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    FAM3B FAM3 metabolism regulating signaling molecule B [ Homo sapiens (human) ]

    Gene ID: 54097, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FAM3Bprovided by HGNC
    Official Full Name
    FAM3 metabolism regulating signaling molecule Bprovided by HGNC
    Primary source
    HGNC:HGNC:1253
    See related
    Ensembl:ENSG00000183844 MIM:608617; AllianceGenome:HGNC:1253
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    2-21; ORF9; PANDER; PRED44; C21orf11; C21orf76
    Summary
    Predicted to enable carbohydrate binding activity and cytokine activity. Involved in insulin secretion. Located in extracellular exosome. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in duodenum (RPKM 47.4), small intestine (RPKM 44.3) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM3B in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (41304242..41357727)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (39692606..39746338)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (42688728..42729654)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13329 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:42551642-42552451 Neighboring gene microRNA 3197 Neighboring gene beta-secretase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:42572358-42572858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:42572859-42573359 Neighboring gene placenta enriched 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:42594561-42595060 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:42612073-42612217 Neighboring gene NANOG hESC enhancer GRCh37_chr21:42616252-42616757 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:42646500-42647699 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:42651763-42652318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:42652319-42652873 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:42661864-42662364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18470 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr21:42731293-42732096 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18471 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:42739613-42740114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:42740714-42741402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:42741403-42742089 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 21:42745414 Neighboring gene melanoma risk locus-associated MPRA allelic enhancers 21:42746568 and 21:42746578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:42750497-42750998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:42750999-42751498 Neighboring gene MX dynamin like GTPase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18479 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:42824122-42825321 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:42830117-42830618 Neighboring gene MX dynamin like GTPase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of rare loss-of-function variants in FAM3B associated with non-syndromic orofacial clefts. Zhao H, et al. Genomics, 2023 May. PMID 37105387
    2. Mechanisms of glucose-induced secretion of pancreatic-derived factor (PANDER or FAM3B) in pancreatic beta-cells. Yang J, et al. Diabetes, 2005 Nov. PMID 16249448
    3. PANDER transgenic mice display fasting hyperglycemia and hepatic insulin resistance. Robert-Cooperman CE, et al. J Endocrinol, 2014 Mar. PMID 24468680
    4. Elevated circulating level of a cytokine, pancreatic-derived factor, is associated with metabolic syndrome components in a Chinese population. Cao X, et al. J Diabetes Investig, 2016 Jul. PMID 27181109, Free PMC Article
    5. Association of serum pancreatic derived factor (PANDER) with beta-cell dysfunction in type 2 diabetes mellitus. Shehata MM, et al. J Diabetes Complications, 2017 Apr. PMID 28161382

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of feedback regulation between FAM3B and androgen receptor driving prostate cancer progression.
      Title: Loss of feedback regulation between FAM3B and androgen receptor driving prostate cancer progression.
    2. Identification of rare loss-of-function variants in FAM3B associated with non-syndromic orofacial clefts.
      Title: Identification of rare loss-of-function variants in FAM3B associated with non-syndromic orofacial clefts.
    3. Upregulation of FAM3B Promotes Cisplatin Resistance in Gastric Cancer by Inducing Epithelial-Mesenchymal Transition.
      Title: Upregulation of FAM3B Promotes Cisplatin Resistance in Gastric Cancer by Inducing Epithelial-Mesenchymal Transition.
    4. Increased pancreatic-derived factor (PANDER) levels in gestational diabetes mellitus.
      Title: Increased pancreatic-derived factor (PANDER) levels in gestational diabetes mellitus.
    5. High FAM3B promotes progression of esophageal carcinoma via regulating the AKT-MDM2-p53 signalling axis and the epithelial-mesenchymal transition.
      Title: FAM3B promotes progression of oesophageal carcinoma via regulating the AKT-MDM2-p53 signalling axis and the epithelial-mesenchymal transition.
    6. Taken together, by activating pro-survival mechanisms FAM3B overexpression contributes to increased resistance to cell death and tumor growth in nude mice, highlighting a putative role for this cytokine in prostate cancer progression.
      Title: FAM3B/PANDER inhibits cell death and increases prostate tumor growth by modulating the expression of Bcl-2 and Bcl-X(L) cell survival genes.
    7. FAM3B overexpression contributes to increased resistance to cell death and tumor growth in nude mice.
      Title: FAM3B/PANDER inhibits cell death and increases prostate tumor growth by modulating the expression of Bcl-2 and Bcl-X(L) cell survival genes.
    8. Data suggest that serum PANDER levels are significantly elevated in patients with long-standing type 2 diabetes as compared to patients with recently diagnosed type 2 diabetes and control subjects; serum PANDER levels vary according to degree of insulin resistance.
      Title: Association of serum pancreatic derived factor (PANDER) with beta-cell dysfunction in type 2 diabetes mellitus.
    9. Circulating level of pancreatic-derived factor (PANDER) in relation to the accumulation in metabolic syndrome suggested that persons with elevated levels of PANDER were associated with an increased risk of metabolic syndrome.
      Title: Elevated circulating level of a cytokine, pancreatic-derived factor, is associated with metabolic syndrome components in a Chinese population.
    10. in-vitro and in-vivo glucose is a potent stimulator of the PANDER promoter within the liver and this response may be facilitated by ChREBP.
      Title: Hepatic nutrient and hormonal regulation of the PANcreatic-DERived factor (PANDER) promoter.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein and their associations with cancer risk.
    EBI GWAS Catalog
    Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.
    EBI GWAS Catalog
    Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cytokine activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in insulin secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in insulin secretion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM3B
    Names
    D21M16SJHU19e
    cytokine-like protein 2-21
    family with sequence similarity 3 member B
    pancreatic derived factor

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_058186.4 → NP_478066.3  protein FAM3B isoform a precursor

      See identical proteins and their annotated locations for NP_478066.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK125528, AY358459, BC057829, BF514643, BI712971
      Consensus CDS
      CCDS13671.1
      UniProtKB/Swiss-Prot
      P58499
      UniProtKB/TrEMBL
      A8MTF8
      Related
      ENSP00000350673.2, ENST00000357985.7
      Conserved Domains (1) summary
      cl19122
      Location:59 → 232
      PANDER_like; Domains similar to the Pancreatic-derived factor

    2. NM_206964.2 → NP_996847.1  protein FAM3B isoform b

      See identical proteins and their annotated locations for NP_996847.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AK125528, AY040086, AY358459, BF514643, BI712971
      Consensus CDS
      CCDS42930.1
      UniProtKB/Swiss-Prot
      P58499
      Related
      ENSP00000381642.3, ENST00000398647.7
      Conserved Domains (1) summary
      cl19122
      Location:11 → 184
      PANDER_like; Domains similar to the Pancreatic-derived factor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      41304242..41357727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529649.3 → XP_011527951.1  protein FAM3B isoform X2

      UniProtKB/TrEMBL
      A8MTF8
      Conserved Domains (1) summary
      cl19122
      Location:73 → 246
      PANDER_like; Domains similar to the Pancreatic-derived factor

    2. XM_011529648.3 → XP_011527950.3  protein FAM3B isoform X1

      Related
      ENSP00000381641.3, ENST00000398646.3

    RNA

    1. XR_007067791.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      39692606..39746338
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324689.1 → XP_054180664.1  protein FAM3B isoform X2

    2. XM_054324688.1 → XP_054180663.1  protein FAM3B isoform X1

    RNA

    1. XR_008485341.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P58499.2 GenPept UniProtKB/Swiss-Prot:P58499

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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