• Gene id: 54537

Gene Summary

• Gene Symbol: SHLD2   Gene   UCSC   Ensembl
• Aliases: FAM35A, FAM35A1, RINN2, bA163M19.1
• Gene name: shieldin complex subunit 2
• Alternate names: shieldin complex subunit 2, RINN1-REV7-interacting novel NHEJ regulator 2, family with sequence similarity 35 member A, protein FAM35A, shield complex subunit 2,
• Gene location: 10q23.2 (24270816: 24417739)     Exons: 19     NC_000022.11
• OMIM: 618029

Protein Summary

• Protein general information: Q86V20  
  • Name: Shieldin complex subunit 2 (Protein FAM35A) (RINN1 REV7 interacting novel NHEJ regulator 2) (Shield complex subunit 2)
  • Length: 835  
  • Mass: 93705
• Sequence:

  MSGGSQVHIFWGAPIAPLKITVSEDTASLMSVADPWKKIQLLYSQHSLYLKDEKQHKNLENYKVPESIGSPDLSG
  HFLANCMNRHVHVKDDFVRSVSETQNIESQKIHSSRLSDITSSNMQICGFKSTVPHFTEEEKYQKLLSENKIRDE
  QPKHQPDICGKNFNTNLFQLGHKCAAVLDLVCSTEKINIGPEVVQRECVPTEYHEIQNQCLGLFSSNAVDKSRSE
  AAVRKVSDLKISTDTEFLSIITSSQVAFLAQKKDKRRSPVNKGNVNMETEPKASYGEIRIPEENSIQLDGFTEAY
  ESGQNQAYSLELFSPVCPKTENSRIHINSDKGLEEHTGSQELFSSEDELPPNEIRIELCSSGILCSQLNTFHKSA
  IKRSCTSEDKVGQSEALSRVLQVAKKMKLISNGGDSAVEMDRRNVSEFKSIKKTSLIKNCDSKSQKYNCLVMVLS
  PCHVKEINIKFGPNSGSKVPLATVTVIDQSETKKKVFLWRTAAFWAFTVFLGDIILLTDVVIHEDQWIGETVLQS
  TFSSQLLNLGSYSSIQPEEYSSVVSEVVLQDLLAYVSSKHSYLRDLPPRQPQRVNSIDFVELEHLQPDVLVHAVL
  RVVDFTILTEAVYSYRGQKQKKVMLTVEQAQDQHYALVLWGPGAAWYPQLQRKKGVVLIKAQISELAFPITASQK
  IALNAHSSLKSIFSSLPNIVYTGCAKCGLELETDENRIYKQCFSCLPFTMKKIYYRPALMTAIDGRHDVCIRVES
  KLIEKILLNISADCLNRVIVPSSEITYGMVVADLFHSLLAVSAEPCVLKIQSLFVLDENSYPLQQDFSLLDFYPD
  IVKHGANARL

• Structural information:
  • Interpro: IPR029715  IPR031589  
  • STRING: ENSP00000298784
• Other Databases: GeneCards:  SHLD2  Malacards:  SHLD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010569	regulation of double-strand break repair via homologous recombination	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0035861	site of double-strand break	IBA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0035861	site of double-strand break	IDA	cellular component
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005694	chromosome	IDA	cellular component
GO:0045830	positive regulation of isotype switching	IDA	biological process
GO:2001034	positive regulation of double-strand break repair via nonhomologous end joining	IDA	biological process
GO:2001034	positive regulation of double-strand break repair via nonhomologous end joining	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)