Gene

SNPs: Human  scgf

   Total 35 SNPs ofscgf  gene are deposited in  Entrez SNP at NCBIand  dbProP; 9 SNPs in the 5' flanking region,  2 SNPs with
1 synonymous and 1 nonsynonymous aa change in the 2nd exon, 1 SNP with nonsynonymous aa change  in the 3rd exon, 15 SNPs
with 8 synonymous and 7 nonsynonymous aa changes in the 4th exon and 8 SNPs in the 3'-UTR. Locus and nucleotide change of
each SNP is shown below, where accession number follows [original/replaced nucleotide] with/without [A#A for synonymous aa
change or A#B for nonsynonymous aa change] in the coding region.  
  Frequent SNPs in the 4th exon and 3'-UTR actually do not misconduct SCGF molecule, implicating that the relevant area is
less associated with its biologic activity.
  There have been some reports concerning correlation of scgf SNPs with disease;
(1) no correlation of scgf  SNPs with cytogenetic response in chronic myeloid leukemia patients treated with imatinib (18),
(2) significant correlation of schizophrenia with scgf  SNP [a/g]rs722036 in the 3'-UTR (shown in the genome sequence), which
position further 1,566 nucleotides downstream from [a/c]ASN512680_6 (Pat4).
(3) SNP ([c/t]rs13866) of scgf  gene is associated with susceptibility to vitiligo vulgaris (203). Vitiligo vulgaris is a depigmentary
disease caused by extinction of melanocytes. Keratinocytes play a homeostatic role for epidermal-melanin unit by elaborating KL,
bFGF, endothein-1, HGF and SCGF. Gene abnormality in the keratinocyte-derived growth factors has been one of the
pathogenetic candidates of vitiligo vulgaris. The keratinocyte-derived growth factor genes from 51 cases of vitiligo vulgaris without
autoimmune disease were compared with those from 118 normal controls. KL SNP (rs11104947: G/A) and scgf SNP ([c/t]rs13866)
were associated with a 1.95- and a 2.14-fold higher susceptibility to vitiligo vulgaris, respectively, and the combined two gene SNPs
further showed a 7.92-fold higher risk of developing the disease. Scgf -independently or KL-dependently regulates a keratinocyte-melanocyte proliferative interaction, and scgf-dysregulation is associated with susceptibility to vitiligo vulgaris, for (1) scgf gene is expressed in neonatal or immature keratinocytes, (2) scgf SNP ([c/t]rs13866) is located at 3'UTR that is the target locus for hsa-miR-663, important for translation of scgf mRNA, and (3) scgf chromosomal locus 19q13.3 has been reportedly associated with vitiligo vulgaris. Association of vitiligo with scgf SNP [c/t]rs7246355 is in conflict; positive (203) and negative (303).
(4) Suppression of SCGF production by malarial pigment hemozoin-phagocytized monocytes is one of the causes underlying childhood severe malarial anemia (SMA<Hb 6.0g/dl) (175). To further clarify a functional role of SCGF in SMA, it was investigated whether scgf SNP [c/t]rs7246355 was associated with the development of SMA in children with P. falciparum malaria. Scgf  
genotyping indicated a significant prevalence of TT allele in non-SMA (6.0g/dl≤Hb<11.0g/dl) and CC allele in SMA. SCGF levels in the plasma and cultural supernatants of PB-MNCs from P. falciparum-infected children with TT allele were higher than those with CC allele. In addition, TT allele groups had high reticulocyte production index relative to CC allele groups. Consequently homozygous T allele in the scgf  promoter (SNP [c/t]rs7246355) at the position of 539 nucleotides upstream  from the first exon exhibits resistance to the development  of childhood severe malarial anemia (221).
(5) A synonymous SNP [c/t] in the 2nd exon of scgf gene is found in the tumor tissue from a patient with Her2⁺⁺, ER^-, PR^-ductal breast carcinoma (377).
(6) Bioinformatics with ingenuity pathway analysis disclose that scgf is one of the Erk1/2-linked gene SNPs commonly shared in alcohol, smoking and opioid addiction (503).
(7) F5 (coagulation factor V) rs4656185, STAB2 (stabilin 2) rs187503377 and scgf rs116924815 are associated with higher
circulating SCGF levels (542).



