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Protein

Stomatin-like protein 2, mitochondrial

Gene

STOML2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Mitochondrial protein that probably regulates the biogenesis and the activity of mitochondria. Stimulates cardiolipin biosynthesis, binds cardiolipin-enriched membranes where it recruits and stabilizes some proteins including prohibitin and may therefore act in the organization of functional microdomains in mitochondrial membranes. Through regulation of the mitochondrial function may play a role into several biological processes including cell migration, cell proliferation, T-cell activation, calcium homeostasis and cellular response to stress. May play a role in calcium homeostasis through negative regulation of calcium efflux from mitochondria. Required for mitochondrial hyperfusion a pro-survival cellular response to stress which results in increased ATP production by mitochondria. May also regulate the organization of functional domains at the plasma membrane and play a role in T-cell activation through association with the T-cell receptor signaling complex and its regulation.6 Publications

Miscellaneous

Paratarg-7/STOML2 is a frequent autoantigenic target in monoclonal gammopathy of undetermined significance (MGUS), multiple myeloma (MM) and Waldenstrom macroglobulinemia, 3 B-cell neoplasms associated with excessive secretion of a single monoclonal gammaglobulin (also named paraprotein) in the blood.1 Publication

GO - Molecular functioni

  • cardiolipin binding Source: UniProtKB
  • GTPase binding Source: UniProtKB
  • signaling receptor binding Source: ProtInc

GO - Biological processi

Keywordsi

LigandLipid-binding

Enzyme and pathway databases

ReactomeiR-HSA-8949664 Processing of SMDT1

Names & Taxonomyi

Protein namesi
Recommended name:
Stomatin-like protein 2, mitochondrial
Short name:
SLP-2
Alternative name(s):
EPB72-like protein 2
Paraprotein target 7
Short name:
Paratarg-7
Gene namesi
Name:STOML2
Synonyms:SLP2
ORF Names:HSPC108
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000165283.15
HGNCiHGNC:14559 STOML2
MIMi608292 gene
neXtProtiNX_Q9UJZ1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi30968
OpenTargetsiENSG00000165283
PharmGKBiPA37897

Polymorphism and mutation databases

DMDMi60415944

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 28MitochondrionCuratedAdd BLAST28
ChainiPRO_000009403129 – 356Stomatin-like protein 2, mitochondrialAdd BLAST328

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei17Phosphoserine; by PKC/PRKCZ1 Publication1
Modified residuei124PhosphotyrosineCombined sources1
Modified residuei145N6-acetyllysine; alternateCombined sources1
Modified residuei145N6-succinyllysine; alternateBy similarity1
Modified residuei233N6-acetyllysineCombined sources1
Modified residuei327PhosphothreonineCombined sources1
Modified residuei330PhosphoserineCombined sources1

Post-translational modificationi

Hyperphosphorylated at Ser-17 in some patients with monoclonal gammopathy of undetermined significance (MGUS), multiple myeloma (MM) and Waldenstrom macroglobulinemia due to impaired dephosphorylation by PP2A.

Keywords - PTMi

Acetylation, Lipoprotein, Phosphoprotein

Proteomic databases

EPDiQ9UJZ1
PaxDbiQ9UJZ1
PeptideAtlasiQ9UJZ1
PRIDEiQ9UJZ1
ProteomicsDBi84697
TopDownProteomicsiQ9UJZ1-1 [Q9UJZ1-1]

2D gel databases

OGPiQ9UJZ1
REPRODUCTION-2DPAGEiIPI00334190

PTM databases

iPTMnetiQ9UJZ1
PhosphoSitePlusiQ9UJZ1
SwissPalmiQ9UJZ1

Expressioni

Tissue specificityi

Ubiquitously expressed at low levels. Expressed in lymphoid tissues (at protein level).3 Publications

Inductioni

Up-regulated in activated B- and T-cells and upon mitochondrial stress by chloramphenicol.2 Publications

Gene expression databases

BgeeiENSG00000165283 Expressed in 230 organ(s), highest expression level in apex of heart
CleanExiHS_STOML2
ExpressionAtlasiQ9UJZ1 baseline and differential
GenevisibleiQ9UJZ1 HS

Organism-specific databases

HPAiCAB015944
HPA062016

Interactioni

Subunit structurei

Forms homooligomers. Interacts with MFN2; may form heterooligomers. Interacts with CACNA2D2 (By similarity). Interacts with PHB and PHB2; recruits them to cardiolipin-enriched mitochondrial membranes and stabilizes them.By similarity3 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119062, 94 interactors
IntActiQ9UJZ1, 58 interactors
MINTiQ9UJZ1
STRINGi9606.ENSP00000348886

