ISM2
Isthmin-2
Also known as: FLJ32147, ISM2_HUMAN, TAIL1, THSD3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6H9L7
- Gene
- ISM2
- Ensembl
- ENSG00000100593
- Chromosome
- 14
- Canonical length
- 571 aa
- Protein class
- Predicted secreted proteins
- Subcellular location
- Nucleoplasm,Centrosome,Cytosol
- Secretome location
- Secreted in female reproductive system
OverviewNCBI Gene
The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Mar 2009]
Canonical amino-acid sequenceUniProt
571 residues, UniProt reviewed canonical sequence.
>Q6H9L7|ISM2
1 MRALRDRAGL LLCVLLLAAL LEAALGLPVK KPRLRGPRPG SLTRLAEVSA SPDPRPLKEE
61 EEAPLLPRTH LQAEPHQHGC WTVTEPAAMT PGNATPPRTP EVTPLRLELQ KLPGLANTTL
121 STPNPDTQAS ASPDPRPLRE EEEARLLPRT HLQAELHQHG CWTVTEPAAL TPGNATPPRT
181 QEVTPLLLEL QKLPELVHAT LSTPNPDNQV TIKVVEDPQA EVSIDLLAEP SNPPPQDTLS
241 WLPALWSFLW GDYKGEEKDR APGEKGEEKE EDEDYPSEDI EGEDQEDKEE DEEEQALWFN
301 GTTDNWDQGW LAPGDWVFKD SVSYDYEPQK EWSPWSPCSG NCSTGKQQRT RPCGYGCTAT
361 ETRTCDLPSC PGTEDKDTLG LPSEEWKLLA RNATDMHDQD VDSCEKWLNC KSDFLIKYLS
421 QMLRDLPSCP CAYPLEAMDS PVSLQDEHQG RSFRWRDASG PRERLDIYQP TARFCLRSML
481 SGESSTLAAQ HCCYDEDSRL LTRGKGAGMP NLISTDFSPK LHFKFDTTPW ILCKGDWSRL
541 HAVLPPNNGR ACTDNPLEEE YLAQLQEAKE YLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ISM2 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
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.52
- Highest tissue expression
- 201 nTPM
Expression across tissuesHPA
Tissue
- placenta: 201 nTPM
- epididymis: 3.4 nTPM
- basal ganglia: 2.2 nTPM
- prostate: 1.8 nTPM
- testis: 1.6 nTPM
- choroid plexus: 1.5 nTPM
Single-cell type
- extravillous trophoblasts: 1,123 nCPM
- migrating cytotrophoblasts: 494 nCPM
- cytotrophoblasts: 334 nCPM
- syncytiotrophoblasts: 193 nCPM
- oocytes: 9.2 nCPM
- epicardial cells: 9.1 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- basal ganglia: 2.6 nTPM
- choroid plexus: 1.9 nTPM
- hypothalamus: 1.8 nTPM
- amygdala: 0.8 nTPM
- cerebral cortex: 0.8 nTPM
- midbrain: 0.8 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)
- 1.18
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.35
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ISM2 as an antibody target. Whether an autoantibody or antibody against ISM2 could matter depends on whether native ISM2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ISM2 is annotated as secreted, so native ISM2 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label ISM2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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