STOML2 (stomatin like 2) - Rat Genome Database

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Gene: STOML2 (stomatin like 2) Homo sapiens
Analyze
Symbol: STOML2
Name: stomatin like 2
RGD ID: 1317972
HGNC Page HGNC
Description: Enables GTPase binding activity and cardiolipin binding activity. Involved in several processes, including inorganic cation transmembrane transport; positive regulation of cardiolipin metabolic process; and positive regulation of mitochondrial DNA replication. Located in membrane raft; mitochondrial inner membrane; and mitochondrial intermembrane space. Is extrinsic component of plasma membrane. Colocalizes with several cellular components, including COP9 signalosome; T cell receptor complex; and immunological synapse.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: EPB72-like 2; EPB72-like protein 2; HSPC108; paraprotein target 7; paratarg-7; SLP-2; stomatin (EPB72)-like 2; stomatin-like 2; stomatin-like protein 2; stomatin-like protein 2, mitochondrial
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl935,099,776 - 35,103,195 (-)EnsemblGRCh38hg38GRCh38
GRCh38935,099,776 - 35,103,195 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37935,099,773 - 35,103,192 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,089,888 - 35,093,154 (-)NCBINCBI36hg18NCBI36
Build 34935,089,892 - 35,093,154NCBI
Celera935,031,870 - 35,035,129 (-)NCBI
Cytogenetic Map9p13.3NCBI
HuRef935,055,364 - 35,058,623 (-)NCBIHuRef
CHM1_1935,099,754 - 35,103,015 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8125298   PMID:10713127   PMID:11042152   PMID:11435687   PMID:12477932   PMID:14702039   PMID:15164053   PMID:15489334   PMID:15592455   PMID:16196087   PMID:16236267   PMID:16533792  
PMID:16671055   PMID:17121834   PMID:17342323   PMID:17676665   PMID:17709317   PMID:18022941   PMID:18267007   PMID:18641330   PMID:18850735   PMID:19322201   PMID:19640993   PMID:19767238  
PMID:19839737   PMID:19944461   PMID:20186120   PMID:20462248   PMID:20877624   PMID:21139048   PMID:21209152   PMID:21220746   PMID:21501885   PMID:21746876   PMID:21832049   PMID:21890473  
PMID:21906983   PMID:22081131   PMID:22158085   PMID:22190034   PMID:22268729   PMID:22586326   PMID:22623988   PMID:22939629   PMID:22990118   PMID:23000965   PMID:23028053   PMID:23371255  
PMID:23443559   PMID:23663784   PMID:23667687   PMID:23864651   PMID:23874603   PMID:23918306   PMID:24190591   PMID:24244333   PMID:24258357   PMID:24337748   PMID:24457600   PMID:24711643  
PMID:24816145   PMID:24981860   PMID:24999758   PMID:25437307   PMID:25659891   PMID:25695396   PMID:25921289   PMID:25973071   PMID:26186194   PMID:26344197   PMID:26487491   PMID:26496610  
PMID:26618866   PMID:26750533   PMID:26932604   PMID:26949251   PMID:26972000   PMID:27025967   PMID:27173435   PMID:27342126   PMID:27432908   PMID:27499296   PMID:27684187   PMID:27737933  
PMID:27880917   PMID:27986413   PMID:28276505   PMID:28302793   PMID:28379402   PMID:28443643   PMID:28514442   PMID:29128334   PMID:29229926   PMID:29357390   PMID:29364474   PMID:29467282  
PMID:29507755   PMID:29509190   PMID:29509794   PMID:29516570   PMID:29556045   PMID:29568061   PMID:29951933   PMID:29955894   PMID:30009671   PMID:30097533   PMID:30359340   PMID:30389319  
PMID:30463901   PMID:30555578   PMID:30575818   PMID:30585266   PMID:30619736   PMID:30833792   PMID:30888245   PMID:30948266   PMID:31091453   PMID:31180492   PMID:31536960   PMID:31586073  
PMID:31995728   PMID:32129710   PMID:32141532   PMID:32176739   PMID:32203420   PMID:32235678   PMID:32296183   PMID:32513696   PMID:32683582   PMID:32807901   PMID:32811647   PMID:32814053  
PMID:32814233   PMID:32838362   PMID:32877691   PMID:32913203   PMID:32929329   PMID:32994395   PMID:33022573   PMID:33306668   PMID:33412331   PMID:33446239   PMID:33567341   PMID:33845483  
PMID:33846782   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34088631   PMID:34709727  


Genomics

Comparative Map Data
STOML2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl935,099,776 - 35,103,195 (-)EnsemblGRCh38hg38GRCh38
GRCh38935,099,776 - 35,103,195 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37935,099,773 - 35,103,192 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,089,888 - 35,093,154 (-)NCBINCBI36hg18NCBI36
