SPEF2 (sperm flagellar 2)

2014-11-01  

Identity

HGNC
LOCATION
5p13.2
LOCUSID
ALIAS
CT122,KPL2,SPGF43
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
310483442020Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility.5
311519902019Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF).2
319426432020Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD.1

Citation

Dessen P

SPEF2 (sperm flagellar 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74169/spef2