                                                   Scgf Genome
   54001  acaaggcctt tccccacata cgcattattt cttgaggtct gtagctcctg gtgaggggcc
  54061  ccaggttccc gatgggcacc tgagaggccc aggctctgag gcagggagca gtctgcccaa
  54121  ggtcacagtg ccctcgatgt accaggattt cttggaaaac ggaaggctgg aggcactgat
  54181  ttccaaggcc cctcctgggg ctcccggcag ccgagggcag atgccctgct cttggagcca
  54241  gaaaccttgg ctagctgccg ccacactggt gacctccagc aggctatgct gtttcagagc
  54301  ctcggtctcc tcctttgaag agcaggccca gtgatccttg gctggtgtgc cccatgcttg
  54361  ttggcaccac cagccaggcc tgggcgggaa aagccctgca tgactcatgg gcctgacata
  54421  gaggggcatg gcatggcatt gttcttcctt gcctccaagc ctctctccca ctgccctcac
  54481  cacctctacc taccctgcca ccaccaccct gggaacttgg gtgccagcaa accaaagagg
  54541  tgaagcttcc aggcctttga ccccaccagg aacggctacc ctctcgccca ctcaacaggt
  54601  tgattgaaca cctactatgt gctaggtagg ccttgtgcta ggagatgcat cagtgcataa
  54661  aaatccctgc tttcattggc agggaacaga cataaacaaa caagatcatg ccagtcttga
                                                                                                     [a/g]rs11882862
  54721  ttataccaaa aagatgaaat ggggcatttt aataaagtaa cttgcggaat agataaggtg
  54781  gttggggaag acctcctgga gctgagacct cgatgatgag aaggagctgg ggaaagaggc
  54841  ttctagaagg aggaaagggc tagtgcaaat gctctgaggt tgtaatcagc ttagtatttg
                                                                                                 [a/g]rs890863
  54901  gggatgagcc aagaggccag ggaaggtgga ggctgggggt gggtgaaggg aatgggggtg
  54961  atgaggctgc agaggtgcaa agggttcttc cttcccagcc cccagcatgg taggctgcgc
  55021  tgaggactga ggcccgggct tggcttccct cctgcttatg atgggaaggt gggggagcag
  55081  gggagtgggg agtgatgtga tctgatttat ggtttggaag gattgctttg gctgcggcaa
  55141  gcagccggga ttggaggggc tcaggaggaa ggagggggag ggcgagactg cagtggtcca
  55201  ggctgaaatg aggtggcttg ctgaatgctc agagctcctt gagcacacaa cctagcgtct
                                                         [c/g]rs17426175
  55261  gtcgatttca cctcctggag aaaccttcccxtgactgctcc gccagactcc tcaccctctc
                                                     [-/c]rs35674996
  55321  ccatctccag ccccctcatc cccggagcta tctggctgct ggtctgcaag cagctggagt
  55381  ccccagcatc acccagccca cagcctggcc tgcaggaggc ttctagtaaa gtggccaatt
                                                                               [c/g]rs7246075
  55441  aatccccgag ccccgtcttc cagggtcatg cacacagtcaxcacgcgtgct cttcacatgt
  55501  gtcaccctgc ccccacacac actcacttgg atctccagac aagggcttgg agggtaggat
  55561  gggcaatcta gggggcagga ggggccctgg agtctcctcc attgagtgtg caggcgatgg
                                                               [c/t]rs7246355
  55621  tggccacagg gtaataacaa cctcagcgag accctgaggt ctgcccctcc ttaggaatgg
                                                     [c/t]rs7246389
  55681  ccaggcaggg aagaagggag cagtgctcgg tcccagcatc ccaccactgc cgagatggtt
  55741  ctgagcgggt tcctgggctg aggccggggc ctgtgttttc caagattcct tggagagcca
  55801  gctccatcct cttcctgatt atctgatctt tgggctacag cagaaggaaa gagcagggcg
  55861  gaagcgagct ctggaaagtg gaaagaggag ggtgtgcgag gagacccaag gcgggatcta
  55921  ggctttggaa cgttggaggt ttccggccac agaggcaggg cctccgggga gccaagaggg
