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R3HDM2 R3H domain containing 2 [ Homo sapiens (human) ]

Gene ID: 22864, updated on 26-Oct-2022

Summary

Official Symbol
R3HDM2provided by HGNC
Official Full Name
R3H domain containing 2provided by HGNC
Primary source
HGNC:HGNC:29167
See related
Ensembl:ENSG00000179912 MIM:619886; AllianceGenome:HGNC:29167
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
CAG6; PR01365
Summary
Enables RNA binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 15.1), testis (RPKM 12.9) and 25 other tissues See more
Orthologs
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Genomic context

See R3HDM2 in Genome Data Viewer
Location:
12q13.3
Exon count:
35
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57253764..57431141, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57221992..57399319, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57647547..57824826, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 225 Neighboring gene NDUFA4 mitochondrial complex associated like 2 Neighboring gene Sharpr-MPRA regulatory region 5413 Neighboring gene SH3 and cysteine rich domain 3 Neighboring gene Sharpr-MPRA regulatory region 11351 Neighboring gene RNA, U6 small nuclear 879, pseudogene Neighboring gene Sharpr-MPRA regulatory region 358 Neighboring gene inhibin subunit beta C

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

Phenotypes

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1002

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
R3H domain-containing protein 2

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_001330121.2NP_001317050.1  R3H domain-containing protein 2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1), as well as variant 2, encodes isoform 1.
    Source sequence(s)
    AB023219, AC126614, BC143605, CA429753
    Consensus CDS
    CCDS81703.1
    UniProtKB/Swiss-Prot
    Q9Y2K5
    UniProtKB/TrEMBL
    B5MCG9
    Conserved Domains (2) summary
    cd02642
    Location:168229
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:434742
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
  2. NM_001330122.2NP_001317051.1  R3H domain-containing protein 2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2), as well as variant 1, encodes isoform 1.
    Source sequence(s)
    AB023219, AC126614, AI114761, BC143605, CA429753
    Consensus CDS
    CCDS81703.1
    UniProtKB/Swiss-Prot
    Q9Y2K5
    UniProtKB/TrEMBL
    B5MCG9
    Related
    ENSP00000385169.2, ENST00000403821.6
    Conserved Domains (2) summary
    cd02642
    Location:168229
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:434742
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
  3. NM_001330123.2NP_001317052.1  R3H domain-containing protein 2 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate in-frame exon in the 5' coding region and lacks an alternate in-frame exon in the central coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AB023219, AC126614, AI114761, CA429753, HY090160
    Consensus CDS
    CCDS81704.1
    UniProtKB/Swiss-Prot
    Q9Y2K5
    UniProtKB/TrEMBL
    A0A0U1RRA6
    Related
    ENSP00000489424.1, ENST00000634871.1
    Conserved Domains (2) summary
    cd02642
    Location:176237
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:433698
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
  4. NM_001351204.2NP_001338133.1  R3H domain-containing protein 2 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5), as well as variants 6 and 7, encodes the longest isoform (4).
    Source sequence(s)
    AC126614, AC137834
    Conserved Domains (3) summary
    cd02642
    Location:168229
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:466774
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam12752
    Location:250303
    SUZ; SUZ domain
  5. NM_001351205.2NP_001338134.1  R3H domain-containing protein 2 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6), as well as variants 5 and 7, encodes the longest isoform (4).
    Source sequence(s)
    AC126614, AC137834
    Conserved Domains (3) summary
    cd02642
    Location:168229
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:466774
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam12752
    Location:250303
    SUZ; SUZ domain
  6. NM_001351206.2NP_001338135.1  R3H domain-containing protein 2 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7), as well as variants 5 and 6, encodes the longest isoform (4).
    Source sequence(s)
    AC126614, AC137834
    Conserved Domains (3) summary
    cd02642
    Location:168229
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:466774
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam12752
    Location:250303
    SUZ; SUZ domain
  7. NM_001351207.2NP_001338136.1  R3H domain-containing protein 2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC126614, AC137834
    Conserved Domains (3) summary
    cd02642
    Location:176237
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:456764
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam12752
    Location:258311
    SUZ; SUZ domain
  8. NM_001351208.2NP_001338137.1  R3H domain-containing protein 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC126614, AC137834
    Conserved Domains (3) summary
    cd02642
    Location:168229
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:448756
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam12752
    Location:250303
    SUZ; SUZ domain
  9. NM_001351209.2NP_001338138.1  R3H domain-containing protein 2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC126614, AC137834
    Conserved Domains (3) summary
    cd02642
    Location:168229
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:475740
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam12752
    Location:250303
    SUZ; SUZ domain
  10. NM_001351211.2NP_001338140.1  R3H domain-containing protein 2 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC126614, AC137834
    Conserved Domains (3) summary
    cd02642
    Location:176237
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:465730
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam12752
    Location:258311
    SUZ; SUZ domain
  11. NM_001351212.2NP_001338141.1  R3H domain-containing protein 2 isoform 9

