LOCUS       NM_001364564            4861 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens spalt like transcription factor 2 (SALL2), transcript
            variant 6, mRNA.
ACCESSION   NM_001364564
VERSION     NM_001364564.1
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 4861)
  AUTHORS   Imai,A., Mochizuki,D., Misawa,Y., Nakagawa,T., Endo,S., Mima,M.,
            Yamada,S., Kawasaki,H., Kanazawa,T. and Misawa,K.
  TITLE     SALL2 Is a Novel Prognostic Methylation Marker in Patients with
            Oral Squamous Carcinomas: Associations with SALL1 and SALL3
            Methylation Status
  JOURNAL   DNA Cell Biol 38 (7), 678-687 (2019)
   PUBMED   31188017
  REMARK    GeneRIF: SALL2 methylation statistically correlated with a decrease
            in disease free survival in patients with oral squamous carcinoma.
REFERENCE   2  (bases 1 to 4861)
  AUTHORS   Wang,Y., Liu,J., Liu,Z., Chen,J., Hu,X., Hu,Y., Yuan,Y., Wu,G.,
            Dai,Z. and Xu,Y.
  TITLE     Sall2 knockdown exacerbates palmitic acid induced dysfunction and
            apoptosis of pancreatic NIT-1 beta cells
  JOURNAL   Biomed Pharmacother 104, 375-382 (2018)
   PUBMED   29783189
  REMARK    GeneRIF: Sall2 may play a significant role in NIT-1 cell function.
REFERENCE   3  (bases 1 to 4861)
  AUTHORS   Miao,F., Zhang,X., Cao,Y., Wang,Y. and Zhang,X.
  TITLE     Effect of siRNA-silencing of SALL2 gene on growth, migration and
            invasion of human ovarian carcinoma A2780 cells
  JOURNAL   BMC Cancer 17 (1), 838 (2017)
   PUBMED   29228922
  REMARK    GeneRIF: Using RNA interference, the role of Spalt-like gene-2
            (SALL2) was investigated in human ovarian carcinoma (OC) A2780
            cells. Found downregulation of SALL2 promoted growth of the OC cell
            line.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4861)
  AUTHORS   Hermosilla,V.E., Hepp,M.I., Escobar,D., Farkas,C., Riffo,E.N.,
            Castro,A.F. and Pincheira,R.
  TITLE     Developmental SALL2 transcription factor: a new player in cancer
  JOURNAL   Carcinogenesis 38 (7), 680-690 (2017)
   PUBMED   28430874
  REMARK    GeneRIF: Understanding SALL2 function and the molecular mechanisms
            governing its expression and activity is critical to comprehend why
            and how SALL2 could contribute to disease. This knowledge will open
            new perspectives for the development of molecular targeted
            approaches in disease
REFERENCE   5  (bases 1 to 4861)
  AUTHORS   Kelberman,D., Islam,L., Lakowski,J., Bacchelli,C., Chanudet,E.,
            Lescai,F., Patel,A., Stupka,E., Buck,A., Wolf,S., Beales,P.L.,
            Jacques,T.S., Bitner-Glindzicz,M., Liasis,A., Lehmann,O.J.,
            Kohlhase,J., Nischal,K.K. and Sowden,J.C.
  TITLE     Mutation of SALL2 causes recessive ocular coloboma in humans and
            mice
  JOURNAL   Hum Mol Genet 23 (10), 2511-2526 (2014)
   PUBMED   24412933
  REMARK    GeneRIF: A role for SALL2 in eye morphogenesis and loss of function
            of the gene causes ocular coloboma in humans and mice.
REFERENCE   6  (bases 1 to 4861)
  AUTHORS   Sweetman,D. and Munsterberg,A.
  TITLE     The vertebrate spalt genes in development and disease
  JOURNAL   Dev Biol 293 (2), 285-293 (2006)
   PUBMED   16545361
  REMARK    Review article
REFERENCE   7  (bases 1 to 4861)
  AUTHORS   Li,D., Tian,Y., Ma,Y. and Benjamin,T.