                                   [c/g]rs11666008
  55981  gcggggagag acacacacag agaagcagag gagaccaacg gaccggacag agacgaggag
  56041  aggaacagga agagagaagc tgggagaatc gggaacctgg gggctagtga cctgcacaca
                 [g/t]ASN512680_115
  56101  gggcaggggc actcggcagt tcccagaggc cacccctccc accccagaca tccagacatc
  56161  tggaactttg ggtgccaaga gtccagcttaxatgcaggcag cctggctttt gggggctttg 1st exon
  56221  gtggtccccc agctcttggg ctttggccat ggggctcggg gagcagagag ggagtgggag
  56281  ggaggctggg gaggtgccca ggaggaggag cgggagaggg aggccctgat gctgaaggtg
  56341  agctctggag tgtcagggag ctatgggtgg tgaactgtgg gtctgggagg gggtattgca
  56401  aggttaggga aatggacaat gaggagcgat tgggatagtc tcagaggagt gggagggtga
  56461  tgggctcaga gacaggactc aggcagcaga gaatgagtta tgagttggaa aggggtgaat
  56521  ggggcatctt ggtggcaggc tggggctcac cacccctccc ctgccccagc atctgcagga 2nd exon
  56581  agccctagga ctgcctgctg ggagggggga tgagaatcct gccggaactg ttgagggaaa
  56641  agaggactgg gagatggagg aggaccaggg ggaggaagag gaggaggaag caacgccaac
                                     [c/t][S99S]ASN512680_111   [c/g][P104R]rs2303688     [c/t](377)
  56701  cccatcctcc ggccccagcc cctctcccac ccctgaggac atcgtcactt acatccgtga
  56761  gtaaccagaa gccctcaccc ccaaactcct aggccgccgc ggtcactttc gcaaaaatga
  56821  agggtcggtt cactgccaag tggcctttca gttgtccatt gcccagccca gagcccccac
  56881  acccctagga gccccaggtc cacggccatg cctcctaaag gcctgggcca ctcgacccta
  56941  ccttccagga gtccggggtg ccccccccac cgccaccccg ccctcaggag ccctagatcc
  57001  cagttctcca ggtcctcagg ccccccgctg catctccagg ctccccctcc agcatgatcc
  57061  ctgtctgtcc gcagtgggcc gcctggccgg cctggacgca ggcctgcacc agctgcacgt 3rd exon
   [c/g][R128G]ASN512680_106
  57121  ccgtctgcac gcgttggaca cccgcgtggt cgagctgacc caggggctgc ggcagctgcg
  57181  gaacgcggca ggcgacaccc gcgatgccgt gcaagccctg caggaggcgc agggtcgcgc
  57241  cgagcgcgag cacggccgct tggagggtga gtccgcggcg cgcggggtgg aaaaaaatga
  57301  gactatctgg gccaggaatg ggactggttg agaaggtgac cctaggtgtc cggggcggga
  57361  gagttcggga gagctgctgt gtgctagcgg acggggttag agagctggga ggctgaatgc
  57421  agggagcggg tgggcactcc agacccgcgc ggacccgact ggggcagcac cacgccccct
  57481  acagtccagc tcccaccgcc tggccccgcc cctggcggac cagactctcc acctcctggc
  57541  tcccgcggtt ctgaccacgc ctcctcccag ccctccccat gagttcctgg ccccgcctcc
  57601  ctccaccccc ggatgttttg tcctcgcccc cttccagact ctgaatgcat gaccccgcct
  57661  ccttctctac ccggccccgc ccacaggctg cctgaagggg ctgcgcctgg gccacaagtg 4th exon
   [c/t][C187C]ASN512680_101
  57721  cttcctgctc tcgcgcgact tcgaagctca ggcggcggcg caggcgcggt gcacggcgcg
         [g/a][G209E]ASN512680_96
  57781  gggcgggagc ctggcgcagc cggcagaccg ccagcagatg gaggcgctca ctcggtacct
                   [c/a][P233P]ASN512680_91[c/g][N235K]ASN512680_86
  57841  gcgcgcggcg ctcgctccct acaactggcc cgtgtggctg ggcgtgcacg atcggcgcgc
   [g/a][G249D]ASN512680_81[c/t][L252L]ASN512680_76[c/t][F261F]ASN512680_71[c/t][A263A]ASN512680_66[c/g][H265D]ASN512680_61
  57901  cgagggcctc tacctcttcg aaaacggcca gcgcgtgtcc ttcttcgcct ggcatcgctc
                                     [c/t][S279L]ASN512680_56[c/a][P280T]ASN512680_51[c/t][L283F]ASN512680_46
