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Aliases for FAM71D Gene

Aliases for FAM71D Gene

  • Family With Sequence Similarity 71 Member D 2 3 5
  • C14orf54 3 4
  • Family With Sequence Similarity 71, Member D 2
  • Chromosome 14 Open Reading Frame 54 2
  • Protein FAM71D 3

External Ids for FAM71D Gene

Previous HGNC Symbols for FAM71D Gene

  • C14orf54

Previous GeneCards Identifiers for FAM71D Gene

  • GC14P066726
  • GC14P067656
  • GC14P047825

Summaries for FAM71D Gene

GeneCards Summary for FAM71D Gene

FAM71D (Family With Sequence Similarity 71 Member D) is a Protein Coding gene. An important paralog of this gene is FAM71B.

Additional gene information for FAM71D 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 FAM71D Gene

Genomics for FAM71D Gene

GeneHancer (GH) Regulatory Elements for FAM71D Gene

Promoters and enhancers for FAM71D Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J067189 Promoter 0.8 EPDnew 650.7 -0.1 -79 0.1 CTCF ZNF600 MAFK ZNF48 FAM71D LOC105370538 ENSG00000258490
GH14J067190 Promoter 0.8 EPDnew 650.7 +0.0 28 0.1 SCRT1 CTCF POLR2A SCRT2 ZNF600 MAFK ZNF48 FAM71D LOC105370538 SF3B4P1
GH14J066506 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 15.7 -681.0 -681006 3.2 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B ENSG00000258561 GPHN FAM71D LINC02290 NCOA4P1 ATP6V1D PLEK2 EIF2S1
GH14J068011 Enhancer 0.8 ENCODE 15.6 +822.5 822463 0.8 PKNOX1 ZSCAN4 MZF1 FEZF1 ZNF2 ZNF335 ZNF366 SCRT2 KLF7 OVOL3 FAM71D PIR59795 ENSG00000274666 RAD51B
GH14J067312 Enhancer 0.8 ENCODE 11.4 +122.7 122686 0.2 PKNOX1 CLOCK FOXA2 NFIB NEUROD1 SIN3A BMI1 ZNF207 FOS RCOR1 ATP6V1D EIF2S1 FAM71D GC14P067341 GC14M067261 GC14M067260 MPP5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM71D on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM71D gene promoter:
  • Evi-1
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • HTF
  • TGIF
  • FAC1
  • Oct-B1
  • oct-B2

Genomic Locations for FAM71D Gene

Genomic Locations for FAM71D Gene
39,158 bases
Plus strand
39,158 bases
Plus strand

Genomic View for FAM71D Gene

Genes around FAM71D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM71D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM71D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM71D Gene

Proteins for FAM71D Gene

  • Protein details for FAM71D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein FAM71D
    Protein Accession:
    Secondary Accessions:
    • Q86VN4

    Protein attributes for FAM71D Gene

    422 amino acids
    Molecular mass:
    47076 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM71D Gene


neXtProt entry for FAM71D Gene

Post-translational modifications for FAM71D Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM71D Gene

Domains & Families for FAM71D Gene

Gene Families for FAM71D Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM71D Gene


Suggested Antigen Peptide Sequences for FAM71D 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 FAM71D: view

Function for FAM71D Gene

genes like me logo Genes that share phenotypes with FAM71D: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM71D

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FAM71D Gene

Localization for FAM71D Gene

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 FAM71D gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FAM71D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with FAM71D: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for FAM71D Gene

Pathways & Interactions for FAM71D Gene

SuperPathways for FAM71D Gene

No Data Available

Interacting Proteins for FAM71D Gene

Selected Interacting proteins: Q8N9W8-FA71D_HUMAN for FAM71D Gene via IID

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for FAM71D Gene


No data available for Pathways by source and SIGNOR curated interactions for FAM71D Gene

Drugs & Compounds for FAM71D Gene

No Compound Related Data Available

Transcripts for FAM71D Gene

mRNA/cDNA for FAM71D Gene

(3) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(20) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FAM71D Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM71D

Alternative Splicing Database (ASD) splice patterns (SP) for FAM71D Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8

Relevant External Links for FAM71D Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAM71D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM71D Gene

mRNA differential expression in normal tissues according to GTEx for FAM71D Gene

This gene is overexpressed in Testis (x36.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM71D Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM71D Gene:


SOURCE GeneReport for Unigene cluster for FAM71D Gene:


Evidence on tissue expression from TISSUES for FAM71D Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with FAM71D: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM71D Gene

Orthologs for FAM71D Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM71D Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAM71D 34 33
  • 98.82 (n)
(Canis familiaris)
Mammalia FAM71D 34 33
  • 82.41 (n)
(Bos Taurus)
Mammalia FAM71D 34 33
  • 81.54 (n)
(Mus musculus)
Mammalia Fam71d 16 34 33
  • 74.77 (n)
(Rattus norvegicus)
Mammalia Fam71d 33
  • 73.61 (n)
(Ornithorhynchus anatinus)
Mammalia FAM71D 34
  • 54 (a)
(Gallus gallus)
Aves FAM71D 34
  • 32 (a)
(Anolis carolinensis)
Reptilia FAM71D 34
  • 48 (a)
Species where no ortholog for FAM71D 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 FAM71D Gene

Gene Tree for FAM71D (if available)
Gene Tree for FAM71D (if available)
Evolutionary constrained regions (ECRs) for FAM71D: view image

Paralogs for FAM71D Gene

(1) SIMAP similar genes for FAM71D Gene using alignment to 7 proteins:

  • E9PM27_HUMAN
  • G3V4K8_HUMAN
  • H0YJ27_HUMAN
genes like me logo Genes that share paralogs with FAM71D: view

Variants for FAM71D Gene

Sequence variations from dbSNP and Humsavar for FAM71D Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000152798 -- 67,224,715(+) T/C intron_variant
rs1000245495 -- 67,211,997(+) C/A intron_variant
rs1000267006 -- 67,200,952(+) T/G intron_variant
rs1000308030 -- 67,209,853(+) T/A intron_variant
rs1000310251 -- 67,207,781(+) AAAAAAAAA/AAAAAAAAAA intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM71D Gene

Variant ID Type Subtype PubMed ID
esv2751285 CNV gain 17911159
esv3581255 CNV loss 25503493
nsv1124992 CNV deletion 24896259
nsv832821 CNV gain 17160897
nsv977480 CNV duplication 23825009

Variation tolerance for FAM71D Gene

Residual Variation Intolerance Score: 23.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.80; 66.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM71D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM71D Gene

Disorders for FAM71D Gene

Additional Disease Information for FAM71D

No disorders were found for FAM71D Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM71D Gene

Publications for FAM71D Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Next-generation sequencing reveals novel rare fusion events with functional implication in prostate cancer. (PMID: 24488012) Teles Alves I … Jenster G (Oncogene 2015) 3 58
  5. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. (PMID: 25277244) Katsogiannou M … Rocchi P (Molecular & cellular proteomics : MCP 2014) 3 58

Products for FAM71D Gene

Sources for FAM71D Gene

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