KPTN - kaptin, actin binding protein Gene

Homo sapiens

Also known as 2E4; KICS4; MRT41

Gene ID: 11133 | Gene type: protein coding

About KPTN

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:47,475,150-47,485,839 (from NCBI)

This gene has 9 transcripts (splice variants), 181 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 1.7), testis (RPKM 1.7) and 25 other tissues.

Summary

This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2017]

KPTN Products(2)

mRNA	Protein	Name
NM_001291296.2	NP_001278225.1	KICSTOR complex protein kaptin isoform 2
NM_007059.4	NP_008990.2	KICSTOR complex protein kaptin isoform 1

Protein Preferred Names

Protein Names

KICSTOR complex protein kaptin

actin-associated protein 2E4

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Recessive 41

Macrocephaly-Developmental Delay Syndrome	MRT41
Mental Retardation, Autosomal Recessive 41	Autosomal Recessive Intellectual Developmental Disorder 41
Mental Retardation, Autosomal Recessive, Type 41

Pervasive Developmental Disorder

Pervasive Development Disorder	Pervasive Developmental Disorders
Pervasive Child Development Disorders	Autistic Behavior
Autism Spectrum Disorders

Epilepsy, Familial Temporal Lobe, 3

Epilepsy, Familial Mesial Temporal Lobe	Fmtle
Familial Temporal Lobe Epilepsy 3	ETL3
Familial Mesial Temporal Lobe Epilepsy

Baraitser-Winter Syndrome

Fryns-Aftimos Syndrome	Brws
Cerebro-Frontofacial Syndrome, Type 3	Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation
Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability	Trigonocephaly Ptosis Coloboma
Trigonocephaly Ptosis Intellectual Disability	Cerebrofrontofacial Syndrome Type 3

Alcohol-Related Neurodevelopmental Disorder

Static Encephalopathy	Arnd
Encephalopathy, Static	Alcohol Related Neurodevelopmental Disorder

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07424	KPTN Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	KPTN	VGNC	VGNC:74204
Felis catus	KPTN	VGNC	VGNC:97477
Bos taurus	KPTN	VGNC	VGNC:30709
Canis familiaris	KPTN	VGNC	VGNC:42507
Rattus norvegicus	KPTN	RGD	RGD:1310341
Mus musculus	KPTN	MGD	MGI:1890380