SPEF2 (sperm flagellar 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 79925
Gene name Sperm flagellar 2
Gene symbol SPEF2
Synonyms (NCBI Gene)
CT122KPL2SPGF43
Chromosome 5
Chromosome location 5p13.2
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1391102782 C>- Pathogenic Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
13
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (13)
miRTarBase ID miRNA Experiments Reference
MIRT1383679 hsa-miR-4255 CLIP-seq
MIRT1383680 hsa-miR-4276 CLIP-seq
MIRT1383681 hsa-miR-4325 CLIP-seq
MIRT1383682 hsa-miR-450b-5p CLIP-seq
MIRT1383683 hsa-miR-507 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0002177 Component Manchette IBA
GO:0002177 Component Manchette ISS
GO:0003351 Process Epithelial cilium movement involved in extracellular fluid movement ISS
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610172 26293 ENSG00000152582
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9C093
Protein name Sperm flagellar protein 2 (Protein KPL2)
Protein function Required for correct axoneme development in spermatozoa. Important for normal development of the manchette and sperm head morphology. Essential for male fertility. Plays a role in localization of the intraflagellar transport protein IFT20 to the
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06294 CH_2 5 → 102 CH-like domain in sperm protein Domain
PF00406 ADK 671 → 764 Domain
Sequence 
MSEILCQWLNKELKVSRTVSPKSFAKAFSSGYLLGEVLHKFELQDDFSEFLDSRVSSAKL
NNFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQLYIALQKKKKSGLTGVEMQTM
QRLTNLRLQNMKSDTFQERLRHMIPRQTDFNLMRITYRFQEKYKHVKEDLAHLHFEKLER
FQKLKEEQRCFDIEKQYLNRRRQNEIMAKIQAAIIQIPKPASNRTLKALEAQKMMKKKKE
AEDVADEIKKFEALIKKDLQAKESASKTSLDTAGQTTTDLLNTYSDDEYIKKIQKRLEED
AFAREQREKRRRKLLMDQLIAHEAQEEAYREEQLINRLMRQSQQERRIAVQLMHVRHEKE
VLWQNRIFREKQHEERRLKDFQDALDREAALAKQAKIDFEEQFLKEKRFHDQIAVERAQA
RYEKHYSVCAEILDQIVDLSTKVADYRMLTNNLIPYKLMHDWKELFFNAKPIYEQASVKT
LPANPSREQLTELEKRDLLDTNDYEEYKNMVGEWALPEEMVDNLPPSNNCILGHILHRLA
EKSLPPRAESTTPELPSFAVKGCLLGKTLSGKTTILRSLQKDFPIQILSIDTLVQEAIQA
FHDNEKVSEVLPIQKNDEEDALPVLQEEIKESQDPQHVFSAGPVSDEVLPETEGETMLSA
NADKTPKAEEVKSSDSFLKLTTRAQLGAKSEQLLKKGKSIPDVLLVDIIVNAINEIPVNQ
DCILDGFPMTLNQAQLLEEALTGCNRNLTEVERKKAQKSTLAIDPATSKEIPLPSPAFDF
VILLDVSDTSSMSRMNDIIAEELSYKTAHEDISQRVAAENQDKDGDQNLRDQIQHRIIGF
LDNWPLLEQWFSEPENILIKINAEIDKESLCEKVKEILTTEIAKKKNKVEKKLEEKEAEK
KAAASLAELPLPTPPPAPPPEPEKEKEIHQSHVASKTPTAKGKPQSEAPHGKQESLQEGK
GKKGETALKRKGSPKGKSSGGKVPVKKSPADSTDTSPVAIVPQPPKPGSEEWVYVNEPVP
EEMPLFLVPYWELIENSYINTIKTVLRHLREDQHTVLAYLYEIRTSFQEFLKRPDHKQDF
VAQWQADFNSLPDDLWDDEETKAELHQRVNDLRDRLWDICDARKEEAEQERLDIINESWL
QDTLGMTMNHFFSLMQAELNRFQDTKRLLQDYYWGMESKIPVEDNKRFTRIPLVQLDSKD
NSESQLRIPLVPRISISLETVTPKPKTKSVLKGKMDNSLENVESNFEADEKLVMDTWQQA
SLAVSHMVAAEIHQRLMEEEKENQPADPKEKSPQMGANKKVKKEPPKKKQEDKKPKGKSP
PMAEATPVIVTTEEIAEIKRKNELRVKIKEEHLAALQFEEIATQFRLELIKTKALALLED
LVTKVVDVYKLMEKWLGERYLNEMASTEKLTDVARYHIETSTKIQNELYLSQEDFFINGN
IKVFPDPPPSIRPPPVEKEEDGTLTIEQLDSLRDQFLDMAPKGIIGNKAFTDILIDLVTL
NLGTNNFPSNWMHLTQPELQELTSLLTVNSEFVDWRKFLLVTSMPWPIPLEEELLETLQK
FKAVDKEQLGTITFEQYMQAGLWFTGDEDIKIPENPLEPLPFNRQEHLIEFFFRLFADYE
KDPPQLDYTQMLLYFACHPDTVEGVYRALSVAVGTHVFQQVKASIPSAEKTSSTDAGPAE
EFPEPEENAAREERKLKDDTEKREQKDEEIPENANNEKMSMETLLKVFKGGSEAQDSNRF
ASHLKIENIYAEGFIKTFQDLGAKNLEPIEVAVLLKHPFIQDLISNYSDYKFPDIKIILQ
RSEHVQGSDGERSPSRHTEEKK
Sequence length 1822
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Primary ciliary dyskinesia Pathogenic rs1739374011 RCV001089640
SPEF2-related disorder Likely pathogenic rs1239348737, rs1754689321 RCV003397824
RCV003903964
Spermatogenic failure 43 Pathogenic rs1391102782, rs1375975527, rs1230916222, rs1580704451, rs1580383744, rs1580783651, rs1580529760 RCV000993859
RCV000993860
RCV000993861
RCV000993862
RCV000993863
RCV000993864
RCV000993865
Show/Hide Unknown Diseases (21)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs2277044, rs11957765 RCV005917177
RCV005923884
Adrenocortical carcinoma, hereditary Benign rs2277044 RCV005917180
Cervical cancer Benign rs2277044, rs77660141 RCV005917181
RCV005907340
Cholangiocarcinoma Benign rs11957765 RCV005924872
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Asthenozoospermia Associate 34755699
Ciliary Motility Disorders Associate 38568462
Immunologic Deficiency Syndromes Associate 36742411
Infertility Associate 38568462
Infertility Male Associate 38568462
Lymphoma Associate 37801226
Macular Degeneration Associate 32246154
Nasopharyngeal Carcinoma Associate 31770211
Neoplasms Associate 35500227
Pancreatitis Associate 28574850