CHIC2 (cysteine rich hydrophobic domain 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26511
Gene name Gene Name - the full gene name approved by the HGNC.
Cysteine rich hydrophobic domain 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHIC2
Synonyms (NCBI Gene) Gene synonyms aliases
BTL
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604332 1935 ENSG00000109220
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Sequence length 165
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Myeloid Leukemia acute myeloid leukemia N/A N/A GenCC
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease 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