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12), as well as variants 13-15, encodes isoform 9.
    Source sequence(s)
    AC126614, AC137834
    Conserved Domains (2) summary
    cd02642
    Location:168229
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:416724
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
  12. NM_001351213.2NP_001338142.1  R3H domain-containing protein 2 isoform 9

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13), as well as variants 12, 14, and 15, encodes isoform 9.
    Source sequence(s)
    AC126614, AC137834
    Conserved Domains (2) summary
    cd02642
    Location:168229
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:416724
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
  13. NM_001351214.2NP_001338143.1  R3H domain-containing protein 2 isoform 9

    Status: VALIDATED

    Description
    Transcript Variant: This variant (14), as well as variants 12, 13, and 15, encodes isoform 9.
    Source sequence(s)
    AC126614, AC137834
    Conserved Domains (2) summary
    cd02642
    Location:168229
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:416724
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
  14. NM_001351215.2NP_001338144.1  R3H domain-containing protein 2 isoform 9

    Status: VALIDATED

    Description
    Transcript Variant: This variant (15), as well as variants 12-14, encodes isoform 9.
    Source sequence(s)
    AC126614, AC137834
    Conserved Domains (2) summary
    cd02642
    Location:168229
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:416724
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
  15. NM_001351216.2NP_001338145.1  R3H domain-containing protein 2 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC126614, AC137834
    Conserved Domains (3) summary
    cd02642
    Location:164209
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:455720
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam12752
    Location:230283
    SUZ; SUZ domain
  16. NM_001351217.2NP_001338146.1  R3H domain-containing protein 2 isoform 11

    Status: VALIDATED

    Description
    Transcript Variant: This variant (17), as well as variant 18, encodes isoform 11.
    Source sequence(s)
    AC126614, AC137834
    Conserved Domains (2) summary
    cd02642
    Location:168229
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:425690
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
  17. NM_001351218.2NP_001338147.1  R3H domain-containing protein 2 isoform 11

    Status: VALIDATED

    Description
    Transcript Variant: This variant (18), as well as variant 17, encodes isoform 11.
    Source sequence(s)
    AC126614, AC137834
    Conserved Domains (2) summary
    cd02642
    Location:168229
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:425690
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
  18. NM_001394031.1NP_001380960.1  R3H domain-containing protein 2 isoform 12

    Status: VALIDATED

    Source sequence(s)
    AC126614, AC137834
    Consensus CDS
    CCDS91709.1
    UniProtKB/TrEMBL
    B5MCU0
    Related
    ENSP00000385839.1, ENST00000402412.6
    Conserved Domains (3) summary
    cd02642
    Location:168229
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:457722
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam12752
    Location:250303
    SUZ; SUZ domain
  19. NM_014925.5NP_055740.3  R3H domain-containing protein 2 isoform 2

