ABCC11

ATP binding cassette subfamily C member 11, the group of ATP binding cassette subfamily C

Basic information

Region (hg38): 16:48165773-48247568

Links

ENSG00000121270

∙ NCBI:85320 ∙ OMIM:607040 ∙ HGNC:14639 ∙ Uniprot:Q96J66 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Apocrine gland secretion, variation in	AD	General	The clinical relevance is unclear	Dermatologic	16444273; 19710689

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ABCC11 gene.

not_specified (208 variants)
not_provided (18 variants)
APOCRINE_GLAND_SECRETION,_VARIATION_IN (2 variants)
ABCC11-related_condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABCC11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001370497.1. 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				2 clinvar	4 clinvar	6
missense			177 clinvar	27 clinvar	5 clinvar	209
nonsense				1 clinvar		1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	177	30	9

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABCC11	protein_coding	protein_coding	ENST00000394747	29	80659

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.99e-46	1.55e-7	122222	21	3505	125748	0.0141

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.197	809	793	1.02	0.0000447	9012
Missense in Polyphen		223	238.74	0.93405		2902
Synonymous	-0.304	332	325	1.02	0.0000196	2761
Loss of Function	-0.0885	69	68.2	1.01	0.00000345	788

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0196	0.0196
Ashkenazi Jewish	0.0194	0.0191
East Asian	0.00231	0.00229
Finnish	0.0120	0.0120
European (Non-Finnish)	0.0203	0.0204
Middle Eastern	0.00231	0.00229
South Asian	0.00235	0.00235
Other	0.0168	0.0169

dbNSFP

Source: dbNSFP

Function: FUNCTION: Participates in physiological processes involving bile acids, conjugated steroids and cyclic nucleotides (PubMed:12764137, PubMed:15537867). Enhances the cellular extrusion of cAMP and cGMP (PubMed:12764137, PubMed:15537867). Stimulates the ATP-dependent uptake of a range of physiological and synthetic lipophilic anions, including the glutathione S- conjugates leukotriene C4 and dinitrophenyl S-glutathione, steroid sulfates such as dehydroepiandrosterone 3-sulfate (DHEAS) and estrone 3-sulfate, glucuronides such as estradiol 17-beta-D- glucuronide (E(2)17betaG), the monoanionic bile acids glycocholate and taurocholate, and methotrexate (PubMed:15537867, PubMed:25896536). Probably functions to secrete earwax (PubMed:16444273, PubMed:19383836). Required for the secretion of components contributing to axillary odor formation (PubMed:19710689). {ECO:0000269|PubMed:12764137, ECO:0000269|PubMed:15537867, ECO:0000269|PubMed:16444273, ECO:0000269|PubMed:19383836, ECO:0000269|PubMed:19710689, ECO:0000269|PubMed:25896536}.;
Pathway: ABC transporters - Homo sapiens (human);Androgen and estrogen biosynthesis and metabolism;Transport of small molecules;ABC-family proteins mediated transport (Consensus)

Recessive Scores

pRec: 0.701

Intolerance Scores

loftool: 0.0152
rvis_EVS: 1.62
rvis_percentile_EVS: 96.04

Haploinsufficiency Scores

pHI: 0.224
hipred: N
hipred_score: 0.123
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.270

Gene Damage Prediction

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

Gene ontology

Biological process: organic anion transport;purine nucleotide transport;transmembrane transport;ATP hydrolysis coupled anion transmembrane transport
Cellular component: vacuolar membrane;plasma membrane;integral component of plasma membrane;membrane;cytoplasmic vesicle membrane;extracellular exosome
Molecular function: ATP binding;organic anion transmembrane transporter activity;purine nucleotide transmembrane transporter activity;ATPase activity, coupled to transmembrane movement of substances;ATPase-coupled anion transmembrane transporter activity