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    FAM200C family with sequence similarity 200 member C [ Homo sapiens (human) ]

    Gene ID: 63920, updated on 5-Mar-2024

    Summary

    Official Symbol
    FAM200Cprovided by HGNC
    Official Full Name
    family with sequence similarity 200 member Cprovided by HGNC
    Primary source
    HGNC:HGNC:30804
    See related
    Ensembl:ENSG00000221886 MIM:615253; AllianceGenome:HGNC:30804
    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
    ZBED8; Buster3; C5orf54
    Summary
    Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary (RPKM 4.5), endometrium (RPKM 3.6) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    5q33.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (160393148..160400054, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (160921640..160928543, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (159820155..159827061, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene cyclin J like Neighboring gene SNRPE pseudogene 1 Neighboring gene C1q and TNF related 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:159825203-159825702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:159826022-159826707 Neighboring gene MPRA-validated peak5561 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23561 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23562 Neighboring gene SLU7 homolog, splicing factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16585 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:159849111-159849667 Neighboring gene PTTG1 regulator of sister chromatid separation, securin

    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

    Phenotypes

    EBI GWAS Catalog

    Description
    Weight loss after gastric bypass is associated with a variant at 15q26.1.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    protein FAM200C
    Names
    protein ZBED8
    transposon-derived Buster3 transposase-like protein
    zinc finger BED domain-containing protein 8
    zinc finger BED-type containing 8

    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_001303251.2NP_001290180.1  protein FAM200C

      See identical proteins and their annotated locations for NP_001290180.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC091842, BC032603, BM052679
      Consensus CDS
      CCDS34283.1
      UniProtKB/Swiss-Prot
      D3DQJ9, Q8IZ13, Q9H5S8, Q9UH87
      Related
      ENSP00000428831.1, ENST00000523213.1
    2. NM_022090.5NP_071373.2  protein FAM200C

      See identical proteins and their annotated locations for NP_071373.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC091842, BC032603, BM052679, BX487983
      Consensus CDS
      CCDS34283.1
      UniProtKB/Swiss-Prot
      D3DQJ9, Q8IZ13, Q9H5S8, Q9UH87
      Related
      ENSP00000386184.3, ENST00000408953.4

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      160393148..160400054 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      160921640..160928543 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)