TRAPPC14 (trafficking protein particle complex subunit 14)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55262
Gene name Gene Name - the full gene name approved by the HGNC.
Trafficking protein particle complex subunit 14
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRAPPC14
Synonyms (NCBI Gene) Gene synonyms aliases
C7orf43, MAP11, MCPH25
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q22.1
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 31467083, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005819 Component Spindle IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005886 Component Plasma membrane IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618350 25604 ENSG00000146826
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8WVR3
Protein name Trafficking protein particle complex subunit 14 (Microtubule-associated protein 11)
Protein function Specific subunit of the TRAPP (transport protein particle) II complex, a highly conserved vesicle tethering complex that functions in late Golgi trafficking as a membrane tether (PubMed:30715179, PubMed:31467083). TRAPP II complex also has GEF a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15806 DUF4707 139 → 579 Domain of unknown function (DUF4707) Family
Tissue specificity TISSUE SPECIFICITY: Broadly expressed. High levels in brain, cerebellum, testis and whole blood. {ECO:0000269|PubMed:30715179}.
Sequence
Sequence length 580
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Microcephaly Microcephaly 25, primary, autosomal recessive rs149225624 N/A