This gene encodes a cytokine-like protein. The expression of this gene may be regulated by peroxisome proliferator-activated receptor gamma, and the encoded protein may be involved in the regulation of glucose and lipid metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] See more...

Aliases for FAM3A Gene

Aliases for FAM3A Gene

  • FAM3 Metabolism Regulating Signaling Molecule A 2 3 5
  • Family With Sequence Similarity 3 Member A 2 3
  • Cytokine-Like Protein 2-19 3 4
  • Protein FAM3A 3 4
  • DXS560S 2 3
  • XAP-7 2 3
  • 2.19 3 4
  • 2-19 2 4
  • FAM3A 5
  • DLD 3

External Ids for FAM3A Gene

Previous GeneCards Identifiers for FAM3A Gene

  • GC0XM147792
  • GC0XM150115
  • GC0XM151320
  • GC0XM152202
  • GC0XM153298
  • GC0XM153387
  • GC0XM153734
  • GC0XM142310

Summaries for FAM3A Gene

Entrez Gene Summary for FAM3A Gene

  • This gene encodes a cytokine-like protein. The expression of this gene may be regulated by peroxisome proliferator-activated receptor gamma, and the encoded protein may be involved in the regulation of glucose and lipid metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for FAM3A Gene

FAM3A (FAM3 Metabolism Regulating Signaling Molecule A) is a Protein Coding gene. Diseases associated with FAM3A include Deafness, Autosomal Recessive 17 and Ritscher-Schinzel Syndrome 2. An important paralog of this gene is FAM3D.

UniProtKB/Swiss-Prot Summary for FAM3A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM3A Gene

Genomics for FAM3A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM3A 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 FAM3A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM3A

Top Transcription factor binding sites by QIAGEN in the FAM3A gene promoter:
  • HNF-4alpha1
  • HNF-4alpha2
  • p53
  • RelA
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for FAM3A Gene

Latest Assembly
chrX:154,506,159-154,516,257
(GRCh38/hg38)
Size:
10,099 bases
Orientation:
Minus strand

Previous Assembly
chrX:153,734,502-153,744,556
(GRCh37/hg19 by Entrez Gene)
Size:
10,055 bases
Orientation:
Minus strand

chrX:153,733,350-153,744,566
(GRCh37/hg19 by Ensembl)
Size:
11,217 bases
Orientation:
Minus strand

Genomic View for FAM3A Gene

Genes around FAM3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM3A Gene

Proteins for FAM3A Gene

  • Protein details for FAM3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98173-FAM3A_HUMAN
    Recommended name:
    Protein FAM3A
    Protein Accession:
    P98173
    Secondary Accessions:
    • A6QRH6
    • B2RBI7
    • B4DFI8
    • D3DWX4
    • Q5HY76
    • Q96H51

    Protein attributes for FAM3A Gene

    Size:
    230 amino acids
    Molecular mass:
    25152 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM3A Gene

Post-translational modifications for FAM3A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM3A Gene

Domains & Families for FAM3A Gene

Gene Families for FAM3A Gene

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

Protein Domains for FAM3A Gene

Suggested Antigen Peptide Sequences for FAM3A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57027, highly similar to Protein FAM3A (B4DFI8_HUMAN)
  • Family with sequence similarity 3, member A, isoform CRA_c (D3DWX8_HUMAN)
  • Cytokine-like protein 2-19 (FAM3A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P98173

UniProtKB/Swiss-Prot:

FAM3A_HUMAN :
  • Belongs to the FAM3 family.
Family:
  • Belongs to the FAM3 family.
genes like me logo Genes that share domains with FAM3A: view

Function for FAM3A Gene

Molecular function for FAM3A Gene

UniProtKB/Swiss-Prot Function:
May act as a defensin against invading fungal microorganisms.

Phenotypes From GWAS Catalog for FAM3A Gene

Gene Ontology (GO) - Molecular Function for FAM3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with FAM3A: view
genes like me logo Genes that share phenotypes with FAM3A: view

Animal Models for research

  • Taconic Biosciences Mouse Models for FAM3A

miRNA for FAM3A Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM3A

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM3A Gene

Localization for FAM3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM3A Gene

Secreted.