Build 34935,089,892 - 35,093,154NCBI
Celera935,031,870 - 35,035,129 (-)NCBI
Cytogenetic Map9p13.3NCBI
HuRef935,055,364 - 35,058,623 (-)NCBIHuRef
CHM1_1935,099,754 - 35,103,015 (-)NCBICHM1_1
Stoml2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39443,027,690 - 43,031,976 (-)NCBIGRCm39mm39
GRCm39 Ensembl443,027,690 - 43,031,710 (-)Ensembl
GRCm38443,027,690 - 43,031,976 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl443,027,690 - 43,031,710 (-)EnsemblGRCm38mm10GRCm38
MGSCv37443,040,562 - 43,044,256 (-)NCBIGRCm37mm9NCBIm37
MGSCv36443,048,790 - 43,052,484 (-)NCBImm8
Celera443,057,751 - 43,061,444 (-)NCBICelera
Cytogenetic Map4A5NCBI
Stoml2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2557,256,227 - 57,259,824 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl557,256,220 - 57,259,920 (-)Ensembl
Rnor_6.0558,472,561 - 58,476,158 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl558,472,550 - 58,476,251 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0562,998,097 - 63,001,694 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4559,518,467 - 59,522,064 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1559,518,582 - 59,522,264 (-)NCBI
Celera555,844,984 - 55,848,581 (-)NCBICelera
Cytogenetic Map5q22NCBI
Stoml2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554721,079,578 - 1,082,486 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554721,079,261 - 1,082,632 (+)NCBIChiLan1.0ChiLan1.0
STOML2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1935,755,790 - 35,759,091 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl935,755,790 - 35,759,091 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0934,950,387 - 34,953,707 (-)NCBIMhudiblu_PPA_v0panPan3
STOML2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11151,675,963 - 51,679,313 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1151,675,963 - 51,679,199 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1150,244,774 - 50,248,124 (-)NCBI
ROS_Cfam_1.01152,741,661 - 52,745,011 (-)NCBI
ROS_Cfam_1.0 Ensembl1152,741,665 - 52,744,982 (-)Ensembl
UMICH_Zoey_3.11151,285,489 - 51,288,839 (-)NCBI
UNSW_CanFamBas_1.01151,270,641 - 51,273,991 (-)NCBI
UU_Cfam_GSD_1.01151,972,516 - 51,975,866 (-)NCBI
Stoml2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947166,581,569 - 166,584,841 (-)NCBI
SpeTri2.0NW_0049365243,129,149 - 3,132,405 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STOML2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1235,890,679 - 235,894,625 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11235,891,479 - 235,894,944 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21263,416,861 - 263,420,324 (-)NCBISscrofa10.2Sscrofa10.2susScr3
STOML2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11245,513,578 - 45,516,876 (+)NCBIChlSab1.1chlSab2
ChlSab1.11245,513,578 - 45,516,876 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1245,513,307 - 45,517,110 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603842,628,934 - 42,632,249 (+)NCBIVero_WHO_p1.0
Stoml2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624915294,781 - 298,312 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH41785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,099,966 - 35,100,097UniSTSGRCh37
Build 36935,089,966 - 35,090,097RGDNCBI36
Celera935,031,943 - 35,032,074RGD
Cytogenetic Map9p13.1UniSTS
HuRef935,055,437 - 35,055,568UniSTS
GeneMap99-GB4 RH Map9138.96UniSTS
NCBI RH Map9455.8UniSTS
RH78365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,104,254 - 35,104,373UniSTSGRCh37
GRCh373113,949,286 - 113,949,405UniSTSGRCh37
Build 363115,431,976 - 115,432,095RGDNCBI36
Celera935,036,229 - 35,036,348UniSTS
Celera3112,357,289 - 112,357,408RGD
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9p13.3UniSTS
HuRef935,059,723 - 35,059,842UniSTS
HuRef3111,322,932 - 111,323,051UniSTS
GeneMap99-GB4 RH Map9137.71UniSTS
NCBI RH Map9447.9UniSTS
G20553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373113,949,208 - 113,949,367UniSTSGRCh37
GRCh37935,104,166 - 35,104,335UniSTSGRCh37
Build 363115,431,898 - 115,432,057RGDNCBI36
Celera3112,357,211 - 112,357,370RGD
Celera935,036,141 - 35,036,310UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9p13.1UniSTS
