Aliases for FAM13A Gene

Aliases for FAM13A Gene

  • Family With Sequence Similarity 13 Member A 2 3 5
  • Family With Sequence Similarity 13, Member A1 2 3
  • Protein FAM13A 3 4
  • ARHGAP48 2 3
  • KIAA0914 2 4
  • FAM13A1 3 4
  • Family With Sequence Similarity 13, Member A 2
  • FAM13A1_v2 Protein 3
  • FAM13A 5

External Ids for FAM13A Gene

Previous HGNC Symbols for FAM13A Gene

  • FAM13A1

Previous GeneCards Identifiers for FAM13A Gene

  • GC04M089866
  • GC04M089647
  • GC04M085399

Summaries for FAM13A Gene

GeneCards Summary for FAM13A Gene

FAM13A (Family With Sequence Similarity 13 Member A) is a Protein Coding gene. Diseases associated with FAM13A include Pulmonary Fibrosis, Idiopathic and Bronchitis. Among its related pathways are Signaling by GPCR and Lung fibrosis. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is FAM13B.

Gene Wiki entry for FAM13A Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM13A Gene

Genomics for FAM13A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM13A 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
GH04J088818 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 267 +289.9 289859 6.4 TBP CEBPA NR2C1 MNT IKZF1 SMAD5 IRF2 HES1 MBD2 CTCF FAM13A TIGD2 lnc-NAP1L5-3 piR-31937-158 NAP1L5
GH04J089110 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.9 -932 3.9 TBP ZBTB10 SP1 MXD4 CEBPA MNT SMAD5 ETS1 ZFP64 ZNF217 TIGD2 ENSG00000270720 FAM13A lnc-TIGD2-2 HSALNG0035778 GPRIN3
GH04J089055 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 273.4 +55.0 54968 3.3 TBP SIX5 MNT IKZF1 SMAD5 ETS1 SIX4 BHLHE40 ARNT RAD51 FAM13A TIGD2 piR-31199-269 NAP1L5
GH04J089109 Enhancer 0.2 CraniofacialAtlas 250.7 +1.3 1348 0.4 ENSG00000270720 FAM13A TIGD2 lnc-TIGD2-2 piR-31199-269 NAP1L5
GH04J088997 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 15.1 +111.4 111383 5.5 FEZF1 CEBPA IKZF1 HOMEZ CEBPB ELK1 ZNF395 REST VEZF1 GABPA FAM13A FAM13A-AS1 TIGD2 NAP1L5 SNCA HSALNG0035775 lnc-NAP1L5-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM13A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM13A

Top Transcription factor binding sites by QIAGEN in the FAM13A gene promoter:
  • HNF-3beta
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • RORalpha1

Genomic Locations for FAM13A Gene

Latest Assembly
385,444 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
331,226 bases
Minus strand

(GRCh37/hg19 by Ensembl)
385,444 bases
Minus strand

Genomic View for FAM13A Gene

Genes around FAM13A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM13A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM13A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM13A Gene

Proteins for FAM13A Gene

  • Protein details for FAM13A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein FAM13A
    Protein Accession:
    Secondary Accessions:
    • B4DLC1
    • Q24JP0
    • Q5PR21
    • Q8NBA3

    Protein attributes for FAM13A Gene

    1023 amino acids
    Molecular mass:
    116932 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA74937.3; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAC03636.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM13A Gene


neXtProt entry for FAM13A Gene

Post-translational modifications for FAM13A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM13A Gene

Domains & Families for FAM13A Gene

Gene Families for FAM13A Gene

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

Protein Domains for FAM13A Gene

Suggested Antigen Peptide Sequences for FAM13A Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM13A (FA13A_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the FAM13 family.
  • Belongs to the FAM13 family.
genes like me logo Genes that share domains with FAM13A: view

Function for FAM13A Gene

Phenotypes From GWAS Catalog for FAM13A Gene

Gene Ontology (GO) - Molecular Function for FAM13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
genes like me logo Genes that share ontologies with FAM13A: view
genes like me logo Genes that share phenotypes with FAM13A: view

Human Phenotype Ontology for FAM13A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM13A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM13A Gene

Localization for FAM13A 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 FAM13A gene
Compartment Confidence
cytosol 5
nucleus 3
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with FAM13A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAM13A Gene

Pathways & Interactions for FAM13A Gene

genes like me logo Genes that share pathways with FAM13A: view

Pathways by source for FAM13A Gene

1 BioSystems pathway for FAM13A Gene
3 Reactome pathways for FAM13A Gene

SIGNOR curated interactions for FAM13A Gene


Gene Ontology (GO) - Biological Process for FAM13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with FAM13A: view

Drugs & Compounds for FAM13A Gene

No Compound Related Data Available

Transcripts for FAM13A Gene

mRNA/cDNA for FAM13A Gene

20 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 FAM13A

Alternative Splicing Database (ASD) splice patterns (SP) for FAM13A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c ^ 11a ·
SP1: - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - -
SP5: - - - - -
SP9: - - - - - - - - - - - - - - - - - - - -
SP10: - - - -
SP11: - -
SP12: - - -
SP13: -

ExUns: 11b ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b · 17c ^ 18a · 18b
SP1: - -
SP2: - -
SP3: - - - -
SP4: - - - -
SP6: - - - -
SP8: - -

Relevant External Links for FAM13A Gene

GeneLoc Exon Structure for

Expression for FAM13A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM13A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM13A Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (39.3) and Plasma (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM13A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM13A

SOURCE GeneReport for Unigene cluster for FAM13A Gene:


mRNA Expression by UniProt/SwissProt for FAM13A Gene:

Tissue specificity: Isoform 1 is widely expressed, with highest expression in skeletal muscle, thymus, brain and lung. Isoform 3 is less abundant than isoform 1 and predominantly expressed in kidney, pancreas, liver, lung and thymus.

