GIPC2 - GIPC PDZ domain containing family member 2 Gene

Homo sapiens

Also known as SEMCAP2; SEMCAP-2

Gene ID: 54810 | Gene type: protein coding

About GIPC2

Cytogenetic location: 1p31.1 Genomic coordinates (GRCh38): 1:78,044,970-78,138,444 (from NCBI)

This gene has 2 transcripts (splice variants), 190 orthologues and 2 paralogues. Broad expression in kidney (RPKM 20.2), small intestine (RPKM 19.8) and 18 other tissues.

Summary

Enables identical protein binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]

GIPC2 Products(2)

mRNA	Protein	Name
NM_001304725.2	NP_001291654.1	PDZ domain-containing protein GIPC2 isoform 2
NM_017655.6	NP_060125.4	PDZ domain-containing protein GIPC2 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GIPC2 Protein Structure

PDZ

0
100
200
315 a.a.

Protein Preferred Names

Protein Names

PDZ domain-containing protein GIPC2

PDZ domain protein GIPC2

Related Diseases

Diseases

Alias

Waardenburg Syndrome, Type 4a

Waardenburg-Shah Syndrome	Shah-Waardenburg Syndrome
Waardenburg Syndrome Type 4a	WS4A
Ws4	Waardenburg Syndrome Type 4
Waardenburg Syndrome Type Iva	Waardenburg Syndrome With Hirschsprung Disease Type 4a
Hirschsprung Disease With Pigmentary Anomaly	Waardenburg-Hirschsprung Syndrome
Waardenburg Syndrome, Type Iva	Waardenburg Syndrome With Hirschsprung Disease, Type 4a
Waardenburg-Hirschsprung Disease	Waardenburg Syndrome, Type 4
Waardenburg Syndrome 4a

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05436	GIPC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GIPC2	RGD	RGD:1560751
Felis catus	GIPC2	VGNC	VGNC:80219
Bos taurus	GIPC2	VGNC	VGNC:29366
Macaca mulatta	GIPC2	VGNC	VGNC:106370
Mus musculus	GIPC2	MGD	MGI:1889209
Canis familiaris	GIPC2	VGNC	VGNC:41226

Name
Email *

	Sorry, but the email address you supplied was invalid.