KHDC4 (KH domain containing 4, pre-mRNA splicing factor)

2018-11-01  

Identity

HGNC
KHDC4
LOCATION
1q22
LOCUSID
22889
ALIAS
BLOM7,KIAA0907,SNORA80EHG

Other Information

Locus ID:

NCBI: 22889
HGNC: 29145
Ensembl: ENSG00000132680

Variants:

dbSNP: 22889
ClinVar: 22889
TCGA: ENSG00000132680
COSMIC: KHDC4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132680ENST00000368319Q7Z7F0
ENSG00000132680ENST00000368320Q7Z7F0
ENSG00000132680ENST00000368321Q7Z7F0

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
231447032012Inhibition of pre-mRNA splicing by a synthetic Blom7α-interacting small RNA.1
231447032012Inhibition of pre-mRNA splicing by a synthetic Blom7α-interacting small RNA.1
196412272009Blom7alpha is a novel heterogeneous nuclear ribonucleoprotein K homology domain protein involved in pre-mRNA splicing that interacts with SNEVPrp19-Pso4.8
196412272009Blom7alpha is a novel heterogeneous nuclear ribonucleoprotein K homology domain protein involved in pre-mRNA splicing that interacts with SNEVPrp19-Pso4.8

Citation

Dessen P

KHDC4 (KH domain containing 4, pre-mRNA splicing factor)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/80288/haematological-explorer/