SHLD2 (shieldin complex subunit 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 54537
Gene name Shieldin complex subunit 2
Gene symbol SHLD2
Synonyms (NCBI Gene)
FAM35AFAM35A1RINN2bA163M19.1
Chromosome 10
Chromosome location 10q23.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin NAS 29656893
GO:0002208 Process Somatic diversification of immunoglobulins involved in immune response NAS 29656893
GO:0005515 Function Protein binding IPI 29656893, 29789392, 34354233
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 29789392
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618029 28773 ENSG00000122376
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86V20
Protein name Shieldin complex subunit 2 (Protein FAM35A) (RINN1-REV7-interacting novel NHEJ regulator 2) (Shield complex subunit 2)
Protein function Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs) (PubMed:29656893, PubMed:29789392). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote n
PDB 6KTO , 6WWA , 7L9P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15793 FAM35_C 651 → 823 Protein family FAM35, C-terminal Family
Sequence 
MSGGSQVHIFWGAPIAPLKITVSEDTASLMSVADPWKKIQLLYSQHSLYLKDEKQHKNLE
NYKVPESIGSPDLSGHFLANCMNRHVHVKDDFVRSVSETQNIESQKIHSSRLSDITSSNM
QICGFKSTVPHFTEEEKYQKLLSENKIRDEQPKHQPDICGKNFNTNLFQLGHKCAAVLDL
VCSTEKINIGPEVVQRECVPTEYHEIQNQCLGLFSSNAVDKSRSEAAVRKVSDLKISTDT
EFLSIITSSQVAFLAQKKDKRRSPVNKGNVNMETEPKASYGEIRIPEENSIQLDGFTEAY
ESGQNQAYSLELFSPVCPKTENSRIHINSDKGLEEHTGSQELFSSEDELPPNEIRIELCS
SGILCSQLNTFHKSAIKRSCTSEDKVGQSEALSRVLQVAKKMKLISNGGDSAVEMDRRNV
SEFKSIKKTSLIKNCDSKSQKYNCLVMVLSPCHVKEINIKFGPNSGSKVPLATVTVIDQS
ETKKKVFLWRTAAFWAFTVFLGDIILLTDVVIHEDQWIGETVLQSTFSSQLLNLGSYSSI
QPEEYSSVVSEVVLQDLLAYVSSKHSYLRDLPPRQPQRVNSIDFVELEHLQPDVLVHAVL
RVVDFTILTEAVYSYRGQKQKKVMLTVEQAQDQHYALVLWGPGAAWYPQLQRKKGVVLIK
AQISELAFPITASQKIALNAHSSLKSIFSSLPNIVYTGCAKCGLELETDENRIYKQCFSC
LPFTMKKIYYRPALMTAIDGRHDVCIRVESKLIEKILLNISADCLNRVIVPSSEITYGMV
VADLFHSLLAVSAEPCVLKIQSLFVLDENSYPLQQDFSLLDFYPDIVKHGANARL
Sequence length 835
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Sarcoma Uncertain significance rs148634820 RCV005927170
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Gout Associate 29942023
Hyperuricemia Associate 29942023
Neoplasms Associate 29789392
Prostatic Neoplasms Associate 29789392