U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 222584, updated on 11-Apr-2024

    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 epidermal growth factor receptor signaling pathway. Located in cytoplasm and membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in skin (RPKM 10.9), esophagus (RPKM 6.8) and 12 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FAM83B in Genome Data Viewer
    Location:
    6p12.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (54846203..54945099)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (54685949..54785074)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (54711569..54809897)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986606 Neighboring gene RNA, U6 small nuclear 1023, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:54688802-54689302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:54689303-54689803 Neighboring gene KRAS proto-oncogene, GTPase pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 2673 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:54843646-54844146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:54874207-54874707 Neighboring gene uncharacterized LOC124901491 Neighboring gene hypocretin receptor 2 Neighboring gene GDNF family receptor alpha like

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ30642, MGC126677, MGC138480

    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 
    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 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001010872.3NP_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:17283
      PLDc_FAM83B_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83B
      pfam13091
      Location:139276
      PLDc_2; PLD-like domain

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      54846203..54945099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010478.2XP_016865967.1  protein FAM83B isoform X1

      UniProtKB/Swiss-Prot
      Q2M1P3, Q5T0W9, Q96DQ2
      Conserved Domains (2) summary
      cd09182
      Location:17283
      PLDc_FAM83B_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83B
      pfam13091
      Location:139276
      PLDc_2; PLD-like domain
    2. XM_006715022.4XP_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:17283
      PLDc_FAM83B_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83B
      pfam13091
      Location:139276
      PLDc_2; PLD-like domain
    3. XM_011514394.3XP_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:17283
      PLDc_FAM83B_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83B
      pfam13091
      Location:139276
      PLDc_2; PLD-like domain
    4. XM_011514395.3XP_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:17283
      PLDc_FAM83B_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83B
      pfam13091
      Location:139276
      PLDc_2; PLD-like domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      54685949..54785074
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354650.1XP_054210625.1  protein FAM83B isoform X1

      UniProtKB/Swiss-Prot
      Q2M1P3, Q5T0W9, Q96DQ2
    2. XM_054354648.1XP_054210623.1  protein FAM83B isoform X1

      UniProtKB/Swiss-Prot
      Q2M1P3, Q5T0W9, Q96DQ2
    3. XM_054354651.1XP_054210626.1  protein FAM83B isoform X1

      UniProtKB/Swiss-Prot
      Q2M1P3, Q5T0W9, Q96DQ2
    4. XM_054354649.1XP_054210624.1  protein FAM83B isoform X1

      UniProtKB/Swiss-Prot
      Q2M1P3, Q5T0W9, Q96DQ2