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

Gene ID: 54097, updated on 3-Apr-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
Involved in insulin secretion. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in duodenum (RPKM 47.4), small intestine (RPKM 44.3) and 11 other tissues See more
Orthologs
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Genomic context

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Location:
21q22.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (41304242..41357727)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (39692606..39746338)
105.20220307 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
  • 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. Upregulation of FAM3B Promotes Cisplatin Resistance in Gastric Cancer by Inducing Epithelial-Mesenchymal Transition. Song C, et al. Med Sci Monit, 2020 May 22. PMID 32442162, Free PMC Article
  3. Increased pancreatic-derived factor (PANDER) levels in gestational diabetes mellitus. Koroglu N, et al. Gynecol Endocrinol, 2019 Oct. PMID 30982368
  4. FAM3B promotes progression of oesophageal carcinoma via regulating the AKT-MDM2-p53 signalling axis and the epithelial-mesenchymal transition. He SL, et al. J Cell Mol Med, 2019 Feb. PMID 30565387, Free PMC Article
  5. FAM3B/PANDER inhibits cell death and increases prostate tumor growth by modulating the expression of Bcl-2 and Bcl-X(L) cell survival genes. Maciel-Silva P, et al. BMC Cancer, 2018 Jan 22. PMID 29357840, Free PMC Article

See all (35) 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_2023_10

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

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