  TITLE     p150(Sal2) is a p53-independent regulator of p21(WAF1/CIP)
  JOURNAL   Mol Cell Biol 24 (9), 3885-3893 (2004)
   PUBMED   15082782
  REMARK    GeneRIF: Results suggest that p150(Sal2), acting in part as a
            p53-independent regulator of p21 and BAX, can function in some cell
            types as a regulator of cell growth and survival [p150(Sal2)]
REFERENCE   8  (bases 1 to 4861)
  AUTHORS   Nielsen,T.O., Hsu,F.D., O'Connell,J.X., Gilks,C.B., Sorensen,P.H.,
            Linn,S., West,R.B., Liu,C.L., Botstein,D., Brown,P.O. and van de
            Rijn,M.
  TITLE     Tissue microarray validation of epidermal growth factor receptor
            and SALL2 in synovial sarcoma with comparison to tumors of similar
            histology
  JOURNAL   Am J Pathol 163 (4), 1449-1456 (2003)
   PUBMED   14507652
  REMARK    GeneRIF: Epidermal growth factor receptor (a potential therapeutic
            target) and SALL2 stained most cases of synovial sarcoma; staining
            was significantly less common among other tested sarcomas.
REFERENCE   9  (bases 1 to 4861)
  AUTHORS   Boysen,C., Simon,M.I. and Hood,L.
  TITLE     Analysis of the 1.1-Mb human alpha/delta T-cell receptor locus with
            bacterial artificial chromosome clones
  JOURNAL   Genome Res 7 (4), 330-338 (1997)
   PUBMED   9110172
REFERENCE   10 (bases 1 to 4861)
  AUTHORS   Kohlhase,J., Schuh,R., Dowe,G., Kuhnlein,R.P., Jackle,H.,
            Schroeder,B., Schulz-Schaeffer,W., Kretzschmar,H.A., Kohler,A.,
            Muller,U., Raab-Vetter,M., Burkhardt,E., Engel,W. and Stick,R.
  TITLE     Isolation, characterization, and organ-specific expression of two
            novel human zinc finger genes related to the Drosophila gene spalt
  JOURNAL   Genomics 38 (3), 291-298 (1996)
   PUBMED   8975705
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161747.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a protein containing multiple zinc
            finger domains. The encoded protein functions in optical fissure
            closure during development of the eye in the embryo. Mutations in
            this gene are associated with ocular coloboma. [provided by RefSeq,
            Jul 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: DC307753.1, SRR3476690.1166253.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000537235.2/ ENSP00000438493.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-286               AL161747.5         142298-142583       c
            287-4861            AL161747.5         137317-141891       c
FEATURES             Location/Qualifiers
     source          1..4861
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..4861
                     /gene="SALL2"
                     /gene_synonym="COLB; HSAL2; p150(Sal2); Sal-2; ZNF795"
                     /note="spalt like transcription factor 2"
                     /db_xref="GeneID:6297"
                     /db_xref="HGNC:HGNC:10526"
                     /db_xref="MIM:602219"
