Aliases for FAM102A Gene

Aliases for FAM102A Gene

  • Family With Sequence Similarity 102 Member A 2 3 5
  • Early Estrogen-Induced Gene 1 Protein 3 4
  • Protein FAM102A 3 4
  • BA203J24.7 2 3
  • C9orf132 3 4
  • SYM-3A 2 3
  • EEIG1 3 4
  • Family With Sequence Similarity 102, Member A 2
  • Chromosome 9 Open Reading Frame 132 2
  • Early Estrogen-Induced Gene 1 2
  • Sym-3 Homolog A (C. Elegans) 2
  • Sym-3 Homolog A 3
  • C230093N12Rik 3
  • FAM102A 5
  • Eeig1 2

External Ids for FAM102A Gene

Previous HGNC Symbols for FAM102A Gene

  • C9orf132

Previous GeneCards Identifiers for FAM102A Gene

  • GC09M127786
  • GC09M129742
  • GC09M130702
  • GC09M100319

Summaries for FAM102A Gene

GeneCards Summary for FAM102A Gene

FAM102A (Family With Sequence Similarity 102 Member A) is a Protein Coding gene. Diseases associated with FAM102A include Primary Angle-Closure Glaucoma and Immunodeficiency 38 With Basal Ganglia Calcification. An important paralog of this gene is FAM102B.

UniProtKB/Swiss-Prot Summary for FAM102A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM102A Gene

Genomics for FAM102A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM102A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM102A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM102A

Top Transcription factor binding sites by QIAGEN in the FAM102A gene promoter:
  • aMEF-2
  • C/EBPalpha
  • MEF-2
  • MEF-2A
  • Pax-4a

Genomic Locations for FAM102A Gene

Latest Assembly
40,408 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
40,408 bases
Minus strand

(GRCh37/hg19 by Ensembl)
39,935 bases
Minus strand

Genomic View for FAM102A Gene

Genes around FAM102A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM102A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM102A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM102A Gene

Proteins for FAM102A Gene

  • Protein details for FAM102A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein FAM102A
    Protein Accession:
    Secondary Accessions:
    • A2A329
    • Q8TEL4

    Protein attributes for FAM102A Gene

    384 amino acids
    Molecular mass:
    41785 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM102A Gene


neXtProt entry for FAM102A Gene

Post-translational modifications for FAM102A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM102A Gene

No data available for DME Specific Peptides for FAM102A Gene

Domains & Families for FAM102A Gene

Gene Families for FAM102A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM102A Gene


Suggested Antigen Peptide Sequences for FAM102A Gene

GenScript: Design optimal peptide antigens:
  • Early estrogen-induced gene 1 protein (F102A_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the FAM102 family.
  • Belongs to the FAM102 family.
genes like me logo Genes that share domains with FAM102A: view

Function for FAM102A Gene

Molecular function for FAM102A Gene

UniProtKB/Swiss-Prot Function:
May play a role in estrogen action.
UniProtKB/Swiss-Prot Induction:
By 17-beta-estradiol but also by a group of natural and synthetic estrogens as well as by estrogenic environmental compounds. Repressed by the antiestrogen 4-hydroxy-tamoxifen.

Phenotypes From GWAS Catalog for FAM102A Gene

Gene Ontology (GO) - Molecular Function for FAM102A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with FAM102A: view
genes like me logo Genes that share phenotypes with FAM102A: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM102A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM102A Gene

Localization for FAM102A Gene

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 FAM102A gene
Compartment Confidence
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM102A Gene

Pathways & Interactions for FAM102A Gene

PathCards logo

SuperPathways for FAM102A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM102A Gene


No data available for Pathways by source and SIGNOR curated interactions for FAM102A Gene

Drugs & Compounds for FAM102A Gene

No Compound Related Data Available

Transcripts for FAM102A Gene

mRNA/cDNA for FAM102A Gene

9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM102A

Alternative Splicing Database (ASD) splice patterns (SP) for FAM102A Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
SP3: - - -

Relevant External Links for FAM102A Gene

GeneLoc Exon Structure for

Expression for FAM102A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM102A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM102A Gene

