KCNJ13 - potassium inwardly rectifying channel subfamily J member 13 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3769

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

IRK: Inward rectifier potassium channel (21 - 333)

  • 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

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 Set / 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
Others KCNJ13 NCBI