Evidence on tissue expression from TISSUES for FAM13A Gene

  • Nervous system(4.9)
  • Intestine(4.4)
  • Spleen(4.3)
  • Lung(2.5)
  • Thyroid gland(2.1)
  • Liver(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM13A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • head
  • mouth
  • salivary gland
  • breast
  • bronchus
  • esophagus
  • heart
  • lung
  • trachea
  • kidney
  • liver
  • spleen
  • testicle
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with FAM13A: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for FAM13A Gene

Orthologs for FAM13A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM13A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAM13A1 30 31
  • 99.71 (n)
(Canis familiaris)
Mammalia FAM13A 30 31
  • 89.11 (n)
(Bos Taurus)
Mammalia FAM13A 31
  • 88 (a)
-- 31
  • 82 (a)
(Mus musculus)
Mammalia Fam13a 31
  • 83 (a)
(Monodelphis domestica)
Mammalia FAM13A 31
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 55 (a)
(Gallus gallus)
Aves FAM13A 30 31
  • 74.4 (n)
(Anolis carolinensis)
Reptilia FAM13A 31
  • 72 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam13a 30
  • 67.08 (n)
(Danio rerio)
Actinopterygii fam13a 30 31
  • 61.22 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG6424 31
  • 21 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 17 (a)
Species where no ortholog for FAM13A 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)
  • Rat (Rattus norvegicus)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for FAM13A Gene

Gene Tree for FAM13A (if available)
Gene Tree for FAM13A (if available)
Evolutionary constrained regions (ECRs) for FAM13A: view image

Paralogs for FAM13A Gene

Paralogs for FAM13A Gene

(24) SIMAP similar genes for FAM13A Gene using alignment to 9 proteins:

  • D6RD35_HUMAN
  • L0R4X6_HUMAN
  • Q6P521_HUMAN
genes like me logo Genes that share paralogs with FAM13A: view

Variants for FAM13A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM13A Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs147595342 Benign: not provided 88,731,430(-) T/TA
rs201019743 Likely Benign: not provided 88,851,190(-) G/A
rs60527761 Benign: not provided 89,020,506(-) A/G
NM_014883.4(FAM13A):c.381T>C (p.Ser127=)
rs74387785 Likely Benign: not provided 88,747,647(-) C/T
NM_014883.4(FAM13A):c.2366G>A (p.Arg789His)
rs767389467 Likely Benign: not provided 89,029,515(-) G/A
NM_014883.4(FAM13A):c.162C>T (p.Thr54=)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FAM13A 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 FAM13A Gene

Variant ID Type Subtype PubMed ID
dgv2851n106 CNV deletion 24896259
esv1010735 CNV deletion 20482838
esv1054095 CNV deletion 17803354
esv1378129 CNV deletion 17803354
esv1980466 CNV deletion 18987734
esv2589450 CNV deletion 19546169
esv2647176 CNV deletion 19546169
esv2660897 CNV deletion 23128226
esv2664903 CNV deletion 23128226
esv2669940 CNV deletion 23128226
esv2671485 CNV deletion 23128226
esv2727954 CNV deletion 23290073
esv2727955 CNV deletion 23290073
esv3054323 CNV deletion 24192839
esv3564218 CNV deletion 23714750
esv3564219 CNV deletion 23714750
esv3569577 CNV loss 25503493
esv3601309 CNV loss 21293372
esv3601310 CNV loss 21293372
esv3601312 CNV loss 21293372
nsv1009354 CNV loss 25217958
nsv1109622 CNV deletion 24896259
nsv1116537 OTHER inversion 24896259
nsv1129418 OTHER inversion 24896259
nsv1139282 CNV deletion 24896259
nsv4416 CNV insertion 18451855
nsv461576 CNV gain 19166990
nsv461577 CNV gain 19166990
nsv470051 CNV gain 18288195
nsv594806 CNV gain 21841781
nsv594807 CNV gain 21841781
nsv822638 CNV gain 20364138
nsv956361 CNV deletion 24416366

Variation tolerance for FAM13A Gene

Residual Variation Intolerance Score: 13.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.34; 63.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM13A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM13A Gene

Disorders for FAM13A Gene

MalaCards: The human disease database

(3) MalaCards diseases for FAM13A Gene - From: ORP, COP, and GCD

Disorder Aliases PubMed IDs
pulmonary fibrosis, idiopathic
  • ipf
  • acute bronchitis
pulmonary disease, chronic obstructive
  • copd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM13A

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FAM13A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM13A Gene

Publications for FAM13A Gene

  1. Regulation of nuclear-cytoplasmic shuttling and function of Family with sequence similarity 13, member A (Fam13a), by B56-containing PP2As and Akt. (PMID: 25609086) Jin Z … Yang J (Molecular biology of the cell 2015) 2 3
  2. A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. (PMID: 22080838) Cho MH … COPDGene Investigators (Human molecular genetics 2012) 3 41
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 41
  5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41

Products for FAM13A Gene

Sources for FAM13A Gene