Subcellular locations from

COMPARTMENTS
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 FAM3A gene
Compartment Confidence
extracellular 4
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitotic chromosome (2)
  • Nucleoli rim (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FAM3A: view

Pathways & Interactions for FAM3A Gene

PathCards logo

SuperPathways for FAM3A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019732 antifungal humoral response IDA 18212107
GO:0045721 negative regulation of gluconeogenesis IEA --
GO:0046890 regulation of lipid biosynthetic process IEA --
GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide IDA 18212107
GO:1905035 negative regulation of antifungal innate immune response IDA 18212107
genes like me logo Genes that share ontologies with FAM3A: view

No data available for Pathways by source and SIGNOR curated interactions for FAM3A Gene

Drugs & Compounds for FAM3A Gene

No Compound Related Data Available

Transcripts for FAM3A Gene

mRNA/cDNA for FAM3A Gene

7 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
22 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 FAM3A

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for FAM3A Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c
SP1: - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - - -
SP5:
SP6: -
SP7: -
SP8:

Relevant External Links for FAM3A Gene

GeneLoc Exon Structure for
FAM3A

Expression for FAM3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM3A Gene

This gene is overexpressed in Nasal epithelium (59.3) and Bone (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM3A Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM3A

SOURCE GeneReport for Unigene cluster for FAM3A Gene:

Hs.289108

mRNA Expression by UniProt/SwissProt for FAM3A Gene:

P98173-FAM3A_HUMAN
Tissue specificity: In similar amounts in testis, pancreas, adrenal, placenta, brain, fetal brain, liver, kidney, skeletal muscle and heart.

Evidence on tissue expression from TISSUES for FAM3A Gene

  • Nervous system(4.8)
  • Pancreas(4.6)
  • Intestine(4.3)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with FAM3A: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM3A Gene

Orthologs for FAM3A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM3A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM3A 29 30
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM3A 29 30
  • 89.23 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam3a 29
  • 87.37 (n)
Cow
(Bos Taurus)
Mammalia FAM3A 29 30
  • 86.99 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam3a 29 16 30
  • 86.32 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM3A 30
  • 84 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FAM3A 30
  • 77 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM3A 30
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam3a 29
  • 68.29 (n)
Str.6172 29
African clawed frog
(Xenopus laevis)
Amphibia fam3a-prov 29
Zebrafish
(Danio rerio)
Actinopterygii fam3a 29 30
  • 66.07 (n)
OneToOne
zgc73350 29
Worm
(Caenorhabditis elegans)
Secernentea Y73B3A.3 30
  • 7 (a)
ManyToMany
M70.4 30
  • 7 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.67 30
  • 28 (a)
OneToMany
Species where no ortholog for FAM3A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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 FAM3A Gene

ENSEMBL:
Gene Tree for FAM3A (if available)
TreeFam:
Gene Tree for FAM3A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM3A: view image
Alliance of Genome Resources:
Additional Orthologs for FAM3A

Paralogs for FAM3A Gene

Paralogs for FAM3A Gene

genes like me logo Genes that share paralogs with FAM3A: view

Variants for FAM3A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM3A Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs149966237 Benign: not provided 154,507,483(-) G/A
NM_021806.4(FAM3A):c.393C>T (p.Asn131=)
SYNONYMOUS
rs200836674 Benign: not provided 154,506,862(-) G/A
NM_021806.4(FAM3A):c.642C>T (p.Pro214=)
SYNONYMOUS
rs1050788 -- p.Trp213Cys
rs35985994 -- p.Ile21Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FAM3A 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 FAM3A Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV gain+loss 17666407
esv33784 CNV gain+loss 17666407
nsv508816 CNV insertion 20534489
nsv519042 CNV gain 19592680

Variation tolerance for FAM3A Gene

Residual Variation Intolerance Score: 28.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.34; 7.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM3A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM3A
Leiden Open Variation Database (LOVD)
FAM3A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM3A Gene

Disorders for FAM3A Gene

MalaCards: The human disease database

(2) MalaCards diseases for FAM3A Gene - From: COP

Disorder Aliases PubMed IDs
deafness, autosomal recessive 17
  • dfnb17
ritscher-schinzel syndrome 2
  • rtsc2
- elite association - COSMIC cancer census association via MalaCards
Search FAM3A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FAM3A

genes like me logo Genes that share disorders with FAM3A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM3A Gene

Publications for FAM3A Gene

  1. Cloning, expression, and initial characterization of a novel cytokine-like gene family. (PMID: 12160727) Zhu Y … Young PR (Genomics 2002) 3 4 22
  2. FAM3A attenuates ER stress-induced mitochondrial dysfunction and apoptosis via CHOP-Wnt pathway. (PMID: 26939760) Song Q … Zhang R (Neurochemistry international 2016) 2 3
  3. Transcriptional regulation analysis of FAM3A gene and its effect on adipocyte differentiation. (PMID: 27688071) Kang T … Lei M (Gene 2016) 2 3
  4. FAM3A Protects HT22 Cells Against Hydrogen Peroxide-Induced Oxidative Stress Through Activation of PI3K/Akt but not MEK/ERK Pathway. (PMID: 26492522) Song Q … Zhang R (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2015) 2 3
  5. GG: a domain involved in phage LTF apparatus and implicated in human MEB and non-syndromic hearing loss diseases. (PMID: 16406369) Guo J … Yu L (FEBS letters 2006) 3 22

Products for FAM3A Gene

Sources for FAM3A Gene