ENSG00000115657
Homo sapiens | |
Features
| Gene ID: | ENSG00000115657 | | | | | Biological name : | ABCB6 | | | | | Synonyms : | ABCB6 / ATP binding cassette subfamily B member 6 (Langereis blood group) / Q9NP58 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 2 | | Strand: | -1 | | Band: | q35 | | Gene start: | 219209766 | | Gene end: | 219219017 | | | | | Corresponding Affymetrix probe sets: | 203191_at (Human Genome U133 Plus 2.0 Array) 203192_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000392988
Ensembl peptide - ENSP00000404006
Ensembl peptide - ENSP00000414646
Ensembl peptide - ENSP00000265316
Ensembl peptide - ENSP00000295750
Ensembl peptide - ENSP00000401811
NCBI entrez gene - 10058
See in Manteia.
OMIM - 605452
RefSeq - NM_001349828
RefSeq - NM_005689
RefSeq Peptide - NP_001336757
RefSeq Peptide - NP_005680
swissprot - Q9NP58
swissprot - H7BXK9
swissprot - H7C049
swissprot - H7C1R6
swissprot - H7C245
swissprot - H7C3Z0
Ensembl - ENSG00000115657
| | | | | Related genetic diseases (OMIM): | 111600 - [Blood group, Langereis system], 111600 | | | 609153 - Pseudohyperkalemia, familial, 2, due to red cell leak, 609153 | | | 614497 - Microphthalmia, isolated, with coloboma 7, 614497 | | | 615402 - Dyschromatosis universalis hereditaria 3, 615402 |
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)
| ABCB7 / O75027 / ATP binding cassette subfamily B member 7 | ENSG00000131269 | 31 |
Protein motifs (from Interpro)
| IPR003439 | ABC transporter-like | | IPR003593 | AAA+ ATPase domain | | IPR011527 | ABC transporter type 1, transmembrane domain | | IPR017871 | ABC transporter, conserved site | | IPR027417 | P-loop containing nucleoside triphosphate hydrolase | | IPR032410 | Mitochondrial ABC-transporter, N-terminal five TM domain | | IPR036640 | ABC transporter type 1, transmembrane 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] |
Show
| | HP:0000365 | Hearing loss | |
Show
| | HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
Show
| | HP:0000589 | Coloboma | "A developmental defect characterized by a cleft of some portion of the `eye` (FMA:54448`) or ocular adnexa." [HPO:probinson] |
Show
| | HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
Show
| | HP:0000992 | Photosensitivity | "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators] |
Show
| | HP:0001034 | Hyperpigmented macules | |
Show
| | HP:0001480 | Freckling | |
Show
| | HP:0001923 | Reticulocytosis | |
Show
| | HP:0002153 | Hyperkalemia | |
Show
| | HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
Show
| | HP:0004446 | Stomatocytosis | |
Show
| | HP:0004802 | episodic hemolytic anemia | |
Show
| | HP:0005518 | Erythrocyte macrocytosis | |
Show
| | HP:0005590 | Spotty hypopigmentation | |
Show
| | HP:0007565 | Multiple cafe-au-lait spots | |
Show
|
Interacting proteins (from Reactome)
| ENSG00000115657 | ABCB6 / Q9NP58 / ATP binding cassette subfamily B member 6 (Langereis blood group) | / complex |
0 s.
|
