DNA-binding domains. Naturally occurring mutations in
            this gene are associated with congenital insensitivity to pain
            (CIP), and hereditary sensory and autonomic neuropathies (HSAN's)
            affecting peripheral sensory and autonomic neurons. Deregulation of
            this gene is associated with solid cancers and hematological
            malignancies including chronic myeloid leukaemia. [provided by
            RefSeq, Mar 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 :: AY004252.2 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000253008.3/ ENSP00000253008.2
            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
            1-2478              AY004252.2         1-2478
FEATURES             Location/Qualifiers
     source          1..2478
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.12"
     gene            1..2478
                     /gene="PRDM12"
                     /gene_synonym="HSAN8; PFM9"
                     /note="PR/SET domain 12"
                     /db_xref="GeneID:59335"
                     /db_xref="HGNC:HGNC:13997"
                     /db_xref="MIM:616458"
     exon            1..283
                     /gene="PRDM12"
                     /gene_synonym="HSAN8; PFM9"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..1164
                     /gene="PRDM12"
                     /gene_synonym="HSAN8; PFM9"
                     /note="PR domain containing 12"
                     /codon_start=1
                     /product="PR domain zinc finger protein 12"
                     /protein_id="NP_067632.2"
                     /db_xref="CCDS:CCDS6934.1"
                     /db_xref="GeneID:59335"
                     /db_xref="HGNC:HGNC:13997"
                     /db_xref="MIM:616458"
                     /translation="MMGSVLPAEALVLKTGLKAPGLALAEVITSDILHSFLYGRWRNV
                     LGEQLFEDKSHHASPKTAFTAEVLAQSFSGEVQKLSSLVLPAEVIIAQSSIPGEGLGI
                     FSKTWIKAGTEMGPFTGRVIAPEHVDICKNNNLMWEVFNEDGTVRYFIDASQEDHRSW
                     MTYIKCARNEQEQNLEVVQIGTSIFYKAIEMIPPDQELLVWYGNSHNTFLGIPGVPGL
                     EEDQKKNKHEDFHPADSAAGPAGRMRCVICHRGFNSRSNLRSHMRIHTLDKPFVCRFC
                     NRRFSQSSTLRNHVRLHTGERPYKCQVCQSAYSQLAGLRAHQKSARHRPPSTALQAHS
                     PALPAPHAHAPALAAAAAAAAAAAAHHLPAMVL"
     exon            284..474
                     /gene="PRDM12"
                     /gene_synonym="HSAN8; PFM9"
                     /inference="alignment:Splign:2.1.0"
     exon            475..630
                     /gene="PRDM12"
                     /gene_synonym="HSAN8; PFM9"
                     /inference="alignment:Splign:2.1.0"
     exon            631..742
                     /gene="PRDM12"
                     /gene_synonym="HSAN8; PFM9"
                     /inference="alignment:Splign:2.1.0"
     exon            743..2478
                     /gene="PRDM12"
                     /gene_synonym="HSAN8; PFM9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2455..2460
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRDM12"
                     /gene_synonym="HSAN8; PFM9"
                     /note="hexamer: AATAAA"
     polyA_site      2478
                     /gene="PRDM12"
