KCNJ13 - potassium inwardly rectifying channel subfamily J member 13 Gene

Homo sapiens

Also known as SVD; LCA16; KIR1.4; KIR7.1

Gene ID: 3769 | Gene type: protein coding

About KCNJ13

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:232,765,802-232,776,565 (from NCBI)

This gene has 5 transcripts (splice variants), 214 orthologues, 15 paralogues and is associated with 6 phenotypes. Biased expression in small intestine (RPKM 40.5), thyroid (RPKM 3.6) and 1 other tissue.

Summary

This gene encodes a member of the inwardly rectifying Potassium Channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

KCNJ13 Products(3)

mRNA	Protein	Name
NM_001172416.1	NP_001165887.1	inward rectifier potassium channel 13 isoform 2
NM_001172417.1	NP_001165888.1	inward rectifier potassium channel 13 isoform 3
NM_002242.4	NP_002233.2	inward rectifier potassium channel 13 isoform 1

KCNJ13 Protein Structure

IRK

0
100
200
300
360 a.a.

Protein Preferred Names

Protein Names

inward rectifier potassium channel 13

inward rectifier K(+) channel Kir7.1

Related Diseases

Diseases

Alias

Leber Congenital Amaurosis 16

LCA16

Leber Congenital Amaurosis, Type 16

Vitreoretinal Degeneration, Snowflake Type

Snowflake Vitreoretinal Degeneration	SVD
Snowflake Degeneration In Hereditary Vitreoretinal Degeneration

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Vitreoretinal Degeneration

Cerebrovascular Benign Neoplasm

Choroid Plexus Cancer

Choroid Plexus Carcinoma	Choroid Plexus Neoplasms
Choroid Plexus Neoplasm	Tumor Of Choroid Plexus
Tumor Of The Choroid Plexus	Choroid Plexus Tumor
Choroid Plexus Tumors	Anaplastic Choroid Plexus Papilloma
Choroid Plexus Papilloma Nos	Papilloma Of Choroid Plexus
Plexus Choroideus Papilloma	Choroid Plexus Papilloma In Fourth Ventricle
Plexus Choroideus Papilloma In Fourth Ventricle

Vitreoretinal Dystrophy

Vitreoretinal Dystrophies

Leber Congenital Amaurosis 14

LCA14	Retinitis Pigmentosa, Juvenile, Lrat-Related
Retinal Dystrophy, Early-Onset Severe	Retinitis Pigmentosa, Juvenile
Retinitis Pigmentosa Juvenile Lrat-Related	Severe Early-Onset Retinal Dystrophy Lrat-Related
Retinal Dystrophy, Early-Onset Severe, Lrat-Related	Leber Congenital Amaurosis, Type 14

Atypical Choroid Plexus Papilloma

Atypical Papilloma Of Choroid Plexus

Atypical Cpp

Papillary Ependymoma

Ependymoma Papillary

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Leber Congenital Amaurosis 15

LCA15

Leber Congenital Amaurosis, Type 15

Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance

Sesame Syndrome	East Syndrome
SESAMES	Epilepsy, Ataxia, Sensorineural Deafness And Tubulopathy
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation And Electrolyte Imbalance	Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome
Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome	Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy
Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance	Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome
Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome	Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance
Epilepsy Ataxia Sensorineural Deafness And Tubulopathy	Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Syndrome

Tracheomalacia

Congenital Tracheomalacia	Congenital Major Airway Collapse
Tracheomalacia, Congenital	Type 1 Tracheomalacia

Papilloma Of Choroid Plexus

Choroid Plexus Papilloma	CPP
Childhood Choroid Plexus Papilloma	Papilloma Choroid Plexus
Papilloma, Choroid Plexus	Choroid Plexus Carcinoma

Retinal Detachment

Retinal Detachments	Rhegmatogenous Retinal Detachment
Ruptured Retina With Detachment	Retinal Hole With Detachment

Vitreous Syneresis

Vitreous Degeneration

Leber Congenital Amaurosis 11

LCA11

Leber Congenital Amaurosis, Type 11

Leber Congenital Amaurosis 12

LCA12

Leber Congenital Amaurosis, Type 12

Leber Congenital Amaurosis 10

LCA10

Leber Congenital Amaurosis, Type 10

Leber Congenital Amaurosis 13

LCA13	Retinitis Pigmentosa 53
RP53	Leber Congenital Amaurosis, Type 13

Rhabdoid Meningioma

Papillary Meningioma

Meningioma, Rhabdoid

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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-RS07140	KCNJ13 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	KCNJ13	VGNC	VGNC:42260
Mus musculus	KCNJ13	MGD	MGI:3781032
Rattus norvegicus	KCNJ13	RGD	RGD:621661
Macaca mulatta	KCNJ13	VGNC	VGNC:104540
Bos taurus	KCNJ13	VGNC	VGNC:30456
Felis catus	KCNJ13	VGNC	VGNC:67912

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