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

Gene ID: 222584, updated on 6-Sep-2022

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
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Genomic context

See FAM83B in Genome Data Viewer
Location:
6p12.1
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (54846203..54945099)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (54686517..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 KRAS proto-oncogene, GTPase pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 2673 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

Homology

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
PubMed 
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
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 

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_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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    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
    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
    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
    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
    54686517..54785074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)