ABCB8

protein-coding

ATP binding cassette subfamily B member 8, the group of ATP binding cassette subfamily B

Gene summary

This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

MANE transcript

NM_007188.5

Inheritance

—

ClinVar variants

U:125B:18

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.78

Max pathogenic AF

—

Genomic locus

chr7:151,028,422-151,047,782

External References & Databases

Ensembl (ENSG00000197150)

Transcript & Mutation Effects

hg38 • Region Span ~19.4 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ABCB8 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 120

not providedTotal: 9

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_007188.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	3 clinvar	4 clinvar	9
missense			117 clinvar	8 clinvar	3 clinvar	128
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	125	11	7	143

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 39 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_007188.5	RefSeq	NP_009119.2	16	MANE Select
ENST00000358849.9	Ensembl	ENSP00000351717.4	16	MANE Select
NM_001282291.2	RefSeq	NP_001269220.1	17	Standard
NM_001282292.2	RefSeq	NP_001269221.1	16	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

ABC transporters - Homo sapiens (human)
Transport of small molecules
ABC-family proteins mediated transport
Mitochondrial ABC transporters

Biological Process

transmembrane transport

Molecular Function

transporter activity
ATP binding
ATPase activity, coupled to transmembrane movement of substances

Cellular Component

nucleus
nucleolus
mitochondrion
mitochondrial envelope
mitochondrial inner membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000358849
Coding exons: 16
Length: 19360
Individuals with no LoFs: 125637
Homozygous LoFs: 0
Heterozygous LoFs: 111
Defined: 125748
p: 0.000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.299	452	470	0.961	0.0000314	4538
Missense (PolyPhen)		147	170.55	0.86193		1613
Synonymous	1.05	189	208	0.908	0.0000136	1614
Loss of Function	1.18	27	34.5	0.784	0.00000188	335

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.00041	0.00035	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0017	0.0017	notable
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00029	0.00029	rare
South Asian	0.00093	0.00088	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.155

Intolerance Scores

LoFtool: 0.118
RVIS EVS: 0.3
RVIS percentile EVS: 71.64

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.947

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium