GEMIN2 gem nuclear organelle associated protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GEMIN2provided by HGNC
Official Full Name: gem nuclear organelle associated protein 2provided by HGNC
Primary source: HGNC:HGNC:10884
See related: Ensembl:ENSG00000092208 MIM:602595; AllianceGenome:HGNC:10884
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SIP1; SIP1-delta
Summary: 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]
Expression: Ubiquitous expression in testis (RPKM 5.8), lymph node (RPKM 4.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q21.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (39114323..39136973)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (33303000..33325655)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (39583527..39606177)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interaction between MARK3 (rs11623869), PLCB4 (rs6086746) and GEMIN2 (rs2277458) variants with bone mineral density and serum 25-hidroxivitamin D levels in Mexican Mestizo women.
Title: Interaction between MARK3 (rs11623869), PLCB4 (rs6086746) and GEMIN2 (rs2277458) variants with bone mineral density and serum 25-hidroxivitamin D levels in Mexican Mestizo women.
Here we show, using crystallographic and biochemical approaches, that Gemin2 of the SMN complex enhances RNA specificity of SmD1/D2/F/E/G via a negative cooperativity between Gemin2 and RNA in binding SmD1/D2/F/E/G.
Title: Negative cooperativity between Gemin2 and RNA provides insights into RNA selection and the SMN complex's release in snRNP assembly.
Specific mutations in the yeast Sm protein ring expose a requirement for assembly factor Brr1, a homolog of human Gemin2.
Title: Will the circle be unbroken: specific mutations in the yeast Sm protein ring expose a requirement for assembly factor Brr1, a homolog of Gemin2.
The authors propose that Gemin2 is a versatile hub for ribonucleoprotein exchange that functions broadly in RNA metabolism.
Title: A U1 snRNP-specific assembly pathway reveals the SMN complex as a versatile hub for RNP exchange.
investigate the oligomeric nature of the SMN.Gemin2 complexes from humans and fission yeast (hSMN.Gemin2 and ySMN.Gemin2)
Title: Oligomeric Properties of Survival Motor Neuron·Gemin2 Complexes.
Two monoclonal antibodies against SMN (survival-of-motor-neurons) protein bind to its site of interaction with gemin2.
Title: The gemin2-binding site on SMN protein: accessibility to antibody.
several conserved SMN residues, including the sites of two SMA patient mutations, are not required for binding to Gemin2. Instead, they form a conserved SMN/Gemin2 surface that may be functionally important for snRNP assembly.
Title: Solution structure of the core SMN-Gemin2 complex.
Overexpression of SIP1 and downregulation of E-cadherin is associated with delayed neck metastasis in stage I/II oral tongue squamous cell carcinoma after partial glossectomy
Title: Overexpression of SIP1 and downregulation of E-cadherin predict delayed neck metastasis in stage I/II oral tongue squamous cell carcinoma after partial glossectomy.
purified SMN-GEMIN2 fusion protein enhanced the RAD51-mediated homologous pairing much more efficiently than GEMIN2 alone
Title: Purification of the human SMN-GEMIN2 complex and assessment of its stimulation of RAD51-mediated DNA recombination reactions.
Study identified Gemin2 as the protein that binds a pentamer of Sm proteins comprised of SmD1/D2 and SmF/E/G; the crystal structure of this complex bound to SMN's Gemin2 binding domain to 2.5 A was determined.
Title: Structure of a key intermediate of the SMN complex reveals Gemin2's crucial function in snRNP assembly.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spinal muscular atrophy MedGen: C0026847 GeneReviews: Spinal Muscular Atrophy	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 NL4-3 replication requires GEMIN2 as replication is inhibited when GEMIN2 is deleted through CRISPR/Cas9 genome editing	PubMed
Knockdown of gem (nuclear organelle) associated protein 2 (GEMIN2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr is identified to have a physical interaction with gem (nuclear organelle) associated protein 2 (GEMIN2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
integrase	gag-pol	Tetramer formation of HIV-1 Integrase (IN) and its interaction with Gemin2 synergistically stimulate reverse transcriptase (RT) activity	PubMed
	gag-pol	The residues between 71 to 80 within the central core domain of HIV-1 IN are important for the interaction with SIP1	PubMed
	gag-pol	Survival motor neuron (SMN)-interacting protein 1 (Gemin2) binds to the C-terminal domain (amino acids 213-288) of HIV-1 Integrase and facilitates efficient viral cDNA synthesis soon after infection	PubMed
reverse transcriptase	gag-pol	Tetramer formation of HIV-1 Integrase (IN) and its interaction with Gemin2 synergistically stimulate reverse transcriptase (RT) activity	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G36130 (e-PCR)
- UniSTS:76385

