Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IDA	29656893
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0010569	Process	Regulation of double-strand break repair via homologous recombination	IBA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0035861	Component	Site of double-strand break	IBA
GO:0035861	Component	Site of double-strand break	IDA	29656893
GO:0035861	Component	Site of double-strand break	NAS	29656893
GO:0043247	Process	Telomere maintenance in response to DNA damage	NAS	29656893
GO:0045830	Process	Positive regulation of isotype switching	IDA	29656893
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IDA	29656893
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	IDA	29656893, 29789392
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	NAS	29656893

MIM	HGNC	e!Ensembl
618029	28773	ENSG00000122376

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	27899376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASCAT_DG	27899376		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	Pubtator	29942023	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemia	Hyperuricemia	BEFREE	29942023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	29942023	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29789392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29789392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SHLD2 (shieldin complex subunit 2)