ABCB5

ATP binding cassette subfamily B member 5, the group of ATP binding cassette subfamily B

Basic information

Region (hg38): 7:20615667-20777038

Links

ENSG00000004846

∙ NCBI:340273 ∙ OMIM:611785 ∙ HGNC:46 ∙ Uniprot:Q2M3G0 ∙ 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 ABCB5 gene.

not_specified (184 variants)
not_provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABCB5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001163941.2. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				3 clinvar		3
missense			174 clinvar	11 clinvar	3 clinvar	188
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	174	14	3

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABCB5	protein_coding	protein_coding	ENST00000404938	27	161829

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.51e-37	0.0000482	106790	3319	15639	125748	0.0785

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.98	814	670	1.22	0.0000350	8173
Missense in Polyphen		282	233.18	1.2093		2815
Synonymous	-2.13	279	237	1.18	0.0000131	2420
Loss of Function	0.683	60	66.0	0.909	0.00000391	797

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.286	0.282
Ashkenazi Jewish	0.0261	0.0247
East Asian	0.497	0.432
Finnish	0.0870	0.0832
European (Non-Finnish)	0.00808	0.00756
Middle Eastern	0.497	0.432
South Asian	0.0890	0.0791
Other	0.0620	0.0561

dbNSFP

Source: dbNSFP

Function: FUNCTION: Drug efflux transporter present in a number of stem cells that acts as a regulator of cellular differentiation. Able to mediate efflux from cells of the rhodamine dye and of the therapeutic drug doxorubicin. Specifically present in limbal stem cells, where it plays a key role in corneal development and repair. {ECO:0000269|PubMed:12960149, ECO:0000269|PubMed:15205344, ECO:0000269|PubMed:15899824, ECO:0000269|PubMed:22306008}.;
Pathway: ABC transporters - Homo sapiens (human);Transport of small molecules;ABC-family proteins mediated transport (Consensus)

Recessive Scores

pRec: 0.0931

Intolerance Scores

loftool: 0.0314
rvis_EVS: 4.18
rvis_percentile_EVS: 99.7

Haploinsufficiency Scores

pHI: 0.147
hipred: N
hipred_score: 0.241
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.130

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

Gene name: Abcb5
Phenotype: vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); pigmentation phenotype; cellular phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: drug transmembrane transport;cell differentiation;regulation of membrane potential;xenobiotic transport;compound eye corneal lens development;transmembrane transport
Cellular component: plasma membrane;integral component of plasma membrane
Molecular function: ATP binding;xenobiotic transmembrane transporting ATPase activity;efflux transmembrane transporter activity