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Aliases for FAM50B Gene

Aliases for FAM50B Gene

  • Family With Sequence Similarity 50 Member B 2 3 5
  • X5L 3 4
  • Family With Sequence Similarity 50, Member B 2
  • Protein XAP-5-Like 4
  • XAP5-Like Protein 3
  • Protein FAM50B 3
  • D6S2654E 3

External Ids for FAM50B Gene

Previous GeneCards Identifiers for FAM50B Gene

  • GC06P003795
  • GC06P003726

Summaries for FAM50B Gene

Entrez Gene Summary for FAM50B Gene

  • This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and paternally expressed in many tissues. [provided by RefSeq, Nov 2015]

GeneCards Summary for FAM50B Gene

FAM50B (Family With Sequence Similarity 50 Member B) is a Protein Coding gene. An important paralog of this gene is FAM50A.

Additional gene information for FAM50B Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM50B Gene

Genomics for FAM50B Gene

GeneHancer (GH) Regulatory Elements for FAM50B Gene

Promoters and enhancers for FAM50B 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
GH06I003847 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.6 -553 3.1 ARNT NFIB SIN3A BRCA1 ZNF48 ZBTB40 RAD21 RFX5 YY1 ETS1 FAM50B LOC107987516 ENSG00000272277
GH06I004017 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.9 +171.1 171140 7 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 PRPF4B ENSG00000230648 ENSG00000272248 RIPK1 PSMG4 ENSG00000228170 C6orf201 ENSG00000272320 CDYL FAM50B
GH06I003822 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11 -24.4 -24424 5.1 FOXA2 ARID4B SIN3A ZNF48 YY1 ZNF121 ZNF143 FOS DEK MXD4 GC06M003824 LOC107987516 FAM50B PXDC1 GC06P003775
GH06I003795 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -51.8 -51812 4.1 ELF3 FOXA2 ARNT ARID4B DMAP1 THRB RCOR1 ATF7 FOS CREM FAM50B LOC107987516 PXDC1 GC06P003775 GC06M003824
GH06I003867 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.5 +21.1 21094 5.8 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 SLC30A9 RXRA SP5 FAM50B GC06M003865 GC06P003853 ENSG00000233068
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM50B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM50B gene promoter:

Genomic Locations for FAM50B Gene

Genomic Locations for FAM50B Gene
chr6:3,849,386-3,851,317
(GRCh38/hg38)
Size:
1,932 bases
Orientation:
Plus strand
chr6:3,849,620-3,851,551
(GRCh37/hg19)

Genomic View for FAM50B Gene

Genes around FAM50B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM50B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM50B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM50B Gene

Proteins for FAM50B Gene

  • Protein details for FAM50B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y247-FA50B_HUMAN
    Recommended name:
    Protein FAM50B
    Protein Accession:
    Q9Y247
    Secondary Accessions:
    • Q5T2L6

    Protein attributes for FAM50B Gene

    Size:
    325 amino acids
    Molecular mass:
    38709 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM50B Gene

Post-translational modifications for FAM50B Gene

No Post-translational modifications

Other Protein References for FAM50B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM50B Gene

Domains & Families for FAM50B Gene

Gene Families for FAM50B Gene

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

Protein Domains for FAM50B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM50B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y247

UniProtKB/Swiss-Prot:

FA50B_HUMAN :
  • Belongs to the FAM50 family.
Family:
  • Belongs to the FAM50 family.
genes like me logo Genes that share domains with FAM50B: view

Function for FAM50B Gene

Molecular function for FAM50B Gene

UniProtKB/Swiss-Prot Induction:
Imprinted. Promoter methylation of the maternal allele may restrict expression to the paternal allele in placenta.

Phenotypes From GWAS Catalog for FAM50B Gene

Gene Ontology (GO) - Molecular Function for FAM50B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19060904
genes like me logo Genes that share ontologies with FAM50B: view

Phenotypes for FAM50B Gene

GenomeRNAi human phenotypes for FAM50B:
genes like me logo Genes that share phenotypes with FAM50B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FAM50B Gene

Localization for FAM50B 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 FAM50B gene
Compartment Confidence
nucleus 5
extracellular 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM50B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0045171 intercellular bridge IDA --
genes like me logo Genes that share ontologies with FAM50B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAM50B Gene

Pathways & Interactions for FAM50B Gene

SuperPathways for FAM50B Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM50B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM50B Gene

Drugs & Compounds for FAM50B Gene

No Compound Related Data Available

Transcripts for FAM50B Gene

mRNA/cDNA for FAM50B Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(84) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FAM50B Gene

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

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM50B Gene

No ASD Table

Relevant External Links for FAM50B Gene

GeneLoc Exon Structure for
FAM50B
ECgene alternative splicing isoforms for
FAM50B

Expression for FAM50B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM50B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM50B Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FAM50B Gene



Protein tissue co-expression partners for FAM50B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM50B Gene:

FAM50B

SOURCE GeneReport for Unigene cluster for FAM50B Gene:

Hs.140944

mRNA Expression by UniProt/SwissProt for FAM50B Gene:

Q9Y247-FA50B_HUMAN
Tissue specificity: Widely expressed. Mostly abundant in testis and adult and fetal brain.
genes like me logo Genes that share expression patterns with FAM50B: view

Primer Products

No data available for mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM50B Gene

Orthologs for FAM50B Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM50B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM50B 33 34
  • 93.91 (n)
mouse
(Mus musculus)
Mammalia Fam50b 33 16 34
  • 85.74 (n)
rat
(Rattus norvegicus)
Mammalia Fam50b 33
  • 85.23 (n)
zebrafish
(Danio rerio)
Actinopterygii fam50a 34
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG12259 34
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C47E8.4 34
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3121 34
  • 53 (a)
OneToMany
Species where no ortholog for FAM50B 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for FAM50B Gene

ENSEMBL:
Gene Tree for FAM50B (if available)
TreeFam:
Gene Tree for FAM50B (if available)

Paralogs for FAM50B Gene

Paralogs for FAM50B Gene

(1) SIMAP similar genes for FAM50B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FAM50B: view

Variants for FAM50B Gene

Sequence variations from dbSNP and Humsavar for FAM50B Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000287332 -- 3,848,799(+) G/A genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000325271 -- 3,848,488(+) C/T genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000406197 -- 3,841,828(+) T/C genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000478443 -- 3,832,022(+) T/A genic_upstream_transcript_variant, intron_variant
rs1000575638 -- 3,848,576(+) G/A genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Variation tolerance for FAM50B Gene

Residual Variation Intolerance Score: 24.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM50B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM50B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FAM50B Gene

Disorders for FAM50B Gene

Additional Disease Information for FAM50B

No disorders were found for FAM50B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM50B Gene

Publications for FAM50B Gene

  1. Human and mouse XAP-5 and XAP-5-like (X5L) genes: identification of an ancient functional retroposon differentially expressed in testis. (PMID: 10534398) Sedlacek Z … Poustka A (Genomics 1999) 2 3 4 22 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. Widespread macromolecular interaction perturbations in human genetic disorders. (PMID: 25910212) Sahni N … Vidal M (Cell 2015) 3 58
  4. Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype. (PMID: 26003415) Kolarova J … Caliebe A (European journal of medical genetics 2015) 3 58
  5. Expression of imprinted genes in placenta is associated with infant neurobehavioral development. (PMID: 26198301) Green BB … Marsit CJ (Epigenetics 2015) 3 58

Products for FAM50B Gene

Sources for FAM50B Gene

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