Structurei

3D structure databases

ProteinModelPortaliQ9UJZ1
SMRiQ9UJZ1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili215 – 252Sequence analysisAdd BLAST38

Sequence similaritiesi

Belongs to the band 7/mec-2 family.Curated

Keywords - Domaini

Coiled coil, Transit peptide

Phylogenomic databases

eggNOGiKOG2620 Eukaryota
COG0330 LUCA
GeneTreeiENSGT00550000074454
HOGENOMiHOG000217038
HOVERGENiHBG061488
InParanoidiQ9UJZ1
OMAiRDQINGQ
OrthoDBiEOG091G0MSB
PhylomeDBiQ9UJZ1
TreeFamiTF105750

Family and domain databases

InterProiView protein in InterPro
IPR001107 Band_7
IPR036013 Band_7/SPFH_dom_sf
IPR032435 Band_7_C
IPR001972 Stomatin_fam
PfamiView protein in Pfam
PF01145 Band_7, 1 hit
PF16200 Band_7_C, 1 hit
PRINTSiPR00721 STOMATIN
SMARTiView protein in SMART
SM00244 PHB, 1 hit
SUPFAMiSSF117892 SSF117892, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UJZ1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLARAARGTG ALLLRGSLLA SGRAPRRASS GLPRNTVVLF VPQQEAWVVE
60 70 80 90 100
RMGRFHRILE PGLNILIPVL DRIRYVQSLK EIVINVPEQS AVTLDNVTLQ
110 120 130 140 150
IDGVLYLRIM DPYKASYGVE DPEYAVTQLA QTTMRSELGK LSLDKVFRER
160 170 180 190 200
ESLNASIVDA INQAADCWGI RCLRYEIKDI HVPPRVKESM QMQVEAERRK
210 220 230 240 250
RATVLESEGT RESAINVAEG KKQAQILASE AEKAEQINQA AGEASAVLAK
260 270 280 290 300
AKAKAEAIRI LAAALTQHNG DAAASLTVAE QYVSAFSKLA KDSNTILLPS
310 320 330 340 350
NPGDVTSMVA QAMGVYGALT KAPVPGTPDS LSSGSSRDVQ GTDASLDEEL

DRVKMS
Length:356
Mass (Da):38,534
Last modified:May 1, 2000 - v1
Checksum:i672331B57C82654E
GO
Isoform 2 (identifier: Q9UJZ1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     149-193: Missing.

Note: No experimental confirmation available.
Show »
Length:311
Mass (Da):33,337
Checksum:i3C391E1AFC830705
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WYB4A0A087WYB4_HUMAN
Stomatin-like protein 2, mitochondr...
STOML2
310Annotation score:
F2Z2I8F2Z2I8_HUMAN
Stomatin-like protein 2, mitochondr...
STOML2
101Annotation score:

Sequence cautioni

The sequence AAC07983 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence AAF29073 differs from that shown. Reason: Frameshift at positions 14 and 26.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti14L → M in AAC07983 (PubMed:15164053).Curated1
Sequence conflicti83V → I in BAD96822 (Ref. 4) Curated1
Sequence conflicti202A → P in AAF29073 (PubMed:11042152).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026830129L → P1 PublicationCorresponds to variant dbSNP:rs17856326Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_054651149 – 193Missing in isoform 2. 1 PublicationAdd BLAST45

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF190167 mRNA Translation: AAF09142.1
AF282596 mRNA Translation: AAF91466.1
AK027405 mRNA Translation: BAB55091.1
AK303883 mRNA Translation: BAG64819.1
AK223102 mRNA Translation: BAD96822.1
AL353795 Genomic DNA No translation available.
AC004472 Genomic DNA Translation: AAC07983.1 Sequence problems.
CH471071 Genomic DNA Translation: EAW58395.1
CH471071 Genomic DNA Translation: EAW58396.1
BC002442 mRNA Translation: AAH02442.1
BC003025 mRNA Translation: AAH03025.1
BC010152 mRNA Translation: AAH10152.1
BC014990 mRNA Translation: AAH14990.1
AF161458 mRNA Translation: AAF29073.1 Frameshift.
CCDSiCCDS6577.1 [Q9UJZ1-1]
CCDS69588.1 [Q9UJZ1-2]
PIRiT02246
RefSeqiNP_001273960.1, NM_001287031.1 [Q9UJZ1-2]
NP_001273961.1, NM_001287032.1
NP_038470.1, NM_013442.2 [Q9UJZ1-1]
UniGeneiHs.3439