  57961  accccgcccc gagctcggcg cccagcccag cgcctcgccg catccgctca gcccggacca
                               [g/a][E294E]rs11084024,ASN512680_41
  58021  gcccaacggt ggcacgctcg agaactgcgt ggcgcaggcc tctgacgacg gctcctggtg
                                     [c/t][L315L]ASN512680_36[c/t][V318V]ASN512680_31
  58081  ggaccacgac tgccagcggc gtctctacta cgtctgcgag ttccccttct agcggggccg
                         [c/t]rs13866,ASN512680_27                             [c/t]ASN512680_24
  58141  gtaccccgcc tccctgccca tcccaccacc cggcctttccxctgcgccgtg cccaccctcc
           [t/g]rs1053020,ASN512680_21[c/t]rs1053022,ASN512680_18           [c/g]ASN512680_15                     [c/t]ASN512680_12
  58201  tccggaatctxcccttcccttxcctggccacg aatggcagcg tcctccccga cccccagtct
                   [c/t]ASN512680_9
  58261  gggcgcttct gggagggctc ttgcggtgcc ggcactcctc cttgttagtg tctttccttg
                         [a/c]ASN512680_6
  58321  aaggggcggg caccaggcta ggtccggtgc caataaatcc ttgtggaatc tgacttgagg
  58381  ggcagtgaag gcagtcttgg actttatctc ctgcagggga agccgggaag ggccagaccc
  58441  tggtctttgg gcgcgtgtcc tggcctttgg atgcctgttc tgctttttac agatgtcatt
  58501  tgagccccag atggagtgat ggagaaacac aggtgcatat gtacacacgg tcatctgttc
  58561  tgtgcacaga tggccggagt acacgcgtac aaacgctgta gacaccttca cctccatcgt
  58621  gccctctctc tcggcctttg ggacccaggg cctgccagtt gtcccaggcc ttggtcttgg
  58681  tcctggtcaa agagatttgg gaaacgtgaa ggggctaaag gctctgacaa gtccggcagg
  58741  aaagagcccg tttaatttgt ttaagtggcg tgtccaattt gtttccccag atgatatggt
  58801  ttcatggact tgttgggatg atatattgag acatggactt aaggactcac ccaaccctga
  58861  agcttagact tcctcccaat tttccctcct ctgcttcctg ccagtgaggc caggagccag
  58921  tcccttcccc tctgtgagcc tcgggttttt catctgaacg tgggcacaat ccctcctact
  58981  ttgtgcggct cttgggatgt tcaggtgaga ccaggacagt gtgcatttgg tggtggctga
  59041  acttgagcca cacactacct tccgtcctca cctttttttt tccttttttg agacacggtc
  59101  ttgctctttc gcccaggctg gagtgcagtg gtacaatcat ggcttactgc agcctcaatc
  59161  ttctgggttc aagcagtcct cccaccttag ccccccaagt agctgggact acaggcacgc
  59221  cccaccacac ctggctaatt tttgtatttt tttatagagg ttggttttcg ccacgttgct
  59281  caggctggtc ttgaactcct gagctcaagc aatctgccct cctgggcctc ccaaagggct
  59341  gggaatacag gcatgagcca cagtgcctgg ctctccctca ccatttttca tacctttact
  59401  ccctgggggc agtgaagaca cccaggagtc cgccagccgg ggcctcagca tagtggccag
  59461  ctctgtctag aggagaggct ctttggaaat caccctagta cctcccccaa ggttggcatc
  59521  atgggcgtga ccctgacatc agggagccta ggaatgggga tgtgaccctg tctgtcctta
  59581  ccactctgcc ccttcccttc cttcagccat tgcaccactg cctaaagggt gaccattgga
  59641  tccacacatg ggaggagcaa gccatcactg tcagcttgga tagaggggag atcacccacc
  59701  cttctccctt caggagacat ttctcagccc cacatcccca gaggaataca gaataggaga
  59761  gtgggggtgt ggcctggagt cagccttcca tcagaaattc ttctcatgct gagcttcagt
  59821  ttccccgggg agggataggc agccctagat cttatagcca accagaggtc agattaggca
                                     [a/g]rs722036
  59881  gacaatgatg agtatctatt atttcccaga ggggtctctg ccctggcaga gcttccattc
  59941  tggaaagtat ttgggcatgg tacaccatgg ctacccgccc agattctaga gccagatggc


SNPs: Mouse  scgf

  Mouse interstrain SNPs are listed at Mouse Genome Informatics (MGI).