MTMR8
Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR8
Also known as: FLJ20126, MTMR8_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96EF0
- Gene
- MTMR8
- Ensembl
- ENSG00000102043
- Chromosome
- X
- Canonical length
- 704 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted intracellular proteins
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases. [provided by RefSeq, Mar 2010]
Canonical amino-acid sequenceUniProt
704 residues, UniProt reviewed canonical sequence.
>Q96EF0|MTMR8
1 MDHITVPKVE NVKLVDRYVS KKPANGILYL TATHLIYVEA SGAARKETWI ALHHIATVEK
61 LPITSLGCPL TLRCKNFRVA HFVLDSDLVC HEVYISLLKL SQPALPEDLY AFSYNPKSSK
121 EMRESGWKLI DPISDFGRMG IPNRNWTITD ANRNYEICST YPPEIVVPKS VTLGTVVGSS
181 KFRSKERVPV LSYLYKENNA AICRCSQPLS GFYTRCVDDE LLLEAISQTN PGSQFMYVVD
241 TRPKLNAMAN RAAGKGYENE DNYANIRFRF MGIENIHVMR SSLQKLLEVC ELKTPTMSEF
301 LSGLESSGWL RHIKAIMDAG IFITKAVKVE KASVLVHCSD GWDRTAQVCS VASILLDPFY
361 RTFKGLMILI EKEWISMGHK FSQRCGHLDG DSKEVSPIFT QFLDCIWQLM EQFPCAFEFN
421 ENFLLEIHDH VFSCQFGNFL GNCQKDREDL RVYEKTHSVW PFLVQRKPDF RNPLYKGFTM
481 YGVLNPSTVP YNIQFWCGMY NRFDKGLQPK QSMLESLLEI KKQRAMLETD VHELEKKLKV
541 RDEPPEEICT CSQLGNILSQ HLGSPLTNPL GFMGINGDLN TLMENGTLSR EGGLRAQMDQ
601 VKSQGADLHH NCCEIVGSLR AINISGDVGI SEAMGISGDM CTFEATGFSK DLGICGAMDI
661 SEATGISGNL GISEARGFSG DMGILGDTGI SKASTKEADY SKHQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MTMR8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 2.2 nTPM
Expression across tissuesHPA
Tissue
- fallopian tube: 2.2 nTPM
- rectum: 1.3 nTPM
- seminal vesicle: 1.2 nTPM
- colon: 1.1 nTPM
- stomach: 1.1 nTPM
- tonsil: 1.1 nTPM
Single-cell type
- fibro-adipogenic progenitors: 76 nCPM
- choroid plexus epithelial cells: 66 nCPM
- endometrial ciliated cells: 60 nCPM
- foveolar cells: 56 nCPM
- adrenal medulla cells: 53 nCPM
- fallopian tube ciliated cells: 51 nCPM
Immune cell
- naive CD4 T-cell: 1.5 nTPM
- naive B-cell: 1.3 nTPM
- naive CD8 T-cell: 1.3 nTPM
- gdT-cell: 1.2 nTPM
- memory B-cell: 1.2 nTPM
- memory CD4 T-cell: 1.2 nTPM
Brain region
- choroid plexus: 3.7 nTPM
- cerebellum: 2 nTPM
- midbrain: 2 nTPM
- hypothalamus: 1.9 nTPM
- pons: 1.9 nTPM
- medulla oblongata: 1.8 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.84
- gnomAD pLI
- 0
- gnomAD missense Z
- -2.34
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
- phosphatidylinositol-3,5-bisphosphate phosphatase activity
- phosphatidylinositol-3-phosphate phosphatase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Protein-tyrosine phosphatase, catalytic
- Myotubularin-like, phosphatase domain
- PH-like domain superfamily
- Protein-tyrosine phosphatase, active site
- Protein-tyrosine phosphatase-like
- Myotubularin
- MTMR6-9, GRAM domain
- Myotubularin-like phosphatase domain
- MTMR6-9, GRAM domain
- MTMR8, protein tyrosine phosphatase domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MTMR8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MTMR8 as an antibody target. Whether an autoantibody or antibody against MTMR8 could matter depends on whether native MTMR8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MTMR8 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MTMR8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...