Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FAM109B Gene

Aliases for FAM109B Gene

  • Family With Sequence Similarity 109 Member B 2 3 5
  • 27 KDa Inositol Polyphosphate Phosphatase Interacting Protein B 3 4
  • Inositol Polyphosphate Phosphatase-Interacting Protein B 2 3
  • Sesquipedalian-2 2 3
  • IPIP27B 3 4
  • Ses2 3 4
  • Family With Sequence Similarity 109, Member B 2

External Ids for FAM109B Gene

Previous GeneCards Identifiers for FAM109B Gene

  • GC22P040795
  • GC22P042470
  • GC22P025436

Summaries for FAM109B Gene

GeneCards Summary for FAM109B Gene

FAM109B (Family With Sequence Similarity 109 Member B) is a Protein Coding gene. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is FAM109A.

UniProtKB/Swiss-Prot for FAM109B Gene

  • Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane.

Additional gene information for FAM109B Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM109B Gene

Genomics for FAM109B Gene

Regulatory Elements for FAM109B Gene

Enhancers for FAM109B 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
GH22H042612 1.4 ENCODE dbSUPER 18.4 +540.2 540234 4 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A XRCC6 POLDIP3 RPL5P34 RRP7BP NAGA RN7SKP80 CYB5R3 FAM109B SERHL2 ATP5L2
GH22H041467 1.6 Ensembl ENCODE dbSUPER 10 -603.4 -603422 7 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 POLR3H MEI1 PHF5A TOB2 EP300 NAGA CSDC2 FAM109B ENSG00000232754 SMDT1
GH22H041379 1.6 FANTOM5 ENCODE dbSUPER 10 -692.3 -692288 4 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A YY1 FOS SP3 SP5 EP300 MEI1 POLR3H EP300-AS1 ENSG00000272834 XRCC6 PHF5A LOC100313968 ENSG00000227413 ENSG00000232754
GH22H042021 0.9 Ensembl ENCODE 11.7 -52.0 -51960 2 ELF1 ZIC2 ZNF507 FOXK2 IKZF1 EED GLIS1 NFE2 IKZF2 SPI1 SMDT1 CYP2D6 WBP2NL SLC25A5P1 SEPT3 NAGA FAM109B PHF5A EP300 TOB2
GH22H042031 0.8 ENCODE 11.6 -42.8 -42820 0 TBL1XR1 BACH1 BMI1 BATF RELA POLR2A EED ATF7 ETV6 RUNX3 SEPT3 NAGA FAM109B GC22P042034 PIR41640 SLC25A5P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM109B on UCSC Golden Path with GeneCards custom track

Promoters for FAM109B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000146709 349 801 CTCF POLR2A NR2F1 RAD21

Genomic Location for FAM109B Gene

Chromosome:
22
Start:
42,074,251 bp from pter
End:
42,079,441 bp from pter
Size:
5,191 bases
Orientation:
Plus strand

Genomic View for FAM109B Gene

Genes around FAM109B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM109B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM109B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM109B Gene

Proteins for FAM109B Gene

  • Protein details for FAM109B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ICB4-SESQ2_HUMAN
    Recommended name:
    Sesquipedalian-2
    Protein Accession:
    Q6ICB4
    Secondary Accessions:
    • Q3SXQ3
    • Q8N6L9

    Protein attributes for FAM109B Gene

    Size:
    259 amino acids
    Molecular mass:
    28338 Da
    Quaternary structure:
    • Forms homodimers and heterodimers with FAM109A. Interacts with OCRL and INPP5B.
    Miscellaneous:
    • Was named after sesquipedalian, an unnecessarily long description of a simple thing.

neXtProt entry for FAM109B Gene

Post-translational modifications for FAM109B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM109B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM109B Gene

Domains & Families for FAM109B Gene

Gene Families for FAM109B Gene

Protein Domains for FAM109B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM109B Gene

Graphical View of Domain Structure for InterPro Entry

Q6ICB4

UniProtKB/Swiss-Prot:

SESQ2_HUMAN :
  • The F&H motif, an approximately 12-13 amino-acid sequence centered around Phe and His residues, is essential for binding to OCRL and INPP5B.
  • Belongs to the sesquipedalian family.
Domain:
  • The F&H motif, an approximately 12-13 amino-acid sequence centered around Phe and His residues, is essential for binding to OCRL and INPP5B.
Family:
  • Belongs to the sesquipedalian family.
genes like me logo Genes that share domains with FAM109B: view

Function for FAM109B Gene

Molecular function for FAM109B Gene

UniProtKB/Swiss-Prot Function:
Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane.

