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    FAXDC2 fatty acid hydroxylase domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 10826, updated on 28-Oct-2024

    Summary

    Official Symbol
    FAXDC2provided by HGNC
    Official Full Name
    fatty acid hydroxylase domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:1334
    See related
    Ensembl:ENSG00000170271 MIM:619853; AllianceGenome:HGNC:1334
    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
    C5orf4
    Summary
    Predicted to enable C-4 methylsterol oxidase activity. Involved in positive regulation of megakaryocyte differentiation and positive regulation of protein phosphorylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in liver (RPKM 20.9), ovary (RPKM 19.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See FAXDC2 in Genome Data Viewer
    Location:
    5q33.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (154818492..154850603, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (155352455..155384565, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (154198052..154230163, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene La ribonucleoprotein 1, translational regulator Neighboring gene ribosomal protein L21 pseudogene 57 Neighboring gene uncharacterized LOC112267936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16553 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:154155175-154155753 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:154161545-154162171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23487 Neighboring gene Sharpr-MPRA regulatory region 2591 Neighboring gene microRNA 378h Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:154236981-154237482 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:154237483-154237986 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:154237987-154238489 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:154238993-154239495 Neighboring gene CCR4-NOT transcription complex subunit 8 Neighboring gene uncharacterized LOC124901119

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ13758

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables C-4 methylsterol oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of megakaryocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sterol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    fatty acid hydroxylase domain-containing protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_032385.5NP_115761.2  fatty acid hydroxylase domain-containing protein 2

      See identical proteins and their annotated locations for NP_115761.2

      Status: VALIDATED

      Source sequence(s)
      BC007216
      Consensus CDS
      CCDS43390.1
      UniProtKB/Swiss-Prot
      B4DIE1, Q96IV6, Q9BSX6, Q9H8C7
      Related
      ENSP00000320604.5, ENST00000326080.10
      Conserved Domains (1) summary
      pfam04116
      Location:175299
      FA_hydroxylase; Fatty acid hydroxylase superfamily

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      154818492..154850603 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006714753.3XP_006714816.1  fatty acid hydroxylase domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006714816.1

      UniProtKB/Swiss-Prot
      B4DIE1, Q96IV6, Q9BSX6, Q9H8C7
      Conserved Domains (1) summary
      pfam04116
      Location:175299
      FA_hydroxylase; Fatty acid hydroxylase superfamily
    2. XM_047416652.1XP_047272608.1  fatty acid hydroxylase domain-containing protein 2 isoform X2

    3. XM_047416654.1XP_047272610.1  fatty acid hydroxylase domain-containing protein 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      155352455..155384565 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351480.1XP_054207455.1  fatty acid hydroxylase domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B4DIE1, Q96IV6, Q9BSX6, Q9H8C7
    2. XM_054351481.1XP_054207456.1  fatty acid hydroxylase domain-containing protein 2 isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_016348.1: Suppressed sequence

      Description
      NM_016348.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.