                     /gene_synonym="HSAN8; PFM9"
                     /note="major polyA site"
ORIGIN      
        1 cccgcccacc tcccccgtcg gcccggccgt cccccggcgc cggggagctc cgggccgccc
       61 atgatgggct ccgtgctccc ggctgaggcc ctggtgctca agaccgggct gaaggcgccg
      121 ggactggcgc tggccgaggt tatcacctcc gacatcctgc acagcttcct gtacggccgc
      181 tggcgcaacg tgctcgggga gcagctcttc gaggacaaga gccaccacgc cagccccaag
      241 acagccttca ccgccgaggt gctggcgcag tccttctccg gcgaagtgca gaagctgtcc
      301 agcctggtgc tgcctgcgga ggtgatcatc gctcagagct ccatccctgg cgagggcctc
      361 ggcatcttct ccaagacgtg gatcaaggcg ggaaccgaga tgggcccctt caccggccgc
      421 gtgatcgccc cggagcacgt ggacatctgc aagaacaaca acctcatgtg ggaggtgttc
      481 aatgaggatg gcacggtgcg ctacttcatc gatgccagcc aggaggacca ccggagctgg
      541 atgacctaca tcaagtgtgc acgtaacgaa caggagcaga acctggaggt ggtccagatc
      601 ggcaccagca tcttctacaa ggccattgag atgatcccac ctgaccagga actgctggtg
      661 tggtacggaa actcacacaa caccttcctg gggatcccag gtgtgcccgg gctagaggag
      721 gaccagaaaa agaacaagca tgaggacttc cacccggcgg actcggcggc tggccccgcg
      781 ggccgcatgc gatgcgtcat ctgccaccgc ggcttcaact cgcgcagcaa cctgcgctcg
      841 cacatgcgca tccacacgct ggacaagccc ttcgtgtgcc gcttctgcaa ccgccgcttc
      901 agccagtcgt ccacgctgcg caaccacgtg cgcctgcaca cgggcgagcg cccctacaag
      961 tgccaggtgt gccagagcgc ctactcgcag ctggccggcc tgcgcgccca ccagaagagc
     1021 gcgcggcacc ggccgcccag caccgcgctg caggcacact cgcccgcgct gcccgccccg
     1081 cacgcgcacg cgcccgcgct cgccgccgcc gccgccgccg ccgccgccgc cgccgcgcac
     1141 cacctgccgg ccatggtgct gtgagcgcgc ccgcgccccc gccgggcccc gcgcgctcct
     1201 gggtccccgg caccccggcc ccgcagcgcg actcgccctc cagccccaac ccccggcccg
     1261 gcgccgccgc ggagccccgc gcgctggggt tgcgccccgg aggcggatct caggcacccc
     1321 cgccttggcc cgtgtcgcag atgaggacac tgagggcggc gtccctcacc caggccacgc
     1381 agctggtgcg gctgttcggc cgcctcctct gggagggggt ccccctgcct ggcctcgccc
     1441 ccgagtctcc ctgctgctgt agagccgggc gcccaggccg gcatccccct cgtgggtggc
     1501 aggagagcgg acttagagcc cccgagggcc cctcagcaga ggaaggggag tcccctcctc
     1561 cgccaccgag agtcctgtgc ttcggaatga agggagggcg acctccttgt ccgggtgtgg
     1621 tcgggcgcgg gggttgtggg ggcgccatct cctcttccgg cccctgggac tggtgtcctg
     1681 aagtgtcggg agtccttacg caaccttgac atgtgcgggc tactggggtc catcggcagc
     1741 gggaagagac ccggagagat gcatcttctg ggcccttctc tcctttaggc cagcttaccc
     1801 ccaaacctgg ctcctgggga cggatgagga aggagctctt tgcagtgcac caggcacgtt
     1861 gagagtggag gcacaatgga aatcctctgt gggaccccga gcaagaccct gcacctcttt
     1921 gggcctcagt ttccccatct gtaaaatgaa ggagttggac caatgccccc tccccttcag
     1981 ctgtgacatc gtgcctggga aggcgaaata tacccccagc cccttccaac acacacactc
     2041 cagcgagagg agggcaagac tggaaccgct gcccgagagg ttaaggtggc ttctgtggcc
     2101 acgaagcgct tccgagctgt gcccagtccc gggaattccg cccagtctgc ccacacttcc
     2161 ctcggtccct gcccgtttcc tcaaattcgg gccgtgcgcg ccctctggtg tcgcctctca
     2221 cactttgcag tcatttacca ggattcccgt agggcgtttt gtaaaataaa ctataatatt
     2281 aatgaaaagt ataaaatgta tagagttttc aagaaactgc gttctacttc cagaagatgg
     2341 tcactttaac cttgtaaata tttatctaaa atgatattta caaaactgta atatattatt
     2401 atttgattgt atatgtacaa ctgtaaatac atttgtacct ctcttgtatt ctaaaataaa
     2461 aattacttgg aacattta
//
