CWH43 (cell wall biogenesis 43 C-terminal homolog)

Gene

• Entrez ID: 80157
• Gene name: Cell wall biogenesis 43 C-terminal homolog
• Gene symbol: CWH43
• Synonyms (NCBI Gene): CWH43-C, PGAP2IP
• Chromosome: 4
• Chromosome location: 4p11

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2207765	hsa-miR-1260	CLIP-seq
MIRT2207766	hsa-miR-1260b	CLIP-seq
MIRT2207767	hsa-miR-188-3p	CLIP-seq
MIRT2207768	hsa-miR-3156-3p	CLIP-seq
MIRT2207769	hsa-miR-4301	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002790	Process	Peptide secretion	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006487	Process	Protein N-linked glycosylation	IEA
GO:0006506	Process	GPI anchor biosynthetic process	IBA
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IEA
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006612	Process	Protein targeting to membrane	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007420	Process	Brain development	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0032880	Process	Regulation of protein localization	IEA
GO:0033619	Process	Membrane protein proteolysis	IEA
GO:0036211	Process	Protein modification process	IEA
GO:0042306	Process	Regulation of protein import into nucleus	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0070613	Process	Regulation of protein processing	IEA
GO:0071692	Process	Protein localization to extracellular region	IEA
GO:0090659	Process	Walking behavior	IEA
GO:0090660	Process	Cerebrospinal fluid circulation	IEA
GO:1900180	Process	Regulation of protein localization to nucleus	IEA
GO:1902531	Process	Regulation of intracellular signal transduction	IEA

Other IDs

• MIM: 618561
• HGNC: 26133
• e!Ensembl: ENSG00000109182

Protein

• UniProt ID: Q9H720
• Protein name: PGAP2-interacting protein (Cell wall biogenesis protein 43 C-terminal homolog)
• Protein function: Involved in lipid remodeling during GPI-anchor maturation.
• Sequence:

  MPSLWREILLESLLGCVSWSLYHDLGPMIYYFPLQTLELTGLEGFSIAFLSPIFLTITPF
  WKLVNKKWMLTLLRIITIGSIASFQAPNAKLRLMVLALGVSSSLIVQAVTWWSGSHLQRY
  LRIWGFILGQIVLVVLRIWYTSLNPIWSYQMSNKVILTLSAIATLDRIGTDGDCSKPEEK
  KTGEVATGMASRPNWLLAGAAFGSLVFLTHWVFGEVSLVSRWAVSGHPHPGPDPNPFGGA
  VLLCLASGLMLPSCLWFRGTGLIWWVTGTASAAGLLYLHTWAAAVSGCVFAIFTASMWPQ
  TLGHLINSGTNPGKTMTIAMIFYLLEIFFCAWCTAFKFVPGGVYARERSDVLLGTMMLII
  GLNMLFGPKKNLDLLLQTKNSSKVLFRKSEKYMKLFLWLLVGVGLLGLGLRHKAYERKLG
  KVAPTKEVSAAIWPFRFGYDNEGWSSLERSAHLLNETGADFITILESDASKPYMGNNDLT
  MWLGEKLGFYTDFGPSTRYHTWGIMALSRYPIVKSEHHLLPSPEGEIAPAITLTVNISGK
  LVDFVVTHFGNHEDDLDRKLQAIAVSKLLKSSSNQVIFLGYITSAPGSRDYLQLTEHGNV
  KDIDSTDHDRWCEYIMYRGLIRLGYARISHAELSDSEIQMAKFRIPDDPTNYRDNQKVVI
  DHREVSEKIHFNPRFGSYKEGHNYENNHHFHMNTPKYFL

• Sequence length: 699

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL LUNG DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24959000		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37894942	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	27935865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	27935865		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	38259468	Associate	★☆☆☆☆ Found in Text Mining only