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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.

Additional gene information for FAM71B Gene

No data available for Entrez Gene Summary , CIViC 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
GH05H157197 1.2 FANTOM5 ENCODE dbSUPER 12.3 -32.5 -32518 1 ZNF341 IKZF1 DPF2 IKZF2 SPI1 HAVCR2 ITK FAM71B MED7 ENSG00000253980 CYFIP2
GH05H157216 1.1 Ensembl ENCODE dbSUPER 11.4 -50.8 -50845 2 HDGF REST BATF GABPA FOSL1 ZFHX2 EGR1 EGR2 SPI1 FAM71B MED7 ITK LOC102724404 ENSG00000253980
GH05H157311 1 ENCODE dbSUPER 11.7 -146.0 -146037 2 CTCF BACH1 ARID4B MAX BATF RAD21 POLR2A SMC3 ZNF143 NFE2 FNDC9 ADAM19 FAM71B MED7 ITK HAVCR2 NIPAL4 GC05P157304 GC05P157329
GH05H157193 0.9 FANTOM5 ENCODE dbSUPER 12.6 -28.0 -28023 2 ITK HAVCR2 FAM71B MED7 ENSG00000253980 HAVCR1 CYFIP2
GH05H157215 0.9 ENCODE dbSUPER 11.3 -49.1 -49097 0 ZNF687 MAZ TRIM22 JUNB ELF1 EBF1 EED IKZF1 ETV6 CUX1 FAM71B MED7 ITK ENSG00000253980
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM71B on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM71B Gene

157,161,846 bp from pter
157,166,268 bp from pter
4,423 bases
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:
    Recommended name:
    Protein FAM71B
    Protein Accession:
    Secondary Accessions:
    • Q1EDD9
    • Q8TC64
    • Q96LY8

    Protein attributes for FAM71B Gene

    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

Gene Families for FAM71B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM71B Gene


Suggested Antigen Peptide Sequences for FAM71B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

Function for FAM71B Gene

Molecular function for FAM71B Gene

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

Phenotypes From GWAS Catalog for FAM71B Gene

Phenotypes for FAM71B Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAM71B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FAM71B Gene

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

Gene Ontology (GO) - Biological Process for FAM71B Gene


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

Drugs & Compounds for FAM71B Gene

No Compound Related Data Available

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAM71B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for FAM71B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAM71B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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:


SOURCE GeneReport for Unigene cluster for FAM71B Gene:

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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia FAM71B 33 34
  • 98.51 (n)
(Canis familiaris)
Mammalia FAM71B 33 34
  • 77.41 (n)
(Bos Taurus)
Mammalia FAM71B 34 33
  • 76.11 (n)
(Rattus norvegicus)
Mammalia Fam71b 33
  • 71.12 (n)
(Mus musculus)
Mammalia Fam71b 33 16 34
  • 70.7 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 67 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 60 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 49 (a)
-- 34
  • 45 (a)
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

Gene Tree for FAM71B (if available)
Gene Tree for FAM71B (if available)

Paralogs for FAM71B Gene

(2) SIMAP similar genes for FAM71B Gene using alignment to 1 proteins: 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
rs1000851871 -- 157,167,324(+) TCATT(G/T)GTAGT upstream-variant-2KB
rs1000895882 -- 157,167,082(+) ACTCC(C/T)GACCT upstream-variant-2KB
rs1001806042 -- 157,162,515(+) CATCT(C/T)CAGCT reference, missense
rs1002550966 -- 157,166,434(+) CTGCC(G/T)GGGGT upstream-variant-2KB
rs1002755969 -- 157,163,980(+) TGAAC(G/T)CAGAA intron-variant

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

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)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 (Nature genetics 2004) 3 4 60
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60
  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 (Scientific reports 2015) 3 60
  4. Proteomic characterization of the human sperm nucleus. (PMID: 21630459) de Mateo S … Oliva R (Proteomics 2011) 3 60
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L … Andersson-Svahn H (Molecular & cellular proteomics : MCP 2008) 3 60

Products for FAM71B Gene

Sources for FAM71B Gene

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