kidins220b

ID

ZDB-GENE-030131-7824

Name

kinase D-interacting substrate 220b

Symbol

kidins220b Nomenclature History

Previous Names

fj35h03
kidins220 (1)
wu:fj35h03
zgc:63531

Type

protein_coding_gene

Location

Chr: 20 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Enables PDZ domain binding activity. Predicted to be involved in nerve growth factor signaling pathway. Located in cytoplasm. Is expressed in hindbrain; motor neurons; and retina. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita and intellectual disability. Orthologous to human KIDINS220 (kinase D interacting substrate 220).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:63531 (1 image)

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 kidins220b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Spastic paraplegia, intellectual disability, nystagmus, and obesity	617296
		Ventriculomegaly and arthrogryposis	619501

Associated With kidins220b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR011646	KAP family P-loop domain
Domain	IPR057092	Kinase D-interacting substrate of 220 kDa-like, SAM domain
Family	IPR052771	Neurotrophin-activated signaling adaptor
Homologous_superfamily	IPR036770	Ankyrin repeat-containing domain superfamily
Repeat	IPR002110	Ankyrin repeat

Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:A0A8M2B7I2	InterPro	1690
UniProtKB:Z4YJ74	InterPro	1680
UniProtKB:Q7T163	InterPro	1680
UniProtKB:A0A8M2B7R5	InterPro	1721
UniProtKB:A0A8M2B7H5	InterPro	1732
UniProtKB:A0A8M2B7H7	InterPro	1731
UniProtKB:A0AC58I224	InterPro	1731
UniProtKB:A0AC58I233	InterPro	1721
UniProtKB:A0AC58I235	InterPro	1690
UniProtKB:A0AC58I239	InterPro	1680