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Aliases for FAM50A Gene

Aliases for FAM50A Gene

  • Family With Sequence Similarity 50 Member A 2 3 5
  • Protein XAP-5 3 4
  • DXS9928E 3 4
  • HXC26 3 4
  • XAP5 3 4
  • DNA Segment On Chromosome X (Unique) 9928 Expressed Sequence 2
  • Family With Sequence Similarity 50, Member A 2
  • Protein FAM50A 3
  • Protein HXC-26 4
  • HXC-26 3
  • 9F 3

External Ids for FAM50A Gene

Previous GeneCards Identifiers for FAM50A Gene

  • GC0XP153236
  • GC0XP153325
  • GC0XP153672
  • GC0XP142251

Summaries for FAM50A Gene

Entrez Gene Summary for FAM50A Gene

  • This gene belongs to the FAM50 family. The encoded protein is highly conserved in length and sequence across different species. It is a basic protein containing a nuclear localization signal, and may function as a DNA-binding protein or a transcriptional factor. [provided by RefSeq, Sep 2009]

GeneCards Summary for FAM50A Gene

FAM50A (Family With Sequence Similarity 50 Member A) is a Protein Coding gene. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is FAM50B.

UniProtKB/Swiss-Prot for FAM50A Gene

  • May be a DNA-binding protein or transcriptional factor.

Gene Wiki entry for FAM50A Gene

Additional gene information for FAM50A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM50A Gene

Genomics for FAM50A Gene

Regulatory Elements for FAM50A Gene

Enhancers for FAM50A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH154346 1.2 Ensembl ENCODE dbSUPER 18.3 -94.6 -94641 6.6 BCOR GTF2F1 ESRRA KLF1 NFIB HIC1 POLR2A ZNF600 PRDM10 SMARCA5 PLXNA3 FAM50A FAM3A GC0XM154351 GC0XM154352 LOC105373386
GH0XH154483 1 ENCODE 21.8 +41.7 41709 3.8 PKNOX1 ATF1 ARNT SIN3A ZBTB7B ZNF766 GLIS2 ELK1 FOS ATF7 FAM3A FAM50A GDI1 CH17-340M24.3 ATP6AP1 GC0XM154482 UBL4A
GH0XH154426 1 ENCODE 21.3 -14.6 -14614 5.4 PKNOX1 ATF1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF121 GLIS2 ATF7 FAM50A FAM3A SNORA70 HCFC1 SNORA56 PLXNA3 DKC1 ATP6AP1 GC0XP154438 GC0XP154437
GH0XH154396 1.4 ENCODE dbSUPER 14.8 -44.6 -44647 6.2 HNRNPUL1 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B PLXNA3 HCFC1 DKC1 FLNA EMD SNORA70 SNORA56 DNASE1L1 SLC10A3 FAM50A
GH0XH154443 0.9 ENCODE 22.5 +0.1 101 2.3 HDGF RB1 ARNT SIN3A GLIS2 ATF7 CREM USF2 ZNF398 ZNF592 FAM50A LAGE3 UBL4A RPL10 MIR6858
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM50A on UCSC Golden Path with GeneCards custom track

Promoters for FAM50A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000249675 374 1401 HDGF CTCF TFAP4 MXI1 KLF1 RB1 ARNT BACH1 SIN3A ZIC2

Genomic Locations for FAM50A Gene

Genomic Locations for FAM50A Gene
chrX:154,444,126-154,450,654
(GRCh38/hg38)
Size:
6,529 bases
Orientation:
Plus strand
chrX:153,672,473-153,679,002
(GRCh37/hg19)

Genomic View for FAM50A Gene

Genes around FAM50A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM50A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM50A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM50A Gene

Proteins for FAM50A Gene

  • Protein details for FAM50A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14320-FA50A_HUMAN
    Recommended name:
    Protein FAM50A
    Protein Accession:
    Q14320
    Secondary Accessions:
    • A8KAQ4
    • B2R997
    • Q5HY37
    • Q6PJH5

    Protein attributes for FAM50A Gene

    Size:
    339 amino acids
    Molecular mass:
    40242 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM50A Gene

Post-translational modifications for FAM50A Gene

  • Ubiquitination at posLast=271271 and isoforms=305
  • Modification sites at PhosphoSitePlus

Other Protein References for FAM50A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM50A Gene

Domains & Families for FAM50A Gene

Gene Families for FAM50A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM50A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM50A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14320

UniProtKB/Swiss-Prot:

FA50A_HUMAN :
  • Belongs to the FAM50 family.
Family:
  • Belongs to the FAM50 family.
genes like me logo Genes that share domains with FAM50A: view

Function for FAM50A Gene

Molecular function for FAM50A Gene

UniProtKB/Swiss-Prot Function:
May be a DNA-binding protein or transcriptional factor.

