ENSG00000074410
Homo sapiens | |
Features
| Gene ID: | ENSG00000074410 | | | | | Biological name : | CA12 | | | | | Synonyms : | CA12 / carbonic anhydrase 12 / O43570 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 15 | | Strand: | -1 | | Band: | q22.2 | | Gene start: | 63321378 | | Gene end: | 63382161 | | | | | Corresponding Affymetrix probe sets: | 203963_at (Human Genome U133 Plus 2.0 Array) 204508_s_at (Human Genome U133 Plus 2.0 Array) 204509_at (Human Genome U133 Plus 2.0 Array) 210735_s_at (Human Genome U133 Plus 2.0 Array) 214164_x_at (Human Genome U133 Plus 2.0 Array) 215867_x_at (Human Genome U133 Plus 2.0 Array) 241230_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000403028
Ensembl peptide - ENSP00000178638
Ensembl peptide - ENSP00000343088
NCBI entrez gene - 771
See in Manteia.
OMIM - 603263
RefSeq - NM_001218
RefSeq - NM_001293642
RefSeq - NM_206925
RefSeq Peptide - NP_001209
RefSeq Peptide - NP_001280571
RefSeq Peptide - NP_996808
swissprot - O43570
swissprot - B3KUB4
Ensembl - ENSG00000074410
| | | | | Related genetic diseases (OMIM): | 143860 - Hyperchlorhidrosis, isolated, 143860 |
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)
| IPR001148 | Alpha carbonic anhydrase domain | | IPR018338 | Carbonic anhydrase, alpha-class, conserved site | | IPR018430 | Carbonic anhydrase, CA-XII | | IPR023561 | Carbonic anhydrase, alpha-class | | IPR036398 | Alpha carbonic anhydrase 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: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] |
Show
| | HP:0001508 | Failure to thrive | |
Show
| | HP:0001939 | Metabolism abnormality | |
Show
| | HP:0001944 | Dehydration | |
Show
| | HP:0002153 | Hyperkalemia | |
Show
| | HP:0002902 | Hyponatremia | |
Show
| | HP:0003593 | Early onset | |
Show
| | HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
Show
|
Interacting proteins (from Reactome)
0 s.
|