Genome annotation databases

EnsembliENST00000356493; ENSP00000348886; ENSG00000165283 [Q9UJZ1-1]
ENST00000452248; ENSP00000395743; ENSG00000165283 [Q9UJZ1-2]
GeneIDi30968
KEGGihsa:30968
UCSCiuc003zwi.5 human [Q9UJZ1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF190167 mRNA Translation: AAF09142.1
AF282596 mRNA Translation: AAF91466.1
AK027405 mRNA Translation: BAB55091.1
AK303883 mRNA Translation: BAG64819.1
AK223102 mRNA Translation: BAD96822.1
AL353795 Genomic DNA No translation available.
AC004472 Genomic DNA Translation: AAC07983.1 Sequence problems.
CH471071 Genomic DNA Translation: EAW58395.1
CH471071 Genomic DNA Translation: EAW58396.1
BC002442 mRNA Translation: AAH02442.1
BC003025 mRNA Translation: AAH03025.1
BC010152 mRNA Translation: AAH10152.1
BC014990 mRNA Translation: AAH14990.1
AF161458 mRNA Translation: AAF29073.1 Frameshift.
CCDSiCCDS6577.1 [Q9UJZ1-1]
CCDS69588.1 [Q9UJZ1-2]
PIRiT02246
RefSeqiNP_001273960.1, NM_001287031.1 [Q9UJZ1-2]
NP_001273961.1, NM_001287032.1
NP_038470.1, NM_013442.2 [Q9UJZ1-1]
UniGeneiHs.3439

3D structure databases

ProteinModelPortaliQ9UJZ1
SMRiQ9UJZ1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119062, 94 interactors
IntActiQ9UJZ1, 58 interactors
MINTiQ9UJZ1
STRINGi9606.ENSP00000348886

PTM databases

iPTMnetiQ9UJZ1
PhosphoSitePlusiQ9UJZ1
SwissPalmiQ9UJZ1

Polymorphism and mutation databases

DMDMi60415944

2D gel databases

OGPiQ9UJZ1
REPRODUCTION-2DPAGEiIPI00334190

Proteomic databases

EPDiQ9UJZ1
PaxDbiQ9UJZ1
PeptideAtlasiQ9UJZ1
PRIDEiQ9UJZ1
ProteomicsDBi84697
TopDownProteomicsiQ9UJZ1-1 [Q9UJZ1-1]

Protocols and materials databases

DNASUi30968
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356493; ENSP00000348886; ENSG00000165283 [Q9UJZ1-1]
ENST00000452248; ENSP00000395743; ENSG00000165283 [Q9UJZ1-2]
GeneIDi30968
KEGGihsa:30968
UCSCiuc003zwi.5 human [Q9UJZ1-1]

Organism-specific databases

CTDi30968
DisGeNETi30968
EuPathDBiHostDB:ENSG00000165283.15
GeneCardsiSTOML2
HGNCiHGNC:14559 STOML2
HPAiCAB015944
HPA062016
MIMi608292 gene
neXtProtiNX_Q9UJZ1
OpenTargetsiENSG00000165283
PharmGKBiPA37897
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2620 Eukaryota
COG0330 LUCA
GeneTreeiENSGT00550000074454
HOGENOMiHOG000217038
HOVERGENiHBG061488
InParanoidiQ9UJZ1
OMAiRDQINGQ
OrthoDBiEOG091G0MSB
PhylomeDBiQ9UJZ1
TreeFamiTF105750

Enzyme and pathway databases

ReactomeiR-HSA-8949664 Processing of SMDT1

Miscellaneous databases

ChiTaRSiSTOML2 human
GeneWikiiSTOML2
GenomeRNAii30968
PROiPR:Q9UJZ1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165283 Expressed in 230 organ(s), highest expression level in apex of heart
CleanExiHS_STOML2
ExpressionAtlasiQ9UJZ1 baseline and differential
GenevisibleiQ9UJZ1 HS

Family and domain databases

InterProiView protein in InterPro
IPR001107 Band_7
IPR036013 Band_7/SPFH_dom_sf
IPR032435 Band_7_C
IPR001972 Stomatin_fam
PfamiView protein in Pfam
PF01145 Band_7, 1 hit
PF16200 Band_7_C, 1 hit
PRINTSiPR00721 STOMATIN
SMARTiView protein in SMART
SM00244 PHB, 1 hit
SUPFAMiSSF117892 SSF117892, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSTML2_HUMAN
AccessioniPrimary (citable) accession number: Q9UJZ1
Secondary accession number(s): B4E1K7
, D3DRN3, O60376, Q53G29, Q96FY2, Q9P042
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: May 1, 2000
Last modified: November 7, 2018
This is version 153 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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