Phenotypes From GWAS Catalog for FAM50A Gene

Gene Ontology (GO) - Molecular Function for FAM50A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22681889
genes like me logo Genes that share ontologies with FAM50A: view
genes like me logo Genes that share phenotypes with FAM50A: view

Animal Model Products

CRISPR Products

miRNA for FAM50A Gene

miRTarBase miRNAs that target FAM50A

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM50A Gene

Localization for FAM50A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM50A 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 FAM50A gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAM50A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,NAS 9339379
genes like me logo Genes that share ontologies with FAM50A: view

Pathways & Interactions for FAM50A Gene

SuperPathways for FAM50A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM50A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis NAS 10534398
genes like me logo Genes that share ontologies with FAM50A: view

No data available for Pathways by source and SIGNOR curated interactions for FAM50A Gene

Drugs & Compounds for FAM50A Gene

No Compound Related Data Available

Transcripts for FAM50A Gene

Unigene Clusters for FAM50A Gene

Family with sequence similarity 50, member A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM50A Gene

No ASD Table

Relevant External Links for FAM50A Gene

GeneLoc Exon Structure for
FAM50A
ECgene alternative splicing isoforms for
FAM50A

Expression for FAM50A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM50A Gene

Protein differential expression in normal tissues from HIPED for FAM50A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.7), Bone marrow stromal cell (8.5), and Spleen (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FAM50A Gene



Protein tissue co-expression partners for FAM50A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM50A Gene:

FAM50A

SOURCE GeneReport for Unigene cluster for FAM50A Gene:

Hs.54277

mRNA Expression by UniProt/SwissProt for FAM50A Gene:

Q14320-FA50A_HUMAN
Tissue specificity: Expressed in all tissues examined. Mostly abundant in fetal brain, liver and kidney; in the adult, high levels were also observed in heart, skeletal muscle, spleen, thymus, prostate and small intestine.

Evidence on tissue expression from TISSUES for FAM50A Gene

  • Muscle(4.4)
  • Intestine(4.3)
  • Skin(2.5)
  • Nervous system(2.4)
  • Lung(2.3)
genes like me logo Genes that share expression patterns with FAM50A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM50A Gene

Orthologs for FAM50A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FAM50A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM50A 33 34
  • 99.12 (n)
dog
(Canis familiaris)
Mammalia FAM50A 33 34
  • 91.54 (n)
cow
(Bos Taurus)
Mammalia FAM50A 33 34
  • 90.66 (n)
mouse
(Mus musculus)
Mammalia Fam50a 33 16 34
  • 88.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM50A 34
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM50A 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10920 33
African clawed frog
(Xenopus laevis)
Amphibia mgdb03h09-prov 33
zebrafish
(Danio rerio)
Actinopterygii fam50a 34
  • 86 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG12259 33 34
  • 70.34 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta FAM50_ANOGA 33
  • 66.86 (n)
worm
(Caenorhabditis elegans)
Secernentea C47E8.4 34
  • 45 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons XCT 33
  • 55.14 (n)
soybean
(Glycine max)
eudicotyledons Gma.8107 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9535 33
rice
(Oryza sativa)
Liliopsida Os09g0535300 33
  • 55.62 (n)
Os.11434 33
barley
(Hordeum vulgare)
Liliopsida Hv.6934 33
wheat
(Triticum aestivum)
Liliopsida Ta.26958 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3121 34
  • 64 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4681 33
Species where no ortholog for FAM50A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for FAM50A Gene

ENSEMBL:
Gene Tree for FAM50A (if available)
TreeFam:
Gene Tree for FAM50A (if available)

Paralogs for FAM50A Gene

Paralogs for FAM50A Gene

(1) SIMAP similar genes for FAM50A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with FAM50A: view

Variants for FAM50A Gene

Sequence variations from dbSNP and Humsavar for FAM50A Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs121434609 Pathogenic 154,442,596(+) CAAAC(C/G)CATGG upstream-variant-2KB, reference, missense
rs398122814 Pathogenic 154,442,421(+) TTGTG(-/AG)AGCCA upstream-variant-2KB, reference, frameshift-variant
rs140855833 Uncertain significance 154,442,404(+) GAGCC(C/T)ATTGA upstream-variant-2KB, reference, synonymous-codon
rs782402492 Uncertain significance 154,442,223(+) GAGCC(A/G)GCTCT upstream-variant-2KB, reference, synonymous-codon
rs1000080652 -- 154,445,971(+) GGCTG(G/T)TCGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM50A Gene

Variant ID Type Subtype PubMed ID
nsv519042 CNV gain 19592680
esv3575039 CNV loss 25503493
esv33784 CNV gain+loss 17666407
esv33199 CNV gain+loss 17666407

Variation tolerance for FAM50A Gene

Residual Variation Intolerance Score: 19.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM50A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM50A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM50A Gene

Disorders for FAM50A Gene

Relevant External Links for FAM50A

Genetic Association Database (GAD)
FAM50A
Human Genome Epidemiology (HuGE) Navigator
FAM50A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM50A

No disorders were found for FAM50A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM50A Gene

Publications for FAM50A Gene

  1. Differential expression of XAP5, a candidate disease gene. (PMID: 9339379) Mazzarella R … Schlessinger D (Genomics 1997) 2 3 4 22 60
  2. Isolation and analysis of a novel gene, HXC-26, adjacent to the rab GDP dissociation inhibitor gene located at human chromosome Xq28 region. (PMID: 9039504) Toyoda A … Maeda H (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4 60
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 60
  5. 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 60

Products for FAM50A Gene

Sources for FAM50A Gene

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