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Aliases for FAM69A Gene

Aliases for FAM69A Gene

  • Family With Sequence Similarity 69 Member A 2 3 5
  • Family With Sequence Similarity 69, Member A 2
  • Protein FAM69A 3

External Ids for FAM69A Gene

Previous GeneCards Identifiers for FAM69A Gene

  • GC01M093021
  • GC01M093071
  • GC01M093307
  • GC01M091428

Summaries for FAM69A Gene

Entrez Gene Summary for FAM69A Gene

  • This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

GeneCards Summary for FAM69A Gene

FAM69A (Family With Sequence Similarity 69 Member A) is a Protein Coding gene. Diseases associated with FAM69A include Diamond-Blackfan Anemia. An important paralog of this gene is FAM69B.

Additional gene information for FAM69A Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM69A Gene

Genomics for FAM69A Gene

GeneHancer (GH) Regulatory Elements for FAM69A Gene

Promoters and enhancers for FAM69A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J092959 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 664.1 0.0 -32 4.1 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 ZNF143 KLF13 FAM69A EVI5 GC01P092961 DR1 MTF2 GC01M092970
GH01J092482 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 28.8 +476.6 476637 5.3 HDGF ARID4B SIN3A DMAP1 ZNF2 ZNF213 ZNF207 ZNF143 KLF13 SP3 GFI1 FAM69A CCDC18-AS1 SNORA66 MTF2 SNORD21 EVI5 GLMN RPL5 CCDC18
GH01J092934 Enhancer 1.1 Ensembl ENCODE dbSUPER 38 +26.7 26657 0.8 MEIS2 INSM2 MZF1 ZNF2 ZNF664 ZNF316 ZNF366 POLR2A ZSCAN5C SCRT2 FAM69A EVI5 LOC100127934 GC01P092939
GH01J092503 Enhancer 1.1 ENCODE dbSUPER 28.9 +456.5 456452 2.6 FOXA2 YY1 RUNX3 RXRA SP5 REST NFIL3 MIER3 ETV4 KDM1A FAM69A EVI5 GC01P092511 GFI1
GH01J092029 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 15.7 +930.9 930929 2 HDGF ARNT GLI4 ZNF2 YY1 GLIS2 ZNF213 KLF13 ZNF518A ZNF610 EPHX4 FAM69A KIAA1107 SNORA66 GC01P092039
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM69A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM69A gene promoter:
  • FOXF2
  • Evi-1
  • POU3F2 (N-Oct-5b)
  • POU3F2 (N-Oct-5a)
  • POU3F2
  • Egr-2
  • N-Myc
  • Tal-1
  • E47
  • Pax-5

Genomic Locations for FAM69A Gene

Genomic Locations for FAM69A Gene
128,794 bases
Minus strand
119,359 bases
Minus strand

Genomic View for FAM69A Gene

Genes around FAM69A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM69A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM69A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM69A Gene

Proteins for FAM69A Gene

  • Protein details for FAM69A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein FAM69A
    Protein Accession:
    Secondary Accessions:
    • Q6IRV2

    Protein attributes for FAM69A Gene

    428 amino acids
    Molecular mass:
    49024 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM69A Gene


neXtProt entry for FAM69A Gene

Post-translational modifications for FAM69A Gene

  • Among the many cysteines in the lumenal domain, most are probably involved in disulfide bonds.
  • Glycosylation at Thr141
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FAM69A Gene

Domains & Families for FAM69A Gene

Gene Families for FAM69A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FAM69A Gene


Suggested Antigen Peptide Sequences for FAM69A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the FAM69 family.
  • Belongs to the FAM69 family.
genes like me logo Genes that share domains with FAM69A: view

Function for FAM69A Gene

Phenotypes From GWAS Catalog for FAM69A Gene

genes like me logo Genes that share phenotypes with FAM69A: view

Animal Models for FAM69A Gene

MGI Knock Outs for FAM69A:
  • Fam69a Fam69a<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM69A

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAM69A Gene

Localization for FAM69A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM69A Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAM69A gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 3
golgi apparatus 2
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM69A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FAM69A: view

Pathways & Interactions for FAM69A Gene

SuperPathways for FAM69A Gene

No Data Available

Interacting Proteins for FAM69A Gene

Gene Ontology (GO) - Biological Process for FAM69A Gene


No data available for Pathways by source and SIGNOR curated interactions for FAM69A Gene

Drugs & Compounds for FAM69A Gene

No Compound Related Data Available

Transcripts for FAM69A Gene

Unigene Clusters for FAM69A Gene

Family with sequence similarity 69, member A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM69A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM69A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP2: -

