Version 5.4
| Homo sapiens Gene: DGCR14 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-1264.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | DGCR14 | ||||||||||||||||||
| Gene Name | DiGeorge syndrome critical region gene 14 | ||||||||||||||||||
| Synonyms | DGCR13; DGS-G; DGS-H; DGS-I; DGSH; DGSI; ES2; Es2el; SPOGA2; STK22B; TSK2 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000100056 | ||||||||||||||||||
| Encoded Proteins |
DiGeorge syndrome critical region gene 14
DiGeorge syndrome critical region gene 14
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
TSSK2 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008] 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. [provided by RefSeq, Jul 2008] 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. [provided by RefSeq, Jul 2008] TSSK2 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 22:19130279-19144684 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q11.21 | ||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 27 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Cross-References | |||||||||||||||||||
| SwissProt | Q96DF8 | ||||||||||||||||||
| TrEMBL | F8WEF8 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 8220 | ||||||||||||||||||
| UniGene | Hs.517407 Hs.694070 | ||||||||||||||||||
| RefSeq | NM_022719 XM_005261282 | ||||||||||||||||||
| HUGO | HGNC:16817 | ||||||||||||||||||
| OMIM | 601755 610710 | ||||||||||||||||||
| CCDS | CCDS13756 | ||||||||||||||||||
| HPRD | |||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AC004471 BC003015 BC006542 CR456344 L78010 | ||||||||||||||||||
| GenPept | AAH03015 AAH06542 AAL40039 CAG30230 | ||||||||||||||||||
| RNA Seq Atlas | 23617 8220 | ||||||||||||||||||