XRCC4 (Gene)

Synonyms:ENTREZ:7518, HGNC:12831, MIM:194363, NM_001318012, NM_001318013, NM_003401, NM_022406, NM_022550, NP_001304941, NP_001304942, NP_003392, NP_071801, NP_072044, SSMED, X-ray repair cross complementing 4, XM_011543626, XM_017009827, XM_017009828, XM_017009829, XP_011541928, XP_016865316, XP_016865317, XP_016865318, XRCC4
Omim:OMIM:194363
Id:ENSG00000152422
Hgnc:HGNC:12831
Entrez:7518
Description:X-ray repair cross complementing 4
The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View XRCC4's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with XRCC4.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using XRCC4.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for XRCC4.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with XRCC4.

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