Format

Send to:

Choose Destination

BOLA2 bolA family member 2 [ Homo sapiens (human) ]

Gene ID: 552900, updated on 5-Sep-2021

Summary

Official Symbol
BOLA2provided by HGNC
Official Full Name
bolA family member 2provided by HGNC
Primary source
HGNC:HGNC:29488
See related
Ensembl:ENSG00000183336 MIM:613182
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
My016; BOLA2A; BOLA2B
Summary
This gene is located within a region of a segmental duplication on chromosome 16 and is identical to BOLA2B (bolA family member 2B). The product of this gene belongs to a family of proteins that are widely conserved and may be involved in iron maturation. Related pseudogenes are found multiple different chromosomes. Alternative splicing results in multiple transcript variants. Transcripts initiating at this locus may extend into downstream SMG1 pseudogene 6 (SMG1P6) and encode fusion proteins with a C-terminus related to SMG1 phosphatidylinositol 3-kinase-related kinase. A readthrough locus is represented with GeneID:107282092. [provided by RefSeq, Feb 2016]
Expression
Ubiquitous expression in duodenum (RPKM 26.2), small intestine (RPKM 23.0) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See BOLA2 in Genome Data Viewer
Location:
16p11.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (29453588..29454964, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29464909..29466285, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene SMG1 pseudogene 6 Neighboring gene BOLA2-SMG1P6 readthrough Neighboring gene coronin 1A pseudogene Neighboring gene SLX1B-SULT1A4 readthrough (NMD candidate) Neighboring gene SLX1 homolog B, structure-specific endonuclease subunit Neighboring gene sulfotransferase family 1A member 4 Neighboring gene SAGA complex associated factor 29 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ18576, FLJ97101

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2 iron, 2 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
enables iron-sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in [2Fe-2S] cluster assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular iron ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein maturation by iron-sulfur cluster transfer IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
bolA-like protein 2
Names
BolA-like protein 2 member A
bolA homolog 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001031827.3NP_001026997.2  bolA-like protein 2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC133555
    Consensus CDS
    CCDS32426.1
    Related
    ENSP00000331127.3, ENST00000330978.3
    Conserved Domains (1) summary
    pfam01722
    Location:1279
    BolA; BolA-like protein
  2. NM_001320579.1NP_001307508.1  bolA-like protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct, shorter C-terminus than isoform 1.
    Source sequence(s)
    BC022832, BC104642, BU590412
    UniProtKB/Swiss-Prot
    Q9H3K6

RNA

  1. NR_135304.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' region compared to variant 1. This variant is represented as non-coding because it does not contain a significant open reading frame compared to variant 1.
    Source sequence(s)
    AC133555, BQ639539, BU590412

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    29453588..29454964 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001031833.1: Suppressed sequence

    Description
    NM_001031833.1: This RefSeq was removed because it represents a readthrough transcript.
Support Center