CHIC2 (cysteine rich hydrophobic domain 2)

Gene

• Entrez ID: 26511
• Gene name: Cysteine rich hydrophobic domain 2
• Gene symbol: CHIC2
• Synonyms (NCBI Gene): BTL
• Chromosome: 4
• Chromosome location: 4q12
• Summary: This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid le

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004146	hsa-miR-197-3p	Microarray	16822819
MIRT023146	hsa-miR-124-3p	Microarray	18668037
MIRT044239	hsa-miR-29c-3p	CLASH	23622248
MIRT1963705	hsa-miR-1276	CLIP-seq
MIRT1963706	hsa-miR-29a	CLIP-seq
MIRT1963707	hsa-miR-29b	CLIP-seq
MIRT1963708	hsa-miR-29c	CLIP-seq
MIRT1963709	hsa-miR-3663-3p	CLIP-seq
MIRT1963710	hsa-miR-4773	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 25416956, 30886144, 32296183
GO:0005794	Component	Golgi apparatus	IEA
GO:0005798	Component	Golgi-associated vesicle	IBA
GO:0005798	Component	Golgi-associated vesicle	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA

Other IDs

• MIM: 604332
• HGNC: 1935
• e!Ensembl: ENSG00000109220

Protein

• UniProt ID: Q9UKJ5
• Protein name: Cysteine-rich hydrophobic domain-containing protein 2 (BrX-like translocated in leukemia)
• PDB: 8SUV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10256	Erf4	38 → 141	Golgin subfamily A member 7/ERF4 family	Domain

• Sequence:

  MADFDEIYEEEEDEERALEEQLLKYSPDPVVVRGSGHVTVFGLSNKFESEFPSSLTGKVA
  PEEFKASINRVNSCLKKNLPVNVRWLLCGCLCCCCTLGCSMWPVICLSKRTRRSIEKLLE
  WENNRLYHKLCLHWRLSKRKCETNNMMEYVILIEFLPKTPIFRPD

• Sequence length: 165

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
CHIC2-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	12842979		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	LHGDN	12842979		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	12842979	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35545820, 36377597	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10477709		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10477709		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Diffuse	Lymphoma	BEFREE	9643455		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	12842979	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	LHGDN	12842979		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	35546551	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	28444175	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33563042	Associate	★☆☆☆☆ Found in Text Mining only