Identity
HGNC
LOCATION
16p11.2
LOCUSID
ALIAS
BOLA2A,BOLA2B,My016
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 552900
MIM: 613182
HGNC: 29488
Ensembl: ENSG00000183336
Variants:
dbSNP: 552900
ClinVar: 552900
TCGA: ENSG00000183336
COSMIC: BOLA2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000183336 | ENST00000330978 | Q9H3K6 |
| ENSG00000183336 | ENST00000380596 | A0A087WZT3 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31668704 | 2019 | The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. | 19 |
| 31668704 | 2019 | The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. | 19 |
| 27487209 | 2016 | Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility. | 61 |
| 27519415 | 2016 | A Glutaredoxin·BolA Complex Serves as an Iron-Sulfur Cluster Chaperone for the Cytosolic Cluster Assembly Machinery. | 42 |
| 27487209 | 2016 | Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility. | 61 |
| 27519415 | 2016 | A Glutaredoxin·BolA Complex Serves as an Iron-Sulfur Cluster Chaperone for the Cytosolic Cluster Assembly Machinery. | 42 |
| 26613676 | 2015 | Elucidating the Molecular Function of Human BOLA2 in GRX3-Dependent Anamorsin Maturation Pathway. | 37 |
| 26613676 | 2015 | Elucidating the Molecular Function of Human BOLA2 in GRX3-Dependent Anamorsin Maturation Pathway. | 37 |
| 18548201 | 2008 | hBolA, novel non-classical secreted proteins, belonging to different BolA family with functional divergence. | 12 |
| 18548201 | 2008 | hBolA, novel non-classical secreted proteins, belonging to different BolA family with functional divergence. | 12 |
Citation
Dessen P
BOLA2 (bolA family member 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60784/
