Gene

abcc9

ID

ZDB-GENE-050517-23

Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 9

Symbol

abcc9 Nomenclature History

Previous Names

si:dkey-183c2.3
SUR2 (1)

Type

protein_coding_gene

Location

Chr: 4 Mapping Details/Browsers

Description

Predicted to have ATPase-coupled transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to localize to membrane. Used to study hypertrichotic osteochondrodysplasia Cantu type. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; dilated cardiomyopathy 1O; familial atrial fibrillation; and hypertrichotic osteochondrodysplasia Cantu type. Is expressed in heart. Orthologous to human ABCC9 (ATP binding cassette subfamily C member 9).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from 2 publications

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: 3 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With abcc9 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
dilated cardiomyopathy 1O	Alliance	Cardiomyopathy, dilated, 1O	608569
familial atrial fibrillation	Alliance	?Atrial fibrillation, familial, 12	614050
hypertrichotic osteochondrodysplasia Cantu type	Alliance	Hypertrichotic osteochondrodysplasia (Cantu syndrome)	239850
intellectual disability and myopathy syndrome	Alliance	Intellectual disability and myopathy syndrome	619719

Associated With abcc9 Via Experimental Models

Human Disease	Fish	Conditions	Citations
hypertrichotic osteochondrodysplasia Cantu type	abcc9^hu11838/+	standard conditions	Tessadori et al., 2018

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
Domain	IPR047080	ATP-binding cassette sub-family C member 9, ATP-binding cassette domain 1
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	ATP-binding cassette sub-family C member 9, ATP-binding cassette domain 1	P-loop containing nucleoside triphosphate hydrolase
UniProtKB:A0A8M6YY04 InterPro	1570
UniProtKB:A0A8M2BBV1 InterPro	1571
UniProtKB:Q5RH87 InterPro	1558
UniProtKB:A0A8M2BC16 InterPro	1583
UniProtKB:A0A0R4IAS5 InterPro	1557
UniProtKB:A0A8M2BBT3 InterPro	1583
UniProtKB:A0A8M6Z5C5 InterPro	1582
UniProtKB:A0A8M2BBZ7 InterPro	1558

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	abcc9-201 (1) Ensembl	Ensembl	4,737 nt	Select Tool
mRNA	abcc9-202 (1) Ensembl	Ensembl	4,230 nt	Select Tool
mRNA	abcc9-203 (1) Ensembl	Ensembl	4,718 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