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Aliases for FAM69B Gene

Aliases for FAM69B Gene

  • Family With Sequence Similarity 69 Member B 2 3 5
  • C9orf136 3 4
  • Family With Sequence Similarity 69, Member B 2
  • Protein FAM69B 3
  • Pp6977 3

External Ids for FAM69B Gene

Previous GeneCards Identifiers for FAM69B Gene

  • GC09P136883
  • GC09P138726
  • GC09P139607
  • GC09P109066

Summaries for FAM69B Gene

Entrez Gene Summary for FAM69B Gene

  • This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]

GeneCards Summary for FAM69B Gene

FAM69B (Family With Sequence Similarity 69 Member B) is a Protein Coding gene. An important paralog of this gene is FAM69A.

Additional gene information for FAM69B Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM69B Gene

Genomics for FAM69B Gene

GeneHancer (GH) Regulatory Elements for FAM69B Gene

Promoters and enhancers for FAM69B 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
GH09I136712 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 559.9 +1.6 1645 4 HDAC1 SREBF2 SIN3A RARA ZNF335 ZNF121 ZNF766 GLIS2 KLF7 RXRA FAM69B EGFL7 LCN8 NPDC1 INPP5E SNAPC4 GC09M136753 SNORA17B
GH09I136711 Enhancer 1.1 FANTOM5 ENCODE 550.8 -0.8 -846 0.9 SIN3A ZNF121 GLIS2 FOS GMEB1 GLIS1 KDM1A WT1 SP7 HIC1 FAM69B AGPAT2 NPDC1 AJM1 ABCA2 LCNL1 FUT7 PAXX CCDC183 CLIC3
GH09I136642 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 16.8 -67.5 -67480 5.8 HDGF PKNOX1 CLOCK ARNT MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B LOC105376325 EGFL7 AGPAT2 FAM69B SEC16A C9orf163 MAN1B1 ARRDC1-AS1 NOTCH1 UAP1L1
GH09I136653 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.5 -50.1 -50149 17.1 HDGF HNRNPUL1 SMAD1 ATF1 ARNT TCF12 POLR2B ZNF766 GLIS2 GATA2 EGFL7 GC09M136660 HSPC324 AGPAT2 SNHG7 DPH7 EHMT1 ANAPC2 EXD3 MAN1B1
GH09I136673 Enhancer 1.1 ENCODE dbSUPER 12.5 -37.1 -37069 3.7 HNRNPUL1 ATF1 ARID4B YY1 GLIS2 ZNF213 RXRA SP5 PPARG NFIL3 SNHG7 EHMT1 AGPAT2 FAM69B SEC16A DNLZ MIR126
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM69B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM69B gene promoter:

Genomic Locations for FAM69B Gene

Genomic Locations for FAM69B Gene
chr9:136,712,570-136,724,718
(GRCh38/hg38)
Size:
12,149 bases
Orientation:
Plus strand
chr9:139,607,022-139,619,170
(GRCh37/hg19)

Genomic View for FAM69B Gene

Genes around FAM69B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM69B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM69B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM69B Gene

Proteins for FAM69B Gene

  • Protein details for FAM69B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VUD6-FA69B_HUMAN
    Recommended name:
    Protein FAM69B
    Protein Accession:
    Q5VUD6
    Secondary Accessions:
    • Q5VUD7
    • Q8N5N0
    • Q8WYU5

    Protein attributes for FAM69B Gene

    Size:
    431 amino acids
    Molecular mass:
    48583 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAL55862.1; Type=Frameshift; Positions=341, 393; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM69B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM69B Gene

Post-translational modifications for FAM69B Gene

  • Among the many cysteines in the lumenal domain, most are probably involved in disulfide bonds.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM69B Gene

No data available for DME Specific Peptides for FAM69B Gene

Domains & Families for FAM69B Gene

Gene Families for FAM69B Gene

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

Protein Domains for FAM69B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM69B Gene

Graphical View of Domain Structure for InterPro Entry

Q5VUD6

UniProtKB/Swiss-Prot:

FA69B_HUMAN :
  • Belongs to the FAM69 family.
Family:
  • Belongs to the FAM69 family.
genes like me logo Genes that share domains with FAM69B: view

Function for FAM69B Gene

Phenotypes From GWAS Catalog for FAM69B Gene

Gene Ontology (GO) - Molecular Function for FAM69B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with FAM69B: view
genes like me logo Genes that share phenotypes with FAM69B: view

Animal Model Products

  • Taconic Biosciences Mouse Models for FAM69B

miRNA for FAM69B Gene

miRTarBase miRNAs that target FAM69B

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM69B Gene

Localization for FAM69B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM69B Gene