HuRef3111,322,854 - 111,323,013UniSTS
HuRef935,059,635 - 35,059,804UniSTS
A005W26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,104,166 - 35,104,335UniSTSGRCh37
GRCh373113,949,208 - 113,949,367UniSTSGRCh37
Build 363115,431,898 - 115,432,057RGDNCBI36
Celera935,036,141 - 35,036,310UniSTS
Celera3112,357,211 - 112,357,370RGD
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9p13.3UniSTS
HuRef935,059,635 - 35,059,804UniSTS
HuRef3111,322,854 - 111,323,013UniSTS
GeneMap99-GB4 RH Map9153.95UniSTS
A002P16  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,099,974 - 35,100,125UniSTSGRCh37
Build 36935,089,974 - 35,090,125RGDNCBI36
Celera935,031,951 - 35,032,102RGD
Cytogenetic Map9p13.1UniSTS
HuRef935,055,445 - 35,055,596UniSTS
GeneMap99-GB4 RH Map9156.51UniSTS
NCBI RH Map9460.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1135
Count of miRNA genes:598
Interacting mature miRNAs:668
Transcripts:ENST00000356493, ENST00000452248, ENST00000487490, ENST00000488050
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 19 2
Medium 2438 2888 1725 623 1891 464 4357 2154 3666 418 1441 1613 173 1 1204 2788 6 2
Low 103 1 1 60 1 43 68 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001287031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA657517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF190167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF282596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW273545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ935988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU528995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX400542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ815083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY039403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY367065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000356493   ⟹   ENSP00000348886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,099,778 - 35,103,131 (-)Ensembl
RefSeq Acc Id: ENST00000452248   ⟹   ENSP00000395743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,099,776 - 35,103,195 (-)Ensembl
RefSeq Acc Id: ENST00000487490
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,101,781 - 35,102,364 (-)Ensembl
RefSeq Acc Id: ENST00000488050   ⟹   ENSP00000434531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,099,896 - 35,101,493 (-)Ensembl
RefSeq Acc Id: ENST00000619795   ⟹   ENSP00000481672
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,099,776 - 35,103,195 (-)Ensembl
RefSeq Acc Id: NM_001287031   ⟹   NP_001273960
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,099,778 - 35,103,131 (-)NCBI
HuRef935,055,244 - 35,058,661 (-)NCBI
CHM1_1935,099,634 - 35,103,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287032   ⟹   NP_001273961
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,099,776 - 35,103,195 (-)NCBI
HuRef935,055,244 - 35,058,661 (-)NCBI
CHM1_1935,099,634 - 35,103,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287033   ⟹   NP_001273962
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,099,778 - 35,103,131 (-)NCBI
HuRef935,055,244 - 35,058,661 (-)NCBI
CHM1_1935,099,634 - 35,103,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_013442   ⟹   NP_038470
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,099,778 - 35,103,131 (-)NCBI
GRCh37935,099,888 - 35,103,184 (-)NCBI
Build 36935,089,888 - 35,093,154 (-)NCBI Archive
HuRef935,055,244 - 35,058,661 (-)NCBI
CHM1_1935,099,634 - 35,103,053 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_038470   ⟸   NM_013442
- Peptide Label: isoform a
- UniProtKB: Q9UJZ1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273961   ⟸   NM_001287032
- Peptide Label: isoform c
- UniProtKB: Q9UJZ1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273962   ⟸   NM_001287033
- Peptide Label: isoform d
- UniProtKB: A0A087WYB4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273960   ⟸   NM_001287031
- Peptide Label: isoform b
- UniProtKB: Q9UJZ1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000395743   ⟸   ENST00000452248
RefSeq Acc Id: ENSP00000481672   ⟸   ENST00000619795
RefSeq Acc Id: ENSP00000348886   ⟸   ENST00000356493
RefSeq Acc Id: ENSP00000434531   ⟸   ENST00000488050
