ZFIN is now using GRCz12tu for Genomic Data
Gene
pkhd1l1.2
- ID
- ZDB-GENE-060503-789
- Name
- PKHD1 like 1, tandem duplicate 2
- Symbol
- pkhd1l1.2 Nomenclature History
- Previous Names
-
- si:ch211-244a23.1
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness. Orthologous to human PKHD1L1 (PKHD1 like 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Makrogkikas et al., 2023
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive nonsyndromic deafness 124 | Alliance | Deafness, autosomal recessive 124 | 620794 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002909 | IPT domain |
| Domain | IPR019316 | G8 domain |
| Domain | IPR037524 | PA14/GLEYA domain |
| Domain | IPR055401 | CEMIP, beta-helix domain |
| Family | IPR052387 | Fibrocystin |
| Homologous_superfamily | IPR008972 | Cupredoxin |
| Homologous_superfamily | IPR011050 | Pectin lyase fold/virulence factor |
| Homologous_superfamily | IPR012334 | Pectin lyase fold |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR014756 | Immunoglobulin E-set |
| Repeat | IPR006626 | Parallel beta-helix repeat |
Domain Details Per Protein
| Protein | Additional Resources | Length | CEMIP, beta-helix domain | Cupredoxin | Fibrocystin | G8 domain | Immunoglobulin E-set | Immunoglobulin-like fold | IPT domain | PA14/GLEYA domain | Parallel beta-helix repeat | Pectin lyase fold | Pectin lyase fold/virulence factor |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AVJ3 | InterPro | 4224 | |||||||||||
| UniProtKB:D3G896 | InterPro | 4183 | |||||||||||
| UniProtKB:A8E7R5 | InterPro | 3895 | |||||||||||
| UniProtKB:A0A8M6YTX7 | InterPro | 4229 | |||||||||||
| UniProtKB:A0AB32T9R3 | InterPro | 4217 | |||||||||||
| UniProtKB:A0AC58HYP8 | InterPro | 2690 | |||||||||||
| UniProtKB:A0AC58HYQ7 | InterPro | 4201 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pkhd1l1-203
(1)
|
Ensembl | 12,552 nt | ||
| mRNA |
pkhd1l1-204
(1)
|
Ensembl | 11,920 nt | ||
| mRNA |
si:ch211-244a23.1-204
(1)
|
Ensembl | 12,939 nt | ||
| ncRNA |
si:ch211-244a23.1-002
(1)
|
Ensembl | 759 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers
- Comparative Orthology
- Alliance