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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. 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

GeneHancer (GH) Regulatory Elements for FAM50A Gene

Promoters and enhancers for FAM50A 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
GH0XJ154443 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 672.5 +0.1 100 2.3 HDGF RB1 ARNT SIN3A ZNF335 GLIS2 ATF7 CREM ZNF398 GATAD2B FAM50A GC0XM154442 GC0XM154443 GC0XM154444 GC0XP154443 GC0XP154446 LAGE3 UBL4A RPL10 GDI1
GH0XJ154483 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 21.9 +41.7 41708 3.8 PKNOX1 ATF1 ARNT SIN3A ZBTB7B POLR2B ZNF766 GLIS2 FOS ATF7 UBL4A LAGE3 FAM3A FAM50A GDI1 ATP6AP1 CH17-340M24.3 GC0XM154482 SLC10A3
GH0XJ154426 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 21.3 -14.6 -14613 5.4 PKNOX1 ARNT ARID4B SIN3A ZNF2 YY1 FOS SP3 NFYC ZHX2 CH17-340M24.3 ATP6AP1 FAM50A FAM3A SNORA70 HCFC1 SNORA56 PLXNA3 DKC1 GC0XP154437
GH0XJ154436 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 21.8 -6.5 -6488 3.1 HDAC1 ATF1 RB1 ARID4B KLF17 SIN3A YY1 ZNF335 GLIS2 ZNF213 GC0XP154437 GC0XP154438 GC0XP154439 GDI1 FAM50A PLXNA3 DNASE1L1 ATP6AP1 GC0XM154442
GH0XJ154457 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 18.7 +14.9 14879 3.2 SIN3A ZNF766 GLIS2 FOS ATF7 SP3 ZNF585B SMARCA4 GLIS1 NBN PLXNA3 FAM3A FAM50A HCFC1 LAGE3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM50A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM50A gene promoter:
  • CREB
  • deltaCREB
  • YY1
  • Pax-5
  • MRF-2
  • PPAR-alpha
  • SEF-1 (1)
  • NF-kappaB
  • NF-kappaB1

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)
Size:
6,530 bases
Orientation:
Plus strand

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 Lys305 and Lys271
  • Modification sites at PhosphoSitePlus

Other Protein References for FAM50A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for FAM50A
  • Boster Bio Antibodies for FAM50A
  • Santa Cruz Biotechnology (SCBT) Antibodies for FAM50A

No data available for DME Specific Peptides for FAM50A Gene

Domains & Families for FAM50A Gene

Gene Families for FAM50A Gene

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 HDA 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM50A

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
GO:0005654 nucleoplasm IDA --
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

mRNA/cDNA for FAM50A Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(273) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FAM50A Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM50A

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, 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

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 34 33
  • 99.12 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM50A 34 33
  • 91.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM50A 34 33
  • 90.66 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam50a 16 34 33
  • 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 34 33
  • 70.34 (n)
OneToMany
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)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9535 33
soybean
(Glycine max)
eudicotyledons Gma.8107 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
Cin.4681 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for FAM50A: view image

Paralogs for FAM50A Gene

Paralogs for FAM50A Gene

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

  • FA50A_HUMAN
  • B0S8I6_HUMAN
  • Q6PJH5_HUMAN
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 Variation AA Info Type
rs121434609 pathogenic, X-Linked Mental Retardation 41 154,442,596(+) G/C upstream_transcript_variant
rs398122814 pathogenic, X-Linked Mental Retardation 41 154,442,420(+) GAGAG/GAG upstream_transcript_variant
rs1064796588 uncertain-significance, not specified 154,442,611(+) C/T upstream_transcript_variant
rs140855833 uncertain-significance, not specified 154,442,404(+) C/T upstream_transcript_variant
rs782356686 uncertain-significance, not specified 154,442,440(+) G/A upstream_transcript_variant

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

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

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)

Additional Variant Information 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

Additional Disease Information for FAM50A

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

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 58
  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 58
  3. The Fam50a positively regulates ameloblast differentiation via interacting with Runx2. (PMID: 28574578) Kim Y … Koh JT (Journal of cellular physiology 2018) 2 3 58
  4. Yeast X-chromosome-associated protein 5 (Xap5) functions with H2A.Z to suppress aberrant transcripts. (PMID: 24957674) Anver S … Harmer SL (EMBO reports 2014) 2 3 58
  5. 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 44 58

Products for FAM50A Gene

Sources for FAM50A Gene

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