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Aliases for FAM71B Gene

Aliases for FAM71B Gene

  • Family With Sequence Similarity 71 Member B 2 3 5
  • Family With Sequence Similarity 71, Member B 2

External Ids for FAM71B Gene

Previous GeneCards Identifiers for FAM71B Gene

  • GC05M156522
  • GC05M156589
  • GC05M151677

Summaries for FAM71B Gene

GeneCards Summary for FAM71B Gene

FAM71B (Family With Sequence Similarity 71 Member B) is a Protein Coding gene. Diseases associated with FAM71B include Facioscapulohumeral Muscular Dystrophy 1. An important paralog of this gene is FAM71A.

UniProtKB/Swiss-Prot for FAM71B Gene

  • May be involved in RNA biogenesis.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM71B Gene

Genomics for FAM71B Gene

Regulatory Elements for FAM71B Gene

Enhancers for FAM71B 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
GH05F157190 0.2 Ensembl 12.7 -24.2 -24233 0.2 FAM71B MED7 ITK HAVCR2 HAVCR1 ENSG00000253980
GH05F157187 0.9 Ensembl 12.7 -21.9 -21933 1.6 FAM71B MED7 ITK HAVCR2 HAVCR1 ENSG00000253980
GH05F157189 0.5 Ensembl 12.7 -23.1 -23133 0.4 FAM71B MED7 ITK HAVCR2 HAVCR1 ENSG00000253980
GH05F157193 1.1 FANTOM5 Ensembl ENCODE 12.6 -28.0 -28023 2.1 ITK HAVCR2 FAM71B MED7 ENSG00000253980 HAVCR1 CYFIP2
GH05F157197 1.4 FANTOM5 ENCODE 12.2 -32.5 -32518 1.7 MTA2 ZNF341 IKZF1 TBX21 SPI1 HAVCR2 ITK FAM71B MED7 ENSG00000253980 CYFIP2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FAM71B on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM71B Gene

Chromosome:
5
Start:
157,161,846 bp from pter
End:
157,166,268 bp from pter
Size:
4,423 bases
Orientation:
Minus strand

Genomic View for FAM71B Gene

Genes around FAM71B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM71B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM71B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM71B Gene

Proteins for FAM71B Gene

  • Protein details for FAM71B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TC56-FA71B_HUMAN
    Recommended name:
    Protein FAM71B
    Protein Accession:
    Q8TC56
    Secondary Accessions:
    • Q1EDD9
    • Q8TC64
    • Q96LY8

    Protein attributes for FAM71B Gene

    Size:
    605 amino acids
    Molecular mass:
    64756 Da
    Quaternary structure:
    • Interacts with FRG1.

neXtProt entry for FAM71B Gene

Post-translational modifications for FAM71B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM71B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM71B Gene

Domains & Families for FAM71B Gene

Protein Domains for FAM71B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM71B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TC56

UniProtKB/Swiss-Prot:

FA71B_HUMAN :
  • Belongs to the FAM71 family.
Family:
  • Belongs to the FAM71 family.
genes like me logo Genes that share domains with FAM71B: view

No data available for Gene Families for FAM71B Gene

Function for FAM71B Gene

Molecular function for FAM71B Gene

UniProtKB/Swiss-Prot Function:
May be involved in RNA biogenesis.

Phenotypes for FAM71B Gene

GenomeRNAi human phenotypes for FAM71B:
genes like me logo Genes that share phenotypes with FAM71B: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM71B Gene

Localization for FAM71B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM71B Gene

Nucleus. Note=Cajal body and speckle localization.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM71B Gene COMPARTMENTS Subcellular localization image for FAM71B gene
Compartment Confidence
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for FAM71B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
genes like me logo Genes that share ontologies with FAM71B: view

Pathways & Interactions for FAM71B Gene

SuperPathways for FAM71B Gene

No Data Available

Interacting Proteins for FAM71B Gene

Selected Interacting proteins: Q8TC56-FA71B_HUMAN for FAM71B Gene via IID

Symbol External ID(s) Details
FRG1
PABPN1

Gene Ontology (GO) - Biological Process for FAM71B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM71B Gene

Transcripts for FAM71B Gene

mRNA/cDNA for FAM71B Gene

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

Unigene Clusters for FAM71B Gene

Family with sequence similarity 71, member B:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM71B Gene

No ASD Table

Relevant External Links for FAM71B Gene

GeneLoc Exon Structure for
FAM71B
ECgene alternative splicing isoforms for
FAM71B

Expression for FAM71B Gene

mRNA expression in normal human tissues for FAM71B Gene

mRNA differential expression in normal tissues according to GTEx for FAM71B Gene

This gene is overexpressed in Testis (x52.6).

Protein differential expression in normal tissues from HIPED for FAM71B Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM71B Gene



Protein tissue co-expression partners for FAM71B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM71B Gene:

FAM71B

SOURCE GeneReport for Unigene cluster for FAM71B Gene:

Hs.666099
genes like me logo Genes that share expression patterns with FAM71B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for FAM71B Gene

Orthologs for FAM71B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM71B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM71B 34 35
  • 98.51 (n)
dog
(Canis familiaris)
Mammalia FAM71B 34 35
  • 77.41 (n)
cow
(Bos Taurus)
Mammalia FAM71B 34 35
  • 76.11 (n)
rat
(Rattus norvegicus)
Mammalia Fam71b 34
  • 71.12 (n)
mouse
(Mus musculus)
Mammalia Fam71b 34 16 35
  • 70.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 67 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 60 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 49 (a)
ManyToMany
-- 35
  • 45 (a)
ManyToMany
Species where no ortholog for FAM71B 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for FAM71B Gene

ENSEMBL:
Gene Tree for FAM71B (if available)
TreeFam:
Gene Tree for FAM71B (if available)

Paralogs for FAM71B Gene

(2) SIMAP similar genes for FAM71B Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for FAM71B Gene

genes like me logo Genes that share paralogs with FAM71B: view

Variants for FAM71B Gene

Sequence variations from dbSNP and Humsavar for FAM71B Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs10475539 -- 157,164,693(+) TGCAC(A/G)TGCAT intron-variant
rs10475923 -- 157,164,603(+) tttta(C/T)gtgct intron-variant
rs111474758 -- 157,162,645(+) CTGAG(A/G/T)CTCCT reference, synonymous-codon, missense
rs111478204 -- 157,164,014(+) ACTGC(A/G)CCACT intron-variant
rs111530686 -- 157,166,922(+) TCTCT(A/G)CTCAC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for FAM71B Gene

Variant ID Type Subtype PubMed ID
esv3575892 CNV gain 25503493

Variation tolerance for FAM71B Gene

Residual Variation Intolerance Score: 95.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.96; 59.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM71B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM71B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM71B Gene

Disorders for FAM71B Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM71B Gene - From: DISEASES

Disorder Aliases PubMed IDs
facioscapulohumeral muscular dystrophy 1
  • facioscapulohumeral muscular dystrophy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FAM71B

Genetic Association Database (GAD)
FAM71B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM71B
genes like me logo Genes that share disorders with FAM71B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM71B Gene

Publications for FAM71B Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  3. The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis. (PMID: 26687479) Oliviero G. … Cagney G. (Sci. Rep. 2015) 3 64
  4. Proteomic characterization of the human sperm nucleus. (PMID: 21630459) de Mateo S. … Oliva R. (Proteomics 2011) 3 64
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3 64

Products for FAM71B Gene

Sources for FAM71B Gene

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