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Aliases for FAM57B Gene

Aliases for FAM57B Gene

  • Family With Sequence Similarity 57 Member B 2 3 5
  • Family With Sequence Similarity 57, Member B 2
  • Protein FAM57B 3
  • FP1188 3

External Ids for FAM57B Gene

Previous GeneCards Identifiers for FAM57B Gene

  • GC16M029944
  • GC16M027697

Summaries for FAM57B Gene

Entrez Gene Summary for FAM57B Gene

  • This gene encodes a transmembrane protein, which may be a likely target of peroxisome proliferator-activated receptor gamma (PPAR-gamma). The product of the orthologous gene in mouse is related to obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

GeneCards Summary for FAM57B Gene

FAM57B (Family With Sequence Similarity 57 Member B) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include sphingosine N-acyltransferase activity. An important paralog of this gene is FAM57A.

UniProtKB/Swiss-Prot for FAM57B Gene

  • Involved in ceramide synthesis.

Gene Wiki entry for FAM57B Gene

Additional gene information for FAM57B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM57B Gene

Genomics for FAM57B Gene

GeneHancer (GH) Regulatory Elements for FAM57B Gene

Promoters and enhancers for FAM57B 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
GH16I030052 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 -1.2 -1193 3.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ALDOA FAM57B SETD1A SRCAP NPIPB12 INO80E SMG1P5 SMG1P2 ZNF764 ZNF747
GH16I030030 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 550.3 +21.7 21684 2.7 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF48 SLC30A9 ZNF143 KLF13 DEK GC16M030027 FAM57B YPEL3 GC16P030051
GH16I030051 Enhancer 0.9 Ensembl ENCODE 550.8 +1.4 1350 1.1 ZNF639 ZNF189 JUN OSR2 ZNF335 ZSCAN21 ZSCAN23 ZNF121 ZFHX2 ZNF366 ALDOA FAM57B GC16P030051 TBX6 C16orf92 PPP4C DOC2A HIRIP3 INO80E NPIPB12
GH16I029992 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.5 +58.1 58088 4.8 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 INO80E GC16M029996 PIR37996 PIR46335 HIRIP3 SRCAP SMG1P5 SETD1A SMG1P2 ENSG00000198106
GH16I029819 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 +230.1 230098 7.5 HDGF PKNOX1 CLOCK SIN3A ZNF48 YY1 GLIS2 ZNF143 FOS RUNX3 MVP ENSG00000238045 GC16M029840 INO80E SRCAP ENSG00000260853 NPIPB12 GDPD3 ATXN2L NFATC2IP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM57B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM57B gene promoter:

Genomic Locations for FAM57B Gene

Genomic Locations for FAM57B Gene
chr16:30,024,427-30,053,012
(GRCh38/hg38)
Size:
28,586 bases
Orientation:
Minus strand
chr16:30,035,748-30,064,299
(GRCh37/hg19)

Genomic View for FAM57B Gene

Genes around FAM57B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM57B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM57B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM57B Gene

Proteins for FAM57B Gene

  • Protein details for FAM57B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q71RH2-FA57B_HUMAN
    Recommended name:
    Protein FAM57B
    Protein Accession:
    Q71RH2
    Secondary Accessions:
    • Q9H0J1

    Protein attributes for FAM57B Gene

    Size:
    274 amino acids
    Molecular mass:
    30629 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM57B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM57B Gene

Post-translational modifications for FAM57B Gene

No Post-translational modifications

No data available for DME Specific Peptides for FAM57B Gene

Domains & Families for FAM57B Gene

Gene Families for FAM57B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FAM57B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM57B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FAM57B: view

No data available for UniProtKB/Swiss-Prot for FAM57B Gene

Function for FAM57B Gene

Molecular function for FAM57B Gene

UniProtKB/Swiss-Prot Function:
Involved in ceramide synthesis.

