• Gene id: 7127

Gene Summary

• Gene Symbol: TNFAIP2   Gene   UCSC   Ensembl
• Aliases: B94, EXOC3L3
• Gene name: TNF alpha induced protein 2
• Alternate names: tumor necrosis factor alpha-induced protein 2, exocyst complex component 3-like 3, primary response gene B94 protein, tumor necrosis factor, alpha induced protein 2,
• Gene location: 14q32.32 (103121174: 103137438)     Exons: 14     NC_000014.9
• Gene summary(Entrez): This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic ver
• OMIM: 602009

SNPs

rs17840762

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

NC_000009.12   g.125241708G>A
NC_000009.11   g.128003987G>A
NG_027761.1   g.4680C>T
NG_063123.1   g.439G>A
XR_001746927.1   n.46G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs17840761

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

NC_000009.12   g.125241700G>A
NC_000009.11   g.128003979G>A
NG_027761.1   g.4688C>T
NG_063123.1   g.431G>A
XR_001746927.1   n.38G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs3216733

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.125241516_125241517del
NC_000009.12   g.125241517del
NC_000009.12   g.125241517dup
NC_000009.12   g.125241516_125241517dup
NC_000009.11   g.128003795_128003796del
NC_000009.11   g.128003796del
NC_000009.11   g.128003796dup
NC_000009.11   g.128003795

rs5764698

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

NC_000022.11   g.45354103G>C
NC_000022.11   g.45354103G>T
NC_000022.10   g.45749983G>C
NC_000022.10   g.45749983G>T
NM_148674.5   c.3148C>G
NM_148674.5   c.3148C>A
NM_148674.4   c.3148C>G
NM_148674.4   c.3148C>A
NM_148674.3   c.3148C>G
NM_148674.3   c.3148C>A
XR_244368.  

Protein Summary

• Protein general information: Q03169  
  • Name: Tumor necrosis factor alpha induced protein 2 (TNF alpha induced protein 2) (Primary response gene B94 protein)
  • Length: 654  
  • Mass: 72661
• Sequence:

  MSEASSEDLVPPLEAGAAPYREEEEAAKKKKEKKKKSKGLANVFCVFTKGKKKKGQPSSAEPEDAAGSRQGLDGP
  PPTVEELKAALERGQLEAARPLLALERELAAAAAAGGVSEEELVRRQSKVEALYELLRDQVLGVLRRPLEAPPER
  LRQALAVVAEQEREDRQAAAAGPGTSGLAATRPRRWLQLWRRGVAEAAEERMGQRPAAGAEVPESVFLHLGRTMK
  EDLEAVVERLKPLFPAEFGVVAAYAESYHQHFAAHLAAVAQFELCERDTYMLLLWVQNLYPNDIINSPKLVGELQ
  GMGLGSLLPPRQIRLLEATFLSSEAANVRELMDRALELEARRWAEDVPPQRLDGHCHSELAIDIIQITSQAQAKA
  ESITLDLGSQIKRVLLVELPAFLRSYQRAFNEFLERGKQLTNYRANVIANINNCLSFRMSMEQNWQVPQDTLSLL
  LGPLGELKSHGFDTLLQNLHEDLKPLFKRFTHTRWAAPVETLENIIATVDTRLPEFSELQGCFREELMEALHLHL
  VKEYIIQLSKGRLVLKTAEQQQQLAGYILANADTIQHFCTQHGSPATWLQPALPTLAEIIRLQDPSAIKIEVATY
  ATCYPDFSKGHLSAILAIKGNLSNSEVKRIRSILDVSMGAQEPSRPLFSLIKVG

• Structural information:
  • Interpro: IPR010326  
  • STRING: ENSP00000452634
• Other Databases: GeneCards:  TNFAIP2  Malacards:  TNFAIP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000145	exocyst	IBA	cellular component
GO:0000149	SNARE binding	IBA	molecular function
GO:0006887	exocytosis	IBA	biological process
GO:0051601	exocyst localization	IBA	biological process
GO:0000145	exocyst	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005615	extracellular space	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray