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    RNF212B ring finger protein 212B [ Homo sapiens (human) ]

    Gene ID: 100507650, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RNF212Bprovided by HGNC
    Official Full Name
    ring finger protein 212Bprovided by HGNC
    Primary source
    HGNC:HGNC:20438
    See related
    Ensembl:ENSG00000215277 MIM:621020; AllianceGenome:HGNC:20438
    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
    C14orf164
    Summary
    Predicted to enable SUMO transferase activity and ubiquitin protein ligase activity. Predicted to be involved in chiasma assembly; protein sumoylation; and protein ubiquitination. Predicted to be located in chromosome. Predicted to be active in synaptonemal complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in kidney (RPKM 3.6), testis (RPKM 2.0) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RNF212B in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23185336..23273477)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17386004..17474456)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23654545..23742686)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23589263-23589793 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23592799-23593298 Neighboring gene CCAAT enhancer binding protein epsilon Neighboring gene Sharpr-MPRA regulatory region 2117 Neighboring gene solute carrier family 7 member 8 Neighboring gene RNA, U6 small nuclear 1138, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23641243-23641744 Neighboring gene uncharacterized LOC105370406 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:23667234-23668018 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:23675605-23676210 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:23706835-23707199 Neighboring gene ribosomal protein L39 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 597 Neighboring gene RNA, U6 small nuclear 1046, pseudogene Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 1 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:23748940-23749440 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:23749441-23749941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8168 Neighboring gene homeobox and leucine zipper encoding Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:23762790-23763654 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:23764306-23764618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5605 Neighboring gene BCL2L2-PABPN1 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23776901-23777734 Neighboring gene protein phosphatase 1 regulatory subunit 3E Neighboring gene H3 histone pseudogene 37 Neighboring gene BCL2 like 2

    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. A pathogenic variant in the uncharacterized RNF212B gene results in severe aneuploidy male infertility and repeated IVF failure. Gershoni M, et al. HGG Adv, 2023 Jul 13. PMID 37124137, Free PMC Article
    2. The DNA sequence and analysis of human chromosome 14. Heilig R, et al. Nature, 2003 Feb 6. PMID 12508121
    3. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A pathogenic variant in the uncharacterized RNF212B gene results in severe aneuploidy male infertility and repeated IVF failure.
      Title: A pathogenic variant in the uncharacterized RNF212B gene results in severe aneuploidy male infertility and repeated IVF failure.
    Submit: New GeneRIF Correction

    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)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SUMO transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin protein ligase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in chiasma assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in homologous chromosome pairing at meiosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in homologous chromosome pairing at meiosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in synaptonemal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in synaptonemal complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase RNF212B; RING finger protein 212B
    Names
    RING finger protein C14orf164-like
    NP_001269251.1
    NP_001357147.1
    XP_011534618.1
    XP_011534621.1
    XP_011534625.1
    XP_011534629.1
    XP_011534630.1
    XP_054231218.1
    XP_054231219.1
    XP_054231220.1
    XP_054231221.1
    XP_054231222.1

    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_001282322.3 → NP_001269251.1  E3 ubiquitin-protein ligase RNF212B

      See identical proteins and their annotated locations for NP_001269251.1

      Status: VALIDATED

      Source sequence(s)
      AL049829
      Consensus CDS
      CCDS61401.1
      UniProtKB/Swiss-Prot
      A8MTL3
      Related
      ENSP00000397830.2, ENST00000430154.7
      Conserved Domains (1) summary
      cd16747
      Location:5 → 40
      RING-HC_RNF212B; RING finger, HC subclass, found in RING finger protein 212B (RNF212B) and similar proteins

    2. NM_001370218.3 → NP_001357147.1  E3 ubiquitin-protein ligase RNF212B

      Status: VALIDATED

      Source sequence(s)
      AL049829, AL117258
      Consensus CDS
      CCDS61401.1
      UniProtKB/Swiss-Prot
      A8MTL3
      Related
      ENSP00000382794.1, ENST00000399910.5
      Conserved Domains (1) summary
      cd16747
      Location:5 → 40
      RING-HC_RNF212B; RING finger, HC subclass, found in RING finger protein 212B (RNF212B) and similar proteins

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      23185336..23273477
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536323.3 → XP_011534625.1  RING finger protein 212B isoform X3

      Conserved Domains (2) summary
      pfam14634
      Location:5 → 41
      zf-RING_5; zinc-RING finger domain
      cl01090
      Location:94 → 151
      SlyX; SlyX

    2. XM_011536316.3 → XP_011534618.1  RING finger protein 212B isoform X1

      Conserved Domains (2) summary
      pfam14634
      Location:5 → 41
      zf-RING_5; zinc-RING finger domain
      cl01090
      Location:94 → 151
      SlyX; SlyX

    3. XM_011536327.3 → XP_011534629.1  RING finger protein 212B isoform X4

      Conserved Domains (1) summary
      pfam14634
      Location:5 → 41
      zf-RING_5; zinc-RING finger domain

    4. XM_011536328.3 → XP_011534630.1  RING finger protein 212B isoform X5

    5. XM_011536319.3 → XP_011534621.1  RING finger protein 212B isoform X2

      See identical proteins and their annotated locations for XP_011534621.1

      Conserved Domains (1) summary
      pfam05600
      Location:24 → 98
      DUF773; Protein of unknown function (DUF773)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      17386004..17474456
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375245.1 → XP_054231220.1  RING finger protein 212B isoform X3

    2. XM_054375243.1 → XP_054231218.1  RING finger protein 212B isoform X1

    3. XM_054375246.1 → XP_054231221.1  RING finger protein 212B isoform X4

    4. XM_054375247.1 → XP_054231222.1  RING finger protein 212B isoform X5

    5. XM_054375244.1 → XP_054231219.1  RING finger protein 212B isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MTL3.1 GenPept UniProtKB/Swiss-Prot:A8MTL3

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials