Aliases for FAM3B Gene

Aliases for FAM3B Gene

  • FAM3 Metabolism Regulating Signaling Molecule B 2 3 5
  • C21orf76 2 3 4
  • PANDER 2 3 4
  • Family With Sequence Similarity 3 Member B 2 3
  • Cytokine-Like Protein 2-21 3 4
  • Pancreatic-Derived Factor 2 4
  • Protein FAM3B 3 4
  • D21M16SJHU19e 2 3
  • C21orf11 3 4
  • PRED44 2 3
  • 2-21 2 3
  • ORF9 2 3
  • Chromosome 21 Open Reading Frame 11 2
  • Pancreatic Derived Factor 3
  • FAM3B 5

External Ids for FAM3B Gene

Previous HGNC Symbols for FAM3B Gene

  • C21orf11

Previous GeneCards Identifiers for FAM3B Gene

  • GC21P039262
  • GC21P041609
  • GC21P041596
  • GC21P041610
  • GC21P042676
  • GC21P028157

Summaries for FAM3B Gene

GeneCards Summary for FAM3B Gene

FAM3B (FAM3 Metabolism Regulating Signaling Molecule B) is a Protein Coding gene. Diseases associated with FAM3B include Deafness, Autosomal Recessive 17 and Deafness, Autosomal Dominant 69. Gene Ontology (GO) annotations related to this gene include cytokine activity. An important paralog of this gene is FAM3C.

UniProtKB/Swiss-Prot Summary for FAM3B Gene

  • Induces apoptosis of alpha and beta cells in a dose- and time-dependent manner.

Gene Wiki entry for FAM3B Gene

Additional gene information for FAM3B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM3B Gene

Genomics for FAM3B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM3B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J041316 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 653.3 +12.9 12915 2.1 TAF1 EZH2 NFE2 GABPB1 SIN3A EGR1 ELF1 FAM3B MX2 MX1 piR-53207
GH21J041320 Enhancer 1.3 FANTOM5 Ensembl ENCODE 41.1 +18.4 18364 3.9 HNRNPL GATAD2A TFE3 SOX13 NFKBIZ RCOR2 FOXA1 RBFOX2 RXRB IRF2 FAM3B PRDM15 piR-53207 MX2
GH21J041325 Enhancer 0.8 Ensembl ENCODE 34.2 +21.8 21820 2.1 HNRNPL GATAD2A TFE3 SOX13 TCF7 ZKSCAN8 FOXA2 KAT7 GABPB1 HNF4A FAM3B TMPRSS2 piR-53207 MX2
GH21J041318 Enhancer 0.4 Ensembl ENCODE 50 +14.9 14896 1.4 CREB1 piR-53207 FAM3B MX2
GH21J041496 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.7 +199.6 199581 14.6 REST ZIC2 SP1 EZH2 GTF2F1 SOX13 ZFX SP2 TCF7 CTCF TMPRSS2 MX2 ENSG00000207503 FAM3B ABCG1 lnc-RIPK4-5 lnc-RIPK4-6 MX1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM3B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM3B

Top Transcription factor binding sites by QIAGEN in the FAM3B gene promoter:
  • CREB
  • deltaCREB
  • NF-kappaB
  • NF-kappaB1
  • STAT1

Genomic Locations for FAM3B Gene

Genomic Locations for FAM3B Gene
53,516 bases
Plus strand
53,516 bases
Plus strand

Genomic View for FAM3B Gene

Genes around FAM3B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM3B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM3B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM3B Gene

Proteins for FAM3B Gene

  • Protein details for FAM3B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein FAM3B
    Protein Accession:

    Protein attributes for FAM3B Gene

    235 amino acids
    Molecular mass:
    25982 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM3B Gene


neXtProt entry for FAM3B Gene

Post-translational modifications for FAM3B Gene

  • 2 N-termini have been observed in the mature protein: the first at Glu-30, resulting from signal peptide cleavage, the second at Ser-46.
  • O-glycosylated.
  • Glycosylation at Asn120 and Asn208
  • Modification sites at PhosphoSitePlus

Other Protein References for FAM3B Gene

Protein Products

  • Abcam proteins for FAM3B

No data available for DME Specific Peptides for FAM3B Gene

Domains & Families for FAM3B Gene

Gene Families for FAM3B Gene

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

Protein Domains for FAM3B Gene


Suggested Antigen Peptide Sequences for FAM3B Gene

GenScript: Design optimal peptide antigens:
  • Pancreatic-derived factor (FAM3B_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the FAM3 family.
  • Belongs to the FAM3 family.
genes like me logo Genes that share domains with FAM3B: view

Function for FAM3B Gene

Molecular function for FAM3B Gene

UniProtKB/Swiss-Prot Function:
Induces apoptosis of alpha and beta cells in a dose- and time-dependent manner.

Phenotypes From GWAS Catalog for FAM3B Gene

Gene Ontology (GO) - Molecular Function for FAM3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity NAS 12160727
genes like me logo Genes that share ontologies with FAM3B: view
genes like me logo Genes that share phenotypes with FAM3B: view

Animal Models for FAM3B Gene

MGI Knock Outs for FAM3B:

Animal Model Products

  • Taconic Biosciences Mouse Models for FAM3B

CRISPR Products

miRNA for FAM3B Gene

miRTarBase miRNAs that target FAM3B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM3B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAM3B Gene

Localization for FAM3B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM3B Gene

Secreted. Note=Present in insulin secretory granules and likely cosecreted with insulin. Localized in discrete vesicular and perinuclear structure.

