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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.

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

Regulatory Elements for FAM171B Gene

Enhancers for FAM171B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G186574 1.5 FANTOM5 Ensembl ENCODE 10.3 -118.2 -118203 2.5 ELF3 PKNOX1 CBX3 TBL1XR1 INSM2 SIN3A FEZF1 RAD21 ZEB1 RARA ITGAV FAM171B ENSG00000227227 ENSG00000259915 DPRXP1
GH02G186721 0.7 ENCODE 20.2 +28.1 28128 0.9 MTA2 HLF CEBPB CEBPG TBX21 ZBTB40 GABPA PRDM6 TARDBP CEBPA FAM171B ENSG00000227227 ZSWIM2
GH02G186693 0.9 ENCODE 14.5 +0.7 682 2.4 FUS ZSCAN4 ZNF76 SIN3A ZNF2 ZNF48 GLIS2 EGR1 ZNF366 FOS FAM171B ITGAV TFPI ENSG00000227227
GH02G187580 1.1 Ensembl ENCODE 10.9 +887.2 887235 1.7 ELF3 HNRNPUL1 PKNOX1 CBX3 ARNT ZSCAN9 RAD21 CHAMP1 KAT2B YY1 TFPI FAM171B LOC105373788
GH02G186848 0.9 ENCODE 12.8 +155.3 155305 1.4 ZSCAN4 SIN3A ZNF76 BMI1 GLIS2 FOS EGR2 SP3 ZEB2 ZNF398 FAM171B ZSWIM2 ITGAV PIR60867 GC02M187006
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM171B on UCSC Golden Path with GeneCards custom track

Promoters for FAM171B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000127467 630 2000 FUS ZSCAN4 SIN3A ZNF76 RAD21 ZNF2 ZNF48 GLIS2 ZNF366 FOS

Genomic Location for FAM171B Gene

186,693,971 bp from pter
186,765,965 bp from pter
71,995 bases
Plus strand

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

    Protein attributes for FAM171B Gene

    826 amino acids
    Molecular mass:
    92181 Da
    Quaternary structure:
    No Data Available
    • 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


neXtProt entry for FAM171B Gene

Post-translational modifications for FAM171B Gene

  • Glycosylation at Asn108, isoforms=2113, Asn213, and isoforms=2268
  • Modification sites at PhosphoSitePlus

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

Protein Domains for FAM171B Gene

Suggested Antigen Peptide Sequences for FAM171B Gene

Graphical View of Domain Structure for InterPro Entry



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

No data available for Gene Families for FAM171B Gene

Function for FAM171B Gene

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

Animal Model Products

CRISPR Products

miRNA for FAM171B Gene

Inhibitory RNA Products

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

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

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


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:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for FAM171B Gene:


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

Primer Products

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
(Pan troglodytes)
Mammalia KIAA1946 34 35
  • 99.27 (n)
(Bos Taurus)
Mammalia FAM171B 34 35
  • 90.72 (n)
(Canis familiaris)
Mammalia FAM171B 34 35
  • 87.64 (n)
(Mus musculus)
Mammalia Fam171b 34 16 35
  • 86.34 (n)
(Rattus norvegicus)
Mammalia Fam171b 34
  • 85.16 (n)
(Monodelphis domestica)
Mammalia FAM171B 35
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia FAM171B 35
  • 57 (a)
(Gallus gallus)
Aves FAM171B 34 35
  • 74.57 (n)
(Anolis carolinensis)
Reptilia FAM171B 35
  • 58 (a)
(Danio rerio)
Actinopterygii LOC561242 34
  • 53.98 (n)
march7 35
  • 40 (a)
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

Gene Tree for FAM171B (if available)
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 Sequence Context AA Info Type
rs1000076747 -- 186,727,036(+) ATTCC(C/T)TCTCT intron-variant
rs1000124305 -- 186,732,309(+) TCTCA(A/G)TGATG intron-variant
rs1000218107 -- 186,732,016(+) TATTA(C/T)AATGT intron-variant
rs1000251620 -- 186,710,281(+) GTGGT(A/G)TGTTG intron-variant
rs1000379445 -- 186,731,602(+) ACTAT(C/T)CAACT 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)

Relevant External Links for FAM171B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for FAM171B Gene

Relevant External Links for FAM171B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

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 Res. 2001) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3 64
  4. E-cadherin interactome complexity and robustness resolved by quantitative proteomics. (PMID: 25468996) Guo Z. … Zaidel-Bar R. (Sci Signal 2014) 3 64
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3 64

Products for FAM171B Gene

Sources for FAM171B Gene

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