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DGCR14 DiGeorge syndrome critical region gene 14 [ Homo sapiens (human) ]

Gene ID: 8220, updated on 26-May-2016
Official Symbol
DGCR14provided by HGNC
Official Full Name
DiGeorge syndrome critical region gene 14provided by HGNC
Primary source
HGNC:HGNC:16817
See related
Ensembl:ENSG00000100056 HPRD:03452; HPRD:18586; MIM:601755; Vega:OTTHUMG00000150119
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
ES2; DGSH; DGSI; DGS-H; DGS-I; Es2el; DGCR13
Summary
This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Orthologs
Location:
22q11.21; 22q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (19130279..19144726, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19117792..19132190, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene DiGeorge syndrome critical region gene 2 Neighboring gene ribosomal protein L28 pseudogene Neighboring gene testis specific serine kinase 1A, pseudogene Neighboring gene uncharacterized LOC105377184 Neighboring gene testis specific serine kinase 2 Neighboring gene goosecoid homeobox 2 Neighboring gene long intergenic non-protein coding RNA 1311

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mRNA splicing, via spliceosome IC
Inferred by Curator
more info
PubMed 
nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Preferred Names
protein DGCR14
Names
DiGeorge syndrome critical region gene 13
DiGeorge syndrome critical region gene DGSI
DiGeorge syndrome gene H
DiGeorge syndrome gene I
Protein DGCR13
diGeorge syndrome protein H

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_008320.1 RefSeqGene

    Range
    5001..19399
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022719.2NP_073210.1  protein DGCR14

    See identical proteins and their annotated locations for NP_073210.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the protein-coding transcript.
    Source sequence(s)
    BC003015, BC069275, BM545545, DB090071, L77565
    Consensus CDS
    CCDS13756.1
    UniProtKB/Swiss-Prot
    Q96DF8
    Related
    ENSP00000252137, OTTHUMP00000196363, ENST00000252137, OTTHUMT00000316432
    Conserved Domains (1) summary
    pfam09751
    Location:34401
    Es2; Nuclear protein Es2

RNA

  1. NR_134304.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the mid-region compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC003015, BC069275, BM545545, BX419278, BX428458, DB090071, L77565

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

    Range
    19130279..19144726 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261282.3XP_005261339.1  

    Conserved Domains (1) summary
    pfam09751
    Location:34402
    Es2; Nuclear protein Es2
  2. XM_006724329.2XP_006724392.1  

    See identical proteins and their annotated locations for XP_006724392.1

    Conserved Domains (1) summary
    pfam09751
    Location:1323
    Es2; Nuclear protein Es2
  3. XM_006724331.2XP_006724394.1  

    Conserved Domains (1) summary
    pfam09751
    Location:1322
    Es2; Nuclear protein Es2
  4. XM_006724330.2XP_006724393.1  

    See identical proteins and their annotated locations for XP_006724393.1

    Conserved Domains (1) summary
    pfam09751
    Location:1323
    Es2; Nuclear protein Es2
  5. XM_011530404.1XP_011528706.1  

    Conserved Domains (1) summary
    pfam09751
    Location:34276
    Es2; Nuclear protein Es2
  6. XM_011530403.1XP_011528705.1  

    UniProtKB/TrEMBL
    F8WEF8
    Related
    ENSP00000388524, OTTHUMP00000196404, ENST00000434568, OTTHUMT00000316433
    Conserved Domains (1) summary
    pfam09751
    Location:34275
    Es2; Nuclear protein Es2
  7. XM_011530402.1XP_011528704.1  

    Conserved Domains (1) summary
    pfam09751
    Location:34276
    Es2; Nuclear protein Es2

RNA

  1. XR_937926.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 Alternate CHM1_1.1

    Range
    19117373..19131693 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)