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

Gene ID: 100507650, updated on 16-Mar-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 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. Predicted to be involved in homologous chromosome pairing at meiosis and protein sumoylation. Predicted to be active in synaptonemal complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in kidney (RPKM 3.6), testis (RPKM 2.0) and 20 other tissues See more
Orthologs
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Genomic context

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Location:
14q11.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23185336..23273477)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17386004..17474456)
105.20220307 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)

Genotypes

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
  
Process Evidence Code Pubs
involved_in homologous chromosome pairing at meiosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein sumoylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in reciprocal meiotic recombination IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in synaptonemal complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
RING finger protein 212B
Names
RING finger protein C14orf164-like

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  RING finger protein 212B

    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  RING finger protein 212B

    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_2023_10

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

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