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FAM71E2 Gene(Protein Coding)

Family With Sequence Similarity 71 Member E2

GCID:
GC19M055354
GIFtS:
39
Genes Participants
UDN Logo

Aliases for FAM71E2 Gene

Aliases for FAM71E2 Gene

  • Family With Sequence Similarity 71 Member E2 2 3 5
  • C19orf16 3 4
  • Family With Sequence Similarity 71, Member E2 2
  • Chromosome 19 Open Reading Frame 16 2
  • Putative Protein FAM71E2 3
  • Protein FAM71E2 3

External Ids for FAM71E2 Gene

Previous HGNC Symbols for FAM71E2 Gene

  • C19orf16

Previous GeneCards Identifiers for FAM71E2 Gene

  • GC19M060569
  • GC19M060570
  • GC19M060571
  • GC19M060573
  • GC19M060574
  • GC19M055866
  • GC19M052190

Summaries for FAM71E2 Gene

GeneCards Summary for FAM71E2 Gene

FAM71E2 (Family With Sequence Similarity 71 Member E2) is a Protein Coding gene. An important paralog of this gene is ENSG00000267706.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM71E2 Gene

Genomics for FAM71E2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for FAM71E2 Gene

Enhancers for FAM71E2 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
GH19G055337 1.8 FANTOM5 ENCODE dbSUPER 18 +23.4 23433 4.0 MLX CREB3L1 FEZF1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 NFYC LENG8-AS1 ENSG00000235681 U2AF2 FAM71E2 KMT5C PPP6R1 ZNF628 TMEM238 IL11 TMEM190
GH19G055320 1.5 FANTOM5 Ensembl ENCODE 11.6 +39.9 39935 5.7 PKNOX1 SCRT2 CREM CEBPB ELF1 ZNF592 ZNF579 SMARCA4 CEBPA IKZF1 FCAR TMEM150B FAM71E2 IL11 TMEM190 BRSK1 HSPBP1 PPP6R1 RPL28 TMEM238
GH19G055382 1.4 ENCODE dbSUPER 11.4 -23.6 -23604 8.2 HDGF PKNOX1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF207 KLF13 RPL28 ZNF581 U2AF2 COX6B2 BRSK1 FAM71E2 SHISA7 ISOC2 ZNF628 ENSG00000239137
GH19G055371 1.5 FANTOM5 Ensembl ENCODE 9.1 -12.1 -12141 7.1 ELF3 AGO1 SIN3A RAD21 ZNF48 RARA GLIS2 EGR1 FOS THAP11 TMEM190 RPL28 FAM71E2 EPS8L1 ZNF628 IL11
GH19G055291 1.1 Ensembl ENCODE 11.7 +71.2 71227 1.0 HDAC1 ELF3 TBP PKNOX1 FOXA2 ARNT ARID4B SIN3A RAD21 RFX5 ZNF581 U2AF2 ENSG00000267523 ENSG00000235681 ENSG00000267265 LENG8-AS1 ZNF628 PPP6R1 RPL28 TMEM238
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM71E2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the FAM71E2 gene promoter:

Genomic Location for FAM71E2 Gene

Chromosome:
19
Start:
55,354,908 bp from pter
End:
55,363,260 bp from pter
Size:
8,353 bases
Orientation:
Minus strand

Genomic View for FAM71E2 Gene

Genes around FAM71E2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM71E2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM71E2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FAM71E2 Gene

Proteins for FAM71E2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for FAM71E2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5Q1-F71E2_HUMAN
    Recommended name:
    Protein FAM71E2
    Protein Accession:
    Q8N5Q1
    Secondary Accessions:
    • Q8ND99

    Protein attributes for FAM71E2 Gene

    Size:
    922 amino acids
    Molecular mass:
    99915 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH31875.1; Type=Frameshift; Positions=198; Evidence={ECO:0000305}; Sequence=AAH31875.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=CAD38986.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for FAM71E2 Gene

Protein Expression for FAM71E2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FAM71E2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM71E2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM71E2 Gene

Domains & Families for FAM71E2 Gene

Protein Domains for FAM71E2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM71E2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N5Q1

UniProtKB/Swiss-Prot:

F71E2_HUMAN :
  • Belongs to the FAM71 family.
Family:
  • Belongs to the FAM71 family.
genes like me logo Genes that share domains with FAM71E2: view

No data available for Gene Families for FAM71E2 Gene

Function for FAM71E2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Phenotypes for FAM71E2 Gene

GenomeRNAi human phenotypes for FAM71E2:
genes like me logo Genes that share phenotypes with FAM71E2: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FAM71E2 Gene

Localization for FAM71E2 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 FAM71E2 gene
Compartment Confidence
nucleus 4
plasma membrane 2
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for FAM71E2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with FAM71E2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAM71E2 Gene

