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

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; AllianceGenome:HGNC:29488
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: all
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Genomic context

Location:: 16p11.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (29453588..29454964, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (29735379..29736755, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (29464909..29466285, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BOLA2 participates in iron homeostasis in vivo.
Title: The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.
The Glrx3 and BolA2 bound and facilitated Fe-S incorporation into Ciapin1, a [2Fe-2S] protein functioning early in the cytosolic Fe-S assembly pathway. Thus, Glrx3.BolA is a [2Fe-2S] chaperone complex capable of transferring [2Fe-2S] clusters to apoproteins in human cells.
Title: A Glutaredoxin·BolA Complex Serves as an Iron-Sulfur Cluster Chaperone for the Cytosolic Cluster Assembly Machinery.
apo GRX3 and apo BOLA2 form a heterotrimeric complex, composed by two BOLA2 molecules and one GRX3 molecule
Title: Elucidating the Molecular Function of Human BOLA2 in GRX3-Dependent Anamorsin Maturation Pathway.
BOLA2 shows Homo sapiens-specific duplication; this occurred around 280,000 years ago, with the duplication nearly fixed early in the human lineage
Title: Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.
This study reported that all three human BolA proteins (hBolA1, hBolA2, and hBolA3) are novel non-classical secreted proteins identified with bioinformatics and molecular biology experiments.
Title: hBolA, novel non-classical secreted proteins, belonging to different BolA family with functional divergence.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L18506 (e-PCR)
- UniSTS:54024

D10S275 (e-PCR)
- UniSTS:147992

LAT1-3TM__6376 (e-PCR)
- UniSTS:466267

RH76583 (e-PCR)
- UniSTS:90997

RH102308 (e-PCR)
- UniSTS:96642

Readthrough BOLA2-SMG1P6

Readthrough gene: BOLA2-SMG1P6, Included gene: SMG1P6

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
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 cell redox homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular iron ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular iron ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in iron-sulfur cluster assembly	IDA Inferred from Direct Assay 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
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
part_of iron-sulfur cluster assembly complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: bolA-like protein 2

Names: BolA-like protein 2 member A; bolA homolog 2

NCBI Reference Sequences (RefSeq)

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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)

NM_001031827.3 → NP_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

CCDS32426.2

UniProtKB/Swiss-Prot

A1L454, A7YDY3, Q9H3K6

Related

ENSP00000331127.4, ENST00000330978.4

Conserved Domains (1) summary

pfam01722
Location:12 → 79

BolA; BolA-like protein
NM_001320579.1 → NP_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

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