Aliases for FAM230A Gene

Subcategory (RNA class) for FAM230A Gene

lncRNA

Aliases for FAM230A Gene

  • Family With Sequence Similarity 230 Member A 2 3 5
  • FAM230A 2 5
  • DGCR15 2 3
  • Family With Sequence Similarity 230, Member A 2

External Ids for FAM230A Gene

Previous GeneCards Identifiers for FAM230A Gene

  • GC22P020694
  • GC22P018486

Summaries for FAM230A Gene

GeneCards Summary for FAM230A Gene

FAM230A (Family With Sequence Similarity 230 Member A) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with FAM230A include Retinitis Pigmentosa 43 and Hyperprolinemia, Type I. An important paralog of this gene is LOC101927859.

Additional gene information for FAM230A Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM230A Gene

Genomics for FAM230A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM230A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J018421 Promoter 0.3 Ensembl 600.7 +0.5 516 1.4 FAM230A ENSG00000277017 FAM247B USP18
GH22J018430 Enhancer 0.2 Ensembl 0.4 +9.5 9473 0.7 FAM230A ENSG00000277017 FAM247B USP18
GH22J018483 Enhancer 0.2 Ensembl 0.2 +63.1 63116 0.6 ENSG00000277017 FAM247B FAM230A USP18
GH22J018495 Enhancer 0.2 Ensembl 0.2 +74.4 74417 0.4 piR-39858-424 FAM247B FAM230A USP18
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM230A on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for FAM230A Gene

Genomic Locations for FAM230A Gene
chr22:18,421,384-18,500,594
(GRCh38/hg38)
Size:
79,211 bases
Orientation:
Plus strand
chr22:20,692,438-20,716,938
(GRCh37/hg19)
Size:
24,501 bases
Orientation:
Plus strand

Genomic View for FAM230A Gene

Genes around FAM230A on UCSC Golden Path with GeneCards custom track
FAM230A in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Cytogenetic band:
FAM230A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM230A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM230A Gene

Proteins for FAM230A Gene

  • Protein details for FAM230A Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    K4HVA1-K4HVA1_HUMAN
    Recommended name:
    FAM230A
    Protein Accession:
    K4HVA1

    Protein attributes for FAM230A Gene

    Size:
    316 amino acids
    Molecular mass:
    33909 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM230A Gene

Post-translational modifications for FAM230A Gene

No Post-translational modifications

No data available for DME Specific Peptides for FAM230A Gene

Domains & Families for FAM230A Gene

Gene Families for FAM230A Gene

Protein Domains for FAM230A Gene

ProtoNet:
genes like me logo Genes that share domains with FAM230A: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FAM230A Gene

Function for FAM230A Gene

Phenotypes for FAM230A Gene

genes like me logo Genes that share phenotypes with FAM230A: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FAM230A Gene

Localization for FAM230A Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for FAM230A Gene

Pathways & Interactions for FAM230A Gene

PathCards logo

SuperPathways for FAM230A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM230A Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for FAM230A Gene

Drugs & Compounds for FAM230A Gene

No Compound Related Data Available

Transcripts for FAM230A Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for FAM230A Gene

RNAcentral Transcript ID Subcategory Length (nts) # of Sources Source Identifiers and Annotations
URS0000DBA62F_9606 lncRNA 3186 2

RefSeq: NR_136560,

Ensembl: ENST00000624459 (view in UCSC) ,

URS0001980E33_9606 lncRNA 3202 1

RefSeq: NR_165629,

URS0000A7765D_9606 lncRNA 2923 1

HGNC: 45045,

URS0000DBA31E_9606 lncRNA 714 1

Ensembl: ENST00000624001 (view in UCSC) ,

URS0000DB6CA1_9606 lncRNA 315 1

Ensembl: ENST00000615181 (view in UCSC) ,

FAM230A in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Alternative Splicing Database (ASD) splice patterns (SP) for FAM230A Gene

No ASD Table

Relevant External Links for FAM230A Gene

GeneLoc Exon Structure for
FAM230A

No data available for mRNA/cDNA for FAM230A Gene

Expression for FAM230A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM230A Gene

mRNA differential expression in normal tissues according to GTEx for FAM230A Gene

This gene is overexpressed in Testis (x52.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM230A

genes like me logo Genes that share expression patterns with FAM230A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM230A Gene

Orthologs for FAM230A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM230A Gene

Organism Taxonomy Gene Similarity Type Details
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101732313 30
Species where no ortholog for FAM230A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for FAM230A Gene

ENSEMBL:
Gene Tree for FAM230A (if available)
TreeFam:
Gene Tree for FAM230A (if available)

Paralogs for FAM230A Gene

Paralogs for FAM230A Gene

genes like me logo Genes that share paralogs with FAM230A: view

Variants for FAM230A Gene

Additional dbSNP identifiers (rs#s) for FAM230A Gene

Variation tolerance for FAM230A Gene

Gene Damage Index Score: 38.14; 99.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM230A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM230A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for FAM230A Gene

Disorders for FAM230A Gene

MalaCards: The human disease database

(3) MalaCards diseases for FAM230A Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 43
  • rp43
hyperprolinemia, type i
  • hyrpro1
digeorge syndrome
  • cayler cardiofacial syndrome
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with FAM230A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM230A Gene

Publications for FAM230A Gene

  1. A family of long intergenic non-coding RNA genes in human chromosomal region 22q11.2 carry a DNA translocation breakpoint/AT-rich sequence. (PMID: 29668722) Delihas N (PloS one 2018) 2 3
  2. Formation of a Family of Long Intergenic Noncoding RNA Genes with an Embedded Translocation Breakpoint Motif in Human Chromosomal Low Copy Repeats of 22q11.2-Some Surprises and Questions. (PMID: 30036931) Delihas N (Non-coding RNA 2018) 3

Products for FAM230A Gene

Sources for FAM230A Gene