CIB2 (Gene)

Synonyms:CIB2, DFNB48, ENTREZ:10518, HGNC:24579, KIP2, MIM:605564, NM_001271888, NM_001271889, NM_001301224, NM_006383, NP_001258817, NP_001258818, NP_001288153, NP_006374, NR_125435, USH1J, XM_005254126, XM_006720374, XM_011521161, XP_005254183, XP_006720437, XP_011519463, XR_001751051, calcium and integrin binding family member 2
Omim:OMIM:605564
Id:ENSG00000136425
Hgnc:HGNC:24579
Entrez:10518
Description:calcium and integrin binding family member 2
The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View CIB2'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 CIB2.

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 CIB2.

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 CIB2.

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 CIB2.

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