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

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. Among its related pathways are Lung fibrosis and Signaling by GPCR. 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

Additional gene information for FAM13A Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM13A Gene

Genomics for FAM13A Gene

GeneHancer (GH) Regulatory Elements for FAM13A Gene

Promoters and enhancers for FAM13A 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
GH04I088818 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 567 +289.9 289859 6.4 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B SIN3A YY1 POLR2B FAM13A TIGD2 PIR43353 LOC105377327
GH04I089110 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -1.0 -1010 3.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF207 TIGD2 FAM13A ENSG00000270720 GC04P089101
GH04I089055 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 572.5 +54.6 54568 2.5 PKNOX1 ATF1 ARNT SIN3A YY1 POLR2B ARID2 ATF7 NCOA1 GTF2B FAM13A TIGD2 GC04P089101 GC04M088970
GH04I088997 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15.1 +111.4 111383 5.5 PKNOX1 ATF1 FOXA2 FEZF1 ELK1 ATF7 REST TSHZ1 ZNF592 MEF2D FAM13A FAM13A-AS1 TIGD2 NAP1L5 SNCA GC04M088970 GC04P089101
GH04I088808 Enhancer 0.9 ENCODE dbSUPER 16.5 +301.6 301550 2.8 SOX5 SOX13 GATAD2A FOXA2 RXRA FOXA3 MAX ZNF384 PPARG RARA FAM13A NAP1L5 TIGD2 PIR43353 LOC105377327
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM13A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM13A gene promoter:

Genomic Locations for FAM13A Gene

Genomic Locations for FAM13A Gene
chr4:88,725,954-89,111,398
(GRCh38/hg38)
Size:
385,445 bases
Orientation:
Minus strand
chr4:89,647,106-90,032,549
(GRCh37/hg19)

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:
    O94988-FA13A_HUMAN
    Recommended name:
    Protein FAM13A
    Protein Accession:
    O94988
    Secondary Accessions:
    • B4DLC1
    • Q24JP0
    • Q5PR21
    • Q8NBA3

    Protein attributes for FAM13A Gene

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

    Alternative splice isoforms for FAM13A Gene

    UniProtKB/Swiss-Prot:

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

HGNC:
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:

Graphical View of Domain Structure for InterPro Entry

O94988

UniProtKB/Swiss-Prot:

FA13A_HUMAN :
  • Belongs to the FAM13 family.
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 TAS --
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

Animal Model Products

Clone Products

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

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 FAM13A gene
Compartment Confidence
cytosol 5
nucleus 3
extracellular 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

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

No data available for SIGNOR curated interactions for FAM13A Gene

Drugs & Compounds for FAM13A Gene

No Compound Related Data Available

Transcripts for FAM13A Gene

Unigene Clusters for FAM13A Gene

Family with sequence similarity 13, member A:
Representative Sequences:

Clone Products

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: - - - - -
SP6:
SP7:
SP8:
SP9: - - - - - - - - - - - - - - - - - - - -
SP10: - - - -
SP11: - -
SP12: - - -
SP13: -
SP14:

ExUns: 11b ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b · 17c ^ 18a · 18b
SP1: - -
SP2: - -
SP3: - - - -
SP4: - - - -
SP5:
SP6: - - - -
SP7:
SP8: - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for FAM13A Gene

GeneLoc Exon Structure for
FAM13A
ECgene alternative splicing isoforms for
FAM13A

Expression for FAM13A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for FAM13A Gene



NURSA nuclear receptor signaling pathways regulating expression of FAM13A Gene:

FAM13A

SOURCE GeneReport for Unigene cluster for FAM13A Gene:

Hs.97270

mRNA Expression by UniProt/SwissProt for FAM13A Gene:

O94988-FA13A_HUMAN
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(4.3)
  • Spleen(4.2)
  • Lung(2.4)

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

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

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
chimpanzee
(Pan troglodytes)
Mammalia FAM13A1 33 34
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia FAM13A 33 34
  • 89.11 (n)
cow
(Bos Taurus)
Mammalia FAM13A 34
  • 88 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Fam13a 34
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM13A 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 55 (a)
ManyToMany
chicken
(Gallus gallus)
Aves FAM13A 33 34
  • 74.4 (n)
lizard
(Anolis carolinensis)
Reptilia FAM13A 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam13a 33
  • 67.08 (n)
zebrafish
(Danio rerio)
Actinopterygii fam13a 33 34
  • 61.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6424 34
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 17 (a)
OneToMany
Species where no ortholog for FAM13A 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)
  • 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 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

ENSEMBL:
Gene Tree for FAM13A (if available)
TreeFam:
Gene Tree for FAM13A (if available)

Paralogs for FAM13A Gene

Variants for FAM13A Gene

Sequence variations from dbSNP and Humsavar for FAM13A Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000003148 -- 88,861,754(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000008291 -- 88,855,584(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000013822 -- 88,940,426(-) T/C genic_upstream_transcript_variant, intron_variant
rs10000140 -- 89,026,903(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000024704 -- 89,032,905(-) T/C genic_upstream_transcript_variant, intron_variant

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
FAM13A

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

Disorders for FAM13A Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM13A Gene - From: Orphanet

Disorder Aliases PubMed IDs
pulmonary fibrosis, idiopathic
  • ipf
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM13A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 44 58
  3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58
  4. Genomewide association study of movement-related adverse antipsychotic effects. (PMID: 19875103) Aberg K … van den Oord EJ (Biological psychiatry 2010) 3 44 58
  5. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. (PMID: 20010835) Hancock DB … London SJ (Nature genetics 2010) 3 44 58

Products for FAM13A Gene

Sources for FAM13A Gene

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