ENSG00000070182
Homo sapiens | |
Features
| Gene ID: | ENSG00000070182 | | | | | Biological name : | SPTB | | | | | Synonyms : | P11277 / spectrin beta, erythrocytic / SPTB | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 14 | | Strand: | -1 | | Band: | q23.3 | | Gene start: | 64746283 | | Gene end: | 64879907 | | | | | Corresponding Affymetrix probe sets: | 208416_s_at (Human Genome U133 Plus 2.0 Array) 214145_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000495909
Ensembl peptide - ENSP00000451324
Ensembl peptide - ENSP00000451752
Ensembl peptide - ENSP00000374370
Ensembl peptide - ENSP00000374371
Ensembl peptide - ENSP00000374372
NCBI entrez gene - 6710
See in Manteia.
OMIM - 182870
RefSeq - XM_017021614
RefSeq - NM_000347
RefSeq - NM_001024858
RefSeq - NM_001355436
RefSeq - NM_001355437
RefSeq - XM_005268023
RefSeq - XM_011537105
RefSeq - XM_017021612
RefSeq - XM_017021613
RefSeq Peptide - NP_000338
RefSeq Peptide - NP_001020029
RefSeq Peptide - NP_001342365
RefSeq Peptide - NP_001342366
swissprot - P11277
swissprot - H0YJE6
Ensembl - ENSG00000070182
| | | | | Related genetic diseases (OMIM): | 616649 - Spherocytosis, type 2, 616649 | | | 617948 - Anemia, neonatal hemolytic, fatal or near-fatal, 617948 |
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)
Protein motifs (from Interpro)
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:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| | HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| | HP:0001878 | Hemolytic anemia | |
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| | HP:0001923 | Reticulocytosis | |
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| | HP:0002904 | Hyperbilirubinemia | |
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| | HP:0004444 | Spherocytosis | |
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Interacting proteins (from Reactome)
No match
0 s.
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