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Aliases for FAM171B Gene

Aliases for FAM171B Gene

  • Family With Sequence Similarity 171 Member B 2 3 5
  • KIAA1946 2 3 4
  • Family With Sequence Similarity 171, Member B 2
  • Protein FAM171B 3

External Ids for FAM171B Gene

Previous HGNC Symbols for FAM171B Gene

  • KIAA1946

Previous GeneCards Identifiers for FAM171B Gene

  • GC02P187268
  • GC02P187558
  • GC02P179418

Summaries for FAM171B Gene

GeneCards Summary for FAM171B Gene

FAM171B (Family With Sequence Similarity 171 Member B) is a Protein Coding gene. An important paralog of this gene is FAM171A1.

Additional gene information for FAM171B 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 FAM171B Gene

Genomics for FAM171B Gene

GeneHancer (GH) Regulatory Elements for FAM171B Gene

Promoters and enhancers for FAM171B 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
GH02I186693 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 564.6 +0.7 681 2.4 ZSCAN4 MZF1 ZNF76 SIN3A ZNF2 ZNF48 ZNF335 GLIS2 ZNF366 RCOR1 FAM171B ENSG00000227227 ITGAV TFPI
GH02I186848 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 12.8 +155.3 155304 1.4 ZSCAN4 ZNF76 SIN3A BMI1 ZNF335 GLIS2 ZNF143 RCOR1 FOS EGR2 ZSWIM2 FAM171B LINC01473 ENSG00000259915 ITGAV GC02M187006 PIR60867
GH02I186574 Enhancer 1.4 FANTOM5 Ensembl ENCODE 10.3 -118.2 -118202 2.5 PKNOX1 FEZF1 ETS1 ZNF766 ELK1 FOS PPARG KAT8 MAFF SMARCA4 ITGAV ENSG00000227227 FAM171B ENSG00000259915 DPRXP1
GH02I186641 Enhancer 0.8 ENCODE 11.5 -52.1 -52052 0.2 ELF3 ARID4B ZSCAN9 RAD21 ZNF143 FOS MIXL1 ZNF362 ZNF654 REST FAM171B ENSG00000227227 ITGAV
GH02I186542 Enhancer 1.3 FANTOM5 Ensembl ENCODE 6.8 -148.8 -148796 5.1 ELF3 PKNOX1 FOXA2 ZNF133 RARA FOS CREM EGR2 ZNF202 PPARG ITGAV RPL21P32 ENSG00000259915 FAM171B LOC101927196 DPRXP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM171B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM171B gene promoter:

Genomic Locations for FAM171B Gene

Genomic Locations for FAM171B Gene
chr2:186,693,971-186,765,965
(GRCh38/hg38)
Size:
71,995 bases
Orientation:
Plus strand
chr2:187,558,698-187,630,685
(GRCh37/hg19)

Genomic View for FAM171B Gene

Genes around FAM171B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM171B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM171B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM171B Gene

Proteins for FAM171B Gene

  • Protein details for FAM171B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P995-F171B_HUMAN
    Recommended name:
    Protein FAM171B
    Protein Accession:
    Q6P995
    Secondary Accessions:
    • Q53SK3
    • Q8N1Y4
    • Q8N3K1
    • Q8N970
    • Q8NB81
    • Q8TF55
    • Q8WYR8

    Protein attributes for FAM171B Gene

    Size:
    826 amino acids
    Molecular mass:
    92181 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAL57220.1; Type=Frameshift; Positions=235, 262; Evidence={ECO:0000305}; Sequence=BAC04380.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04586.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM171B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM171B Gene

Post-translational modifications for FAM171B Gene

  • Glycosylation at posLast=108108, Asn113, Asn213, and Asn268

Other Protein References for FAM171B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM171B Gene

Domains & Families for FAM171B Gene

Gene Families for FAM171B Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for FAM171B Gene

Suggested Antigen Peptide Sequences for FAM171B Gene

Graphical View of Domain Structure for InterPro Entry

Q6P995

UniProtKB/Swiss-Prot:

