KPTN - kaptin, actin binding protein Gene

Also Known as 2E4; KICS4; MRT41

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11133

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

KPTN Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810241	Kaptin Antibody (YA9585)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

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