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

Gene ID: 63920, updated on 26-Oct-2022

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
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Genomic context

See FAM200C in Genome Data Viewer
Location:
5q33.3
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (160393148..160400054, complement)
110 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 SLU7 homolog, splicing factor 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

Homology

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

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_001303251.2NP_001290180.1  protein ZBED8

    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
    Q8IZ13, Q9UH87
    Related
    ENSP00000428831.1, ENST00000523213.1
  2. NM_022090.5NP_071373.2  protein ZBED8

    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
    Q8IZ13, Q9UH87
    Related
    ENSP00000386184.3, ENST00000408953.4

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_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)