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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 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)

Genotypes

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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