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Aliases for FAM13B Gene

Aliases for FAM13B Gene

  • Family With Sequence Similarity 13 Member B 2 3 5
  • Family With Sequence Similarity 13, Member B1 2 3
  • GAP-Like Protein N61 3 4
  • FAM13B1 3 4
  • C5orf5 3 4
  • Family With Sequence Similarity 13, Member B 2
  • Chromosome 5 Open Reading Frame 5 2
  • Protein FAM13B 3
  • ARHGAP49 3
  • KHCHP 3
  • N61 3

External Ids for FAM13B Gene

Previous HGNC Symbols for FAM13B Gene

  • C5orf5
  • FAM13B1

Previous GeneCards Identifiers for FAM13B Gene

  • GC05M137303
  • GC05M132465
  • GC05M137273

Summaries for FAM13B Gene

GeneCards Summary for FAM13B Gene

FAM13B (Family With Sequence Similarity 13 Member B) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is FAM13A.

Additional gene information for FAM13B Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM13B Gene

Genomics for FAM13B Gene

GeneHancer (GH) Regulatory Elements for FAM13B Gene

Promoters and enhancers for FAM13B 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
GH05I138027 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 554.9 +20.7 20663 6.8 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 ZNF207 LOC100130172 FAM13B RNU6-1148P NME5 WNT8A RNU6-888P MYOT LOC101928005 GC05P137995
GH05I138463 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.8 -413.3 -413288 4.1 CLOCK IRF4 YY1 E2F8 ZNF143 SP3 SSRP1 ZNF610 ZNF585B GLIS1 EGR1 HNRNPA0 CDC23 KDM3B BRD8 RPL7P19 ETF1 FAM13B FAM53C REEP2
GH05I138350 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.1 -301.4 -301374 4.7 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 IRF4 YY1 SLC30A9 KDM3B CDC23 BRD8 HNRNPA0 FAM53C MATR3 KLHL3 RPL7P19 FAM13B KIF20A
GH05I137751 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.5 +298.5 298529 4.6 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC HNRNPA0 KDM3B CDC23 RPL7P19 FAM13B NME5 PKD2L2 GC05M137746 GC05P137725
GH05I137833 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +215.7 215745 5.9 PKNOX1 CLOCK FOXA2 NEUROD1 SIN3A FEZF1 ATF7 FOS KLF13 SP3 CDC23 KDM3B MYOT FAM13B BRD8 HNRNPA0 RNU6-1148P KLHL3 PKD2L2 GC05M137818
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM13B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM13B gene promoter:

Genomic Locations for FAM13B Gene

Genomic Locations for FAM13B Gene
chr5:137,937,949-138,051,961
(GRCh38/hg38)
Size:
114,013 bases
Orientation:
Minus strand
chr5:137,273,638-137,387,650
(GRCh37/hg19)

Genomic View for FAM13B Gene

Genes around FAM13B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM13B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM13B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM13B Gene

Proteins for FAM13B Gene

  • Protein details for FAM13B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYF5-FA13B_HUMAN
    Recommended name:
    Protein FAM13B
    Protein Accession:
    Q9NYF5
    Secondary Accessions:
    • D3DQB5
    • G3V0H9
    • Q3ZCR0
    • Q6PGQ2
    • Q9P0I7

    Protein attributes for FAM13B Gene

    Size:
    915 amino acids
    Molecular mass:
    104543 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF67482.1; Type=Frameshift; Positions=734; Evidence={ECO:0000305}; Sequence=AAF67482.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM13B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM13B Gene

Post-translational modifications for FAM13B Gene

No Post-translational modifications

No data available for DME Specific Peptides for FAM13B Gene

Domains & Families for FAM13B Gene

Gene Families for FAM13B Gene

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

Protein Domains for FAM13B Gene

Suggested Antigen Peptide Sequences for FAM13B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NYF5

UniProtKB/Swiss-Prot:

FA13B_HUMAN :
  • Belongs to the FAM13 family.
Family:
  • Belongs to the FAM13 family.
genes like me logo Genes that share domains with FAM13B: view

Function for FAM13B Gene

Phenotypes From GWAS Catalog for FAM13B Gene

Gene Ontology (GO) - Molecular Function for FAM13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS --
genes like me logo Genes that share ontologies with FAM13B: view
genes like me logo Genes that share phenotypes with FAM13B: view

Animal Models for FAM13B Gene

MGI Knock Outs for FAM13B:

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAM13B Gene

Localization for FAM13B 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 FAM13B gene
Compartment Confidence
cytosol 5
nucleus 3
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAM13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with FAM13B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAM13B Gene

Pathways & Interactions for FAM13B Gene

genes like me logo Genes that share pathways with FAM13B: view

Pathways by source for FAM13B Gene

3 Reactome pathways for FAM13B Gene

Gene Ontology (GO) - Biological Process for FAM13B 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 FAM13B: view

No data available for SIGNOR curated interactions for FAM13B Gene

Drugs & Compounds for FAM13B Gene

No Compound Related Data Available

Transcripts for FAM13B Gene

Unigene Clusters for FAM13B Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM13B Gene

No ASD Table

Relevant External Links for FAM13B Gene

GeneLoc Exon Structure for
FAM13B
ECgene alternative splicing isoforms for
FAM13B

Expression for FAM13B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM13B Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FAM13B Gene



NURSA nuclear receptor signaling pathways regulating expression of FAM13B Gene:

FAM13B

SOURCE GeneReport for Unigene cluster for FAM13B Gene:

Hs.567453

Evidence on tissue expression from TISSUES for FAM13B Gene

  • Adrenal gland(4.2)
  • Skin(4.2)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with FAM13B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM13B Gene

Orthologs for FAM13B Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM13B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM13B 33 34
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia FAM13B 33 34
  • 94.61 (n)
cow
(Bos Taurus)
Mammalia FAM13B 33 34
  • 93.71 (n)
rat
(Rattus norvegicus)
Mammalia Fam13b 33
  • 88.61 (n)
mouse
(Mus musculus)
Mammalia Fam13b 33 16 34
  • 88.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 86 (a)
OneToMany
-- 34
  • 80 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia FAM13B 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM13B 34
  • 81 (a)
OneToOne
C5ORF5 33
  • 79.67 (n)
lizard
(Anolis carolinensis)
Reptilia FAM13B 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam13b 33
  • 69.2 (n)
Str.13371 33
zebrafish
(Danio rerio)
Actinopterygii fam13b 34
  • 55 (a)
OneToOne
Dr.6589 33
fruit fly
(Drosophila melanogaster)
Insecta CG6424 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 15 (a)
OneToMany
Species where no ortholog for FAM13B 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)
  • 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 FAM13B Gene

ENSEMBL:
Gene Tree for FAM13B (if available)
TreeFam:
Gene Tree for FAM13B (if available)

Paralogs for FAM13B Gene

Paralogs for FAM13B Gene

(6) SIMAP similar genes for FAM13B Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with FAM13B: view

Variants for FAM13B Gene

Sequence variations from dbSNP and Humsavar for FAM13B Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000008103 -- 138,019,541(-) T/C intron_variant
rs1000018354 -- 137,955,068(-) A/G intron_variant
rs1000023307 -- 138,009,069(-) G/A intron_variant
rs1000035237 -- 138,040,749(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000079290 -- 137,961,674(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM13B Gene

Variant ID Type Subtype PubMed ID
nsv830502 CNV gain 17160897
nsv830501 CNV gain 17160897
nsv477949 CNV novel sequence insertion 20440878
nsv1141501 CNV duplication 24896259
esv3606916 CNV loss 21293372
esv3606915 CNV gain 21293372
esv3606913 CNV gain 21293372
esv2730817 CNV deletion 23290073

Variation tolerance for FAM13B Gene

Residual Variation Intolerance Score: 6.12% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.63; 56.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM13B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM13B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM13B Gene

Disorders for FAM13B Gene

Additional Disease Information for FAM13B

No disorders were found for FAM13B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM13B Gene

Publications for FAM13B Gene

  1. cDNA cloning and genomic structure of three genes localized to human chromosome band 5q31 encoding potential nuclear proteins. (PMID: 11087669) Lai F … Le Beau MM (Genomics 2000) 2 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Transcript map and comparative analysis of the 1.5-Mb commonly deleted segment of human 5q31 in malignant myeloid diseases with a del(5q). (PMID: 11161817) Lai F … Le Beau MM (Genomics 2001) 2 3 58
  4. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu RM … Chen JL (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 58
  5. The eukaryotic elongation factor eEF1A1 interacts with SAMHD1. (PMID: 25423367) Morrissey C … Webb M (The Biochemical journal 2015) 3 58

Products for FAM13B Gene

Sources for FAM13B Gene

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