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Aliases for FAM114A2 Gene

Aliases for FAM114A2 Gene

  • Family With Sequence Similarity 114 Member A2 2 3 5
  • C5orf3 3 4
  • Family With Sequence Similarity 114, Member A2 2
  • Testis Tissue Sperm-Binding Protein Li 81P 3
  • Chromosome 5 Open Reading Frame 3 2
  • Protein FAM114A2 3
  • 133K02 3

External Ids for FAM114A2 Gene

Previous HGNC Symbols for FAM114A2 Gene

  • C5orf3

Previous GeneCards Identifiers for FAM114A2 Gene

  • GC05M153352
  • GC05M148512

Summaries for FAM114A2 Gene

GeneCards Summary for FAM114A2 Gene

FAM114A2 (Family With Sequence Similarity 114 Member A2) is a Protein Coding gene. Among its related pathways are HIV Life Cycle and Oncogenic MAPK signaling. Gene Ontology (GO) annotations related to this gene include purine nucleotide binding. An important paralog of this gene is FAM114A1.

Gene Wiki entry for FAM114A2 Gene

Additional gene information for FAM114A2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM114A2 Gene

Genomics for FAM114A2 Gene

GeneHancer (GH) Regulatory Elements for FAM114A2 Gene

Promoters and enhancers for FAM114A2 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
GH05J154037 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 657.4 +0.1 92 2.1 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 FAM114A2 MFAP3 GALNT10 LINC01861 ENSG00000261382 SAP30L-AS1 PIR52529
GH05J154444 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 22.8 -407.3 -407301 3.3 HDGF PKNOX1 ZFP64 ARID4B SIN3A ZNF2 IRF4 YY1 POLR2B E2F8 SAP30L-AS1 SAP30L FAM114A2 GEMIN5 MFAP3 HAND1
GH05J154752 Promoter/Enhancer 2 Ensembl ENCODE dbSUPER 9.9 -718.5 -718546 9.1 CLOCK MLX DMAP1 YY1 E2F8 ZNF143 ZNF263 SP3 MEF2D ZNF610 SAP30L-AS1 CNOT8 GEMIN5 LARP1 MIR1303 FAM114A2 GC05M154784 GC05P154730
GH05J154834 Enhancer 1.5 Ensembl ENCODE dbSUPER 9.9 -796.1 -796145 1.7 PKNOX1 FOXA2 MLX ARNT ARID4B FEZF1 ZNF2 YY1 ZNF766 ZNF213 CNOT8 SAP30L-AS1 LARP1 MFAP3 GEMIN5 FAM114A2 FAXDC2 MIR378H
GH05J154001 Enhancer 0.7 Ensembl ENCODE 17 +36.6 36603 1.8 SP1 STAT1 ZSCAN5C GABPA NR2F2 MFAP3 FAM114A2 PIR52529
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM114A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM114A2 gene promoter:
  • GATA-1
  • FOXJ2 (long isoform)
  • FOXJ2
  • SREBP-1c
  • SREBP-1b
  • SREBP-1a
  • HNF-3beta
  • Pax-6
  • E4BP4
  • LCR-F1

Genomic Locations for FAM114A2 Gene

Genomic Locations for FAM114A2 Gene
chr5:153,990,128-154,038,937
(GRCh38/hg38)
Size:
48,810 bases
Orientation:
Minus strand
chr5:153,369,688-153,418,497
(GRCh37/hg19)
Size:
48,810 bases
Orientation:
Minus strand

Genomic View for FAM114A2 Gene

Genes around FAM114A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM114A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM114A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM114A2 Gene

Proteins for FAM114A2 Gene

  • Protein details for FAM114A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRY5-F1142_HUMAN
    Recommended name:
    Protein FAM114A2
    Protein Accession:
    Q9NRY5
    Secondary Accessions:
    • B2R8D8
    • Q9H7E0

    Protein attributes for FAM114A2 Gene

    Size:
    505 amino acids
    Molecular mass:
    55468 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM114A2 Gene

Post-translational modifications for FAM114A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM114A2 Gene

Domains & Families for FAM114A2 Gene

Gene Families for FAM114A2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM114A2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM114A2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NRY5

UniProtKB/Swiss-Prot:

F1142_HUMAN :
  • Belongs to the FAM114 family.
Family:
  • Belongs to the FAM114 family.
genes like me logo Genes that share domains with FAM114A2: view

Function for FAM114A2 Gene

Gene Ontology (GO) - Molecular Function for FAM114A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017076 purine nucleotide binding NAS 10843801
genes like me logo Genes that share ontologies with FAM114A2: view
genes like me logo Genes that share phenotypes with FAM114A2: view