Protein Domains
PHB

Promoters
RGD ID:6813729
Promoter ID:HG_ACW:80206
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:STOML2.MAPR07,   STOML2.OAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,091,146 - 35,091,646 (-)MPROMDB
RGD ID:6808305
Promoter ID:HG_KWN:63062
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000052273,   OTTHUMT00000052274,   OTTHUMT00000052275,   OTTHUMT00000052276,   UC003ZWH.1,   UC003ZWJ.1,   UC003ZWK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,091,491 - 35,093,347 (-)MPROMDB
RGD ID:6850590
Promoter ID:EP73086
Type:initiation region
Name:HS_STOML2
Description:Stomatin (EPB72)-like 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,093,130 - 35,093,190EPD
RGD ID:7214981
Promoter ID:EPDNEW_H13236
Type:initiation region
Name:STOML2_1
Description:stomatin like 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,103,126 - 35,103,186EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p13.3(chr9:34340255-35163258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|See cases [RCV000053751] Chr9:34340255..35163258 [GRCh38]
Chr9:34340253..35163255 [GRCh37]
Chr9:34330253..35153255 [NCBI36]
Chr9:9p13.3
pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11
pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1
likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3
pathogenic
NC_000009.11:g.(?_34458984)_(35809462_?)dup duplication Hyperphosphatasia with mental retardation syndrome 2 [RCV000540114] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
NC_000009.11:g.(?_34645556)_(36277059_?)dup duplication Anauxetic dysplasia [RCV000708053] Chr9:34645559..36277062 [GRCh38]
Chr9:34645556..36277059 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup duplication Distal spinal muscular atrophy, autosomal recessive 2 [RCV000708492] Chr9:34458984..36277059 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34458984)_(35809462_?)del deletion Hyperphosphatasia with mental retardation syndrome 2 [RCV000708109] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1 copy number loss Neurodevelopmental disorder [RCV001580195] Chr9:35059633..37660586 [GRCh37]
Chr9:9p13.3-13.2
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2
likely pathogenic
NC_000009.11:g.(?_34459004)_(36276941_?)del deletion Hyperphosphatasia with mental retardation syndrome 2 [RCV001382817] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3
pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14559 AgrOrtholog
COSMIC STOML2 COSMIC
Ensembl Genes ENSG00000165283 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000348886 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000395743 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000434531 UniProtKB/TrEMBL
  ENSP00000481672 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000356493 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000452248 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000488050 UniProtKB/TrEMBL
  ENST00000619795 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.30.479.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165283 GTEx
HGNC ID HGNC:14559 ENTREZGENE
Human Proteome Map STOML2 Human Proteome Map
InterPro Band_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Band_7/SPFH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Band_7_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Stomatin_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:30968 UniProtKB/Swiss-Prot
NCBI Gene 30968 ENTREZGENE
OMIM 608292 OMIM
Pfam Band_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Band_7_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37897 PharmGKB
PRINTS STOMATIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PHB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF117892 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WYB4 ENTREZGENE, UniProtKB/TrEMBL
  F2Z2I8_HUMAN UniProtKB/TrEMBL
  Q9UJZ1 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4E1K7 UniProtKB/Swiss-Prot
  D3DRN3 UniProtKB/Swiss-Prot
  O60376 UniProtKB/Swiss-Prot
  Q53G29 UniProtKB/Swiss-Prot
  Q96FY2 UniProtKB/Swiss-Prot
  Q9P042 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 STOML2  stomatin like 2    stomatin (EPB72)-like 2  Symbol and/or name change 5135510 APPROVED