SPEF2
Sperm flagellar protein 2
Also known as: CT122, FLJ23577, KPL2, SPEF2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9C093
- Gene
- SPEF2
- Ensembl
- ENSG00000152582
- Chromosome
- 5
- Canonical length
- 1822 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nuclear bodies,Primary cilium,Cytosol,Flagellar centriole,Mid piece
OverviewNCBI Gene
Involved in sperm axoneme assembly. Located in cytosol; nuclear body; and sperm flagellum. Implicated in spermatogenic failure 43. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
1822 residues, UniProt reviewed canonical sequence.
>Q9C093|SPEF2
1 MSEILCQWLN KELKVSRTVS PKSFAKAFSS GYLLGEVLHK FELQDDFSEF LDSRVSSAKL
61 NNFSRLEPTL NLLGVQFDQN VAHGIITEKP GVATKLLYQL YIALQKKKKS GLTGVEMQTM
121 QRLTNLRLQN MKSDTFQERL RHMIPRQTDF NLMRITYRFQ EKYKHVKEDL AHLHFEKLER
181 FQKLKEEQRC FDIEKQYLNR RRQNEIMAKI QAAIIQIPKP ASNRTLKALE AQKMMKKKKE
241 AEDVADEIKK FEALIKKDLQ AKESASKTSL DTAGQTTTDL LNTYSDDEYI KKIQKRLEED
301 AFAREQREKR RRKLLMDQLI AHEAQEEAYR EEQLINRLMR QSQQERRIAV QLMHVRHEKE
361 VLWQNRIFRE KQHEERRLKD FQDALDREAA LAKQAKIDFE EQFLKEKRFH DQIAVERAQA
421 RYEKHYSVCA EILDQIVDLS TKVADYRMLT NNLIPYKLMH DWKELFFNAK PIYEQASVKT
481 LPANPSREQL TELEKRDLLD TNDYEEYKNM VGEWALPEEM VDNLPPSNNC ILGHILHRLA
541 EKSLPPRAES TTPELPSFAV KGCLLGKTLS GKTTILRSLQ KDFPIQILSI DTLVQEAIQA
601 FHDNEKVSEV LPIQKNDEED ALPVLQEEIK ESQDPQHVFS AGPVSDEVLP ETEGETMLSA
661 NADKTPKAEE VKSSDSFLKL TTRAQLGAKS EQLLKKGKSI PDVLLVDIIV NAINEIPVNQ
721 DCILDGFPMT LNQAQLLEEA LTGCNRNLTE VERKKAQKST LAIDPATSKE IPLPSPAFDF
781 VILLDVSDTS SMSRMNDIIA EELSYKTAHE DISQRVAAEN QDKDGDQNLR DQIQHRIIGF
841 LDNWPLLEQW FSEPENILIK INAEIDKESL CEKVKEILTT EIAKKKNKVE KKLEEKEAEK
901 KAAASLAELP LPTPPPAPPP EPEKEKEIHQ SHVASKTPTA KGKPQSEAPH GKQESLQEGK
961 GKKGETALKR KGSPKGKSSG GKVPVKKSPA DSTDTSPVAI VPQPPKPGSE EWVYVNEPVP
1021 EEMPLFLVPY WELIENSYIN TIKTVLRHLR EDQHTVLAYL YEIRTSFQEF LKRPDHKQDF
1081 VAQWQADFNS LPDDLWDDEE TKAELHQRVN DLRDRLWDIC DARKEEAEQE RLDIINESWL
1141 QDTLGMTMNH FFSLMQAELN RFQDTKRLLQ DYYWGMESKI PVEDNKRFTR IPLVQLDSKD
1201 NSESQLRIPL VPRISISLET VTPKPKTKSV LKGKMDNSLE NVESNFEADE KLVMDTWQQA
1261 SLAVSHMVAA EIHQRLMEEE KENQPADPKE KSPQMGANKK VKKEPPKKKQ EDKKPKGKSP
1321 PMAEATPVIV TTEEIAEIKR KNELRVKIKE EHLAALQFEE IATQFRLELI KTKALALLED
1381 LVTKVVDVYK LMEKWLGERY LNEMASTEKL TDVARYHIET STKIQNELYL SQEDFFINGN
1441 IKVFPDPPPS IRPPPVEKEE DGTLTIEQLD SLRDQFLDMA PKGIIGNKAF TDILIDLVTL
1501 NLGTNNFPSN WMHLTQPELQ ELTSLLTVNS EFVDWRKFLL VTSMPWPIPL EEELLETLQK
1561 FKAVDKEQLG TITFEQYMQA GLWFTGDEDI KIPENPLEPL PFNRQEHLIE FFFRLFADYE
1621 KDPPQLDYTQ MLLYFACHPD TVEGVYRALS VAVGTHVFQQ VKASIPSAEK TSSTDAGPAE
1681 EFPEPEENAA REERKLKDDT EKREQKDEEI PENANNEKMS METLLKVFKG GSEAQDSNRF
1741 ASHLKIENIY AEGFIKTFQD LGAKNLEPIE VAVLLKHPFI QDLISNYSDY KFPDIKIILQ
1801 RSEHVQGSDG ERSPSRHTEE KKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SPEF2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.4
- Highest tissue expression
- 18 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 18 nTPM
- fallopian tube: 15 nTPM
- cervix: 12 nTPM
- endometrium: 10 nTPM
- retina: 9.5 nTPM
- parathyroid gland: 8.1 nTPM
Single-cell type
- ependymal cells: 1,033 nCPM
- choroid plexus epithelial cells: 772 nCPM
- respiratory ciliated cells: 713 nCPM
- fallopian tube ciliated cells: 419 nCPM
- endometrial ciliated cells: 303 nCPM
- epididymal efferent duct ciliated cells: 269 nCPM
Immune cell
- MAIT T-cell: 4 nTPM
- memory CD8 T-cell: 3.4 nTPM
- gdT-cell: 3.2 nTPM
- NK-cell: 3 nTPM
- naive CD8 T-cell: 2.6 nTPM
- naive CD4 T-cell: 2.1 nTPM
Brain region
- choroid plexus: 47 nTPM
- midbrain: 15 nTPM
- medulla oblongata: 13 nTPM
- spinal cord: 10 nTPM
- hypothalamus: 10 nTPM
- basal ganglia: 8.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SPEF2.
Disease | AllUniProt
Conditions SPEF2 is implicated in, by any mechanism.
- Spermatogenic failure 43 (SPGF43) MIM:618751
Disease | GeneticClinVar
12 pathogenic / likely-pathogenic of 439 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spermatogenic failure 43
- Primary ciliary dyskinesia
- SPEF2-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.72
- gnomAD pLI
- 0
- gnomAD missense Z
- -1.01
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- brain morphogenesis
- epithelial cilium movement involved in extracellular fluid movement
- respiratory system development
- skeletal system morphogenesis
- sperm axoneme assembly
- spermatogenesis
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Calponin homology domain
- CH-like domain in sperm protein
- EF-hand domain pair
- P-loop containing nucleoside triphosphate hydrolase
- CH domain superfamily
- Adenylate kinase
- CH-like domain in sperm protein
- Sperm flagellar development and bone growth associated protein
- CPC1/SPEF2 domain D5
- SPEF2, C-terminal domain
- CPC1/SPEF2 domain D5
- SPEF2 C-terminal domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SPEF2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SPEF2 as an antibody target. Whether an autoantibody or antibody against SPEF2 could matter depends on whether native SPEF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SPEF2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SPEF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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