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

    Gene ID: 10826, updated on 27-Nov-2024

    Summary

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    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, Nov 2024]
    Expression
    Ubiquitous expression in liver (RPKM 20.9), ovary (RPKM 19.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    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

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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. Novel function of FAXDC2 in megakaryopoiesis. Jin Q, et al. Blood Cancer J, 2016 Sep 30. PMID 27689744, Free PMC Article
    2. Transcription mapping of the 5q- syndrome critical region: cloning of two novel genes and sequencing, expression, and mapping of a further six novel cDNAs. Boultwood J, et al. Genomics, 2000 May 15. PMID 10843801
    3. Study of FOXO1-interacting proteins using TurboID-based proximity labeling technology. Su Y, et al. BMC Genomics, 2023 Mar 24. PMID 36964488, Free PMC Article
    4. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
    5. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    Preferred Names
    fatty acid hydroxylase domain-containing protein 2

    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_032385.5 → NP_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:175 → 299
      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_006714753.3 → XP_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:175 → 299
      FA_hydroxylase; Fatty acid hydroxylase superfamily

    2. XM_047416652.1 → XP_047272608.1  fatty acid hydroxylase domain-containing protein 2 isoform X2

    3. XM_047416654.1 → XP_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_054351480.1 → XP_054207455.1  fatty acid hydroxylase domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      B4DIE1, Q96IV6, Q9BSX6, Q9H8C7

    2. XM_054351481.1 → XP_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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96IV6.1 GenPept UniProtKB/Swiss-Prot:Q96IV6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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