CHIC2 (cysteine rich hydrophobic domain 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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 miRNA information provided by mirtarbase database.
9
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (9)
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (9)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604332 1935 ENSG00000109220
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 165
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CHIC2-related disorder Likely benign rs377692827 RCV003906884
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Eosinophilia Associate 12842979
Glioma Associate 35545820, 36377597
Mastocytosis Systemic Associate 12842979
Migraine Disorders Associate 35546551
Myocardial Infarction Associate 28444175
Neoplasms Associate 33563042
Osteosarcoma Associate 33563042
Precursor T Cell Lymphoblastic Leukemia Lymphoma Associate 34492730