ENSG00000174780
Homo sapiens | |
Features
| Gene ID: | ENSG00000174780 | | | | | Biological name : | SRP72 | | | | | Synonyms : | O76094 / signal recognition particle 72 / SRP72 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 4 | | Strand: | 1 | | Band: | q12 | | Gene start: | 56467336 | | Gene end: | 56503681 | | | | | Corresponding Affymetrix probe sets: | 208095_s_at (Human Genome U133 Plus 2.0 Array) 208263_at (Human Genome U133 Plus 2.0 Array) 208800_at (Human Genome U133 Plus 2.0 Array) 208801_at (Human Genome U133 Plus 2.0 Array) 208802_at (Human Genome U133 Plus 2.0 Array) 208803_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000342181
Ensembl peptide - ENSP00000425190
Ensembl peptide - ENSP00000473576
Ensembl peptide - ENSP00000495128
Ensembl peptide - ENSP00000424576
NCBI entrez gene - 6731
See in Manteia.
OMIM - 602122
RefSeq - XM_005265765
RefSeq - NM_001267722
RefSeq - NM_006947
RefSeq Peptide - NP_001254651
RefSeq Peptide - NP_008878
swissprot - O76094
swissprot - R4GNC1
swissprot - V9HWK0
swissprot - D6RDY6
Ensembl - ENSG00000174780
| | | | | Related genetic diseases (OMIM): | 614675 - Bone marrow failure syndrome 1, 614675 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
No match
Protein motifs (from Interpro)
| IPR011990 | Tetratricopeptide-like helical domain superfamily | | IPR013026 | Tetratricopeptide repeat-containing domain | | IPR013699 | Signal recognition particle, SRP72 subunit, RNA-binding | | IPR019734 | Tetratricopeptide repeat | | IPR026270 | Signal recognition particle, SRP72 subunit | | IPR031545 | Putative TPR-like repeat | | IPR036388 | Winged helix-like DNA-binding domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000365 | Hearing loss | |
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| | HP:0001915 | Aplastic anemia | |
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| | HP:0002863 | Myelodysplasia | |
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| | HP:0005528 | Bone marrow hypoplasia | |
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Interacting proteins (from Reactome)
No match
1 s.
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