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    FAM228B family with sequence similarity 228 member B [ Homo sapiens (human) ]

    Gene ID: 375190, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAM228Bprovided by HGNC
    Official Full Name
    family with sequence similarity 228 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:24736
    See related
    Ensembl:ENSG00000219626 AllianceGenome:HGNC:24736
    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
    Broad expression in testis (RPKM 11.8), fat (RPKM 6.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM228B in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (24076833..24169638)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (24111512..24204345)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (24299703..24392507)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11225 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:24276709-24276900 Neighboring gene Sharpr-MPRA regulatory region 5215 Neighboring gene RNA, U6 small nuclear 370, pseudogene Neighboring gene FKBP prolyl isomerase 1B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15422 Neighboring gene WD repeat and coiled coil containing Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:24298482-24299014 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:24299015-24299546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24305416-24306346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15424 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11227 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:24307989-24308489 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:24317825-24319024 Neighboring gene splicing factor 3b subunit 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15426 Neighboring gene tumor protein p53 inducible protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15427 Neighboring gene profilin family member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15428 Neighboring gene uncharacterized LOC105374328 Neighboring gene family with sequence similarity 228 member A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15429 Neighboring gene intersectin 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:24475575-24476774 Neighboring gene small Cajal body-specific RNA 21

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. AMPK Interactome Reveals New Function in Non-homologous End Joining DNA Repair. Chen Z, et al. Mol Cell Proteomics, 2020 Mar. PMID 31900314, Free PMC Article
    2. Identification of host proteins required for HIV infection through a functional genomic screen. Brass AL, et al. Science, 2008 Feb 15. PMID 18187620
    3. In silico APC/C substrate discovery reveals cell cycle-dependent degradation of UHRF1 and other chromatin regulators. Franks JL, et al. PLoS Biol, 2020 Dec. PMID 33306668, Free PMC Article
    4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of UPF0638 protein B (LOC375190) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ30851

    General protein information

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    Preferred Names
    protein FAM228B
    Names
    UPF0638 protein B

    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_001145710.2 → NP_001139182.1  protein FAM228B isoform a

      See identical proteins and their annotated locations for NP_001139182.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC008073, BC029459, BM969566, CN395744
      Consensus CDS
      CCDS74491.1
      UniProtKB/Swiss-Prot
      A0A087WZA1, P0C875
      Related
      ENSP00000482482.1, ENST00000615575.5

    2. NM_001291328.2 → NP_001278257.1  protein FAM228B isoform b

      See identical proteins and their annotated locations for NP_001278257.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains alternate 5' exon structure, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AC008073, BC029459, BM722814
      Consensus CDS
      CCDS77387.1
      UniProtKB/TrEMBL
      A0A087WVX1
      Related
      ENSP00000479742.1, ENST00000613899.4

    RNA

    1. NR_111929.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains alternate 5' exon structure and lacks five internal exons, compared to variant 1. This variant is represented as non-coding because it lacks most of the coding region, including the translational start codon, as found in variant 1.
      Source sequence(s)
      AC008073, BC029459, BM722814

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      24076833..24169638
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      24111512..24204345
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_198553.1: Suppressed sequence

      Description
      NM_198553.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C875.2 GenPept UniProtKB/Swiss-Prot:P0C875

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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