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

Gene ID: 10826, updated on 2-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
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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 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)

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

  • 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

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