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    FAM30A family with sequence similarity 30 member A [ Homo sapiens (human) ]

    Gene ID: 9834, updated on 17-Sep-2024

    Summary

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    Official Symbol
    FAM30Aprovided by HGNC
    Official Full Name
    family with sequence similarity 30 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:19955
    See related
    Ensembl:ENSG00000226777 MIM:616623; AllianceGenome:HGNC:19955
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSPC053; KIAA0125; C14orf110
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    Genomic context

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    See FAM30A in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (105917979..105932642)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (100189047..100203713)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (106383838..106398502)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene immunoglobulin heavy locus Neighboring gene immunoglobulin heavy variable (II)-1-1 (pseudogene) Neighboring gene immunoglobulin heavy diversity 3-3 Neighboring gene immunoglobulin heavy diversity 2-2 Neighboring gene immunoglobulin heavy diversity 1-1 Neighboring gene immunoglobulin heavy variable 6-1

    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. The expression levels of long non-coding RNA KIAA0125 are associated with distinct clinical and biological features in myelodysplastic syndromes. Hung SY, et al. Br J Haematol, 2021 Feb. PMID 33249572
    2. Distinct clinical and biological characteristics of acute myeloid leukemia with higher expression of long noncoding RNA KIAA0125. Wang YH, et al. Ann Hematol, 2021 Feb. PMID 33225420, Free PMC Article
    3. lncRNA KIAA0125 functions as a tumor suppressor modulating growth and metastasis of colorectal cancer via Wnt/β-catenin pathway. Yang Y, et al. Cell Biol Int, 2019 Dec. PMID 31228314, Free PMC Article
    4. The long noncoding RNA KIAA0125 is upregulated in ameloblastomas. Diniz MG, et al. Pathol Res Pract, 2019 Mar. PMID 30595406
    5. Genetic factors in the pathogenesis of ameloblastoma, dentigerous cyst and odontogenic keratocyst. Ghafouri-Fard S, et al. Gene, 2021 Mar 1. PMID 33346102

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The expression levels of long non-coding RNA KIAA0125 are associated with distinct clinical and biological features in myelodysplastic syndromes.
      Title: The expression levels of long non-coding RNA KIAA0125 are associated with distinct clinical and biological features in myelodysplastic syndromes.
    2. Distinct clinical and biological characteristics of acute myeloid leukemia with higher expression of long noncoding RNA KIAA0125.
      Title: Distinct clinical and biological characteristics of acute myeloid leukemia with higher expression of long noncoding RNA KIAA0125.
    3. Genetic factors in the pathogenesis of ameloblastoma, dentigerous cyst and odontogenic keratocyst.
      Title: Genetic factors in the pathogenesis of ameloblastoma, dentigerous cyst and odontogenic keratocyst.
    4. In an analysis of an independent validation cohort, KIAA0125 again showed a significant influence with respect to the impact of the RUNX1/RUNX1T1 fusion in mediation of acute myeloid leukemia.
      Title: Mediation analysis reveals common mechanisms of RUNX1 point mutations and RUNX1/RUNX1T1 fusions influencing survival of patients with acute myeloid leukemia.
    5. The lncRNA KIAA0125 is likely involved in the ameloblastoma pathobiology
      Title: The long noncoding RNA KIAA0125 is upregulated in ameloblastomas.
    Submit: New GeneRIF Correction

    Phenotypes

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    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)

    General gene information

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    Markers

    Clone Names

    • MGC22719, MGC39943, MGC176731

    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.

    Genomic

    1. NG_001019.6 

      Range
      947703..962366 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. NR_026800.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC246787, AK125627, BC152473
      Related
      ENST00000630242.2

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      105917979..105932642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187600.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      385748..400411
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      100189047..100203713
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014151.1: Suppressed sequence

      Description
      NM_014151.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.

    2. NM_014792.2: Suppressed sequence

      Description
      NM_014792.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NZY2.2 GenPept UniProtKB/Swiss-Prot:Q9NZY2

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