Human Gene STOML2 (ENST00000356493.10_7) from GENCODE V47lift37
  Description: stomatin like 2, transcript variant 1 (from RefSeq NM_013442.3)
Gencode Transcript: ENST00000356493.10_7
Gencode Gene: ENSG00000165283.16_9
Transcript (Including UTRs)
   Position: hg19 chr9:35,099,775-35,103,128 Size: 3,354 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr9:35,100,032-35,103,091 Size: 3,060 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:35,099,775-35,103,128)mRNA (may differ from genome)Protein (356 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: STML2_HUMAN
DESCRIPTION: RecName: Full=Stomatin-like protein 2; Short=SLP-2; AltName: Full=EPB72-like protein 2;
SUBUNIT: Interacts with CACNA2D2 (By similarity).
SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein. Cytoplasm. Cytoplasm, cytoskeleton. Note=Associated with the cytoskeleton.
TISSUE SPECIFICITY: Ubiquitously expressed at low levels.
SIMILARITY: Belongs to the band 7/mec-2 family.
SEQUENCE CAUTION: Sequence=AAC07983.1; Type=Erroneous gene model prediction; Sequence=AAF29073.1; Type=Frameshift; Positions=14, 26;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: STOML2
Diseases sorted by gene-association score: multiple myeloma (3), acromesomelic dysplasia (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 78.54 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1812.66 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -10.9037-0.295 Picture PostScript Text
3' UTR -69.40257-0.270 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001107 - Band_7
IPR001972 - Stomatin

Pfam Domains:
PF01145 - SPFH domain / Band 7 family
PF16200 - C-terminal region of band_7

SCOP Domains:
53720 - ALDH-like
117892 - Band 7/SPFH domain

ModBase Predicted Comparative 3D Structure on Q9UJZ1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0051020 GTPase binding
GO:1901612 cardiolipin binding

Biological Process:
GO:0006851 mitochondrial calcium ion transport
GO:0006874 cellular calcium ion homeostasis
GO:0007005 mitochondrion organization
GO:0010876 lipid localization
GO:0010918 positive regulation of mitochondrial membrane potential
GO:0032623 interleukin-2 production
GO:0034982 mitochondrial protein processing
GO:0035710 CD4-positive, alpha-beta T cell activation
GO:0042776 mitochondrial ATP synthesis coupled proton transport
GO:0050852 T cell receptor signaling pathway
GO:0051259 protein oligomerization
GO:0090297 positive regulation of mitochondrial DNA replication
GO:1900210 positive regulation of cardiolipin metabolic process
GO:1990046 stress-induced mitochondrial fusion

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005758 mitochondrial intermembrane space
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0019897 extrinsic component of plasma membrane
GO:0045121 membrane raft
GO:0001772 immunological synapse
GO:0008180 COP9 signalosome
GO:0015629 actin cytoskeleton
GO:0042101 T cell receptor complex


-  Descriptions from all associated GenBank mRNAs
  BC003025 - Homo sapiens stomatin (EPB72)-like 2, mRNA (cDNA clone MGC:4191 IMAGE:2821269), complete cds.
AF190167 - Homo sapiens membrane associated protein SLP-2 (HUSLP2) mRNA, complete cds.
AK130546 - Homo sapiens cDNA FLJ27036 fis, clone SLV08019, highly similar to Homo sapiens stomatin (EPB72)-like 2 (STOML2).
BC014990 - Homo sapiens stomatin (EPB72)-like 2, mRNA (cDNA clone MGC:23225 IMAGE:4907745), complete cds.
BC010152 - Homo sapiens stomatin (EPB72)-like 2, mRNA (cDNA clone MGC:19715 IMAGE:3534656), complete cds.
BC002442 - Homo sapiens stomatin (EPB72)-like 2, mRNA (cDNA clone MGC:1179 IMAGE:3346384), complete cds.
AK223102 - Homo sapiens mRNA for stomatin (EPB72)-like 2 variant, clone: KAT05423.
AF161458 - Homo sapiens HSPC108 mRNA, complete cds.
AK027405 - Homo sapiens cDNA FLJ14499 fis, clone NT2RM1000080, weakly similar to UNC-1 PROTEIN.
AF282596 - Homo sapiens stomatin-like protein 2 (SLP2) mRNA, complete cds.
AK225114 - Homo sapiens mRNA for stomatin-like 2 variant, clone: CBL01844.
AK303883 - Homo sapiens cDNA FLJ61039 complete cds, highly similar to Stomatin-like protein 2.
DQ892677 - Synthetic construct clone IMAGE:100005307; FLH188778.01X; RZPDo839F1273D stomatin (EPB72)-like 2 (STOML2) gene, encodes complete protein.
KJ898778 - Synthetic construct Homo sapiens clone ccsbBroadEn_08172 STOML2 gene, encodes complete protein.
DQ895920 - Synthetic construct Homo sapiens clone IMAGE:100010380; FLH188774.01L; RZPDo839F1263D stomatin (EPB72)-like 2 (STOML2) gene, encodes complete protein.
CU677964 - Synthetic construct Homo sapiens gateway clone IMAGE:100017087 5' read STOML2 mRNA.
AK307343 - Homo sapiens cDNA, FLJ97291.
AK308552 - Homo sapiens cDNA, FLJ98593.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UJZ1 (Reactome details) participates in the following event(s):

R-HSA-8949664 Processing of SMDT1
R-HSA-8949215 Mitochondrial calcium ion transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: B4E1K7, D3DRN3, ENST00000356493.1, ENST00000356493.2, ENST00000356493.3, ENST00000356493.4, ENST00000356493.5, ENST00000356493.6, ENST00000356493.7, ENST00000356493.8, ENST00000356493.9, HSPC108, NM_013442, O60376, Q53G29, Q96FY2, Q9P042, Q9UJZ1, SLP2, STML2_HUMAN, uc317zou.1, uc317zou.2
UCSC ID: ENST00000356493.10_7
RefSeq Accession: NM_013442.3
Protein: Q9UJZ1 (aka STML2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.