NoName (e-PCR)
- UniSTS:488075

STS-N26026 (e-PCR)
- UniSTS:70835

RH69377 (e-PCR)
- UniSTS:9971

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	TAS Traceable Author Statement more info	PubMed
involved_in RNA splicing, via transesterification reactions	TAS Traceable Author Statement more info	PubMed
involved_in mRNA processing	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of RNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in spliceosomal complex assembly	IEA Inferred from Electronic Annotation more info
involved_in spliceosomal snRNP assembly	EXP Inferred from Experiment more info	PubMed
involved_in spliceosomal snRNP assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in spliceosomal snRNP assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Gemini of coiled bodies	IDA Inferred from Direct Assay more info	PubMed
part_of SMN complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SMN complex	IDA Inferred from Direct Assay more info	PubMed
part_of SMN complex	IPI Inferred from Physical Interaction more info	PubMed
part_of SMN-Sm protein complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of spliceosomal complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gem-associated protein 2

Names: SMN interacting protein 1-delta; component of gems 2; gemin-2; survival of motor neuron protein interacting protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016643.1 RefSeqGene

Range

5040..27690

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001009182.2 → NP_001009182.2 gem-associated protein 2 isoform beta

Status: REVIEWED

Description

Transcript Variant: This variant (beta) lacks an in-frame exon, compared to variant alpha. It encodes isoform beta which is shorter than isoform alpha.

Source sequence(s)

AL109628

Consensus CDS

CCDS32068.2

UniProtKB/TrEMBL

A0A3B3IU42, A0A8J9FJK1

Related

ENSP00000250379.9, ENST00000250379.13

Conserved Domains (1) summary

pfam04938
Location:34 → 247

SIP1; Survival motor neuron (SMN) interacting protein 1 (SIP1)
NM_001009183.2 → NP_001009183.2 gem-associated protein 2 isoform gamma

Status: REVIEWED

Description

Transcript Variant: This variant (gamma) lacks an internal exon, compared to variant alpha. It encodes isoform gamma which is shorter and has a unique C-terminus, compared to isoform alpha.

Source sequence(s)

AL109628

Consensus CDS

CCDS41946.2

UniProtKB/TrEMBL

A0A8J9FN78, H0YEL0

Related

ENSP00000379548.3, ENST00000396249.7

Conserved Domains (1) summary

pfam04938
Location:34 → 234

SIP1; Survival motor neuron (SMN) interacting protein 1 (SIP1)
NM_003616.3 → NP_003607.2 gem-associated protein 2 isoform alpha

Status: REVIEWED

Description

Transcript Variant: This variant (alpha) represents the longest transcript and encodes the longest isoform (alpha).

Source sequence(s)

AL109628

Consensus CDS

CCDS9669.2

UniProtKB/TrEMBL

A0A3B3IU42

Related

ENSP00000308533.7, ENST00000308317.12

Conserved Domains (1) summary

pfam04938
Location:34 → 262

SIP1; Survival motor neuron (SMN) interacting protein 1 (SIP1)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

39114323..39136973

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017021709.2 → XP_016877198.2 gem-associated protein 2 isoform X1

UniProtKB/TrEMBL

H0YEL0
XM_047431807.1 → XP_047287763.1 gem-associated protein 2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

33303000..33325655

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054376816.1 → XP_054232791.1 gem-associated protein 2 isoform X1

UniProtKB/TrEMBL

H0YEL0
XM_054376817.1 → XP_054232792.1 gem-associated protein 2 isoform X2