Phenotypes From GWAS Catalog for FAM109B Gene

Gene Ontology (GO) - Molecular Function for FAM109B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21233288
GO:0042803 protein homodimerization activity IPI 21233288
genes like me logo Genes that share ontologies with FAM109B: view
genes like me logo Genes that share phenotypes with FAM109B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAM109B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM109B Gene

Localization for FAM109B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM109B Gene

Early endosome. Recycling endosome. Golgi apparatus, trans-Golgi network. Cytoplasmic vesicle, clathrin-coated vesicle. Note=Also found on macropinosomes. Not detected in late endosomes, nor in lysosomes.

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 FAM109B gene
Compartment Confidence
golgi apparatus 5
endosome 5
cytosol 4
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for FAM109B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA,IEA 21233288
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IDA 21233288
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with FAM109B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FAM109B Gene

Pathways & Interactions for FAM109B Gene

SuperPathways for FAM109B Gene

No Data Available

Interacting Proteins for FAM109B Gene

Gene Ontology (GO) - Biological Process for FAM109B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001881 receptor recycling IMP 21233288
GO:0007032 endosome organization IMP 21233288
GO:0042147 retrograde transport, endosome to Golgi IMP 21233288
genes like me logo Genes that share ontologies with FAM109B: view

No data available for Pathways by source and SIGNOR curated interactions for FAM109B Gene

Drugs & Compounds for FAM109B Gene

No Compound Related Data Available

Transcripts for FAM109B Gene

mRNA/cDNA for FAM109B Gene

Unigene Clusters for FAM109B Gene

Family with sequence similarity 109, member B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAM109B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for FAM109B Gene

No ASD Table

Relevant External Links for FAM109B Gene

GeneLoc Exon Structure for
FAM109B
ECgene alternative splicing isoforms for
FAM109B

Expression for FAM109B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM109B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM109B Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM109B Gene



Protein tissue co-expression partners for FAM109B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM109B Gene:

FAM109B

SOURCE GeneReport for Unigene cluster for FAM109B Gene:

Hs.368312

Evidence on tissue expression from TISSUES for FAM109B Gene

  • Intestine(4.1)
genes like me logo Genes that share expression patterns with FAM109B: view

Primer Products

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 FAM109B Gene

Orthologs for FAM109B Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM109B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM109B 33 34
  • 98.97 (n)
cow
(Bos Taurus)
Mammalia FAM109B 33 34
  • 86.36 (n)
dog
(Canis familiaris)
Mammalia FAM109B 33 34
  • 83.4 (n)
rat
(Rattus norvegicus)
Mammalia Fam109b 33
  • 81.6 (n)
mouse
(Mus musculus)
Mammalia Fam109b 33 16 34
  • 80.57 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM109B 34
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM109B 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM109B 34
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM109B 34
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:153733 34
  • 25 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG12393 34
  • 20 (a)
OneToMany
Species where no ortholog for FAM109B 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)
  • 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 FAM109B Gene

ENSEMBL:
Gene Tree for FAM109B (if available)
TreeFam:
Gene Tree for FAM109B (if available)

Paralogs for FAM109B Gene

Paralogs for FAM109B Gene

(1) SIMAP similar genes for FAM109B Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for FAM109B Gene

genes like me logo Genes that share paralogs with FAM109B: view

Variants for FAM109B Gene

Sequence variations from dbSNP and Humsavar for FAM109B Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000215125 -- 42,076,912(+) AGGGG(A/G)TAGTT intron-variant
rs1000227213 -- 42,073,809(+) TGCCG(A/G)TGGGT upstream-variant-2KB
rs1001370721 -- 42,077,060(+) GCCAG(C/T)GTCCA intron-variant
rs1002317807 -- 42,075,507(+) GCCTC(A/G)AAGGT intron-variant
rs1003450532 -- 42,072,479(+) ACTCA(A/C)CTTAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for FAM109B Gene

Variant ID Type Subtype PubMed ID
nsv508737 CNV insertion 20534489
nsv834210 CNV loss 17160897

Variation tolerance for FAM109B Gene

Residual Variation Intolerance Score: 79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.71; 46.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM109B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM109B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM109B Gene

Disorders for FAM109B Gene

Relevant External Links for FAM109B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM109B

No disorders were found for FAM109B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM109B Gene

Publications for FAM109B Gene

  1. The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway. (PMID: 21233288) Noakes CJ … Lowe M (Molecular biology of the cell 2011) 3 4 60
  2. Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1. (PMID: 20133602) Swan LE … De Camilli P (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 60
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 60
  4. 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 60
  5. 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 60

Products for FAM109B Gene

Sources for FAM109B Gene

Content
Loading form....