Endoplasmic reticulum membrane; Single-pass type II 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 FAM69B gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 2
golgi apparatus 2
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM69B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FAM69B: view

Pathways & Interactions for FAM69B Gene

SuperPathways for FAM69B Gene

No Data Available

Interacting Proteins for FAM69B Gene

Gene Ontology (GO) - Biological Process for FAM69B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM69B Gene

Drugs & Compounds for FAM69B Gene

No Compound Related Data Available

Transcripts for FAM69B Gene

Unigene Clusters for FAM69B Gene

Family with sequence similarity 69, member B:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM69B Gene

No ASD Table

Relevant External Links for FAM69B Gene

GeneLoc Exon Structure for
FAM69B
ECgene alternative splicing isoforms for
FAM69B

Expression for FAM69B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM69B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM69B Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM69B Gene



Protein tissue co-expression partners for FAM69B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM69B Gene:

FAM69B

SOURCE GeneReport for Unigene cluster for FAM69B Gene:

Hs.741305

Evidence on tissue expression from TISSUES for FAM69B Gene

  • Nervous system(4.8)
  • Lung(2.8)
  • Pancreas(2.4)
genes like me logo Genes that share expression patterns with FAM69B: 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 FAM69B Gene

Orthologs for FAM69B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM69B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM69B 34 33
  • 98.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM69B 33 34
  • 87.36 (n)
cow
(Bos Taurus)
Mammalia FAM69B 33 34
  • 86.29 (n)
mouse
(Mus musculus)
Mammalia Fam69b 16 34 33
  • 85.54 (n)
rat
(Rattus norvegicus)
Mammalia Fam69b 33
  • 84.69 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM69B 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM69B 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM69B 33 34
  • 70.92 (n)
lizard
(Anolis carolinensis)
Reptilia FAM69B 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam69b 33
  • 71.77 (n)
zebrafish
(Danio rerio)
Actinopterygii fam69b 33 34
  • 62.95 (n)
Species where no ortholog for FAM69B 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM69B Gene

ENSEMBL:
Gene Tree for FAM69B (if available)
TreeFam:
Gene Tree for FAM69B (if available)

Paralogs for FAM69B Gene

Paralogs for FAM69B Gene

(1) SIMAP similar genes for FAM69B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FAM69B: view

Variants for FAM69B Gene

Sequence variations from dbSNP and Humsavar for FAM69B Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000082088 -- 136,724,284(+) C/T 3_prime_UTR_variant
rs1000134421 -- 136,723,992(+) TTT/TTTT 3_prime_UTR_variant
rs1000148518 -- 136,719,985(+) G/A intron_variant
rs1000375420 -- 136,721,406(+) A/G intron_variant
rs1000381046 -- 136,720,515(+) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM69B Gene

Variant ID Type Subtype PubMed ID
dgv13006n54 CNV loss 21841781
dgv957n27 CNV loss 19166990
esv1004940 CNV deletion 20482838
esv1163941 CNV deletion 17803354
esv2420501 CNV deletion 18987734
esv2422220 CNV deletion 17116639
esv2671283 CNV deletion 23128226
esv2739383 CNV deletion 23290073
esv2739385 CNV deletion 23290073
esv2759720 CNV loss 17122850
esv3131695 CNV deletion 24192839
esv4681 CNV loss 18987735
nsv1053781 CNV gain 25217958
nsv1075285 CNV deletion 25765185
nsv1076221 CNV deletion 25765185
nsv1118377 CNV deletion 24896259
nsv1142713 CNV deletion 24896259
nsv1153253 CNV deletion 26484159
nsv469918 CNV loss 18288195
nsv509334 CNV insertion 20534489
nsv6769 CNV insertion 18451855
nsv7436 OTHER inversion 18451855
nsv8579 CNV gain 18304495
nsv951203 CNV deletion 24416366

Variation tolerance for FAM69B Gene

Residual Variation Intolerance Score: 27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.46; 43.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM69B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM69B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM69B Gene

Disorders for FAM69B Gene

Additional Disease Information for FAM69B

No disorders were found for FAM69B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM69B Gene

Publications for FAM69B Gene

  1. A novel predicted calcium-regulated kinase family implicated in neurological disorders. (PMID: 23840464) Dudkiewicz M … Pawłowski K (PloS one 2013) 2 3 58
  2. Characterisation of the FAM69 family of cysteine-rich endoplasmic reticulum proteins. (PMID: 21334309) Tennant-Eyles AJ … Roberts RG (Biochemical and biophysical research communications 2011) 2 3 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 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 proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for FAM69B Gene

Sources for FAM69B Gene

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