     exon            1..286
                     /gene="SALL2"
                     /gene_synonym="COLB; HSAL2; p150(Sal2); Sal-2; ZNF795"
                     /inference="alignment:Splign:2.1.0"
     CDS             220..3237
                     /gene="SALL2"
                     /gene_synonym="COLB; HSAL2; p150(Sal2); Sal-2; ZNF795"
                     /note="isoform d is encoded by transcript variant 6;
                     sal-like protein 2; zinc finger protein SALL2; zinc finger
                     protein 795; zinc finger protein Spalt-2"
                     /codon_start=1
                     /product="sal-like protein 2 isoform d"
                     /protein_id="NP_001351493.1"
                     /db_xref="CCDS:CCDS91849.1"
                     /db_xref="GeneID:6297"
                     /db_xref="HGNC:HGNC:10526"
                     /db_xref="MIM:602219"
                     /translation="MAHESERSSRLGVPCGEPAELGGDASEEDHPQVCAKCCAQFTDP
                     TEFLAHQNACSTDPPVMVIIGGQENPNNSSASSEPRPEGHNNPQVMDTEHSNPPDSGS
                     SVPTDPTWGPERRGEESSGHFLVAATGTAAGGGGGLILASPKLGATPLPPESTPAPPP
                     PPPPPPPPGVGSGHLNIPLILEELRVLQQRQIHQMQMTEQICRQVLLLGSLGQTVGAP
                     ASPSELPGTGTASSTKPLLPLFSPIKPVQTSKTLASSSSSSSSSSGAETPKQAFFHLY
                     HPLGSQHPFSAGGVGRSHKPTPAPSPALPGSTDQLIASPHLAFPSTTGLLAAQCLGAA
                     RGLEATASPGLLKPKNGSGELSYGEVMGPLEKPGGRHKCRFCAKVFGSDSALQIHLRS
                     HTGERPYKCNVCGNRFTTRGNLKVHFHRHREKYPHVQMNPHPVPEHLDYVITSSGLPY
                     GMSVPPEKAEEEAATPGGGVERKPLVASTTALSATESLTLLSTSAGTATAPGLPAFNK
                     FVLMKAVEPKNKADENTPPGSEGSAISGVAESSTATRMQLSKLVTSLPSWALLTNHFK
                     STGSFPFPYVLEPLGASPSETSKLQQLVEKIDRQGAVAVTSAASGAPTTSAPAPSSSA
                     SSGPNQCVICLRVLSCPRALRLHYGQHGGERPFKCKVCGRAFSTRGNLRAHFVGHKAS
                     PAARAQNSCPICQKKFTNAVTLQQHVRMHLGGQIPNGGTALPEGGGAAQENGSEQSTV
                     SGARSFPQQQSQQPSPEEELSEEEEEEDEEEEEDVTDEDSLAGRGSESGGEKAISVRG
                     DSEEASGAEEEVGTVAAAATAGKEMDSNEKTTQQSSLPPPPPPDSLDQPQPMEQGSSG
                     VLGGKEEGGKPERSSSPASALTPEGEATSVTLVEELSLQEAMRKEPGESSSRKACEVC
                     GQAFPSQAALEEHQKTHPKEGPLFTCVFCRQGFLERATLKKHMLLAHHQVQPFAPHGP
                     QNIAALSLVPGCSPSITSTGLSPFPRKDDPTIP"
     exon            287..4861
                     /gene="SALL2"
                     /gene_synonym="COLB; HSAL2; p150(Sal2); Sal-2; ZNF795"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4841..4846
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SALL2"
                     /gene_synonym="COLB; HSAL2; p150(Sal2); Sal-2; ZNF795"
                     /note="hexamer: ATTAAA"
     polyA_site      4861
                     /gene="SALL2"
                     /gene_synonym="COLB; HSAL2; p150(Sal2); Sal-2; ZNF795"
                     /note="major polyA site"
ORIGIN      
        1 agatctcccc tctccccgct ttctcactcc agcttctccc cgcctcctcg ctcccctccc
       61 cctccgccgc tgctccctgc ccccgccgct gccgatctcc atctccgcag tctgggccgc
