Aliases for FAM71B Gene

Aliases for FAM71B Gene

  • Family With Sequence Similarity 71 Member B 2 3 5
  • Protein FAM71B 3 4
  • Family With Sequence Similarity 71, Member B 2
  • Testicular Tissue Protein Li 68 3

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 Summary for FAM71B Gene

Additional gene information for FAM71B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM71B Gene

Genomics for FAM71B Gene

GeneHancer (GH) Regulatory Elements for FAM71B Gene

Promoters and enhancers for FAM71B 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
GH05J157167 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE dbSUPER 500.7 -0.7 -733 2 CREB1 IKZF1 ATF2 IKZF2 DPF2 FAM71B HAVCR1 MED7 RF00017-5042 ITK
GH05J157311 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.7 -145.6 -145633 3 CTCF NRF1 REST RAD21 TRIM22 SMC3 NBN BATF IRF4 EBF1 FNDC9 ADAM19 FAM71B MED7 ITK HAVCR2 NIPAL4 piR-31779 lnc-ITK-2 CYFIP2
GH05J157197 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 12.3 -32.5 -32518 1.7 TRIM22 ZNF341 MEF2B IKZF1 TBX21 SPI1 MTA2 IKZF2 DPF2 RELB HAVCR2 ITK FAM71B MED7 ENSG00000253980 CYFIP2 RF00017-5042
GH05J157302 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.7 -140.4 -140433 6.6 CTCF RAD21 POLR2A SMC3 FOS MEF2B BATF EBF1 KDM1A JUNB FNDC9 NIPAL4 MED7 FAM71B ITK HAVCR2 ENSG00000253980 piR-31779 lnc-ITK-2 CYFIP2
GH05J157215 Enhancer 0.8 ENCODE dbSUPER 11.3 -49.1 -49097 0.2 RCOR1 MEF2B ELF1 EBF1 IKZF1 MAZ ATF2 TBX21 JUNB NFATC1 FAM71B MED7 ITK ENSG00000253980 RF00017-5042
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM71B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM71B

Top Transcription factor binding sites by QIAGEN in the FAM71B gene promoter:
  • AML1a
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-3
  • IRF-1
  • Nkx3-1
  • Nkx3-1 v4
  • STAT1

Genomic Locations for FAM71B Gene

Genomic Locations for FAM71B Gene
chr5:157,161,846-157,166,268
(GRCh38/hg38)
Size:
4,423 bases
Orientation:
Minus strand
chr5:156,588,857-156,593,279
(GRCh37/hg19)
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

Gene Families for FAM71B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM71B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM71B Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM71B (FA71B_HUMAN)

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

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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM71B

Clone 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
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 1
cytosol 0

Gene Ontology (GO) - Cellular Components for FAM71B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 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

PathCards logo

SuperPathways for FAM71B Gene

No Data Available

Interacting Proteins for FAM71B Gene

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

;

Gene Ontology (GO) - Biological Process for FAM71B Gene

None

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 :
8 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM71B

Clone 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

Expression for FAM71B Gene

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM71B

SOURCE GeneReport for Unigene cluster for FAM71B Gene:

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

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
chimpanzee
(Pan troglodytes)
Mammalia FAM71B 31 30
  • 98.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM71B 31 30
  • 77.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM71B 31 30
  • 76.11 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam71b 30
  • 71.12 (n)
mouse
(Mus musculus)
Mammalia Fam71b 17 31 30
  • 70.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 67 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 60 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 49 (a)
ManyToMany
-- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FAM71B: view image

Paralogs for FAM71B Gene

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

  • FA71B_HUMAN

Pseudogenes.org Pseudogenes for FAM71B Gene

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

Variants for FAM71B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM71B Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs17852327 - p.Ala543Val
rs2115480 - p.Val599Ile
rs31208 - p.Met564Thr

Additional dbSNP identifiers (rs#s) for FAM71B Gene

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)

Additional Variant Information 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
  • fmd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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. FRG1P-mediated aggregation of proteins involved in pre-mRNA processing. (PMID: 17103222) van Koningsbruggen S … van der Maarel SM (Chromosoma 2007) 2 3 4 54
  2. Combining RNA and protein profiling data with network interactions identifies genes associated with spermatogenesis in mouse and human. (PMID: 25609838) Petit FG … Primig M (Biology of reproduction 2015) 2 3 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. 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 54
  5. Proteomic characterization of the human sperm nucleus. (PMID: 21630459) de Mateo S … Oliva R (Proteomics 2011) 3 54

Products for FAM71B Gene

Sources for FAM71B Gene