Animal Model Products

miRNA for FAM114A2 Gene

miRTarBase miRNAs that target FAM114A2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM114A2 Gene

Localization for FAM114A2 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 FAM114A2 gene
Compartment Confidence
cytosol 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAM114A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with FAM114A2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAM114A2 Gene

Pathways & Interactions for FAM114A2 Gene

genes like me logo Genes that share pathways with FAM114A2: view

Pathways by source for FAM114A2 Gene

Interacting Proteins for FAM114A2 Gene

Gene Ontology (GO) - Biological Process for FAM114A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with FAM114A2: view

No data available for SIGNOR curated interactions for FAM114A2 Gene

Drugs & Compounds for FAM114A2 Gene

No Compound Related Data Available

Transcripts for FAM114A2 Gene

Unigene Clusters for FAM114A2 Gene

Family with sequence similarity 114, member A2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM114A2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^
SP1: - - - - - -
SP2: -
SP3: - -
SP4: - - - - - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - - -
SP8: - - - - - - -
SP9: - - - - -
SP10: - -
SP11: - - - - -
SP12:
SP13:
SP14: - - -
SP15:

ExUns: 15 ^ 16a · 16b ^ 17 ^ 18a · 18b · 18c · 18d · 18e
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: -

Relevant External Links for FAM114A2 Gene

GeneLoc Exon Structure for
FAM114A2
ECgene alternative splicing isoforms for
FAM114A2

Expression for FAM114A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM114A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM114A2 Gene

This gene is overexpressed in Bone (27.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM114A2 Gene



Protein tissue co-expression partners for FAM114A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM114A2 Gene:

FAM114A2

SOURCE GeneReport for Unigene cluster for FAM114A2 Gene:

Hs.166551

Evidence on tissue expression from TISSUES for FAM114A2 Gene

  • Liver(4.2)
  • Nervous system(2.8)
genes like me logo Genes that share expression patterns with FAM114A2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM114A2 Gene

Orthologs for FAM114A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM114A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM114A2 34 33
  • 99.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM114A2 34 33
  • 89.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM114A2 34 33
  • 89.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam114a2 16 34 33
  • 83.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM114A2 34
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM114A2 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM114A2 34 33
  • 71 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM114A2 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam114a2 33
  • 63.14 (n)
Str.15039 33
zebrafish
(Danio rerio)
Actinopterygii si:dkey-13f9.5 33
  • 60.65 (n)
FAM114A2 34
  • 40 (a)
OneToOne
wufi43h01 33
fruit fly
(Drosophila melanogaster)
Insecta CG9590 34 33
  • 45.13 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004464 33
  • 44.7 (n)
Species where no ortholog for FAM114A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM114A2 Gene

ENSEMBL:
Gene Tree for FAM114A2 (if available)
TreeFam:
Gene Tree for FAM114A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM114A2: view image

Paralogs for FAM114A2 Gene

Paralogs for FAM114A2 Gene

(2) SIMAP similar genes for FAM114A2 Gene using alignment to 10 proteins:

  • F1142_HUMAN
  • E5RFK2_HUMAN
  • E5RGF9_HUMAN
  • E5RH43_HUMAN
  • E5RHI8_HUMAN
  • E5RHP2_HUMAN
  • E5RIK7_HUMAN
  • E5RK42_HUMAN
  • E7ESJ7_HUMAN
  • I6L9D5_HUMAN
genes like me logo Genes that share paralogs with FAM114A2: view

Variants for FAM114A2 Gene

Sequence variations from dbSNP and Humsavar for FAM114A2 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000000867 -- 153,995,558(-) A/C intron_variant
rs1000095433 -- 154,023,956(-) T/C intron_variant
rs1000181360 -- 154,025,700(-) T/C intron_variant
rs1000220564 -- 154,025,083(-) T/A intron_variant
rs1000250312 -- 154,021,029(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM114A2 Gene

Variant ID Type Subtype PubMed ID
nsv508385 CNV deletion 20534489
nsv950430 CNV duplication 24416366

Variation tolerance for FAM114A2 Gene

Residual Variation Intolerance Score: 18.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.37; 54.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM114A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM114A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM114A2 Gene

Disorders for FAM114A2 Gene

Additional Disease Information for FAM114A2

No disorders were found for FAM114A2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM114A2 Gene

Publications for FAM114A2 Gene

  1. Transcription mapping of the 5q- syndrome critical region: cloning of two novel genes and sequencing, expression, and mapping of a further six novel cDNAs. (PMID: 10843801) Boultwood J … Wainscoat JS (Genomics 2000) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. 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
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for FAM114A2 Gene

Sources for FAM114A2 Gene

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