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

Gene ID: 84725, updated on 4-Jan-2025

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; 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, Jan 2025]
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

See PLEKHA8 in Genome Data Viewer
Location:
7p14.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (30028412..30130483)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (30166094..30268134)
RS_2024_09 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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

General gene information

Clone Names

  • MGC3358, DKFZp313M1034, DKFZp686J09164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ceramide 1-phosphate binding  
enables ceramide 1-phosphate transfer activity  
enables ceramide binding PubMed 
enables glycolipid binding PubMed 
enables glycolipid transfer activity PubMed 
enables phosphatidylinositol-4-phosphate binding PubMed 
enables protein binding PubMed 
Process Evidence Code Pubs
involved_in ER to Golgi ceramide transport PubMed 
involved_in ceramide 1-phosphate transport  
involved_in ceramide transport  
involved_in glycolipid transport  
involved_in intermembrane lipid transfer  
involved_in lipid transport PubMed 
involved_in protein transport  
Component Evidence Code Pubs
located_in Golgi apparatus  
located_in Golgi membrane  
is_active_in cytosol  
located_in nucleoplasm  
located_in trans-Golgi network 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)

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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_001197026.2NP_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
    B4DH00, Q7Z5V8, Q96JA3, Q9BU78, Q9H274, Q9H8Z7
    UniProtKB/TrEMBL
    A0A2P1JJM6
    Related
    ENSP00000397947.1, ENST00000449726.6
    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_001197027.2NP_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: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_001350973.2NP_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_001350974.2NP_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: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_001350975.2NP_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_032639.4NP_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: GCF_000001405.40-RS_2024_08

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_005249897.3XP_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_011515592.4XP_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_017012744.2XP_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)
  4. XM_011515596.3XP_011513898.1  pleckstrin homology domain-containing family A member 8 isoform X4

    UniProtKB/Swiss-Prot
    O95397
    Conserved Domains (1) summary
    pfam08718
    Location:164301
    GLTP; Glycolipid transfer protein (GLTP)
  5. XM_017012746.2XP_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_054359273.1XP_054215248.1  pleckstrin homology domain-containing family A member 8 isoform X3

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

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

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

    UniProtKB/Swiss-Prot
    O95397
  5. XM_054359275.1XP_054215250.1  pleckstrin homology domain-containing family A member 8 isoform X5

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