Aliases for FAM71E2 Gene

Aliases for FAM71E2 Gene

  • Family With Sequence Similarity 71 Member E2 2 3 5
  • Protein FAM71E2 3 4
  • C19orf16 3 4
  • Family With Sequence Similarity 71, Member E2 2
  • Chromosome 19 Open Reading Frame 16 2
  • Putative Protein FAM71E2 3
  • DKFZp434G1729 2
  • FAM71E2 5

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. Diseases associated with FAM71E2 include Donnai-Barrow Syndrome. An important paralog of this gene is ENSG00000267706.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM71E2 Gene

Genomics for FAM71E2 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH19J055362 Enhancer 0.5 Ensembl CraniofacialAtlas 259.5 +0.2 243 1.2 ZIC2 RFX1 FAM71E2 ENSG00000267706
GH19J055365 Enhancer 0.3 Ensembl 250.7 -0.6 -641 0.2 POLR2A FAM71E2 IL11 HSALNG0127649
GH19J055337 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18 +23.3 23349 4.2 SP1 ZNF207 IKZF1 JUND ZNF580 ATF2 CEBPA ZNF223 ZNF10 ATF3 KMT5C ENSG00000276831 HSALNG0127644 LENG8-AS1 LENG8 ENSG00000235681 ENSG00000267523 ENSG00000267096 ZNF580 FAM71E2
GH19J055382 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 -23.4 -23418 8.6 SP1 ZNF207 MYC ZNF600 SSRP1 ZNF580 ZNF592 POLR2A BRCA1 ZIC2 RPL28 HSALNG0127651 HSALNG0127652 TMEM238 MIR6805 piR-50436 IL11 ZNF628 FIZ1 ZNF542P
GH19J055319 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.6 +41.6 41609 4.1 IKZF1 SIX5 ZNF592 CEBPA CEBPB ETS1 MBD2 ZNF217 SIN3A THAP11 TMEM150B FCAR FAM71E2 IL11 TMEM190 BRSK1 HSPBP1 PPP6R1 RPL28 TMEM238
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM71E2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM71E2

Top Transcription factor binding sites by QIAGEN in the FAM71E2 gene promoter:
  • AML1a
  • ER-alpha
  • NF-1
  • NRSF form 1
  • NRSF form 2
  • Pax-5
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT3

Genomic Locations for FAM71E2 Gene

Latest Assembly
chr19:55,354,908-55,363,260
(GRCh38/hg38)
Size:
8,353 bases
Orientation:
Minus strand

Previous Assembly
chr19:55,866,276-55,874,628
(GRCh37/hg19 by Entrez Gene)
Size:
8,353 bases
Orientation:
Minus strand

chr19:55,866,276-55,874,628
(GRCh37/hg19 by Ensembl)
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 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; 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=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for FAM71E2 Gene

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

Gene Families for FAM71E2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM71E2 Gene

InterPro:

Suggested Antigen Peptide Sequences for FAM71E2 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM71E2 (F71E2_HUMAN)

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

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM71E2

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
plasma membrane 1
nucleus 1
mitochondrion 0
endoplasmic reticulum 0
cytosol 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for FAM71E2 Gene

Pathways & Interactions for FAM71E2 Gene

PathCards logo

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM71E2

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

No ASD Table

Relevant External Links for FAM71E2 Gene

GeneLoc Exon Structure for
FAM71E2

Expression for FAM71E2 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM71E2

SOURCE GeneReport for Unigene cluster for FAM71E2 Gene:

Hs.528319
genes like me logo Genes that share expression patterns with FAM71E2: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES 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 30
  • 95 (a)
OneToOne
LOC749035 29
  • 94.66 (n)
Cow
(Bos Taurus)
Mammalia FAM71E2 29 30
  • 71.09 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM71E2 29
  • 69.02 (n)
Mouse
(Mus musculus)
Mammalia Fam71e2 29 16 30
  • 64.97 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam71e2 29
  • 62.44 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 27 (a)
ManyToMany
-- 30
  • 19 (a)
ManyToMany
-- 30
  • 19 (a)
ManyToMany
-- 30
  • 10 (a)
ManyToMany
Species where no ortholog for FAM71E2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for FAM71E2: view image
Alliance of Genome Resources:
Additional Orthologs for FAM71E2

Paralogs for FAM71E2 Gene

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

  • F71E2_HUMAN
  • K7EMA1_HUMAN
genes like me logo Genes that share paralogs with FAM71E2: view

Variants for FAM71E2 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FAM71E2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
FAM71E2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM71E2 Gene

Disorders for FAM71E2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM71E2 Gene - From: COP

Disorder Aliases PubMed IDs
donnai-barrow syndrome
  • faciooculoacousticorenal syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM71E2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FAM71E2: view

No data available for 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 40
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3
  5. 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

Products for FAM71E2 Gene

Sources for FAM71E2 Gene