Gene Symbol Report 
PKHD1
| Approved Symbol |
PKHD1 |
|---|---|
| Approved Name |
polycystic kidney and hepatic disease 1 (autosomal recessive) |
| HGNC ID |
HGNC:9016 |
| Previous Symbols & Names |
"TIG multiple domains 1", TIGM1 |
| Synonyms |
ARPKD, FCYT, "fibrocystin", "polyductin", "tigmin" |
| Locus Type |
gene with protein product |
| Chromosomal Location |
6p21.2-p12 |
| HOMOLOGS |
MGI:2155808 D Mouse Symbol: Pkhd1 RGD:1308476 D Rat Symbol: Pkhd1 HCOP D TreeFam D |
|
|---|---|---|
| NUCLEOTIDE SEQUENCES |
GenBank:AF480064 EMBL-Bank DDBJ C RefSeq:NM_138694 C CCDS:CCDS4935.1 C Vega:OTTHUMG00000014841 C |
|
| GENE RESOURCES |
Entrez Gene:5314 C Ensembl:ENSG00000170927 C UCSC:uc003pah.1 D Vega:OTTHUMG00000014841 C |
NCBI Sequence Viewer Ensembl Genome Browser UCSC Genome Browser Vega Genome Browser |
| PROTEIN RESOURCES |
UniProtKB:P08F94 D InterPro D |
|
| CLINICAL RESOURCES |
OMIM D GeneTests D Orphanet D DECIPHER D COSMIC D LSDB:Autosomal Recessive Polycystic Kidney Disease C Genetic Testing Registry C |
|
| REFERENCES |
PubMed Europe PMC C |
|
| OTHER DATABASE LINKS |
GENATLAS D GeneCards D GOPubmed D H-InvDB D QuickGO D Reactome D WikiGenes D |
|
