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

Gene ID: 84725, updated on 3-Apr-2024

Summary

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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; AllianceGenome:HGNC:30037
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
Summary
Enables several functions, including ceramide binding activity; glycolipid transfer activity; and phosphatidylinositol-4-phosphate binding activity. Involved in ER to Golgi ceramide transport. Located in nucleoplasm and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in placenta (RPKM 2.2), testis (RPKM 1.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
7p14.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (30028412..30130483)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (30166094..30268134)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (30068028..30170099)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:29968955-29969454 Neighboring gene secernin 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:30000281-30001070 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18052 Neighboring gene FKBP14 antisense RNA 1 Neighboring gene FKBP prolyl isomerase 14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25804 Neighboring gene NANOG hESC enhancer GRCh37_chr7:30120436-30120962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25805 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:30150426-30150612 Neighboring gene uncharacterized LOC105375216 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:30174520-30174897 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18055 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30188905-30189404 Neighboring gene maturin, neural progenitor differentiation regulator homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18058 Neighboring gene ribosomal protein S27 pseudogene 16

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Downregulation of FAPP2 gene induces cell autophagy and inhibits PI3K/AKT/mTOR pathway in T-cell acute lymphoblastic leukemia. Yuan T, et al. Hematol Oncol, 2022 Apr. PMID 34796518
  2. FAPP2 Accelerates the Proliferation and Invasion of Hepatocellular Carcinoma Cells via Wnt/β-Catenin Signaling. Kong L, et al. J Environ Pathol Toxicol Oncol, 2020. PMID 33389903
  3. Phosphatidylinositol 4-phosphate adaptor protein 2 accelerates the proliferation and invasion of hepatocellular carcinoma cells by enhancing Wnt/β-catenin signaling. Fan W, et al. J Bioenerg Biomembr, 2020 Oct. PMID 32914361
  4. FAPP2 promotes tumor cell growth in human colon cancer through activation of Wnt signaling. Chen J, et al. Exp Cell Res, 2019 Jan 1. PMID 30408464
  5. Modulation of hepatitis C virus genome replication by glycosphingolipids and four-phosphate adaptor protein 2. Khan I, et al. J Virol, 2014 Nov. PMID 25122779, Free PMC Article

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Downregulation of FAPP2 gene induces cell autophagy and inhibits PI3K/AKT/mTOR pathway in T-cell acute lymphoblastic leukemia.
    Title: Downregulation of FAPP2 gene induces cell autophagy and inhibits PI3K/AKT/mTOR pathway in T-cell acute lymphoblastic leukemia.
  2. Phosphatidylinositol 4-phosphate adaptor protein 2 accelerates the proliferation and invasion of hepatocellular carcinoma cells by enhancing Wnt/beta-catenin signaling.
    Title: Phosphatidylinositol 4-phosphate adaptor protein 2 accelerates the proliferation and invasion of hepatocellular carcinoma cells by enhancing Wnt/β-catenin signaling.
  3. miR-98 is involved in missed abortion by targeting GDF6 and FAPP2.
    Title: miR-98 is involved in missed abortion by targeting GDF6 and FAPP2.
  4. FAPP2 Accelerates the Proliferation and Invasion of Hepatocellular Carcinoma Cells via Wnt/beta-Catenin Signaling.
    Title: FAPP2 Accelerates the Proliferation and Invasion of Hepatocellular Carcinoma Cells via Wnt/β-Catenin Signaling.
  5. FAPP2 could act as an oncogene in the regulation of tumor growth and may provide a new therapeutic target for human colon cancer.
    Title: FAPP2 promotes tumor cell growth in human colon cancer through activation of Wnt signaling.
  6. Four bulky, conserved hydrophobic residues involved in "sensor-like" interactions with lipid chains in protein hydrophobic pockets and FF motifs in GLTP and FAPP2.
    Title: Structural analyses of 4-phosphate adaptor protein 2 yield mechanistic insights into sphingolipid recognition by the glycolipid transfer protein family.
  7. Altogether, this study implies that hepatitis C virus coopts FAPP2 for virus genome replication via phosphatidylinositol 4-phosphate binding and glycosphingolipid transport to the hepatitis C virus replication complex.
    Title: Modulation of hepatitis C virus genome replication by glycosphingolipids and four-phosphate adaptor protein 2.
  8. FAPP2 functions in both membrane trafficking and lipid metabolism in a fashion that integrates its activities in membrane trafficking and in lipid transfer. (Review)
    Title: Connecting vesicular transport with lipid synthesis: FAPP2.
  9. Data show that FAPP2 is present in tubules forming from the trans-Golgi in epithelial MDCK cells.
    Title: Golgi protein FAPP2 tubulates membranes.
  10. Data demonstrate FAPP2 is required for cilium formation in polarized MDCK cells.
    Title: FAPP2, cilium formation, and compartmentalization of the apical membrane in polarized Madin-Darby canine kidney (MDCK) cells.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC3358, DKFZp313M1034, DKFZp686J09164

