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    FAM217B family with sequence similarity 217 member B [ Homo sapiens (human) ]

    Gene ID: 63939, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAM217Bprovided by HGNC
    Official Full Name
    family with sequence similarity 217 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:16170
    See related
    Ensembl:ENSG00000196227 AllianceGenome:HGNC:16170
    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
    C20orf177; dJ551D2.5
    Summary
    Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 13.3), testis (RPKM 5.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM217B in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (59933779..59948680)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (61718051..61732952)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (58508834..58523735)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 141 pseudogene Neighboring gene synaptonemal complex protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13091 Neighboring gene Sharpr-MPRA regulatory region 25 Neighboring gene protein phosphatase 1 regulatory subunit 3D Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:58529519-58530020 Neighboring gene cadherin 26 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:58569287-58569819 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:58611565-58612066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:58612067-58612566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18193 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:58633003-58633804 Neighboring gene long intergenic non-protein coding RNA 2910

    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. Proximity Mapping of CCP6 Reveals Its Association with Centrosome Organization and Cilium Assembly. Rodriguez-Calado S, et al. Int J Mol Sci, 2023 Jan 9. PMID 36674791, Free PMC Article
    2. Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation. Lanzafame M, et al. Nucleic Acids Res, 2021 Nov 8. PMID 34581821, Free PMC Article
    3. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
    4. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article
    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 (13) 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM217B
    Names
    uncharacterized protein C20orf177

    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_001190826.2 → NP_001177755.1  protein FAM217B isoform 1

      See identical proteins and their annotated locations for NP_001177755.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains additional 5' non-coding exons compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK074295, AK125073, AL109928, BC054002, CB242399
      Consensus CDS
      CCDS13484.1
      UniProtKB/Swiss-Prot
      B3KWH1, Q9NTA3, Q9NTX9
      UniProtKB/TrEMBL
      Q05CU2
      Related
      ENSP00000351040.3, ENST00000358293.7
      Conserved Domains (1) summary
      pfam15344
      Location:95 → 325
      FAM217; FAM217 family

    2. NM_001190827.2 → NP_001177756.1  protein FAM217B isoform 2

      See identical proteins and their annotated locations for NP_001177756.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate acceptor splice site at the 3' terminal coding exon compared to variant 1, resulting in translation initiation from an in-frame downstream AUG, and a shorter isoform (2) compared to isoform 1.
      Source sequence(s)
      AK074295, AK304220, AL109928, BC054002, CB242399
      UniProtKB/TrEMBL
      B4E2D0
      Conserved Domains (1) summary
      pfam15344
      Location:1 → 168
      FAM217; FAM217 family

    3. NM_022106.3 → NP_071389.1  protein FAM217B isoform 1

      See identical proteins and their annotated locations for NP_071389.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AK074295, AL109928, BC054002, CB242399, DB476861
      Consensus CDS
      CCDS13484.1
      UniProtKB/Swiss-Prot
      B3KWH1, Q9NTA3, Q9NTX9
      UniProtKB/TrEMBL
      Q05CU2
      Related
      ENSP00000354056.3, ENST00000360816.8
      Conserved Domains (1) summary
      pfam15344
      Location:95 → 325
      FAM217; FAM217 family

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      59933779..59948680
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      61718051..61732952
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NTX9.1 GenPept UniProtKB/Swiss-Prot:Q9NTX9

    Gene LinkOut

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

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