• Gene id: 4033

Gene Summary

• Gene Symbol: IRAG2   Gene   UCSC   Ensembl
• Aliases: JAW1, LRMP
• Gene name: inositol 1,4,5-triphosphate receptor associated 2
• Alternate names: lymphoid-restricted membrane protein, lymphoid restricted membrane protein, protein Jaw1,
• Gene location: 12p12.1 (25052227: 25108334)     Exons: 24     NC_000012.12
• Gene summary(Entrez): The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
• OMIM: 608493

SNPs

rs759992

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4788494A>C
NC_000016.10   g.4788494A>G
NC_000016.9   g.4838495A>C
NC_000016.9   g.4838495A>G
NG_030315.1   g.5028T>G
NG_030315.1   g.5028T>C
NM_144605.4   c.-237T>G
NM_144605.4   c.-237T>C
NM_001154458.2   c.-237T>G
NM_001154458.2   c.-237T>C
XM_0115225  

rs3827527

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4788322G>A
NC_000016.9   g.4838323G>A
NG_030315.1   g.5200C>T
NM_144605.5   c.-65C>T
NM_144605.4   c.-65C>T
NM_001154458.3   c.-65C>T
NM_001154458.2   c.-65C>T
XM_011522379.3   c.-268C>T|SEQ=[G/A]|GENE=SEPTIN12
SMIM22   440335

rs1164594027

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4787507C>T
NC_000016.9   g.4837508C>T
NG_030315.1   g.6015G>A
NM_144605.5   c.139G>A
NM_144605.4   c.139G>A
NM_001154458.3   c.139G>A
NM_001154458.2   c.139G>A
XM_011522379.3   c.-65G>A
XM_006720846.2   c.139G>A
XM_024450155.1   c.139G>A
NP_653206.2   p.G

rs1384271239

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4787501C>G
NC_000016.9   g.4837502C>G
NG_030315.1   g.6021G>C
NM_144605.5   c.145G>C
NM_144605.4   c.145G>C
NM_001154458.3   c.145G>C
NM_001154458.2   c.145G>C
XM_011522379.3   c.-59G>C
XM_006720846.2   c.145G>C
XM_024450155.1   c.145G>C
NP_653206.2   p.G

Protein Summary

• Protein general information: Q12912  
  • Name: Lymphoid restricted membrane protein (Protein Jaw1) [Cleaved into: Processed lymphoid restricted membrane protein]
  • Length: 555  
  • Mass: 62122
  • Tissue specificity: Expressed at high levels in pre B-cells, mature B-cells and pre T-cells. Expressed at low levels in mature T-cells and plasma B-cells. Expressed in germinal center B-cells, splenic marginal zone cells and B-cell lymphomas. Expressed in
• Sequence:

  MESTPFSGVANQIHTLCERPTYGEVKDGALDVKRQHKCPGPTSGPSPGTNLSGCIRMNDDPSMEENGVERVCPES
  LLQSREYSSLPLPRHTSSTDGTITSSDPGLEILNMASCDLDRNSLCKKEEDTRSASPTIEAQGTSPAHDNIAFQD
  STSKDKTILNLEAKEEPETIEEHKKEHASGDSVVSPLPVTTVKSVNLRQSENTSANEKEVEAEFLRLSLGFKCDW
  FTLEKRVKLEERSRDLAEENLKKEITNCLKLLESLTPLCEDDNQAQEIIKKLEKSIKFLSQCAARVASRAEMLGA
  INQESRVSKAVEVMIQHVENLKRMYAKEHAELEELKQVLLQNERSFNPLEDDDDCQIKKRSASLNSKPSSLRRVT
  IASLPRNIGNAGMVAGMENNDRFSRRSSSWRILGSKQSEHRPSLPRFISTYSWADAEEEKCELKTKDDSEPSGEE
  TVERTRKPSLSEKKNNPSKWDVSSVYDTIASWATNLKSSIRKANKALWLSIAFIVLFAALMSFLTGQLFQKSVDA
  APTQQEDSWTSLEHILWPFTRLRHNGPPPV

• Structural information:
  • Interpro: IPR008677  
  • STRING: ENSP00000346442
• Other Databases: GeneCards:  IRAG2  Malacards:  IRAG2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007338	single fertilization	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006903	vesicle targeting	TAS	biological process
GO:0006906	vesicle fusion	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0035577	azurophil granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0008017	microtubule binding	ISS	molecular function
GO:0005635	nuclear envelope	ISS	cellular component
GO:0006997	nucleus organization	ISS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881