BOLA2

bolA family member 2

Basic information

Region (hg38): 16:29453590-29454351

Links

ENSG00000183336

∙ NCBI:552900 ∙ OMIM:613182 ∙ HGNC:29488 ∙ Uniprot:Q9H3K6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BOLA2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BOLA2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Acts as a cytosolic iron-sulfur (Fe-S) cluster assembly factor that facilitates [2Fe-2S] cluster insertion into a subset of cytosolic proteins (PubMed:26613676, PubMed:27519415). Acts together with the monothiol glutaredoxin GLRX3 (PubMed:26613676, PubMed:27519415). {ECO:0000269|PubMed:26613676, ECO:0000269|PubMed:27519415}.;
Pathway: Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation (Consensus)

Recessive Scores

pRec: 0.102

Haploinsufficiency Scores

pHI
hipred
hipred_score
ghis: 0.406

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.0345

Mouse Genome Informatics

Gene name: Bola2
Phenotype: hematopoietic system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: regulation of transcription by RNA polymerase II;interleukin-12-mediated signaling pathway;[2Fe-2S] cluster assembly;protein maturation by iron-sulfur cluster transfer
Cellular component: nucleus;cytoplasm;cytosol
Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;protein binding