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Aliases for FAM13A Gene

Aliases for FAM13A Gene

  • Family With Sequence Similarity 13, Member A 2 3
  • FAM13A1 3 4 6
  • Family With Sequence Similarity 13, Member A1 2 3
  • KIAA0914 4 6
  • FAM13A1_v2 Protein 3
  • Protein FAM13A 3
  • ARHGAP48 3

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 Signaling by GPCR and Rho GTPase cycle. 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 , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM13A Gene

Genomics for FAM13A Gene

Regulatory Elements for FAM13A Gene

Genomic Location for FAM13A Gene

Start:
88,725,954 bp from pter
End:
89,111,398 bp from pter
Size:
385,445 bases
Orientation:
Minus strand

Genomic View for FAM13A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for FAM13A Gene at MOPED

Post-translational modifications for FAM13A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for FAM13A Gene

Domains for FAM13A Gene

Gene Families for FAM13A Gene

HGNC:
  • ARHGAP :Rho GTPase activating 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 :
  • O94988
Domain:
  • Contains 1 Rho-GAP domain.
Family:
  • Belongs to the FAM13 family.
genes like me logo Genes that share domains with FAM13A: view

Function 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

Animal Model Products

CRISPR Products

miRNA for FAM13A Gene

miRTarBase miRNAs that target FAM13A

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FAM13A

In Situ Assay Products

Flow Cytometry Products

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

Localization for FAM13A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM13A Gene COMPARTMENTS Subcellular localization image for FAM13A gene
Compartment Confidence
cytosol 4
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FAM13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
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 for FAM13A Gene

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

Pathways by source for FAM13A Gene

3 Reactome pathways for FAM13A Gene

Interacting Proteins for FAM13A Gene

Gene Ontology (GO) - Biological Process for FAM13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction --
GO:0007264 small GTPase mediated signal transduction TAS --
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

Transcripts for FAM13A Gene

Unigene Clusters for FAM13A Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FAM13A

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry 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 for FAM13A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for FAM13A Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FAM13A Gene

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.
genes like me logo Genes that share expressions with FAM13A: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and 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
dog
(Canis familiaris)
Mammalia FAM13A 35
  • 89.11 (n)
  • 88.36 (a)
FAM13A 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAM13A1 35
  • 99.71 (n)
  • 99.71 (a)
FAM13A1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam13a 16
Fam13a 36
  • 83 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 82 (a)
OneToMany
FAM13A 36
  • 88 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia FAM13A 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 55 (a)
ManyToMany
chicken
(Gallus gallus)
Aves FAM13A 35
  • 74.4 (n)
  • 77.2 (a)
FAM13A 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM13A 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam13a 35
  • 67.08 (n)
  • 68.08 (a)
zebrafish
(Danio rerio)
Actinopterygii fam13a 35
  • 61.22 (n)
  • 58.45 (a)
fam13a 36
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6424 36
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 17 (a)
OneToMany
Species with no ortholog for FAM13A:
  • 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

Paralogs for FAM13A Gene

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

Variants for FAM13A Gene

Sequence variations from dbSNP and Humsavar for FAM13A Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs732880 -- 88,808,120(-) GAAAA(G/T)AGAAA intron-variant
rs732881 -- 88,808,084(-) TATTT(A/G)CCCTC intron-variant
rs747983 -- 88,754,335(-) ATTTC(C/T)GTTAT intron-variant
rs756175 -- 89,077,890(+) GTAAT(A/G)ACTAA intron-variant
rs756176 -- 89,078,257(+) ATCAA(C/T)ATAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM13A Gene

Variant ID Type Subtype PubMed ID
nsv461576 CNV Gain 19166990
nsv470051 CNV Gain 18288195
esv2589450 CNV Deletion 19546169
esv2660897 CNV Deletion 23128226
esv1980466 CNV Deletion 18987734
esv2727954 CNV Deletion 23290073
esv1010735 CNV Deletion 20482838
esv1378129 CNV Deletion 17803354
esv2647176 CNV Deletion 19546169
nsv4416 CNV Insertion 18451855
esv2669940 CNV Deletion 23128226
esv2664903 CNV Deletion 23128226
dgv5642n71 CNV Loss 21882294
esv2671485 CNV Deletion 23128226
esv2727955 CNV Deletion 23290073
esv1054095 CNV Deletion 17803354
nsv461577 CNV Gain 19166990
esv270228 CNV Insertion 20981092
esv274118 CNV Insertion 20981092
nsv822638 CNV Gain 20364138

Relevant External Links for FAM13A Gene

HapMap Linkage Disequilibrium report
FAM13A

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

Disorders for FAM13A Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for FAM13A Gene in MalaCards »

(1) Diseases for FAM13A Gene including...

(1) University of Copenhagen DISEASES for FAM13A Gene

Relevant External Links for FAM13A

Genetic Association Database (GAD)
FAM13A
Human Genome Epidemiology (HuGE) Navigator
FAM13A
genes like me logo Genes that share disorders with FAM13A: view

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for FAM13A Gene

Publications for FAM13A Gene

  1. A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. (PMID: 22080838) Cho M.H. … . (Hum. Mol. Genet. 2012) 3 48
  2. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PMID: 19724895) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2009) 3 48
  3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M. … Yamada Y. (Am. J. Hypertens. 2010) 3 48
  4. Genomewide association study of movement-related adverse antipsychotic effects. (PMID: 19875103) Aberg K. … van den Oord E.J. (Biol. Psychiatry 2010) 3 48
  5. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. (PMID: 20010835) Hancock D.B. … London S.J. (Nat. Genet. 2010) 3 48

Products for FAM13A Gene

Sources for FAM13A Gene

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