Format

Send to:

Choose Destination

PLEKHA8 pleckstrin homology domain containing A8 [ Homo sapiens (human) ]

Gene ID: 84725, updated on 7-Dec-2018

Summary

Official Symbol
PLEKHA8provided by HGNC
Official Full Name
pleckstrin homology domain containing A8provided by HGNC
Primary source
HGNC:HGNC:30037
See related
Ensembl:ENSG00000106086 MIM:608639
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAPP2
Expression
Ubiquitous expression in placenta (RPKM 2.2), testis (RPKM 1.3) and 25 other tissues See more
Orthologs

Genomic context

See PLEKHA8 in Genome Data Viewer
Location:
7p14.3
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (30028361..30130483)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (30067977..30157961)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene secernin 1 Neighboring gene uncharacterized LOC105375215 Neighboring gene FKBP prolyl isomerase 14 Neighboring gene uncharacterized LOC105375216 Neighboring gene maturin, neural progenitor differentiation regulator homolog Neighboring gene ribosomal protein S27 pseudogene 16

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
NHGRI GWA Catalog

Pathways from BioSystems

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • PI Metabolism, organism-specific biosystem (from REACTOME)
    PI Metabolism, organism-specific biosystemPhosphatidylinositol (PI), a membrane phospholipid, can be reversibly phosphorylated at the 3, 4, and 5 positions of the inositol ring to generate seven phosphoinositides: phosphatidylinositol 3-phos...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
  • Synthesis of PIPs at the plasma membrane, organism-specific biosystem (from REACTOME)
    Synthesis of PIPs at the plasma membrane, organism-specific biosystemAt the plasma membrane, subsequent phosphorylation of phosphatidylinositol 4-phosphate (PI4P) produces phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2) and phosphatidylinositol 3,4,5-trisphosphate (...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3358, DKFZp313M1034, DKFZp686J09164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ceramide 1-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide 1-phosphate transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ceramide binding IDA
Inferred from Direct Assay
more info
PubMed 
glycolipid binding IDA
Inferred from Direct Assay
more info
PubMed 
glycolipid transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
intermembrane lipid transfer activity IEA
Inferred from Electronic Annotation
more info
 
lipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-4-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ER to Golgi ceramide transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ER to Golgi ceramide transport IDA
Inferred from Direct Assay
more info
PubMed 
ceramide 1-phosphate transport IEA
Inferred from Electronic Annotation
more info
 
ceramide transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycolipid transport IEA
Inferred from Electronic Annotation
more info
 
intermembrane lipid transfer IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid transport IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
pleckstrin homology domain-containing family A member 8
Names
PH domain-containing family A member 8
phosphatidylinositol 4-phosphate adaptor protein-2
phosphatidylinositol-four-phosphate adapter protein 2
phosphoinositol 4-phosphate adapter protein 2
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8
serologically defined breast cancer antigen NY-BR-86

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001197026.2NP_001183955.1  pleckstrin homology domain-containing family A member 8 isoform 1