    See identical proteins and their annotated locations for NP_055740.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB023219, AC126614, AI114761, CA429753
    Consensus CDS
    CCDS8937.2
    UniProtKB/Swiss-Prot
    Q3ZCT5, Q9Y2K5
    Related
    ENSP00000317903.6, ENST00000347140.7
    Conserved Domains (2) summary
    cd02642
    Location:168229
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:443708
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    57253764..57431141 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428533.1XP_047284489.1  R3H domain-containing protein 2 isoform X25

  2. XM_047428528.1XP_047284484.1  R3H domain-containing protein 2 isoform X22

    UniProtKB/TrEMBL
    B5MCU0
  3. XM_047428529.1XP_047284485.1  R3H domain-containing protein 2 isoform X22

    UniProtKB/TrEMBL
    B5MCU0
  4. XM_047428517.1XP_047284473.1  R3H domain-containing protein 2 isoform X7

  5. XM_047428527.1XP_047284483.1  R3H domain-containing protein 2 isoform X20

  6. XM_047428519.1XP_047284475.1  R3H domain-containing protein 2 isoform X11

  7. XM_047428514.1XP_047284470.1  R3H domain-containing protein 2 isoform X5

  8. XM_047428534.1XP_047284490.1  R3H domain-containing protein 2 isoform X26

  9. XM_047428532.1XP_047284488.1  R3H domain-containing protein 2 isoform X24

  10. XM_047428521.1XP_047284477.1  R3H domain-containing protein 2 isoform X14

  11. XM_047428525.1XP_047284481.1  R3H domain-containing protein 2 isoform X18

  12. XM_047428523.1XP_047284479.1  R3H domain-containing protein 2 isoform X16

  13. XM_047428510.1XP_047284466.1  R3H domain-containing protein 2 isoform X5

  14. XM_047428513.1XP_047284469.1  R3H domain-containing protein 2 isoform X5

  15. XM_047428518.1XP_047284474.1  R3H domain-containing protein 2 isoform X8

  16. XM_047428522.1XP_047284478.1  R3H domain-containing protein 2 isoform X15

  17. XM_024448885.2XP_024304653.2  R3H domain-containing protein 2 isoform X9

  18. XM_047428526.1XP_047284482.1  R3H domain-containing protein 2 isoform X19

  19. XM_047428520.1XP_047284476.1  R3H domain-containing protein 2 isoform X13

  20. XM_047428509.1XP_047284465.1  R3H domain-containing protein 2 isoform X4

  21. XM_017019020.2XP_016874509.2  R3H domain-containing protein 2 isoform X21

  22. XM_017019012.2XP_016874501.2  R3H domain-containing protein 2 isoform X12

  23. XM_047428524.1XP_047284480.1  R3H domain-containing protein 2 isoform X17

  24. XM_017019009.2XP_016874498.2  R3H domain-containing protein 2 isoform X10

  25. XM_047428516.1XP_047284472.1  R3H domain-containing protein 2 isoform X6

  26. XM_047428508.1XP_047284464.1  R3H domain-containing protein 2 isoform X3

  27. XM_047428506.1XP_047284462.1  R3H domain-containing protein 2 isoform X1

  28. XM_047428507.1XP_047284463.1  R3H domain-containing protein 2 isoform X2

  29. XM_047428511.1XP_047284467.1  R3H domain-containing protein 2 isoform X5

  30. XM_047428512.1XP_047284468.1  R3H domain-containing protein 2 isoform X5

  31. XM_047428515.1XP_047284471.1  R3H domain-containing protein 2 isoform X5

  32. XM_047428530.1XP_047284486.1  R3H domain-containing protein 2 isoform X23

  33. XM_047428535.1XP_047284491.1  R3H domain-containing protein 2 isoform X27

    Related
    ENSP00000408536.2, ENST00000441731.6
  34. XM_047428536.1XP_047284492.1  R3H domain-containing protein 2 isoform X28

    Related
    ENSP00000394676.2, ENST00000429355.6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    57221992..57399319 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)