KATNAL2 (katanin catalytic subunit A1 like 2)

2014-11-01  

Identity

HGNC
KATNAL2
LOCATION
18q21.1
LOCUSID
83473
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 83473
MIM: 614697
HGNC: 25387
Ensembl: ENSG00000167216

Variants:

dbSNP: 83473
ClinVar: 83473
TCGA: ENSG00000167216
COSMIC: KATNAL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167216ENST00000245121Q8IYT4
ENSG00000167216ENST00000356157Q8IYT4
ENSG00000167216ENST00000585469K7EMW1
ENSG00000167216ENST00000586198K7EM02
ENSG00000167216ENST00000588433K7EIJ8
ENSG00000167216ENST00000591522K7EPQ6
ENSG00000167216ENST00000592005K7EQ00

Expression (GTEx)

0
5
10
15
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

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
389169972024Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.1
389169972024Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.1
340966142021Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia.4
340966142021Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia.4
224953112012Patterns and rates of exonic de novo mutations in autism spectrum disorders.932
230188672012Genome-wide methylation profiling identifies hypermethylated biomarkers in high-grade cervical intraepithelial neoplasia.26
224953112012Patterns and rates of exonic de novo mutations in autism spectrum disorders.932
230188672012Genome-wide methylation profiling identifies hypermethylated biomarkers in high-grade cervical intraepithelial neoplasia.26

Citation

Dessen P

KATNAL2 (katanin catalytic subunit A1 like 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64743/meetings/css/lib/deep-insight-explorer/