ABCB9

ATP binding cassette subfamily B member 9, the group of ATP binding cassette subfamily B

Basic information

Region (hg38): 12:122920951-122981649

Links

ENSG00000150967

∙ NCBI:23457 ∙ OMIM:605453 ∙ HGNC:50 ∙ Uniprot:Q9NP78 ∙ 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 ABCB9 gene.

not_specified (140 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABCB9 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000019625.4. 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				11 clinvar		11
missense			123 clinvar	6 clinvar		129
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	123	17	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABCB9	protein_coding	protein_coding	ENST00000542678	11	60699

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000252	0.999	125712	0	36	125748	0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.01	432	495	0.872	0.0000340	4925
Missense in Polyphen		145	168.12	0.86247		1656
Synonymous	0.486	218	227	0.959	0.0000170	1626
Loss of Function	2.96	11	27.9	0.394	0.00000127	314

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000321	0.000321
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000117	0.000114
Middle Eastern	0.000109	0.000109
South Asian	0.000267	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: ATP-dependent low-affinity peptide transporter which translocates a broad spectrum of peptides from the cytosol to the lysosomal lumen. Displays a broad peptide length specificity from 6-mer up to at least 59-mer peptides with an optimum of 23-mers. Favors positively charged, aromatic or hydrophobic residues in the N- and C-terminal positions whereas negatively charged residues as well as asparagine and methionine are not favored. {ECO:0000269|PubMed:15863492, ECO:0000269|PubMed:17977821, ECO:0000269|PubMed:18434309}.;
Pathway: Lysosome - Homo sapiens (human);ABC transporters - Homo sapiens (human);Transport of small molecules;ABC-family proteins mediated transport (Consensus)

Recessive Scores

pRec: 0.133

Intolerance Scores

loftool: 0.0299
rvis_EVS: -1.82
rvis_percentile_EVS: 2.16

Haploinsufficiency Scores

pHI: 0.269
hipred: N
hipred_score: 0.393
ghis: 0.676

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.275

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Abcb9
Phenotype: endocrine/exocrine gland phenotype;

Gene ontology

Biological process: antigen processing and presentation of peptide antigen via MHC class I;protein transport;peptide transport;oligopeptide transmembrane transport;transmembrane transport
Cellular component: lysosome;lysosomal membrane;early endosome;endoplasmic reticulum;integral component of membrane;integral component of endoplasmic reticulum membrane;intracellular membrane-bounded organelle
Molecular function: protein binding;ATP binding;oligopeptide-transporting ATPase activity;peptide-transporting ATPase activity;transmembrane transporter activity;ATPase activity, coupled to transmembrane movement of substances;protein homodimerization activity