Phenotypes From GWAS Catalog for FAM57B Gene

Gene Ontology (GO) - Molecular Function for FAM57B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050291 sphingosine N-acyltransferase activity IEA --
genes like me logo Genes that share ontologies with FAM57B: view
genes like me logo Genes that share phenotypes with FAM57B: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FAM57B Gene

Localization for FAM57B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM57B Gene

Isoform 1: Golgi apparatus membrane; Multi-pass membrane protein.
Isoform 2: Endoplasmic reticulum membrane; Multi-pass 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 FAM57B gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
golgi apparatus 3

Gene Ontology (GO) - Cellular Components for FAM57B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with FAM57B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FAM57B Gene

Pathways & Interactions for FAM57B Gene

SuperPathways for FAM57B Gene

No Data Available

Interacting Proteins for FAM57B Gene

Gene Ontology (GO) - Biological Process for FAM57B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0045599 negative regulation of fat cell differentiation IEA --
GO:0046513 ceramide biosynthetic process IEA --
genes like me logo Genes that share ontologies with FAM57B: view

No data available for Pathways by source and SIGNOR curated interactions for FAM57B Gene

Drugs & Compounds for FAM57B Gene

No Compound Related Data Available

Transcripts for FAM57B Gene

Unigene Clusters for FAM57B Gene

Family with sequence similarity 57, member B:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM57B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP1:
SP2:

Relevant External Links for FAM57B Gene

GeneLoc Exon Structure for
FAM57B
ECgene alternative splicing isoforms for
FAM57B

Expression for FAM57B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM57B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM57B Gene

This gene is overexpressed in Testis (x9.6), Brain - Cerebellum (x7.3), Brain - Cerebellar Hemisphere (x6.7), and Brain - Cortex (x4.3).

Protein differential expression in normal tissues from HIPED for FAM57B Gene

This gene is overexpressed in Retina (42.5), Ovary (13.7), and Fetal Brain (12.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FAM57B Gene



Protein tissue co-expression partners for FAM57B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM57B Gene:

FAM57B

SOURCE GeneReport for Unigene cluster for FAM57B Gene:

Hs.558560

Evidence on tissue expression from TISSUES for FAM57B Gene

  • Nervous system(4.4)
  • Eye(3.3)
genes like me logo Genes that share expression patterns with FAM57B: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM57B Gene

Orthologs for FAM57B Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM57B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM57B 33 34
  • 98.42 (n)
cow
(Bos Taurus)
Mammalia FAM57B 33 34
  • 91 (n)
mouse
(Mus musculus)
Mammalia Fam57b 33 16 34
  • 89.54 (n)
rat
(Rattus norvegicus)
Mammalia Fam57b 33
  • 89.29 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM57B 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM57B 34
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM57B 34
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32611 33
zebrafish
(Danio rerio)
Actinopterygii fam57ba 33 34
  • 67.93 (n)
fam57bb 34
  • 60 (a)
OneToMany
wufb95d07 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011200 33
  • 51.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17841 33 34
  • 51.26 (n)
Species where no ortholog for FAM57B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • dog (Canis familiaris)
  • 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)
  • 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 FAM57B Gene

ENSEMBL:
Gene Tree for FAM57B (if available)
TreeFam:
Gene Tree for FAM57B (if available)

Paralogs for FAM57B Gene

Paralogs for FAM57B Gene

(1) SIMAP similar genes for FAM57B Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with FAM57B: view

Variants for FAM57B Gene

Sequence variations from dbSNP and Humsavar for FAM57B Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1057521393 likely-benign, not specified 30,053,202(-) C/T upstream_transcript_variant
rs146025467 likely-benign, not specified 30,053,445(-) C/T upstream_transcript_variant
rs554730607 likely-benign, not specified 30,054,780(-) C/G/T upstream_transcript_variant
rs774449859 likely-benign, not specified 30,053,469(-) G/A upstream_transcript_variant
rs914905804 likely-benign, not specified 30,054,945(-) G/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM57B Gene

Variant ID Type Subtype PubMed ID
nsv1160384 CNV duplication 26073780
nsv478491 CNV novel sequence insertion 20440878

Variation tolerance for FAM57B Gene

Residual Variation Intolerance Score: 24.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.65; 65.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM57B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM57B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM57B Gene

Disorders for FAM57B Gene

Additional Disease Information for FAM57B

No disorders were found for FAM57B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM57B Gene

Publications for FAM57B Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 58
  2. Fam57b (family with sequence similarity 57, member B), a novel peroxisome proliferator-activated receptor γ target gene that regulates adipogenesis through ceramide synthesis. (PMID: 23275342) Yamashita-Sugahara Y … Okazaki Y (The Journal of biological chemistry 2013) 2 3 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. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 58
  5. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) Schizophrenia Working Group of the Psychiatric Genomics Consortium (Nature 2014) 3 58

Products for FAM57B Gene

Sources for FAM57B Gene

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