SPEF2 (sperm flagellar 2)

2014-11-01  

Identity

HGNC
SPEF2
LOCATION
5p13.2
LOCUSID
79925
ALIAS
CT122,KPL2,SPGF43
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79925
MIM: 610172
HGNC: 26293
Ensembl: ENSG00000152582

Variants:

dbSNP: 79925
ClinVar: 79925
TCGA: ENSG00000152582
COSMIC: SPEF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152582ENST00000282469Q9C093
ENSG00000152582ENST00000356031Q9C093
ENSG00000152582ENST00000356031A0A140VKD0
ENSG00000152582ENST00000440995Q9C093
ENSG00000152582ENST00000506526H0YAC0
ENSG00000152582ENST00000508817H0Y8H6
ENSG00000152582ENST00000509059D6REZ4
ENSG00000152582ENST00000510777D6RGZ5
ENSG00000152582ENST00000513078H0Y989
ENSG00000152582ENST00000637061A0A1B0GWC1
ENSG00000152582ENST00000637569A0A1B0GWD8

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
385684622024Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia.0
385684622024Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia.0
347556992022Sperm flagellar 2 (SPEF2) is essential for sperm flagellar assembly in humans.5
347556992022Sperm flagellar 2 (SPEF2) is essential for sperm flagellar assembly in humans.5
310483442020Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility.31
315456502020SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.36
319426432020Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD.31
310483442020Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility.31
315456502020SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.36
319426432020Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD.31
311519902019Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF).30
312787452019Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype.11
311519902019Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF).30
312787452019Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype.11
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

SPEF2 (sperm flagellar 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74169/css/gene-fusions-explorer/js/lib/popper.js