Gene Ontology Provided by GOA

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

General protein information

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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)

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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_001197026.2 → NP_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
    B4DH00, Q7Z5V8, Q96JA3, Q9BU78, Q9H274, Q9H8Z7
    UniProtKB/TrEMBL
    A0A2P1JJM6
    Related
    ENSP00000397947.1, ENST00000449726.6
    Conserved Domains (2) summary
    cd01247
    Location:1 → 100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam08718
    Location:333 → 470
    GLTP; Glycolipid transfer protein (GLTP)

  2. NM_001197027.2 → NP_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)
    AC007036, AC007285, AI168153, AK294857
    Consensus CDS
    CCDS75574.1
    UniProtKB/TrEMBL
    A0A087X1S6
    Related
    ENSP00000484427.1, ENST00000622102.4
    Conserved Domains (3) summary
    cd01247
    Location:1 → 100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:1 → 93
    PH; PH domain
    pfam08718
    Location:333 → 454
    GLTP; Glycolipid transfer protein (GLTP)

  3. NM_001350973.2 → NP_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:1 → 100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam08718
    Location:333 → 455
    GLTP; Glycolipid transfer protein (GLTP)

  4. NM_001350974.2 → NP_001337903.1  pleckstrin homology domain-containing family A member 8 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC007036, AC007285
    Consensus CDS
    CCDS87490.1
    UniProtKB/TrEMBL
    B5MDU3
    Related
    ENSP00000379558.1, ENST00000396259.5
    Conserved Domains (2) summary
    cd01247
    Location:1 → 100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam08718
    Location:333 → 428
    GLTP; Glycolipid transfer protein (GLTP)

  5. NM_001350975.2 → NP_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:134 → 229
    GLTP; Glycolipid transfer protein (GLTP)

  6. NM_001363473.1 → NP_001350402.1  pleckstrin homology domain-containing family A member 8 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC007285
    Conserved Domains (2) summary
    cd01247
    Location:1 → 100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam08718
    Location:333 → 428
    GLTP; Glycolipid transfer protein (GLTP)

  7. NM_001363474.1 → NP_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:164 → 259
    GLTP; Glycolipid transfer protein (GLTP)

  8. NM_032639.4 → NP_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:1 → 100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:1 → 93
    PH; PH domain
    pfam08718
    Location:333 → 428
    GLTP; Glycolipid transfer protein (GLTP)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    30028412..30130483
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249897.3 → XP_005249954.1  pleckstrin homology domain-containing family A member 8 isoform X3

    Conserved Domains (3) summary
    cd01247
    Location:1 → 100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:1 → 93
    PH; PH domain
    pfam08718
    Location:333 → 428
    GLTP; Glycolipid transfer protein (GLTP)

  2. XM_011515592.4 → XP_011513894.1  pleckstrin homology domain-containing family A member 8 isoform X2

    Conserved Domains (3) summary
    cd01247
    Location:1 → 100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:1 → 93
    PH; PH domain
    pfam08718
    Location:333 → 454
    GLTP; Glycolipid transfer protein (GLTP)

  3. XM_017012744.2 → XP_016868233.1  pleckstrin homology domain-containing family A member 8 isoform X1

    Conserved Domains (3) summary
    cd01247
    Location:1 → 100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:1 → 93
    PH; PH domain
    pfam08718
    Location:333 → 455
    GLTP; Glycolipid transfer protein (GLTP)

  4. XM_011515596.3 → XP_011513898.1  pleckstrin homology domain-containing family A member 8 isoform X4

    UniProtKB/Swiss-Prot
    O95397
    Conserved Domains (1) summary
    pfam08718
    Location:164 → 301
    GLTP; Glycolipid transfer protein (GLTP)

  5. XM_017012746.2 → XP_016868235.1  pleckstrin homology domain-containing family A member 8 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    30166094..30268134
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359273.1 → XP_054215248.1  pleckstrin homology domain-containing family A member 8 isoform X3

  2. XM_054359272.1 → XP_054215247.1  pleckstrin homology domain-containing family A member 8 isoform X2

  3. XM_054359271.1 → XP_054215246.1  pleckstrin homology domain-containing family A member 8 isoform X1

  4. XM_054359274.1 → XP_054215249.1  pleckstrin homology domain-containing family A member 8 isoform X4

  5. XM_054359275.1 → XP_054215250.1  pleckstrin homology domain-containing family A member 8 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96JA3.3 GenPept UniProtKB/Swiss-Prot:Q96JA3

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