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 FAM3B gene
Compartment Confidence
extracellular 5
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1
peroxisome 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAM3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 12160727
GO:0005615 extracellular space IEA --
GO:0070062 extracellular exosome HDA 19199708
genes like me logo Genes that share ontologies with FAM3B: view

Pathways & Interactions for FAM3B Gene

PathCards logo

SuperPathways for FAM3B Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007165 signal transduction IEA --
GO:0030073 insulin secretion IEA,IDA 12160727
GO:0042593 glucose homeostasis IEA --
genes like me logo Genes that share ontologies with FAM3B: view

No data available for Pathways by source and SIGNOR curated interactions for FAM3B Gene

Drugs & Compounds for FAM3B Gene

No Compound Related Data Available

Transcripts for FAM3B Gene

mRNA/cDNA for FAM3B Gene

11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM3B

Alternative Splicing Database (ASD) splice patterns (SP) for FAM3B Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d
SP1: - -
SP2: - - -
SP3: -

Relevant External Links for FAM3B Gene

GeneLoc Exon Structure for

Expression for FAM3B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM3B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM3B Gene

This gene is overexpressed in Pancreas (x15.4), Stomach (x6.2), Small Intestine - Terminal Ileum (x6.1), Esophagus - Mucosa (x4.8), Minor Salivary Gland (x4.7), and Bladder (x4.6).

Protein differential expression in normal tissues from HIPED for FAM3B Gene

This gene is overexpressed in Oral epithelium (26.4), Milk (10.7), Pancreatic juice (6.3), and Salivary gland (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM3B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM3B

SOURCE GeneReport for Unigene cluster for FAM3B Gene:


mRNA Expression by UniProt/SwissProt for FAM3B Gene:

Tissue specificity: Highly expressed in the pancreas. Also found in the colon, kidney, prostate, small intestine and testis.

Evidence on tissue expression from TISSUES for FAM3B Gene

  • Pancreas(3.1)
  • Stomach(2.6)
  • Intestine(2.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with FAM3B: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM3B Gene

Orthologs for FAM3B Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM3B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAM3B 30 31
  • 99.57 (n)
(Bos Taurus)
Mammalia FAM3B 30 31
  • 82.76 (n)
(Canis familiaris)
Mammalia FAM3B 30 31
  • 79.89 (n)
(Mus musculus)
Mammalia Fam3b 30 17 31
  • 79.02 (n)
(Rattus norvegicus)
Mammalia Fam3b 30
  • 77.07 (n)
(Ornithorhynchus anatinus)
Mammalia FAM3B 31
  • 73 (a)
(Monodelphis domestica)
Mammalia FAM3B 31
  • 65 (a)
(Gallus gallus)
Aves FAM3B 30 31
  • 67.7 (n)
(Anolis carolinensis)
Reptilia FAM3B 31
  • 58 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam3b 30
  • 58.7 (n)
(Danio rerio)
Actinopterygii si:dkeyp-67f1.2 31
  • 21 (a)
(Caenorhabditis elegans)
Secernentea M70.4 31
  • 8 (a)
Y73B3A.3 31
  • 8 (a)
Species where no ortholog for FAM3B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)

Evolution for FAM3B Gene

Gene Tree for FAM3B (if available)
Gene Tree for FAM3B (if available)
Evolutionary constrained regions (ECRs) for FAM3B: view image

Paralogs for FAM3B Gene

Paralogs for FAM3B Gene

(3) SIMAP similar genes for FAM3B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FAM3B: view

Variants for FAM3B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM3B Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
710984 Benign: not provided 41,323,076(+) G/A INTRON_VARIANT
714834 Benign: not provided 41,322,951(+) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
769132 Benign: not provided 41,323,026(+) C/G SYNONYMOUS_VARIANT,INTRON_VARIANT
rs2838012 - p.Val14Met

Additional dbSNP identifiers (rs#s) for FAM3B Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM3B Gene

Variant ID Type Subtype PubMed ID
esv2723486 CNV deletion 23290073
esv274983 CNV loss 21479260
esv3647058 CNV loss 21293372
esv3647059 CNV loss 21293372
esv3647060 CNV gain 21293372
esv3647061 CNV gain 21293372
nsv1057981 CNV loss 25217958
nsv834102 CNV loss 17160897

Variation tolerance for FAM3B Gene

Residual Variation Intolerance Score: 78.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.58; 56.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM3B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM3B Gene

Disorders for FAM3B Gene

MalaCards: The human disease database

(3) MalaCards diseases for FAM3B Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal recessive 17
  • dfnb17
deafness, autosomal dominant 69
  • dfna69
  • varicella
- elite association - COSMIC cancer census association via MalaCards
Search FAM3B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FAM3B

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FAM3B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM3B Gene

Publications for FAM3B Gene

  1. Structure-function studies of PANDER, an islet specific cytokine inducing cell death of insulin-secreting beta cells. (PMID: 16114871) Yang J … Wolf BA (Biochemistry 2005) 3 4 23
  2. Cloning, expression, and initial characterization of a novel cytokine-like gene family. (PMID: 12160727) Zhu Y … Young PR (Genomics 2002) 3 4 23
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  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
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4

Products for FAM3B Gene

Sources for FAM3B Gene