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FAM83E family with sequence similarity 83 member E [ Homo sapiens (human) ]

Gene ID: 54854, updated on 11-Jun-2021

Summary

Official Symbol
FAM83Eprovided by HGNC
Official Full Name
family with sequence similarity 83 member Eprovided by HGNC
Primary source
HGNC:HGNC:25972
See related
Ensembl:ENSG00000105523
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
Expression
Biased expression in stomach (RPKM 22.5), colon (RPKM 19.8) and 7 other tissues See more
Orthologs
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Genomic context

See FAM83E in Genome Data Viewer
Location:
19q13.33
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (48599961..48615239, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49103218..49118333, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene lemur tyrosine kinase 3 Neighboring gene sulfotransferase family 2B member 1 Neighboring gene Sharpr-MPRA regulatory regions 10218 and 12364 Neighboring gene sperm acrosome associated 4 Neighboring gene ribosomal protein L18 Neighboring gene sphingosine kinase 2 Neighboring gene D-box binding PAR bZIP transcription factor

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

Associated conditions

Description Tests
Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.
GeneReviews: Not available
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
GeneReviews: Not available

General gene information

Markers

Homology

Clone Names

  • FLJ20200, MGC138175, MGC138177

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
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_017708.4NP_060178.2  protein FAM83E

    See identical proteins and their annotated locations for NP_060178.2

    Status: VALIDATED

    Source sequence(s)
    AC008403, AC022154, BC111970, CD722642, DB200401, DB209905
    Consensus CDS
    CCDS42587.1
    UniProtKB/Swiss-Prot
    Q2M2I3
    Related
    ENSP00000263266.2, ENST00000263266.4
    Conserved Domains (1) summary
    pfam07894
    Location:16289
    DUF1669; Protein of unknown function (DUF1669)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    48599961..48615239 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451561.1XP_024307329.1  protein FAM83E isoform X1

    Conserved Domains (1) summary
    pfam07894
    Location:16289
    DUF1669; Protein of unknown function (DUF1669)
  2. XM_005259019.1XP_005259076.1  protein FAM83E isoform X1

    See identical proteins and their annotated locations for XP_005259076.1

    UniProtKB/Swiss-Prot
    Q2M2I3
    Conserved Domains (1) summary
    pfam07894
    Location:16289
    DUF1669; Protein of unknown function (DUF1669)
  3. XM_011527049.3XP_011525351.1  protein FAM83E isoform X2

    Conserved Domains (1) summary
    pfam07894
    Location:18253
    DUF1669; Protein of unknown function (DUF1669)
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