NKX2-5 (Gene)

Synonyms:CHNG5, CSX, CSX1, ENTREZ:1482, HGNC:2488, HLHS2, MIM:600584, NK2 homeobox 5, NKX2-5, NKX2.5, NKX2E, NKX4-1, NM_001166175, NM_001166176, NM_004387, NP_001159647, NP_001159648, NP_004378, VSD3, XM_017009071, XP_016864560
Omim:OMIM:600584
Id:ENSG00000183072
Hgnc:HGNC:2488
Entrez:1482
Description:NK2 homeobox 5
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View NKX2-5'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 NKX2-5.

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 NKX2-5.

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 NKX2-5.

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 NKX2-5.

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