Seroatlas · Human Serome Atlas

CCM2L

Cerebral cavernous malformations 2 protein-like

Also known as: C20orf160, CCM2L_HUMAN, dJ310O13.5

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9NUG4
Gene: CCM2L
Ensembl: ENSG00000101331
Chromosome: 20
Canonical length: 571 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

Predicted to act upstream of or within several processes, including heart development; negative regulation of homotypic cell-cell adhesion; and positive regulation of fibroblast growth factor production. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

571 residues, UniProt reviewed canonical sequence.

>Q9NUG4|CCM2L
     1  MEYEVKKGKK GFVSPIRRLV FPKAGRRAAC RSSVSRRPLH SMPLYPPDYL IDPQILLCDY
    61  LEKEVKFLGH LTWVTSSLNP SSRDELLQLL DTARQLKELP LKTTAEQDSI LSLSARCLLL
   121  TWRDNEELIL RIPTHEIAAA SYLQDDALHL LVLKTGLGVD PVPAGVDASP GGAGRDPGPP
   181  GGAPEKRRVG TAERRHTICS LDWRMGWGGG AAEARAGGGG GGSLERQRAG ARASGSWERR
   241  QTFSGSWERR HGGGGGGGGA GKPGGSWERR QAGSGGGGSW ERRHPGPNPL DPQDPSPDAY
   301  CNLVILAVAN RDAAEESCAL ICQVFQIIYG DQSIECVDRA GYHYTSTPER PWLCSRSESC
   361  HTDGTYAYDA DFSCCSSFNG SQDTFEACYS GTSTPSFHGS HCSGSDHSSL GLEQLQDYMV
   421  TLRSKLGPLE IQQFAMLLRE YRLGLPIQDY CTGLLKLYGD RRKFLLLGMR PFIPDQDIGY
   481  FEGFLEGVGI REGGILTDSF GRIKRSMSST SASAVRSYDG AAQRPEAQAF HRLLADITHD
   541  IEALAPDDDD DDEDEPRGSR GGSDAAEDNY L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CCM2L 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: Unknown
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.5
Highest tissue expression: 99 nTPM

Expression across tissuesHPA

Tissue

spleen: 99 nTPM
heart muscle: 17 nTPM
adipose tissue: 12 nTPM
breast: 11 nTPM
kidney: 10 nTPM
lung: 8.5 nTPM

Single-cell type

lymphatic endothelial cells: 56 nCPM
vascular endothelial cells: 56 nCPM
tuft cells: 35 nCPM
retinal amacrine cells: 8.3 nCPM
brain excitatory neurons: 7.7 nCPM
platelets: 5.6 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebellum: 14 nTPM
thalamus: 9.1 nTPM
cerebral cortex: 9 nTPM
amygdala: 8.8 nTPM
pons: 8.5 nTPM
medulla oblongata: 7.6 nTPM

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): 1.1
gnomAD pLI: 0
gnomAD missense Z: 0.91
DepMap mean gene effect: 0.01
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

Protein domainsUniProt · Pfam · InterPro

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CCM2L as an antibody target. Whether an autoantibody or antibody against CCM2L could matter depends on whether native CCM2L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CCM2L 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 CCM2L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...