KALRN (kalirin RhoGEF kinase)

2016-12-01  

Identity

HGNC
KALRN
LOCATION
3q21.2
LOCUSID
8997
ALIAS
ARHGEF24,CHD5,CHDS5,DUET,DUO,HAPIP,TRAD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8997
MIM: 604605
HGNC: 4814
Ensembl: ENSG00000160145

Variants:

dbSNP: 8997
ClinVar: 8997
TCGA: ENSG00000160145
COSMIC: KALRN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160145ENST00000240874O60229
ENSG00000160145ENST00000291478O60229
ENSG00000160145ENST00000354186H7BXZ5
ENSG00000160145ENST00000360013O60229
ENSG00000160145ENST00000439170H7C1X7
ENSG00000160145ENST00000448253H7C0I9
ENSG00000160145ENST00000454902C9J1B4
ENSG00000160145ENST00000460856C9IZQ6
ENSG00000160145ENST00000483658A0A0D9SGH1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
p75 NTR receptor-mediated signallingREACTOMER-HSA-193704
Cell death signalling via NRAGE, NRIF and NADEREACTOMER-HSA-204998
NRAGE signals death through JNKREACTOMER-HSA-193648
MAPK family signaling cascadesREACTOMER-HSA-5683057
MAPK6/MAPK4 signalingREACTOMER-HSA-5687128
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (q) signalling eventsREACTOMER-HSA-416476
G alpha (12/13) signalling eventsREACTOMER-HSA-416482
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
EPH-Ephrin signalingREACTOMER-HSA-2682334
EPHB-mediated forward signalingREACTOMER-HSA-3928662

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
336583182021Kalirin-RAC controls nucleokinetic migration in ADRN-type neuroblastoma.2
336583182021Kalirin-RAC controls nucleokinetic migration in ADRN-type neuroblastoma.2
330371132020KALRN mutations promote antitumor immunity and immunotherapy response in cancer.10
330371132020KALRN mutations promote antitumor immunity and immunotherapy response in cancer.10
318010622019Synaptic Kalirin-7 and Trio Interactomes Reveal a GEF Protein-Dependent Neuroligin-1 Mechanism of Action.16
318010622019Synaptic Kalirin-7 and Trio Interactomes Reveal a GEF Protein-Dependent Neuroligin-1 Mechanism of Action.16
292415842018A Schizophrenia-Linked KALRN Coding Variant Alters Neuron Morphology, Protein Function, and Transcript Stability.15
295549152018G908R NOD2 variant in a family with sarcoidosis.11
297896572018The COOH-terminal domain of huntingtin interacts with RhoGEF kalirin and modulates cell survival.5
302326742018Genetic Variation of the Kalirin Gene is Associated with ICAS in the Chinese Population.1
292415842018A Schizophrenia-Linked KALRN Coding Variant Alters Neuron Morphology, Protein Function, and Transcript Stability.15
295549152018G908R NOD2 variant in a family with sarcoidosis.11
297896572018The COOH-terminal domain of huntingtin interacts with RhoGEF kalirin and modulates cell survival.5
302326742018Genetic Variation of the Kalirin Gene is Associated with ICAS in the Chinese Population.1
281525192017Kalirin and CHD7: novel endothelial dysfunction indicators in circulating extracellular vesicles from hypertensive patients with albuminuria.11

Citation

Dessen P

KALRN (kalirin RhoGEF kinase)

Atlas Genet Cytogenet Oncol Haematol. 2016-12-01

Online version: http://atlasgeneticsoncology.org/gene/56634/kalrn-(kalirin-rhogef-kinase)