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

Description

Predicted to localize to integral component of membrane.

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Makrogkikas et al., 2023

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pkhd1l1.2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Deafness, autosomal recessive 124	620794

Associated With pkhd1l1.2 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR002909	IPT domain
Domain	IPR019316	G8 domain
Domain	IPR037524	PA14/GLEYA domain
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	Length	Cupredoxin	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

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pkhd1l1-203 (1) Ensembl	Ensembl	12,552 nt	Select Tool ZFIN BLAST
mRNA	pkhd1l1-204 (1) Ensembl	Ensembl	11,920 nt	Select Tool ZFIN BLAST
mRNA	si:ch211-244a23.1-204 (1) Ensembl	Ensembl	12,939 nt	Select Tool ZFIN BLAST
ncRNA	si:ch211-244a23.1-002 (1) Ensembl	Ensembl	759 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance

Citations