F171B_HUMAN :
  • Belongs to the FAM171 family.
Family:
  • Belongs to the FAM171 family.
genes like me logo Genes that share domains with FAM171B: view

Function for FAM171B Gene

Phenotypes From GWAS Catalog for FAM171B Gene

genes like me logo Genes that share phenotypes with FAM171B: view

Animal Model Products

miRNA for FAM171B 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 FAM171B Gene

Localization for FAM171B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM171B 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 FAM171B gene
Compartment Confidence
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM171B 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 FAM171B: view

Pathways & Interactions for FAM171B Gene

SuperPathways for FAM171B Gene

No Data Available

Interacting Proteins for FAM171B Gene

Selected Interacting proteins: Q6P995-F171B_HUMAN for FAM171B Gene via IID

Gene Ontology (GO) - Biological Process for FAM171B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM171B Gene

Drugs & Compounds for FAM171B Gene

No Compound Related Data Available

Transcripts for FAM171B Gene

mRNA/cDNA for FAM171B Gene

Unigene Clusters for FAM171B Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM171B Gene

No ASD Table

Relevant External Links for FAM171B Gene

GeneLoc Exon Structure for
FAM171B
ECgene alternative splicing isoforms for
FAM171B

Expression for FAM171B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM171B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM171B Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x5.3), Brain - Caudate (basal ganglia) (x4.8), Brain - Amygdala (x4.7), Brain - Frontal Cortex (BA9) (x4.6), Brain - Anterior cingulate cortex (BA24) (x4.6), Brain - Putamen (basal ganglia) (x4.1), and Brain - Cortex (x4.0).

Protein differential expression in normal tissues from HIPED for FAM171B Gene

This gene is overexpressed in Frontal cortex (33.3), Fetal Brain (18.0), and Pancreatic juice (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM171B Gene



Protein tissue co-expression partners for FAM171B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM171B Gene:

FAM171B

SOURCE GeneReport for Unigene cluster for FAM171B Gene:

Hs.28872

Evidence on tissue expression from TISSUES for FAM171B Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with FAM171B: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM171B Gene

Orthologs for FAM171B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM171B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1946 33 34
  • 99.27 (n)
cow
(Bos Taurus)
Mammalia FAM171B 33 34
  • 90.72 (n)
dog
(Canis familiaris)
Mammalia FAM171B 33 34
  • 87.64 (n)
mouse
(Mus musculus)
Mammalia Fam171b 33 16 34
  • 86.34 (n)
rat
(Rattus norvegicus)
Mammalia Fam171b 33
  • 85.16 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM171B 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM171B 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM171B 33 34
  • 74.57 (n)
lizard
(Anolis carolinensis)
Reptilia FAM171B 34
  • 58 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC561242 33
  • 53.98 (n)
march7 34
  • 40 (a)
OneToOne
Species where no ortholog for FAM171B 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)
  • 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)

Evolution for FAM171B Gene

ENSEMBL:
Gene Tree for FAM171B (if available)
TreeFam:
Gene Tree for FAM171B (if available)

Paralogs for FAM171B Gene

Paralogs for FAM171B Gene

(3) SIMAP similar genes for FAM171B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FAM171B: view

Variants for FAM171B Gene

Sequence variations from dbSNP and Humsavar for FAM171B Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000076747 -- 186,727,036(+) T/C intron_variant
rs1000124305 -- 186,732,309(+) A/G intron_variant
rs1000218107 -- 186,732,016(+) C/T intron_variant
rs1000251620 -- 186,710,281(+) G/A/T intron_variant
rs1000379445 -- 186,731,602(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM171B Gene

Variant ID Type Subtype PubMed ID
esv2759107 CNV gain 17122850

Variation tolerance for FAM171B Gene

Residual Variation Intolerance Score: 5.04% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.59; 56.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM171B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM171B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM171B Gene

Disorders for FAM171B Gene

Additional Disease Information for FAM171B

No disorders were found for FAM171B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM171B Gene

Publications for FAM171B Gene

  1. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PMID: 11853319) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 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. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators. (PMID: 27880917) St-Denis N … Gingras AC (Cell reports 2016) 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 FAM171B Gene

Sources for FAM171B Gene

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