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Aliases for FAM171A2 Gene

Aliases for FAM171A2 Gene

  • Family With Sequence Similarity 171 Member A2 2 3 5
  • Family With Sequence Similarity 171, Member A2 2

External Ids for FAM171A2 Gene

Previous GeneCards Identifiers for FAM171A2 Gene

  • GC17M039788
  • GC17M042430
  • GC17M038196

Summaries for FAM171A2 Gene

GeneCards Summary for FAM171A2 Gene

FAM171A2 (Family With Sequence Similarity 171 Member A2) is a Protein Coding gene. An important paralog of this gene is FAM171A1.

Additional gene information for FAM171A2 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 FAM171A2 Gene

Genomics for FAM171A2 Gene

GeneHancer (GH) Regulatory Elements for FAM171A2 Gene

Promoters and enhancers for FAM171A2 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
GH17I044359 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 555 +1.7 1729 4.5 SIN3A GLIS2 ZNF143 ATF7 SP3 ZNF592 RFX3 GLIS1 KDM1A WT1 FAM171A2 GRN KIF18B FAM187A GC17P044353 GC17P044352
GH17I045143 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.8 -784.1 -784072 9.6 CLOCK MLX FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 HEXIM1 ENSG00000276728 GC17M045149 ENSG00000262372 ASB16-AS1 UBTF TMUB2 ENSG00000224505 LINC02210 MAP3K14-AS1
GH17I045157 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.8 -796.6 -796573 5.4 ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 ENSG00000224505 HEXIM2 ENSG00000262372 UBTF TMUB2 ASB16-AS1 MAP3K14-AS1 EFTUD2 ACBD4 PLCD3
GH17I044013 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.8 +349.2 349175 1.8 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 TMEM101 ASB16-AS1 UBTF HMGN1P29 DHX8 TMUB2 MEOX1 MPP2 LINC00910 NAGS
GH17I044389 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 11.7 -26.4 -26395 1.6 HNRNPUL1 ARNT TCF12 ZNF766 GATA2 NCOA1 REST ZNF592 GMEB1 SMARCA4 ITGA2B ASB16-AS1 DHX8 UBTF TMUB2 ENSG00000224505 FAM171A2 SLC25A39 HEXIM2 RN7SL258P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM171A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM171A2 gene promoter:

Genomic Locations for FAM171A2 Gene

Genomic Locations for FAM171A2 Gene
chr17:44,353,215-44,363,875
(GRCh38/hg38)
Size:
10,661 bases
Orientation:
Minus strand
chr17:42,430,583-42,441,243
(GRCh37/hg19)

Genomic View for FAM171A2 Gene

Genes around FAM171A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM171A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM171A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM171A2 Gene

Proteins for FAM171A2 Gene

  • Protein details for FAM171A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8MVW0-F1712_HUMAN
    Recommended name:
    Protein FAM171A2
    Protein Accession:
    A8MVW0
    Secondary Accessions:
    • A8MQB4

    Protein attributes for FAM171A2 Gene

    Size:
    826 amino acids
    Molecular mass:
    87435 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM171A2 Gene

Post-translational modifications for FAM171A2 Gene

  • Ubiquitination at Lys258
  • Glycosylation at posLast=6666, posLast=201201, posLast=221221, and posLast=265265
  • Modification sites at PhosphoSitePlus

Other Protein References for FAM171A2 Gene

No data available for DME Specific Peptides for FAM171A2 Gene

Domains & Families for FAM171A2 Gene

Gene Families for FAM171A2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for FAM171A2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM171A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A8MVW0

UniProtKB/Swiss-Prot:

F1712_HUMAN :
  • Belongs to the FAM171 family.
Family:
  • Belongs to the FAM171 family.
genes like me logo Genes that share domains with FAM171A2: view

Function for FAM171A2 Gene

Phenotypes From GWAS Catalog for FAM171A2 Gene

Phenotypes for FAM171A2 Gene

genes like me logo Genes that share phenotypes with FAM171A2: view

Animal Model Products

miRNA for FAM171A2 Gene

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM171A2 Gene

Localization for FAM171A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM171A2 Gene

Membrane; Single-pass type I membrane protein.

