ENSG00000111846
Homo sapiens | |
Features
| Gene ID: | ENSG00000111846 | | | | | Biological name : | GCNT2 | | | | | Synonyms : | GCNT2 / glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) / Q8N0V5 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 6 | | Strand: | 1 | | Band: | p24.3 | | Gene start: | 10492223 | | Gene end: | 10629368 | | | | | Corresponding Affymetrix probe sets: | 211020_at (Human Genome U133 Plus 2.0 Array) 230788_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000368917
Ensembl peptide - ENSP00000492466
Ensembl peptide - ENSP00000419411
Ensembl peptide - ENSP00000386321
Ensembl peptide - ENSP00000265012
Ensembl peptide - ENSP00000314844
NCBI entrez gene - 2651
See in Manteia.
OMIM - 600429
RefSeq - XM_005248999
RefSeq - XM_006715052
RefSeq - NM_001491
RefSeq - NM_145649
RefSeq - NM_145655
RefSeq Peptide - NP_001482
RefSeq Peptide - NP_663624
RefSeq Peptide - NP_663630
swissprot - Q8N0V5
swissprot - B7ZBL3
swissprot - A0A1W2PRW1
Ensembl - ENSG00000111846
| | | | | Related genetic diseases (OMIM): | 110800 - Adult i phenotype without cataract, 110800 | | | 116700 - Cataract 13 with adult i phenotype, 116700 |
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)
No match
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:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000519 | Congenital cataract | "A congenital `cataract` (HP:0000518)." [HPO:probinson] |
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| | HP:0010970 | Blood group antigen abnormality | "An abnormality of an erythrocyte cell surface molecule." [HPO:probinson] |
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Interacting proteins (from Reactome)
No match
0 s.
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