Relevant External Links for FAM69A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAM69A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM69A Gene

Protein differential expression in normal tissues from HIPED for FAM69A Gene

This gene is overexpressed in Heart (33.1), Placenta (29.8), and Platelet (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM69A Gene

Protein tissue co-expression partners for FAM69A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM69A Gene:


SOURCE GeneReport for Unigene cluster for FAM69A Gene:


Evidence on tissue expression from TISSUES for FAM69A Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with FAM69A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM69A Gene

Orthologs for FAM69A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM69A Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MGC143035 34
  • 100 (a)
FAM69A 33
  • 95.17 (n)
(Pan troglodytes)
Mammalia FAM69A 34 33
  • 99.92 (n)
(Canis familiaris)
Mammalia FAM69A 34 33
  • 95.17 (n)
(Ornithorhynchus anatinus)
Mammalia FAM69A 34
  • 92 (a)
(Mus musculus)
Mammalia Fam69a 16 34 33
  • 91.36 (n)
(Rattus norvegicus)
Mammalia Fam69a 33
  • 89.25 (n)
(Monodelphis domestica)
Mammalia FAM69A 34
  • 81 (a)
(Gallus gallus)
Aves FAM69A 34 33
  • 80.74 (n)
(Anolis carolinensis)
Reptilia FAM69A 34
  • 87 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fam69a 33
  • 72.05 (n)
(Danio rerio)
Actinopterygii fam69a 34 33
  • 62.85 (n)
FAM69A (1 of 2) 34
  • 60 (a)
Species where no ortholog for FAM69A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)

Evolution for FAM69A Gene

Gene Tree for FAM69A (if available)
Gene Tree for FAM69A (if available)
Evolutionary constrained regions (ECRs) for FAM69A: view image

Paralogs for FAM69A Gene

Paralogs for FAM69A Gene

(1) SIMAP similar genes for FAM69A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FAM69A: view

Variants for FAM69A Gene

Sequence variations from dbSNP and Humsavar for FAM69A Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1060503527 pathogenic, Diamond-Blackfan anemia 92,833,603(-) C/G genic_downstream_transcript_variant, intron_variant
rs1060503545 uncertain-significance, Diamond-Blackfan anemia 92,841,839(-) G/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs10874744 benign, Diamond-Blackfan anemia 92,840,760(-) G/A genic_downstream_transcript_variant, intron_variant
rs113792800 conflicting-interpretations-of-pathogenicity, benign, Diamond-Blackfan anemia, not specified 92,834,847(-) T/C genic_downstream_transcript_variant, intron_variant
rs11540832 conflicting-interpretations-of-pathogenicity, likely-benign, Diamond-Blackfan anemia, not specified, not provided 92,837,557(-) A/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM69A Gene

Variant ID Type Subtype PubMed ID
esv2714684 CNV deletion 23290073
esv2714873 CNV deletion 23290073
esv3586822 CNV loss 21293372
nsv1008602 CNV gain 25217958
nsv1137783 CNV deletion 24896259
nsv506946 OTHER sequence alteration 20534489
nsv508393 CNV deletion 20534489
nsv946076 CNV duplication 23825009
nsv946077 CNV duplication 23825009
nsv946078 CNV duplication 23825009
nsv946079 CNV duplication 23825009

Variation tolerance for FAM69A Gene

Gene Damage Index Score: 1.34; 26.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM69A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM69A Gene

Disorders for FAM69A Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM69A Gene - From: GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia
  • diamond-blackfan anemia 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM69A

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FAM69A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM69A Gene

Publications for FAM69A Gene

  1. A novel predicted calcium-regulated kinase family implicated in neurological disorders. (PMID: 23840464) Dudkiewicz M … Pawłowski K (PloS one 2013) 2 3 58
  2. Characterisation of the FAM69 family of cysteine-rich endoplasmic reticulum proteins. (PMID: 21334309) Tennant-Eyles AJ … Roberts RG (Biochemical and biophysical research communications 2011) 2 3 58
  3. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. (PMID: 20889312) Wang KS … Aragam N (Schizophrenia research 2010) 3 44 58
  4. Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis. (PMID: 20087403) Alcina A … Matesanz F (European journal of human genetics : EJHG 2010) 3 44 58
  5. Risk alleles for multiple sclerosis in multiplex families. (PMID: 19506219) D'Netto MJ … Ebers GC (Neurology 2009) 3 44 58

Products for FAM69A Gene

Sources for FAM69A Gene

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