Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

Table 2.

Putative Genes Identified within the SMCR

Group Gene name Accession number Exons mRNA (bp) ORF (aa) Domains Expression profiles Reference
I. Genes NT5M NM_020201 5 1617 228 NA N/1.4, heart, brain, and muscle Rampazzo et al. 2000
RPL13 NM_000977 1 1110 211 NA RT/ubiquitous
FLJ10193 NM_018019 2 2222 146 NA N/2.4, ubiquitous
RASD1 NM_016084 2 1740 281 RAS, etc. N/5.0, all, predominantly in heart Tu et al. 1999
PEMT NM_007169 9 1007 199 NA N/1.0, liver Shields et al. 2001
RA11 NM_030665 7 5667 1862 NA N/8.0, all, 1.5-placenta, 10.0-weak Seranski et al. 2001
SREBF1 NM_004176 22 4154 1147 HLH N/4.0, all, predominantly in liver, adrenal gland Yokoyama et al. 1993
TOM1L2 AF467441 16 1903 475 VHS, GAT N/6.0, 2.4, all, predominantly in heart, sk. mus.; RT/fetus (+)
DKFZp586M1120 AL136926 11 5822 225 LRR N/1.8, predominantly in kidney; RT/fetus (+)
ATP12 AF052185 8 1320 289 NA N/1.4, all, weak in brain, placenta, lung; RT/fetus (+)
MGC3048 NM_024052 6 816 217 NA N/4.4, ubiquitous
DRG2 NM_001388 13 1880 365 GTP-OBG, etc. N/1.4, 2.0, all, high level in sk. mus., heart, and kidney Li et al. 2000
MYO15A NM_016239 66 11876 3530 MyTH4, etc. N/12.0, pituitary gland Liang et al. 1999
FLJ20308 AK000315 4 2371 378 NA N/3.5, 4.0, ubiquitous; RT/fetus (+)
LLGL1 D50550 22 3806 1032 NA N/4.4, all, more abundantly in brain and testis Koyama et al. 1996
FL11 NM_002018 30 14131 1269 GEL, LRR N/4.4, predominantly in sk. mus. Campbell et al. 1997
SMCR7 AF467443 4 2455 454 NA N/2.4, 3.4, all, predominantly in heart, sk. mus., RT/fetus (+)
TOP3A U43431 19 3755 1001 TOP N/7.2, 6, 4, ubiquitous Fritz et al. 1997
SMCR8 AF467440 2 3206 787 LBP/BPI/CETP N/2.8, 3.0, 6.5, all; RT/fetus (+)
SHMT1 XM_039898 13 1867 483 SHMT N/2.3, 2.1, predominantly in liver, kidney Girgis et al. 1998
II. Predicted genes SMCR9 NA 3 543 180 PDZ RT/adult (+), fetus (+)
FLJ23022 NM_025051 1 2145 147 NA RT/adult (+), fetus (+)
SMCR2 AI821758 4 2255 NA NA RT/adult brain, leukemia, fetus (+)
SMCR3 AA609047 1 3235 NA NA RT/adult (+), fetus (+)
SMCR4 BG992883 3 502 NA NA RT/adult (+), fetus (+)
SMCR5 AF467442 1 2843 140 NA RT/ubiquitous
SMCR6 BF511382 3 588 NA NA RT/ubiquitous
DKFZp586E1520 AL133641 1 1328 136 NA RT/ubiquitous
FLJ21501 AK025154 1 3203 NA NA RT/ubiquitous
FLJ13773 AK023835 1 4512 NA NA RT/adult (+), fetus (+)
III. Pseudogenes EVPL
RPL7A
RPL21
  • References for gene expression profile. Alternative splicing was observed for genes PEMT, RAII, SREBF1, ATP12, SMCR7, DRG2, and SHMT1. The gene description for them is about the major transcripts. NA, not available. For the gene expression profile, N means data from Northern blotting, and the numbers after the N are the sizes of transcripts in kilobases; RT means data from RT-PCR analyses.

This Article

  1. Genome Res. 12: 713-728

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