This gene is overexpressed in Plasma (35.2), Pancreatic juice (14.8), and Peripheral blood mononuclear cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM102A Gene

Protein tissue co-expression partners for FAM102A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM102A

SOURCE GeneReport for Unigene cluster for FAM102A Gene:


Evidence on tissue expression from TISSUES for FAM102A Gene

  • Nervous system(3.6)
  • Pancreas(3)
genes like me logo Genes that share expression patterns with FAM102A: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM102A Gene

Orthologs for FAM102A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM102A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAM102A 29 30
  • 95.92 (n)
(Bos Taurus)
Mammalia FAM102A 29 30
  • 91.38 (n)
(Monodelphis domestica)
Mammalia FAM102A 30
  • 90 (a)
(Canis familiaris)
Mammalia FAM102A 29 30
  • 89.65 (n)
(Rattus norvegicus)
Mammalia Fam102a 29
  • 87.76 (n)
(Mus musculus)
Mammalia Fam102a 29 16 30
  • 87.07 (n)
(Ornithorhynchus anatinus)
Mammalia FAM102A 30
  • 87 (a)
(Gallus gallus)
Aves FAM102A 29 30
  • 76.7 (n)
(Anolis carolinensis)
Reptilia FAM102A 30
  • 73 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam102a 29
  • 72.71 (n)
(Danio rerio)
Actinopterygii fam102ab 29 30
  • 70.66 (n)
fam102aa 30
  • 58 (a)
Fruit Fly
(Drosophila melanogaster)
Insecta CG8671 30
  • 14 (a)
(Caenorhabditis elegans)
Secernentea sym-3 30
  • 25 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 34 (a)
-- 30
  • 33 (a)
Species where no ortholog for FAM102A 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)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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)

Evolution for FAM102A Gene

Gene Tree for FAM102A (if available)
Gene Tree for FAM102A (if available)
Evolutionary constrained regions (ECRs) for FAM102A: view image
Alliance of Genome Resources:
Additional Orthologs for FAM102A

Paralogs for FAM102A Gene

Paralogs for FAM102A Gene

(1) SIMAP similar genes for FAM102A Gene using alignment to 1 proteins:

  • F102A_HUMAN
genes like me logo Genes that share paralogs with FAM102A: view

Variants for FAM102A Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FAM102A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FAM102A Gene

Variant ID Type Subtype PubMed ID
esv2739056 CNV deletion 23290073
esv2739057 CNV deletion 23290073
esv5200 CNV loss 18987735
nsv1054891 CNV gain 25217958
nsv466577 CNV loss 19166990
nsv476947 CNV novel sequence insertion 20440878
nsv478648 CNV novel sequence insertion 20440878
nsv615381 CNV loss 21841781
nsv6722 CNV insertion 18451855
nsv831727 CNV loss 17160897
nsv951768 CNV deletion 24416366

Variation tolerance for FAM102A Gene

Residual Variation Intolerance Score: 14.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.27; 25.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM102A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM102A Gene

Disorders for FAM102A Gene

MalaCards: The human disease database

(4) MalaCards diseases for FAM102A Gene - From: COP and GCD

Disorder Aliases PubMed IDs
primary angle-closure glaucoma
  • primary angle closure glaucoma
immunodeficiency 38 with basal ganglia calcification
  • imd38
marshall syndrome
  • mrshs
stickler syndrome
  • arthroophthalmopathy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM102A

genes like me logo Genes that share disorders with FAM102A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM102A Gene

Publications for FAM102A Gene

  1. Identification of estrogen-responsive genes by complementary deoxyribonucleic acid microarray and characterization of a novel early estrogen-induced gene: EEIG1. (PMID: 14605097) Wang DY … Edwards EA (Molecular endocrinology (Baltimore, Md.) 2004) 3 4 22
  2. Early estrogen-induced gene 1, a novel RANK signaling component, is essential for osteoclastogenesis. (PMID: 23478294) Choi HK … Lee SY (Cell research 2013) 2 3
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. The RNA-mediated estrogen receptor α interactome of hormone-dependent human breast cancer cell nuclei. (PMID: 31527615) Nassa G … Weisz A (Scientific data 2019) 3

Products for FAM102A Gene

Sources for FAM102A Gene