Seroatlas · Human Serome Atlas

CCDC22

Coiled-coil domain-containing protein 22

Also known as: CCD22_HUMAN, CXorf37, JM1

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

Protein identityUniProt · HPA

UniProt accession: O60826
Gene: CCDC22
Ensembl: ENSG00000101997
Chromosome: X
Canonical length: 627 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Endoplasmic reticulum,Vesicles

OverviewNCBI Gene

This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013]

Canonical amino-acid sequenceUniProt

627 residues, UniProt reviewed canonical sequence.

>O60826|CCDC22
     1  MEEADRILIH SLRQAGTAVP PDVQTLRAFT TELVVEAVVR CLRVINPAVG SGLSPLLPLA
    61  MSARFRLAMS LAQACMDLGY PLELGYQNFL YPSEPDLRDL LLFLAERLPT DASEDADQPA
   121  GDSAILLRAI GSQIRDQLAL PWVPPHLRTP KLQHLQGSAL QKPFHASRLV VPELSSRGEP
   181  REFQASPLLL PVPTQVPQPV GRVASLLEHH ALQLCQQTGR DRPGDEDWVH RTSRLPPQED
   241  TRAQRQRLQK QLTEHLRQSW GLLGAPIQAR DLGELLQAWG AGAKTGAPKG SRFTHSEKFT
   301  FHLEPQAQAT QVSDVPATSR RPEQVTWAAQ EQELESLREQ LEGVNRSIEE VEADMKTLGV
   361  SFVQAESECR HSKLSTAERE QALRLKSRAV ELLPDGTANL AKLQLVVENS AQRVIHLAGQ
   421  WEKHRVPLLA EYRHLRKLQD CRELESSRRL AEIQELHQSV RAAAEEARRK EEVYKQLMSE
   481  LETLPRDVSR LAYTQRILEI VGNIRKQKEE ITKILSDTKE LQKEINSLSG KLDRTFAVTD
   541  ELVFKDAKKD DAVRKAYKYL AALHENCSQL IQTIEDTGTI MREVRDLEEQ IETELGKKTL
   601  SNLEKIREDY RALRQENAGL LGRVREA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CCDC22 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): 0.46
Highest tissue expression: 20 nTPM

Expression across tissuesHPA

Tissue

spleen: 20 nTPM
bone marrow: 18 nTPM
skeletal muscle: 17 nTPM
cerebellum: 16 nTPM
lymph node: 14 nTPM
pancreas: 14 nTPM

Single-cell type

hofbauer cells: 47 nCPM
esophageal suprabasal cells: 31 nCPM
neutrophil progenitors: 29 nCPM
syncytiotrophoblasts: 26 nCPM
paneth cells: 23 nCPM
esophageal apical cells: 23 nCPM

Immune cell

myeloid DC: 38 nTPM
classical monocyte: 37 nTPM
intermediate monocyte: 31 nTPM
total PBMC: 28 nTPM
non-classical monocyte: 27 nTPM
eosinophil: 24 nTPM

Brain region

medulla oblongata: 15 nTPM
white matter: 15 nTPM
thalamus: 13 nTPM
pons: 13 nTPM
basal ganglia: 13 nTPM
cerebellum: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CCDC22.

Disease | AllUniProt

Conditions CCDC22 is implicated in, by any mechanism.

Ritscher-Schinzel syndrome 2 (RTSC2) MIM:300963

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 258 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Ritscher-Schinzel syndrome 2
Ritscher-Schinzel syndrome 1

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): 0.12
gnomAD pLI: 1
gnomAD missense Z: 1.29
DepMap mean gene effect: -0.22
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

cullin family protein binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

Coiled-coil domain-containing protein 22
CCDC22, coiled-coil domain
CCDC22, N-terminal domain
CCDC22 protein coiled-coil region
CCDC22 protein N-terminal domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CCDC22 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 CCDC22 as an antibody target. Whether an autoantibody or antibody against CCDC22 could matter depends on whether native CCDC22 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CCDC22 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 CCDC22 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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