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DMRTC2 DMRT like family C2 [ Homo sapiens (human) ]

Gene ID: 63946, updated on 5-Mar-2024

Summary

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Official Symbol
DMRTC2provided by HGNC
Official Full Name
DMRT like family C2provided by HGNC
Primary source
HGNC:HGNC:13911
See related
Ensembl:ENSG00000142025 MIM:614806; AllianceGenome:HGNC:13911
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
Summary
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in germ cell development; regulation of transcription by RNA polymerase II; and sex differentiation. Predicted to act upstream of or within male gamete generation and positive regulation of histone H3-K9 methylation. Predicted to be located in XY body. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 14.6) See more
Orthologs
mouse all
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Genomic context

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Location:
19q13.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (41844916..41852333)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (44664392..44671814)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42349105..42356401)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 52 Neighboring gene LY6/PLAUR domain containing 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42364028-42364783 Neighboring gene ribosomal protein S19 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10673 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42373545-42374103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14685 Neighboring gene microRNA 6797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10674 Neighboring gene CD79a molecule

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. Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination. Ottolenghi C, et al. Genomics, 2002 Mar. PMID 11863363
  2. Impact of cytosine methylation on DNA binding specificities of human transcription factors. Yin Y, et al. Science, 2017 May 5. PMID 28473536, Free PMC Article
  3. A census of human transcription factors: function, expression and evolution. Vaquerizas JM, et al. Nat Rev Genet, 2009 Apr. PMID 19274049
  4. An atlas of combinatorial transcriptional regulation in mouse and man. Ravasi T, et al. Cell, 2010 Mar 5. PMID 20211142, Free PMC Article
  5. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, Free PMC Article

See all (10) 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)

Genotypes

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
NOT enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
NOT enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in heterochromatin organization IEA
Inferred from Electronic Annotation
more info
  
involved_in male meiosis I IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in sex differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatid nucleus elongation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in XY body IEA
Inferred from Electronic Annotation
more info
  
is_active_in cellular_component ND
No biological Data available
more info
  
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
doublesex- and mab-3-related transcription factor C2

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_001040283.3 → NP_001035373.1  doublesex- and mab-3-related transcription factor C2

    See identical proteins and their annotated locations for NP_001035373.1

    Status: VALIDATED

    Source sequence(s)
    AC010616, AC243967, AJ291669, DB026313
    Consensus CDS
    CCDS33034.1
    UniProtKB/Swiss-Prot
    Q8IXT2, Q8N6Q2, Q96M39, Q96SD4
    Related
    ENSP00000269945.2, ENST00000269945.8
    Conserved Domains (2) summary
    pfam00751
    Location:38 → 84
    DM; DM DNA binding domain
    pfam15791
    Location:240 → 365
    DMRT-like; Doublesex-and mab-3-related transcription factor C1 and C2

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    41844916..41852333
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027128.2 → XP_016882617.1  doublesex- and mab-3-related transcription factor C2 isoform X3

    UniProtKB/TrEMBL
    B4DX56
    Conserved Domains (2) summary
    pfam00751
    Location:38 → 84
    DM; DM DNA binding domain
    pfam15791
    Location:240 → 416
    DMRT-like; Doublesex-and mab-3-related transcription factor C1 and C2

  2. XM_017027126.3 → XP_016882615.1  doublesex- and mab-3-related transcription factor C2 isoform X3

    UniProtKB/TrEMBL
    B4DX56
    Conserved Domains (2) summary
    pfam00751
    Location:38 → 84
    DM; DM DNA binding domain
    pfam15791
    Location:240 → 416
    DMRT-like; Doublesex-and mab-3-related transcription factor C1 and C2

  3. XM_017027127.3 → XP_016882616.1  doublesex- and mab-3-related transcription factor C2 isoform X3

    UniProtKB/TrEMBL
    B4DX56
    Conserved Domains (2) summary
    pfam00751
    Location:38 → 84
    DM; DM DNA binding domain
    pfam15791
    Location:240 → 416
    DMRT-like; Doublesex-and mab-3-related transcription factor C1 and C2

  4. XM_017027125.2 → XP_016882614.1  doublesex- and mab-3-related transcription factor C2 isoform X3

    UniProtKB/TrEMBL
    B4DX56
    Related
    ENSP00000469525.1, ENST00000596827.5
    Conserved Domains (2) summary
    pfam00751
    Location:38 → 84
    DM; DM DNA binding domain
    pfam15791
    Location:240 → 416
    DMRT-like; Doublesex-and mab-3-related transcription factor C1 and C2

  5. XM_011527216.3 → XP_011525518.1  doublesex- and mab-3-related transcription factor C2 isoform X5

    Related
    ENSP00000472159.1, ENST00000601660.5
    Conserved Domains (1) summary
    pfam00751
    Location:43 → 89
    DM; DM DNA binding domain

  6. XM_017027123.2 → XP_016882612.1  doublesex- and mab-3-related transcription factor C2 isoform X1

  7. XM_017027129.2 → XP_016882618.1  doublesex- and mab-3-related transcription factor C2 isoform X4

  8. XM_017027124.3 → XP_016882613.1  doublesex- and mab-3-related transcription factor C2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    44664392..44671814
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321736.1 → XP_054177711.1  doublesex- and mab-3-related transcription factor C2 isoform X3

    UniProtKB/TrEMBL
    B4DX56

  2. XM_054321735.1 → XP_054177710.1  doublesex- and mab-3-related transcription factor C2 isoform X3

    UniProtKB/TrEMBL
    B4DX56

  3. XM_054321734.1 → XP_054177709.1  doublesex- and mab-3-related transcription factor C2 isoform X3

    UniProtKB/TrEMBL
    B4DX56

  4. XM_054321733.1 → XP_054177708.1  doublesex- and mab-3-related transcription factor C2 isoform X3

    UniProtKB/TrEMBL
    B4DX56

  5. XM_054321738.1 → XP_054177713.1  doublesex- and mab-3-related transcription factor C2 isoform X5

  6. XM_054321731.1 → XP_054177706.1  doublesex- and mab-3-related transcription factor C2 isoform X1

  7. XM_054321737.1 → XP_054177712.1  doublesex- and mab-3-related transcription factor C2 isoform X4

  8. XM_054321732.1 → XP_054177707.1  doublesex- and mab-3-related transcription factor C2 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_033052.1: Suppressed sequence

    Description
    NM_033052.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IXT2.2 GenPept UniProtKB/Swiss-Prot:Q8IXT2

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