VPS35L - VPS35 endosomal protein sorting factor like Gene

Homo sapiens

Also known as EC97; RTSC3; C16orf62

Gene ID: 57020 | Gene type: protein coding

About VPS35L

Cytogenetic location: 16p12.3 Genomic coordinates (GRCh38): 16:19,555,703-19,701,163 (from NCBI)

This gene has 23 transcripts (splice variants), 204 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 13.6), brain (RPKM 13.2) and 25 other tissues.

Summary

Involved in Golgi to plasma membrane transport and endocytic recycling. Located in endosome. Implicated in Ritscher-Schinzel syndrome. [provided by Alliance of Genome Resources, Apr 2022]

VPS35L Products(5)

mRNA	Protein	Name
NM_001300743.3	NP_001287672.2	VPS35 endosomal protein-sorting factor-like isoform 2
NM_001365293.2	NP_001352222.1	VPS35 endosomal protein-sorting factor-like isoform 3
NM_001365294.2	NP_001352223.1	VPS35 endosomal protein-sorting factor-like isoform 4
NM_001365295.2	NP_001352224.1	VPS35 endosomal protein-sorting factor-like isoform 5
NM_020314.7	NP_064710.5	VPS35 endosomal protein-sorting factor-like isoform 1

Protein Preferred Names

Protein Names

VPS35 endosomal protein-sorting factor-like

UPF0505 protein C16orf62

Related Diseases

Diseases

Alias

Ritscher-Schinzel Syndrome 3

RTSC3

Ritscher-Schinzel Syndrome

3c Syndrome	Ccc Dysplasia
Craniocerebellocardiac Dysplasia	Cranio-Cerebello-Cardiac Dysplasia

Ritscher-Schinzel Syndrome 1

3c Syndrome	Craniocerebellocardiac Dysplasia
RTSC1	Dandy-Walker-Like Malformation With Atrioventricular Septal Defect
Dandy-Walker Like Malformation With Atrioventricular Septal Defect	Cranio-Cerebello-Cardiac Dysplasia
Dandy-Walker-Like Malformation With Asd	Ritscher Schinzel Syndrome
Ritscher-Schinzel Cranio-Cerebello-Cardiac Syndrome	Ritscher-Schinzel Syndrome
3c

Ritscher-Schinzel Syndrome 2

RTSC2

Periventricular Nodular Heterotopia

Periventricular Heterotopia	Pvnh
Familial Nodular Heterotopia	Heterotopia, Periventricular
Periventricular Heterotopia, X-Linked

Spinocerebellar Ataxia, Autosomal Recessive 12

Autosomal Recessive Spinocerebellar Ataxia 12	SCAR12
Spinocerebellar Ataxia With Mental Retardation And Epilepsy	Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Autosomal Recessive Spinocerebellar Ataxia Type 12	Spinocerebellar Ataxia, Autosomal Recessive, 12
Ataxia, Spinocerebellar, Autosomal Recessive, Type 12

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

Mednik Syndrome	Erythrokeratodermia Variabilis 3
MEDNIK	Ekv3
Erythrokeratodermia Variabilis, Kamouraska Type	Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia
Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome	Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome
Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Erythrokeratodermia Variabilis Kamouraska Type
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

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-RS15686	VPS35L Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	VPS35L	RGD	RGD:1564485
Bos taurus	VPS35L	VGNC	VGNC:51092
Mus musculus	VPS35L	MGD	MGI:1918767
Macaca mulatta	VPS35L	VGNC	VGNC:79446
Canis familiaris	VPS35L	VGNC	VGNC:51093
Felis catus	VPS35L	VGNC	VGNC:66965

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