GEMIN2
Gem-associated protein 2
Also known as: GEMI2_HUMAN, SIP1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O14893
- Gene
- GEMIN2
- Ensembl
- ENSG00000092208
- Chromosome
- 14
- Canonical length
- 280 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli,Nuclear bodies
OverviewNCBI Gene
This gene encodes one of the proteins found in the SMN complex, which consists of several gemin proteins and the protein known as the survival of motor neuron protein. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal snRNPs and for pre-mRNA splicing. This protein interacts directly with the survival of motor neuron protein and it is required for formation of the SMN complex. A knockout mouse targeting the mouse homolog of this gene exhibited disrupted snRNP assembly and motor neuron degeneration. [provided by RefSeq, Aug 2011]
Canonical amino-acid sequenceUniProt
280 residues, UniProt reviewed canonical sequence.
>O14893|GEMIN2
1 MRRAELAGLK TMAWVPAESA VEELMPRLLP VEPCDLTEGF DPSVPPRTPQ EYLRRVQIEA
61 AQCPDVVVAQ IDPKKLKRKQ SVNISLSGCQ PAPEGYSPTL QWQQQQVAQF STVRQNVNKH
121 RSHWKSQQLD SNVTMPKSED EEGWKKFCLG EKLCADGAVG PATNESPGID YVQIGFPPLL
181 SIVSRMNQAT VTSVLEYLSN WFGERDFTPE LGRWLYALLA CLEKPLLPEA HSLIRQLARR
241 CSEVRLLVDS KDDERVPALN LLICLVSRYF DQRDLADEPSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GEMIN2 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)
- 0.4
- Highest tissue expression
- 12 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 12 nTPM
- bone marrow: 9.9 nTPM
- lymph node: 8.8 nTPM
- thymus: 8.7 nTPM
- cerebellum: 7.9 nTPM
- tonsil: 7.7 nTPM
Single-cell type
- oocytes: 74 nCPM
- late spermatids: 65 nCPM
- early spermatids: 59 nCPM
- late primary spermatocytes: 39 nCPM
- early primary spermatocytes: 27 nCPM
- hepatic stellate cells: 26 nCPM
Immune cell
- myeloid DC: 16 nTPM
- plasmacytoid DC: 16 nTPM
- naive B-cell: 15 nTPM
- memory B-cell: 15 nTPM
- naive CD8 T-cell: 14 nTPM
- gdT-cell: 13 nTPM
Brain region
- cerebellum: 35 nTPM
- white matter: 24 nTPM
- choroid plexus: 24 nTPM
- cerebral cortex: 23 nTPM
- basal ganglia: 22 nTPM
- amygdala: 22 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)
- 1.02
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.12
- DepMap mean gene effect
- -0.65
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- mRNA processing
- protein-containing complex assembly
- RNA splicing
- RNA splicing, via transesterification reactions
- spliceosomal complex assembly
- spliceosomal snRNP assembly
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Gem-associated protein 2
- Gemin2/Brr1
- Survival motor neuron (SMN) interacting protein 1 (SIP1)
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GEMIN2 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 GEMIN2 as an antibody target. Whether an autoantibody or antibody against GEMIN2 could matter depends on whether native GEMIN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GEMIN2 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 GEMIN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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