Pathways & Interactions for FAM71E2 Gene

SuperPathways for FAM71E2 Gene

PathCards logo More details on SuperPathways for FAM71E2
No Data Available

Interacting Proteins for FAM71E2 Gene

Selected Interacting proteins: Q8N5Q1-F71E2_HUMAN for FAM71E2 Gene via IID

Gene Ontology (GO) - Biological Process for FAM71E2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM71E2 Gene

Drugs & Compounds for FAM71E2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for FAM71E2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for FAM71E2 Gene

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

Unigene Clusters for FAM71E2 Gene

Family with sequence similarity 71, member E2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM71E2 Gene

No ASD Table

Relevant External Links for FAM71E2 Gene

GeneLoc Exon Structure for
FAM71E2
ECgene alternative splicing isoforms for
FAM71E2

Expression for FAM71E2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM71E2 Gene

mRNA expression in normal human tissues for FAM71E2 Gene
mRNA expression by GTEx for FAM71E2 Gene

mRNA differential expression in normal tissues according to GTEx for FAM71E2 Gene

This gene is overexpressed in Testis (x51.6).

Protein differential expression in normal tissues from HIPED for FAM71E2 Gene

This gene is overexpressed in Liver (48.1) and Peripheral blood mononuclear cells (20.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM71E2 Gene



Protein tissue co-expression partners for FAM71E2 Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM71E2 Gene:

FAM71E2

SOURCE GeneReport for Unigene cluster for FAM71E2 Gene:

Hs.528319

Evidence on tissue expression from TISSUES for FAM71E2 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with FAM71E2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM71E2 Gene

Orthologs for FAM71E2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for FAM71E2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia FAM71E2 35
  • 95 (a)
 OneToOne
LOC749035 34
  • 94.66 (n)
cow
(Bos Taurus)
 Mammalia FAM71E2 34 35
  • 71.09 (n)
dog
(Canis familiaris)
 Mammalia FAM71E2 34
  • 69.02 (n)
mouse
(Mus musculus)
 Mammalia Fam71e2 34 16 35
  • 64.97 (n)
rat
(Rattus norvegicus)
 Mammalia Fam71e2 34
  • 62.44 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 35
  • 27 (a)
 ManyToMany
-- 35
  • 19 (a)
 ManyToMany
-- 35
  • 19 (a)
 ManyToMany
-- 35
  • 10 (a)
 ManyToMany
Species where no ortholog for FAM71E2 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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 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 FAM71E2 Gene

ENSEMBL:
Gene Tree for FAM71E2 (if available)
TreeFam:
Gene Tree for FAM71E2 (if available)

Paralogs for FAM71E2 Gene

Paralogs for FAM71E2 Gene

(2) SIMAP similar genes for FAM71E2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FAM71E2: view

Variants for FAM71E2 Gene

Sequence variations from dbSNP and Humsavar for FAM71E2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000123338 -- 55,362,968(+) TACTC(A/G)CCCTT reference, synonymous-codon
rs1000536843 -- 55,362,291(+) ATCCA(-/G)GGGGG reference, frameshift-variant
rs1000978796 -- 55,356,816(+) GAGGC(C/T)GAGGT intron-variant
rs1000995902 -- 55,357,671(+) GAGCA(C/T)ATCCC intron-variant
rs1001263555 -- 55,358,824(+) GGGGC(C/T)CTCGA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FAM71E2 Gene

Variant ID Type Subtype PubMed ID
esv1487088 CNV insertion 17803354
esv1695561 CNV deletion 17803354
esv2718961 CNV deletion 23290073
esv2718963 CNV deletion 23290073
esv2718964 CNV deletion 23290073
esv3556648 CNV deletion 23714750
esv5326 CNV loss 18987735
nsv1071551 CNV deletion 25765185
nsv1071552 CNV deletion 25765185
nsv1110729 CNV insertion 24896259
nsv1125679 CNV tandem duplication 24896259
nsv1135855 CNV deletion 24896259
nsv1142803 CNV deletion 24896259
nsv470162 CNV loss 18288195
nsv516199 CNV loss 19592680
nsv953624 CNV deletion 24416366

Variation tolerance for FAM71E2 Gene

Gene Damage Index Score: 7.19; 80.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM71E2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM71E2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM71E2 Gene

Disorders for FAM71E2 Gene

Relevant External Links for FAM71E2

Genetic Association Database (GAD)
FAM71E2
Human Genome Epidemiology (HuGE) Navigator
FAM71E2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM71E2

No disorders were found for FAM71E2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM71E2 Gene

Publications for FAM71E2 Gene

  1. 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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  3. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud P.J. … . (Am. J. Hum. Genet. 2009) 3 64
  4. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4 64

Products for FAM71E2 Gene

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