      121 tgggtgcaga ggctgccgca gacccagcgg ccatcgcctc cctcaatccc aatatccatt
      181 gtctcccacc ccacctggcc ctccacttcc cccacaacca tggcgcacga atccgagagg
      241 agctctcgtc tcggggtgcc ctgcggggag ccggcagagc tcggaggtga tgctagcgag
      301 gaggatcacc cccaagtctg tgccaagtgc tgcgcacaat tcactgaccc aactgaattc
      361 ctcgcccacc agaacgcatg ttctactgac cctcctgtaa tggtgataat tgggggccag
      421 gagaacccca acaactcttc ggcctcctct gaaccccggc ctgagggtca caataatcct
      481 caggtcatgg acacagagca tagcaacccc ccagattctg ggtcctccgt gcccacggat
      541 cccacctggg gcccagagag gagaggagag gagtcttcag ggcatttcct ggtcgctgcc
      601 acaggtacag cggctggggg aggcgggggc ctgatcttgg ccagtcccaa gctgggagca
      661 accccattac ctccagaatc gacccctgca ccccctcctc ctccaccacc ccctccgccc
      721 ccaggggtag gcagtggcca cttgaatatc cccctgatct tggaagagct acgggtgctg
      781 cagcagcggc agatccatca gatgcagatg actgagcaaa tctgcaggca ggtgctgttg
      841 cttggctcct taggccagac ggtgggtgcc cctgccagtc cctcagagct acctgggaca
      901 gggactgcct cttccaccaa gcccctacta cccctcttca gccccatcaa gcctgtccaa
      961 accagcaaga cactggcatc ttcctcctcc tcctcctctt cctcttcagg ggcagaaacg
     1021 cccaagcagg ccttcttcca cctttaccac ccactggggt cacagcatcc tttctctgct
     1081 ggaggggttg ggcgaagcca caaacccacc cctgcccctt ccccagcctt gccaggcagc
     1141 acagatcagc tgattgcctc gcctcatctg gcattcccaa gcaccacggg actactggca
     1201 gcacagtgtc ttggggcagc ccgaggcctt gaggccactg cctccccagg gctcctgaag
     1261 ccaaagaatg gaagtggtga gctgagctac ggagaagtga tgggtccctt ggagaagcct
     1321 ggtggaaggc acaaatgccg cttctgtgcc aaagtatttg gcagtgacag tgccctgcag
     1381 atccaccttc gttcccacac gggtgagagg ccctataagt gcaatgtctg tggaaaccgt
     1441 tttaccaccc gtggcaacct caaagtgcat ttccaccggc atcgtgagaa gtacccacat
     1501 gtgcagatga acccacaccc agtaccagag cacctagact atgtcattac cagcagtggc
     1561 ttgccttatg gtatgtccgt gccaccagag aaggccgagg aggaggcagc cactccaggt
     1621 ggaggggttg agcgcaagcc tctggtggcc tccacaacag cactcagtgc cacagagagc
     1681 ctgactctgc tctccaccag tgcaggcaca gccacggctc caggactccc tgctttcaat
     1741 aagtttgtgc tcatgaaagc agtggaaccc aagaataaag ctgatgaaaa caccccccca
     1801 gggagtgagg gctcagccat cagtggagtg gcagaaagta gcacggcaac tcgcatgcaa
     1861 ctaagtaagt tggtgacttc actaccaagc tgggcactgc ttaccaacca cttcaagtcc
     1921 actggcagct tccccttccc ctatgtgcta gagcccttgg gggcctcacc ctctgagaca
     1981 tcaaagctgc agcaactggt agaaaagatt gaccggcaag gagctgtggc ggtgacctca
     2041 gctgcctcag gagcccccac cacctctgcc cctgcacctt catcctcagc ctcttctgga
     2101 cctaaccagt gtgtcatctg tctccgagtg cttagctgtc ctcgggccct acgccttcat
     2161 tatggccaac atggaggtga gaggcccttc aaatgcaaag tgtgtggcag agccttctcc
     2221 accaggggta atctgcgtgc acatttcgtg ggccacaagg ccagtccagc tgcccgggca
     2281 cagaattcct gccccatctg ccagaagaag ttcaccaatg ctgtcactct gcagcagcat
     2341 gtccggatgc acctgggggg ccagatcccc aacggtggta ctgcactccc tgaaggtgga
     2401 ggagctgctc aggagaatgg ctccgagcaa tctacagtct ccggggcacg gagtttcccc
     2461 cagcagcagt cccagcagcc atcaccggaa gaggagttgt ctgaggagga ggaagaggag
