FAM83B family with sequence similarity 83 member B [Homo sapiens (human)] - Gene

Summary

Official Symbol: FAM83Bprovided by HGNC
Official Full Name: family with sequence similarity 83 member Bprovided by HGNC
Primary source: HGNC:HGNC:21357
See related: Ensembl:ENSG00000168143 AllianceGenome:HGNC:21357
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: C6orf143
Summary: Enables epidermal growth factor receptor binding activity; phosphatidylinositol 3-kinase binding activity; and protein kinase binding activity. Involved in cell population proliferation and positive regulation of epidermal growth factor receptor signaling pathway. Located in cytoplasm and membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in skin (RPKM 10.9), esophagus (RPKM 6.8) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p12.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (54846203..54945099)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (54685949..54785074)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (54711569..54809897)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FAM83B regulates mitochondrial metabolism and anti-apoptotic activity in pulmonary adenocarcinoma.
Title: FAM83B regulates mitochondrial metabolism and anti-apoptotic activity in pulmonary adenocarcinoma.
FAM83B promotes the invasion of primary lung adenocarcinoma via PI3K/AKT/NF-kappaB pathway.
Title: FAM83B promotes the invasion of primary lung adenocarcinoma via PI3K/AKT/NF-κB pathway.
FAM83B is involved in thyroid cancer cell differentiation and migration.
Title: FAM83B is involved in thyroid cancer cell differentiation and migration.
MicroRNA199a/b5p inhibits endometrial cancer cell metastasis and invasion by targeting FAM83B in the epithelialtomesenchymal transition signaling pathway.
Title: MicroRNA‑199a/b‑5p inhibits endometrial cancer cell metastasis and invasion by targeting FAM83B in the epithelial‑to‑mesenchymal transition signaling pathway.
FAM83B protein was increased in lung squamous cell carcinoma compared with lung adenocarcinoma or adjacent normal tissues, and that high-expression levels of FAM83B were associated with a high disease-free survival rate.
Title: FAM83B is a novel biomarker for diagnosis and prognosis of lung squamous cell carcinoma.
Suppression of PLD1 activity prevents FAM83B-mediated transformation.
Title: Hyperactivation of EGFR and downstream effector phospholipase D1 by oncogenic FAM83B.
ablation of FAM83B decreased p110alpha and AKT membrane localization, suppressed AKT phosphorylation, and diminished proliferation, AIG, and tumorigenicity in vivo.
Title: FAM83B-mediated activation of PI3K/AKT and MAPK signaling cooperates to promote epithelial cell transformation and resistance to targeted therapies.
FAM83B expression was significantly elevated in cancer and was associated with specific cancer subtypes, increased tumor grade, and decreased overall survival.
Title: FAM83B mediates EGFR- and RAS-driven oncogenic transformation.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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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
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of family with sequence similarity 83, member B (FAM83B) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AFMa124wh1 (e-PCR)
- UniSTS:10810

D11S2612 (e-PCR)
- UniSTS:70572

G09693 (e-PCR)
- UniSTS:1515

AL035202 (e-PCR)
- UniSTS:94710

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables epidermal growth factor receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatidylinositol 3-kinase catalytic subunit binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatidylinositol 3-kinase regulatory subunit binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables phospholipase D activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epidermal growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epidermal growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein FAM83B

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)

NM_001010872.3 → NP_001010872.1 protein FAM83B

See identical proteins and their annotated locations for NP_001010872.1

Status: VALIDATED

Source sequence(s)

AK024927, AK055204, AL049555, BC101628

Consensus CDS

CCDS34479.1

UniProtKB/Swiss-Prot

Q2M1P3, Q5T0W9, Q96DQ2

Related

ENSP00000304078.7, ENST00000306858.8

Conserved Domains (2) summary

cd09182
Location:17 → 283

PLDc_FAM83B_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83B

pfam13091
Location:139 → 276

PLDc_2; PLD-like domain

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

54846203..54945099

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017010478.2 → XP_016865967.1 protein FAM83B isoform X1

UniProtKB/Swiss-Prot

Q2M1P3, Q5T0W9, Q96DQ2

Conserved Domains (2) summary

cd09182
Location:17 → 283

PLDc_FAM83B_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83B

pfam13091
Location:139 → 276

PLDc_2; PLD-like domain
XM_006715022.4 → XP_006715085.1 protein FAM83B isoform X1

See identical proteins and their annotated locations for XP_006715085.1

UniProtKB/Swiss-Prot

Q2M1P3, Q5T0W9, Q96DQ2

Conserved Domains (2) summary

cd09182
Location:17 → 283

PLDc_FAM83B_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83B

pfam13091
Location:139 → 276

PLDc_2; PLD-like domain
XM_011514394.3 → XP_011512696.1 protein FAM83B isoform X1

See identical proteins and their annotated locations for XP_011512696.1

UniProtKB/Swiss-Prot

Q2M1P3, Q5T0W9, Q96DQ2

Conserved Domains (2) summary

cd09182
Location:17 → 283

PLDc_FAM83B_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83B

pfam13091
Location:139 → 276

PLDc_2; PLD-like domain
XM_011514395.3 → XP_011512697.1 protein FAM83B isoform X1

See identical proteins and their annotated locations for XP_011512697.1

UniProtKB/Swiss-Prot

Q2M1P3, Q5T0W9, Q96DQ2

Conserved Domains (2) summary

cd09182
Location:17 → 283

PLDc_FAM83B_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83B

pfam13091
Location:139 → 276

PLDc_2; PLD-like domain