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ATP8A2 - ATPase phospholipid transporting 8A2 Gene

Also Known as IB; ATP; ML-1; ATPIB; CAMRQ4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51761

About ATP8A2

Cytogenetic location: 13q12.13 Genomic coordinates (GRCh38): 13:25,371,974-26,025,851 (from NCBI)

This gene has 19 transcripts (splice variants), 215 orthologues, 13 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 6.4), testis (RPKM 2.7) and 2 other tissues.

Summary

The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby Phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with a syndrome (CAMRQ4) characterized by cerebellar ataxia and cognitive disabilities. In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]

ATP8A2 Products (4)

mRNA	Protein	Name
NM_001313741.1	NP_001300670.1	phospholipid-transporting ATPase IB isoform 2
NM_001411005.1	NP_001397934.1	phospholipid-transporting ATPase IB isoform 3
NM_001411006.1	NP_001397935.1	phospholipid-transporting ATPase IB isoform 4
NM_016529.6	NP_057613.4	phospholipid-transporting ATPase IB isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	31397519	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	20947505	GOA
part of phospholipid-translocating ATPase complex	IPI IPI: Inferred from physical interaction	20947505	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20947505	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP8A2 Protein Structure

E1-E2_ATPase

HAD

0
200
400
600
800
1000
1188 a.a.

Protein Preferred Names	Protein Names
phospholipid-transporting ATPase IB	ATPase, aminophospholipid transporter, class I, type 8A, member 2

Related Diseases

Diseases	Alias
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4	Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 4 CAMRQ4 Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 4 Ataxia, Cerebellar, Mental Retardation, And Dysequilibrium Syndrome, Type 4
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Dysequilibrium Syndrome CAMRQ1 Des Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1 Cerebellar Hypoplasia, Vldlr-Associated Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1 Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome Uner Tan Syndrome Vldlr Cerebellar Hypoplasia Vldlrch Vldlr-Associated Cerebellar Hypoplasia Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1 Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive Camrq Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1 Cerebellar Disorder, Nonprogressive, With Intellectual Disability Cerebellar Hypoplasia, Vldlr Associated Autosomal Recessive Cerebellar Ataxia With Mental Retardation Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification Cerebellar Disorder, Nonprogressive, With Mental Retardation Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion Chmrq1 Des-Vldlr Dysequilibrium Syndrome-Vldlr Vldlr-Ch Camrq Syndrome Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome Uts Cerebellar Hypoplasia Vldlr-Associated Dialysis Disequilibrium Syndrome
Autosomal Recessive Congenital Cerebellar Ataxia
X-Linked Nephrolithiasis Type I	Nephrolithiasis 1 Nephrolithiasis X-Linked Recessive Type 1 Nphl1 X-Linked Nephrolithiasis With Renal Failure X-Linked Recessive Urolithiasis Type 1 Xrn
Tukel Syndrome	Cfeom-U Congenital Fibrosis Of The Extraocular Muscles 4 Fibrosis Of Extraocular Muscles, Congenital, With Ulnar Hand Anomalies Fibrosis Of Extraocular Muscles, Congenital, 4 Cfeom4 Congenital Extraocular Muscle Fibrosis With Ulnar Hand Anomalies Congenital Fibrosis Of The Extraocular Muscles
Barber-Say Syndrome	Hypertrichosis, Atrophic Skin, Ectropion, And Macrostomia Barber Say Syndrome BBRSAY Bss Hypertrichosis Atrophic Skin Ectropion Macrostomia Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome
Dyskinetic Cerebral Palsy	Athetoid Cerebral Palsy Athetoid Dyskinetic Cerebral Palsy Cerebral Palsy Athetoid Cerebral Palsy Dyskinetic Athetoid Cerebral Paralysis Dyskinetic Cerebral Paralysis Vogt Disease Athetoid Cerebrum Palsy Double Athetosis Syndrome État Marbré
Spastic Monoplegia	Monoplegic Infantile Cerebral Palsy Spastic Monoplegic Cerebral Palsy Infantile Monoplegic Cerebral Palsy Cerebral Palsy Spastic Monoplegic Spastic Monoplegia Cerebral Palsy
Hypotonia
Cenani-Lenz Syndactyly Syndrome	Syndactyly Type 7 Cenani Syndactylism Cenani-Lenz Syndactyly CLSS Syndactyly Cenani Lenz Type Cenani-Lenz Syndrome Syndactyly, Type Vii Cenani-Lenz Type Syndactyly Cenani Syndactyly Syndactyly Type Vii
Cholestasis, Progressive Familial Intrahepatic, 1	PFIC1 Byler Disease Cholestasis, Progressive Familial Intrahepatic 1 Progressive Familial Intrahepatic Cholestasis 1 Progressive Familial Intrahepatic Cholestasis Type 1 Fic1 Deficiency Byler'S Disease Cholestasis, Fatal Intrahepatic Progressive Familial Intrahepatic Cholestasis Severe Atp8b1 Deficiency Fatal Intrahepatic Cholestasis Cholestasis, Intrahepatic, Familial, Progressive, Type 1 Progressive Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic 3
Progressive Familial Intrahepatic Cholestasis	Abcb4-Related Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic Pfic Byler Disease Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis Bsep Deficiency Byler Disease Byler Syndrome Fic1 Deficiency Low Γ-Gt Familial Intrahepatic Cholestasis Mdr3 Deficiency Pfic Cholestasis, Intrahepatic, Familial, Progressive Pfic - [Progressive Familial Intrahepatic Cholestasis]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01238	ATP8A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ATP8A2	VGNC	VGNC:59074
Macaca mulatta	ATP8A2	VGNC	VGNC:70062
Rattus norvegicus	ATP8A2	RGD	RGD:1594597
Mus musculus	ATP8A2	MGD	MGI:1354710
Felis catus	ATP8A2	VGNC	VGNC:102166