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 FAM171A2 gene
Compartment Confidence
plasma membrane 2
extracellular 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for FAM171A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FAM171A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FAM171A2 Gene

Pathways & Interactions for FAM171A2 Gene

SuperPathways for FAM171A2 Gene

No Data Available

Interacting Proteins for FAM171A2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000293443%0d%0a9606.ENSP00000248996%0d%0a
Selected Interacting proteins: A8MVW0-F1712_HUMAN ENSP00000293443 for FAM171A2 Gene via IID STRING

Gene Ontology (GO) - Biological Process for FAM171A2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM171A2 Gene

Drugs & Compounds for FAM171A2 Gene

No Compound Related Data Available

Transcripts for FAM171A2 Gene

mRNA/cDNA for FAM171A2 Gene

Unigene Clusters for FAM171A2 Gene

Family with sequence similarity 171, member A2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM171A2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: - -
SP2: -
SP3:
SP4: -

Relevant External Links for FAM171A2 Gene

GeneLoc Exon Structure for
FAM171A2
ECgene alternative splicing isoforms for
FAM171A2

Expression for FAM171A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM171A2 Gene

mRNA differential expression in normal tissues according to GTEx for FAM171A2 Gene

This gene is overexpressed in Brain - Cortex (x5.6), Brain - Frontal Cortex (BA9) (x4.7), Brain - Anterior cingulate cortex (BA24) (x4.4), and Brain - Cerebellum (x4.0).

Protein differential expression in normal tissues from HIPED for FAM171A2 Gene

This gene is overexpressed in Fetal Brain (46.5) and Retina (12.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM171A2 Gene



Protein tissue co-expression partners for FAM171A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM171A2 Gene:

FAM171A2

SOURCE GeneReport for Unigene cluster for FAM171A2 Gene:

Hs.154001

Evidence on tissue expression from TISSUES for FAM171A2 Gene

  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with FAM171A2: 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 FAM171A2 Gene

Orthologs for FAM171A2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM171A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM171A2 33 34
  • 98.6 (n)
cow
(Bos Taurus)
Mammalia FAM171A2 33 34
  • 91.39 (n)
dog
(Canis familiaris)
Mammalia FAM171A2 33 34
  • 91.11 (n)
mouse
(Mus musculus)
Mammalia Fam171a2 33 16 34
  • 87.59 (n)
rat
(Rattus norvegicus)
Mammalia Fam171a2 33
  • 87.31 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM171A2 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM171A2 34
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM171A2 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam171a2 33
  • 60.07 (n)
Str.5450 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.11903 33
zebrafish
(Danio rerio)
Actinopterygii LOC556398 33
  • 53.78 (n)
fam171a2 34
  • 42 (a)
OneToMany
FAM171A2 (2 of 2) 34
  • 40 (a)
OneToMany
Species where no ortholog for FAM171A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 FAM171A2 Gene

ENSEMBL:
Gene Tree for FAM171A2 (if available)
TreeFam:
Gene Tree for FAM171A2 (if available)

Paralogs for FAM171A2 Gene

Paralogs for FAM171A2 Gene

(2) SIMAP similar genes for FAM171A2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with FAM171A2: view

Variants for FAM171A2 Gene

Sequence variations from dbSNP and Humsavar for FAM171A2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs116547342 likely-benign, Frontotemporal dementia 44,353,078(-) G/A downstream_transcript_variant
rs5848 risk-factor, benign, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO, Frontotemporal dementia 44,352,876(-) C/T downstream_transcript_variant
rs768223928 benign, not specified 44,352,758(-) A/T downstream_transcript_variant
rs1000581693 -- 44,355,169(-) G/GG coding_sequence_variant, frameshift
rs1000683038 -- 44,358,041(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM171A2 Gene

Variant ID Type Subtype PubMed ID
dgv5606n54 CNV loss 21841781
dgv5607n54 CNV loss 21841781
dgv5608n54 CNV gain 21841781
dgv5609n54 CNV loss 21841781
esv26446 CNV loss 19812545
nsv1072738 CNV deletion 25765185
nsv1118760 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159
nsv575090 CNV loss 21841781
nsv575091 CNV gain+loss 21841781
nsv978429 CNV duplication 23825009

Variation tolerance for FAM171A2 Gene

Gene Damage Index Score: 4.78; 66.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM171A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM171A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM171A2 Gene

Disorders for FAM171A2 Gene

Additional Disease Information for FAM171A2

No disorders were found for FAM171A2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM171A2 Gene

Publications for FAM171A2 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators. (PMID: 27880917) St-Denis N … Gingras AC (Cell reports 2016) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta GD … Pelletier L (Cell 2015) 3 58

Products for FAM171A2 Gene

Sources for FAM171A2 Gene

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