Gene

abcc8b

ID

ZDB-GENE-120215-45

Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 8b

Symbol

abcc8b Nomenclature History

Previous Names

si:ch73-347o10.1
zmp:0000001173

Type

protein_coding_gene

Location

Chr: 18 Mapping Details/Browsers

Description

Predicted to enable ATP binding activity; ATPase-coupled transmembrane transporter activity; and sulfonylurea receptor activity. Predicted to act upstream of or within potassium ion transport and transmembrane transport. Predicted to be located in membrane. Human ortholog(s) of this gene implicated in familial hyperinsulinemic hypoglycemia 1; glucose metabolism disease (multiple); hypertension; and leucine-sensitive hypoglycemia of infancy. Orthologous to human ABCC8 (ATP binding cassette subfamily C member 8).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With abcc8b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
familial hyperinsulinemic hypoglycemia 1	Alliance	Hyperinsulinemic hypoglycemia, familial, 1	256450
leucine-sensitive hypoglycemia of infancy	Alliance	Hypoglycemia of infancy, leucine-sensitive	240800
transient neonatal diabetes mellitus	Alliance	Diabetes mellitus, transient neonatal 2	610374
type 2 diabetes mellitus	Alliance	Diabetes mellitus, noninsulin-dependent	125853
		Diabetes mellitus, permanent neonatal 3, with or without neurologic features	618857

Associated With abcc8b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR017871	ABC transporter-like, conserved site
Domain	IPR003439	ABC transporter-like, ATP-binding domain
Domain	IPR003593	AAA+ ATPase domain
Domain	IPR011527	ABC transporter type 1, transmembrane domain
Family	IPR000388	ATP-binding cassette sub-family C member 8/9
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily	IPR036640	ABC transporter type 1, transmembrane domain superfamily

Domain Details Per Protein

Protein	Length	AAA+ ATPase domain	ABC transporter-like, ATP-binding domain	ABC transporter-like, conserved site	ABC transporter type 1, transmembrane domain	ABC transporter type 1, transmembrane domain superfamily	ATP-binding cassette sub-family C member 8/9	P-loop containing nucleoside triphosphate hydrolase
UniProtKB:A0A8M9P1L1 InterPro	798
UniProtKB:A0A8M9PAN8 InterPro	1597
UniProtKB:A0A8M9P1K6 InterPro	1607
UniProtKB:A0A8M9PG34 InterPro	1597
UniProtKB:A0A8M9PR49 InterPro	1593
UniProtKB:A0A8M9PMX8 InterPro	1586

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	abcc8b-201 (1) Ensembl	Ensembl	4,587 nt	Select Tool ZFIN BLAST
mRNA	abcc8b-202 (1) Ensembl	Ensembl	4,545 nt	Select Tool ZFIN BLAST
mRNA	abcc8b-203 (1) Ensembl	Ensembl	4,479 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations