TRAPPC14 (trafficking protein particle complex subunit 14)

Gene

• Entrez ID: 55262
• Gene name: Trafficking protein particle complex subunit 14
• Gene symbol: TRAPPC14
• Synonyms (NCBI Gene): C7orf43, MAP11, MCPH25
• Chromosome: 7
• Chromosome location: 7q22.1

Gene ontology (GO)

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
GO:0030030	Process	Cell projection organization	IEA
GO:0030496	Component	Midbody	IDA	30715179
GO:0030496	Component	Midbody	IEA
GO:0031982	Component	Vesicle	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0042127	Process	Regulation of cell population proliferation	IDA	30715179
GO:0043014	Function	Alpha-tubulin binding	IBA
GO:0043014	Function	Alpha-tubulin binding	IDA	30715179
GO:0043014	Function	Alpha-tubulin binding	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	31467083
GO:0072686	Component	Mitotic spindle	IDA	30715179
GO:1990071	Component	TRAPPII protein complex	IBA
GO:1990071	Component	TRAPPII protein complex	IMP	31467083

Other IDs

• MIM: 618350
• HGNC: 25604
• e!Ensembl: ENSG00000146826

Protein

• 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:

  MESQCDYSMYFPAVPLPPRAELAGDPGRYRALPRRNHLYLGETVRFLLVLRCRGGAGSGT
  GGGPGLGSRGAWAELATALAALASVSAGGGMPGGGGAGDQDSEPPGGGDPGGGGLFRGCS
  PLLTHGPGPATSGGATTLPVEEPIVSTDEVIFPLTVSLDRLPPGTPKAKIVVTVWKREIE
  APEVRDQGYLRLLQTRSPGETFRGEQSAFKAQVSTLLTLLPPPVLRCRQFTVAGKHLTVL
  KVLNSSSQEEISIWDIRILPNFNASYLPVMPDGSVLLVDNVCHQSGEVSMGSFCRLPGTS
  GCFPCPLNALEEHNFLFQLRGGEQPPPGAKEGLEVPLIAVVQWSTPKLPFTQSIYTHYRL
  PSVRLDRPCFVMTASCKSPVRTYERFTVTYTLLNNLQDFLAVRLVWTPEHAQAGKQLCEE
  ERRAMQAALDSVVCHTPLNNLGFSRKGSALTFSVAFQALRTGLFELSQHMKLKLQFTASV
  SHPPPEARPLSRKSSPSSPAVRDLVERHQASLGRSQSFSHQQPSRSHLMRSGSVMERRAI
  TPPVASPVGRPLYLPPDKAVLSLDKIAKRECKVLVVEPVK

• Sequence length: 580

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Microcephaly 25, primary, autosomal recessive	Pathogenic	rs149225624	RCV000758704	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRAPPC14-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	BEFREE	30715179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Primary Microcephaly	Microcephaly	ORPHANET_DG	30715179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive primary microcephaly	Microcephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30447097	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30447097		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30447097		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	30715179		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only