     2521 gatgaggaag aagaggaaga tgtgactgat gaagattccc tggcagggag aggctcagag
     2581 agtggaggtg agaaggcaat atcagtgaga ggtgattcag aagaggcatc tggggcagag
     2641 gaggaggtgg ggacagtggc ggcagcagcc acagctggga aggagatgga cagtaatgag
     2701 aaaactactc aacagtcttc tttgccacca ccaccaccac ctgacagcct ggatcagcct
     2761 cagccaatgg agcagggaag cagtggtgtt ttaggaggca aggaagaggg gggcaaaccg
     2821 gagagaagct caagtccggc atcagcactc accccagaag gggaagccac cagcgtgacc
     2881 ttggtagagg agctgagcct gcaggaggca atgagaaagg agccaggaga gagcagcagc
     2941 agaaaggcct gcgaagtgtg tggccaggcc tttccctccc aggcagctct ggaggagcat
     3001 cagaagaccc accccaagga ggggccgctc ttcacttgtg ttttctgcag gcagggcttt
     3061 cttgagcggg ctaccctcaa gaagcatatg ctcctggcac accaccaggt acagcccttt
     3121 gccccccatg gccctcagaa tattgctgct ctttctctag tccctggctg ttcgccttcc
     3181 atcacctcca cagggctctc cccctttccc cgaaaagatg accccacgat cccatgagcc
     3241 tgtttttctg tacctgctgc tctttgtccc acagagcaga aacagcttca caaaaggacc
     3301 tcccagagtt atgagccctg attttgtctt tttctctaag ttcttaacat gttatgtccc
     3361 tagtggcttt tctgtagtcc ctgagcttgg aaattactgt gcttacaagg ggatggcccc
     3421 ctaaggaatt tttcttccct cctcattctt tgtacctgag gaacatagat tctctgcagc
     3481 tttctcaagg ggaaccctct ccagcttccc tggtgtgacc cttcttcccc ctcctctctc
     3541 ctctcccttt ccctttggta ggtgcacctg agcacctaca tttggcattg cagcctagcc
     3601 aaaaagggct ggcagctgtc tctggagggc ccagtgccac tcctctgggg tgacctttct
     3661 gctcagctgg tgggtatggg tcccctatct ttctagaacc agtatgtggc attcctgtca
     3721 aatggcctgc ccatgaagcc ctggaattcc agctccacct ccactaccac tccaagcctg
     3781 gccccaccag tgctgtttgg cctaggaact gtggctggga aggtgcctcc aacaatggga
     3841 tccagggaag ccaaggagaa gacagccccc ctcctatttc agcctcctgc acccaaggca
     3901 gtgcctgaga agcccatcat agacaagaag tagcaaactg tacattcctt cttcctcccc
     3961 ctgctccaga aggtgccggt actgaagatg ctccagtaat tggtgaccca accctaggaa
     4021 gtagggagaa atgaaggaag ggcataggaa aattttccca gtaaatcccc tgatggtcac
     4081 attaaggtaa aggttttggc tggtcagtgt gccaagacct ctccagcttc tcattcatga
     4141 tgacctctca aagttgggaa acaagctgat ttcttgccaa gaggtctccc aggagatatt
     4201 tgggaaatgt gaagttcgta tctttaagga gcatttttgg tcagcatggt tgatgaacta
     4261 atgatgagag agttaaggaa tgttgctaga acatagggct tgctggtacc tatgtgacta
     4321 agaaagggac atgatgtaag ggaaaaggcc tcaaattctt gtgaatgtct ggacattctc
     4381 gttaatattc ttttgggcta atagtgacat agtgtgcaga ggtgtaccag ggatcatggg
     4441 ggatttccta gcactagtat gcttctagtt ttagataact ccctccttta ttccctggcc
     4501 ccttgtattt tccttatctt cctctttcaa gacccctacc cattttgcct atccgtaggc
     4561 tggggcttgt gtctttgtca ttgtctggtt cttaagagtc ccagactttg ggagaccagc
     4621 tccaggtggc gtcctccctg cctctccgtc ttgtaatgag ttgtagtatt tactcttaac
     4681 ataggatcat ttggaacagg agttctgagg aggagagagt gagggttttg ctattgactg
     4741 acttgaacga tggcttctcc tcaagctgta ggctccagag cttcctaacc tagtaaaatg
     4801 tcaagaacag acgggagata ttagtgtctt tccctctatc attaaaggtg ttttaaccaa
     4861 a
//
