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

Gene ID: 552900, updated on 3-Jun-2018
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; Vega:OTTHUMG00000176757
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
See BOLA2 in Genome Data Viewer
Location:
16p11.2
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (29453588..29454964, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29452601..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 Neighboring gene uncharacterized LOC101928556 Neighboring gene nuclear pore complex interacting protein family, member B12

  • 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 Jun 15 11:32:44 2016
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • FLJ18576, FLJ97101

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
Inferred from Sequence Model
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
[2Fe-2S] cluster assembly IDA
Inferred from Direct Assay
more info
PubMed 
interleukin-12-mediated signaling pathway TAS
Traceable Author Statement
more info
 
protein maturation by iron-sulfur cluster transfer IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
bolA-like protein 2
Names
BolA-like protein 2 member A
bolA homolog 2

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_001031827.2NP_001026997.1  bolA-like protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001026997.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC022832, BU590412
    Consensus CDS
    CCDS32426.1
    UniProtKB/Swiss-Prot
    Q9H3K6
    UniProtKB/TrEMBL
    A0A087WZT3
    Related
    ENSP00000331127.3, OTTHUMP00000254838, ENST00000330978.3, OTTHUMT00000433254
    Conserved Domains (1) summary
    pfam01722
    Location:78145
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 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.
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