    See identical proteins and their annotated locations for NP_001183955.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC007285, AI954066, AK294857
    Consensus CDS
    CCDS56473.1
    UniProtKB/Swiss-Prot
    Q96JA3
    Related
    ENSP00000397947.1, ENST00000449726.5
    Conserved Domains (2) summary
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam08718
    Location:333470
    GLTP; Glycolipid transfer protein (GLTP)
  2. NM_001197027.1NP_001183956.1  pleckstrin homology domain-containing family A member 8 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 3' terminal exon, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC007285, AI168153, AK294857
    Consensus CDS
    CCDS75574.1
    UniProtKB/Swiss-Prot
    Q96JA3
    UniProtKB/TrEMBL
    A0A087X1S6
    Related
    ENSP00000484427.1, ENST00000622102.4
    Conserved Domains (3) summary
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:193
    PH; PH domain
    pfam08718
    Location:333454
    GLTP; Glycolipid transfer protein (GLTP)
  3. NM_001350973.1NP_001337902.1  pleckstrin homology domain-containing family A member 8 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC007036, AC007285
    Consensus CDS
    CCDS87489.1
    Related
    ENSP00000379556.2, ENST00000396257.6
    Conserved Domains (2) summary
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam08718
    Location:333455
    GLTP; Glycolipid transfer protein (GLTP)
  4. NM_001350974.1NP_001337903.1  pleckstrin homology domain-containing family A member 8 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC007036, AC007285
    Consensus CDS
    CCDS87490.1
    Related
    ENSP00000379558.1, ENST00000396259.5
    Conserved Domains (2) summary
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam08718
    Location:333428
    GLTP; Glycolipid transfer protein (GLTP)
  5. NM_001350975.1NP_001337904.1  pleckstrin homology domain-containing family A member 8 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC007036, AC007285
    Conserved Domains (1) summary
    pfam08718
    Location:134229
    GLTP; Glycolipid transfer protein (GLTP)
  6. NM_001363473.1NP_001350402.1  pleckstrin homology domain-containing family A member 8 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC007285
    Conserved Domains (2) summary
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam08718
    Location:333428
    GLTP; Glycolipid transfer protein (GLTP)
  7. NM_001363474.1NP_001350403.1  pleckstrin homology domain-containing family A member 8 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC007036, AC007285
    Conserved Domains (1) summary
    pfam08718
    Location:164259
    GLTP; Glycolipid transfer protein (GLTP)
  8. NM_032639.3NP_116028.1  pleckstrin homology domain-containing family A member 8 isoform 3

    See identical proteins and their annotated locations for NP_116028.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 3' coding region and contains an alternate 3' terminal exon, compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC007285, AK294857, BC002838
    Consensus CDS
    CCDS5424.1
    UniProtKB/Swiss-Prot
    Q96JA3
    Related
    ENSP00000258679.7, ENST00000258679.11
    Conserved Domains (3) summary
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:193
    PH; PH domain
    pfam08718
    Location:333428
    GLTP; Glycolipid transfer protein (GLTP)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    30028361..30130483
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249897.2XP_005249954.1  pleckstrin homology domain-containing family A member 8 isoform X3

    Conserved Domains (3) summary
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:193
    PH; PH domain
    pfam08718
    Location:333428
    GLTP; Glycolipid transfer protein (GLTP)
  2. XM_011515592.3XP_011513894.1  pleckstrin homology domain-containing family A member 8 isoform X2

    Conserved Domains (3) summary
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:193
    PH; PH domain
    pfam08718
    Location:333454
    GLTP; Glycolipid transfer protein (GLTP)
  3. XM_017012747.1XP_016868236.1  pleckstrin homology domain-containing family A member 8 isoform X6

  4. XM_017012746.1XP_016868235.1  pleckstrin homology domain-containing family A member 8 isoform X6

  5. XM_011515591.2XP_011513893.1  pleckstrin homology domain-containing family A member 8 isoform X1

    Conserved Domains (3) summary
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:193
    PH; PH domain
    pfam08718
    Location:333455
    GLTP; Glycolipid transfer protein (GLTP)
  6. XM_017012744.1XP_016868233.1  pleckstrin homology domain-containing family A member 8 isoform X1

    Conserved Domains (3) summary
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:193
    PH; PH domain
    pfam08718
    Location:333455
    GLTP; Glycolipid transfer protein (GLTP)
  7. XM_017012745.2XP_016868234.1  pleckstrin homology domain-containing family A member 8 isoform X4

    Conserved Domains (2) summary
    cd01247
    Location:1100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam08718
    Location:333428
    GLTP; Glycolipid transfer protein (GLTP)
  8. XM_017012748.1XP_016868237.1  pleckstrin homology domain-containing family A member 8 isoform X7

    Conserved Domains (1) summary
    pfam08718
    Location:164259
    GLTP; Glycolipid transfer protein (GLTP)
  9. XM_011515596.2XP_011513898.1  pleckstrin homology domain-containing family A member 8 isoform X5

    Conserved Domains (1) summary
    pfam08718
    Location:164301
    GLTP; Glycolipid transfer protein (GLTP)
Support Center