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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.

Additional gene information for FAM71E2 Gene

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

GeneHancer (GH) Regulatory Elements for FAM71E2 Gene

Promoters and enhancers for FAM71E2 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
GH19I055363 Promoter 0.7 EPDnew 557.4 0.0 -20 0.1 RFX1 ZIC2 FAM71E2 IL11
GH19I055337 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18 +23.4 23432 4 CLOCK MLX FEZF1 DMAP1 YY1 E2F8 ZNF143 ZNF548 SP3 NFYC KMT5C ENSG00000276831 LENG8-AS1 U2AF2 LENG8 ZNF628 ENSG00000235681 ENSG00000267523 ENSG00000267096 FAM71E2
GH19I055382 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.4 -23.6 -23604 8.2 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 RPL28 MIR6805 PIR44435 TMEM238 ZNF628 LENG8-AS1 ZNF581 U2AF2 COX6B2 BRSK1
GH19I055320 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE 11.6 +39.9 39934 5.7 BACH1 ZNF384 CEBPG E4F1 ZNF316 POLR2A SCRT2 NFE2 MAFK CREM TMEM150B FCAR FAM71E2 IL11 TMEM190 HSPBP1 BRSK1 PPP6R1 RPL28 TMEM238
GH19I055371 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE 9.1 -12.1 -12141 7.1 FOXA2 SIN3A ZNF48 GLIS2 ATF7 FOS SP5 REST SMARCB1 GLIS1 TMEM190 RPL28 FAM71E2 EPS8L1 ZNF628 ENSG00000269275 IL11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM71E2 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for FAM71E2 Gene

Genomic Locations for FAM71E2 Gene
chr19:55,354,908-55,363,260
(GRCh38/hg38)
Size:
8,353 bases
Orientation:
Minus strand
chr19:55,866,276-55,874,628
(GRCh37/hg19)

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 StructureGene Density

RefSeq DNA sequence for FAM71E2 Gene

Proteins for FAM71E2 Gene

  • 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

Post-translational modifications for FAM71E2 Gene

No Post-translational modifications

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

Gene Families for FAM71E2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

Function for FAM71E2 Gene

Phenotypes From GWAS Catalog for FAM71E2 Gene

Phenotypes for FAM71E2 Gene

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

Animal Model Products

Clone 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 and Subcellular locations from the Human Protein Atlas (HPA) for FAM71E2 Gene

Pathways & Interactions for FAM71E2 Gene

SuperPathways for FAM71E2 Gene

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

No Compound Related Data Available

Transcripts for FAM71E2 Gene

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:

Clone 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

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

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 34
  • 95 (a)
OneToOne
LOC749035 33
  • 94.66 (n)
cow
(Bos Taurus)
Mammalia FAM71E2 33 34
  • 71.09 (n)
dog
(Canis familiaris)
Mammalia FAM71E2 33
  • 69.02 (n)
mouse
(Mus musculus)
Mammalia Fam71e2 33 16 34
  • 64.97 (n)
rat
(Rattus norvegicus)
Mammalia Fam71e2 33
  • 62.44 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 27 (a)
ManyToMany
-- 34
  • 19 (a)
ManyToMany
-- 34
  • 19 (a)
ManyToMany
-- 34
  • 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

(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 Variation AA Info Type
rs1000123338 -- 55,362,968(-) G/A/T coding_sequence_variant, synonymous_variant
rs1000536843 -- 55,362,292(-) GGGGGG/GGGGGGG coding_sequence_variant, frameshift
rs1000978796 -- 55,356,816(-) C/T intron_variant
rs1000995902 -- 55,357,671(-) C/T intron_variant
rs1001263555 -- 55,358,824(-) C/T coding_sequence_variant, missense_variant

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)

Additional Variant Information 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

Additional Disease Information for FAM71E2

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

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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  3. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud PJ … BRIGHT Consortium (American journal of human genetics 2009) 3 58
  4. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 58
  5. An investigation into the human serum "interactome". (PMID: 15174051) Zhou M … Conrads TP (Electrophoresis 2004) 3 58

Products for FAM71E2 Gene

Sources for FAM71E2 Gene

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