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RNF212 ring finger protein 212 [ Homo sapiens (human) ]

Gene ID: 285498, updated on 1-Jun-2020

Summary

Official Symbol
RNF212provided by HGNC
Official Full Name
ring finger protein 212provided by HGNC
Primary source
HGNC:HGNC:27729
See related
Ensembl:ENSG00000178222 MIM:612041
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ZHP3
Summary
This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms in this gene may influence recombination rates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
Expression
Broad expression in ovary (RPKM 1.7), testis (RPKM 1.5) and 20 other tissues See more
Orthologs

Genomic context

See RNF212 in Genome Data Viewer
Location:
4p16.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (1056248..1113794, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1050039..1107352, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene fibroblast growth factor receptor like 1 Neighboring gene uncharacterized LOC105374343 Neighboring gene protein phosphatase 2 regulatory subunit B, alpha pseudogene Neighboring gene uncharacterized LOC105374344 Neighboring gene transmembrane p24 trafficking protein 11, pseudogene Neighboring gene spondin 2 Neighboring gene uncharacterized LOC100130872 Neighboring gene uncharacterized LOC101928548

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Recombination rate quantitative trait locus 1
MedGen: C2677576 OMIM: 612042 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Sequence variants in the RNF212 gene associate with genome-wide recombination rate.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38841, FLJ42587, MGC120227, MGC120228

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SUMO transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chiasma assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
meiotic gene conversion ISS
Inferred from Sequence or Structural Similarity
more info
 
protein sumoylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein sumoylation IEA
Inferred from Electronic Annotation
more info
 
reciprocal meiotic recombination ISS
Inferred from Sequence or Structural Similarity
more info
 
synapsis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
synaptonemal complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with synaptonemal complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
probable E3 SUMO-protein ligase RNF212
Names
probable E3 SUMO-protein transferase RNF212

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_027812.2 RefSeqGene

    Range
    5231..62544
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001131034.4NP_001124506.1  probable E3 SUMO-protein ligase RNF212 isoform a

    See identical proteins and their annotated locations for NP_001124506.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC019103, AK096160, BC050356, BC101260, BG701603
    Consensus CDS
    CCDS46996.1
    UniProtKB/Swiss-Prot
    Q495C1
    Related
    ENSP00000389709.2, ENST00000433731.7
    Conserved Domains (1) summary
    cl17238
    Location:450
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
  2. NM_001193318.3NP_001180247.1  probable E3 SUMO-protein ligase RNF212 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks multiple 3' exons but has an alternate 3' exon, compared to variant 1. The resulting isoform (c) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC019103, AK096160, BC036250, BG701603
    Consensus CDS
    CCDS54704.1
    UniProtKB/Swiss-Prot
    Q495C1
    Related
    ENSP00000327481.5, ENST00000333673.5
    Conserved Domains (1) summary
    pfam14634
    Location:647
    zf-RING_5; zinc-RING finger domain
  3. NM_001366918.1NP_001353847.1  probable E3 SUMO-protein ligase RNF212 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC019103, AC092535
  4. NM_001366919.1NP_001353848.1  probable E3 SUMO-protein ligase RNF212 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC019103, AC092535
    Conserved Domains (1) summary
    cd16746
    Location:450
    RING-HC_RNF212; RING finger, HC subclass, found in RING finger protein 212 (RNF212) and similar proteins
  5. NM_194439.4NP_919420.1  probable E3 SUMO-protein ligase RNF212 isoform b

    See identical proteins and their annotated locations for NP_919420.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform b which has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC019103, AK096160, BC050356, BG701603
    Consensus CDS
    CCDS3345.1
    UniProtKB/Swiss-Prot
    Q495C1
    Related
    ENSP00000372428.5, ENST00000382968.9
    Conserved Domains (1) summary
    pfam14634
    Location:647
    zf-RING_5; zinc-RING finger domain

RNA

  1. NR_159497.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC019103, AC092535
  2. NR_159498.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC019103, AC092535
  3. NR_159499.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC019103, AC092535
  4. NR_159500.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC019103, AC092535
  5. NR_159501.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC019103, AC092535
  6. NR_159502.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC019103, AC092535
  7. NR_159503.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC019103, AC092535
  8. NR_159504.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC019103, AC092535
  9. NR_159505.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC019103, AC092535

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    1056248..1113794 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513446.1XP_011511748.1  probable E3 SUMO-protein ligase RNF212 isoform X6

    Conserved Domains (1) summary
    pfam14634
    Location:647
    zf-RING_5; zinc-RING finger domain
  2. XM_011513443.1XP_011511745.1  probable E3 SUMO-protein ligase RNF212 isoform X3

    See identical proteins and their annotated locations for XP_011511745.1

  3. XM_017008040.1XP_016863529.1  probable E3 SUMO-protein ligase RNF212 isoform X2

  4. XM_011513445.2XP_011511747.1  probable E3 SUMO-protein ligase RNF212 isoform X5

    Conserved Domains (1) summary
    pfam14634
    Location:647
    zf-RING_5; zinc-RING finger domain
  5. XM_011513439.1XP_011511741.1  probable E3 SUMO-protein ligase RNF212 isoform X2

    See identical proteins and their annotated locations for XP_011511741.1

  6. XM_017008039.1XP_016863528.1  probable E3 SUMO-protein ligase RNF212 isoform X2

  7. XM_017008041.1XP_016863530.1  probable E3 SUMO-protein ligase RNF212 isoform X7

RNA

  1. XR_002959724.1 RNA Sequence

  2. XR_924933.1 RNA Sequence

  3. XR_001741208.1 RNA Sequence

  4. XR_924937.1 RNA Sequence

  5. XR_924936.1 RNA Sequence

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