Seroatlas · Human Serome Atlas

CCDC134

Coiled-coil domain-containing protein 134

Also known as: CC134_HUMAN, FLJ22349

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

Protein identityUniProt · HPA

UniProt accession
Q9H6E4
Gene
CCDC134
Ensembl
ENSG00000100147
Chromosome
22
Canonical length
229 aa
Protein class
Disease related genes, Human disease related genes, Predicted secreted proteins
Subcellular location
Vesicles,Cytosol
Secretome location
Secreted to blood

OverviewNCBI Gene

Enables protein-macromolecule adaptor activity. Involved in positive regulation of signal transduction; regulation of ossification; and regulation of protein glycosylation. Located in cytosol and intracellular membrane-bounded organelle. Is active in endoplasmic reticulum lumen. Implicated in osteogenesis imperfecta. [provided by Alliance of Genome Resources, Apr 2025]

Canonical amino-acid sequenceUniProt

229 residues, UniProt reviewed canonical sequence.

>Q9H6E4|CCDC134
     1  MDLLQFLAFL FVLLLSGMGA TGTLRTSLDP SLEIYKKMFE VKRREQLLAL KNLAQLNDIH
    61  QQYKILDVML KGLFKVLEDS RTVLTAADVL PDGPFPQDEK LKDAFSHVVE NTAFFGDVVL
   121  RFPRIVHYYF DHNSNWNLLI RWGISFCNQT GVFNQGPHSP ILSLMAQELG ISEKDSNFQN
   181  PFKIDRTEFI PSTDPFQKAL REEEKRRKKE EKRKEIRKGP RISRSQSEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CCDC134 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
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.37
Highest tissue expression
12 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 12 nTPM
  • adrenal gland: 11 nTPM
  • epididymis: 10 nTPM
  • cerebellum: 6.5 nTPM
  • retina: 5.4 nTPM
  • parathyroid gland: 4.7 nTPM

Single-cell type

  • adrenal cortex cells: 67 nCPM
  • cone photoreceptor cells: 64 nCPM
  • neutrophils: 58 nCPM
  • extravillous trophoblasts: 54 nCPM
  • retinal horizontal cells: 54 nCPM
  • plasma cells: 53 nCPM

Immune cell

  • eosinophil: 6.9 nTPM
  • non-classical monocyte: 5.2 nTPM
  • T-reg: 5.2 nTPM
  • intermediate monocyte: 5.1 nTPM
  • naive CD4 T-cell: 4.7 nTPM
  • gdT-cell: 4.1 nTPM

Brain region

  • cerebellum: 23 nTPM
  • thalamus: 12 nTPM
  • medulla oblongata: 11 nTPM
  • white matter: 11 nTPM
  • pons: 10 nTPM
  • midbrain: 9.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CCDC134.

Disease | AllUniProt

Conditions CCDC134 is implicated in, by any mechanism.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 45 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Recurrent fractures
  • Osteogenesis imperfecta, IIA 22
  • Severe progressive deforming recessive osteogenesis imperfecta (type III)

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)
1.54
gnomAD pLI
0
gnomAD missense Z
0.01
DepMap mean gene effect
0.01
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Coiled-coil domain-containing protein 134
  • ERK and JNK pathways, inhibitor

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CCDC134 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 CCDC134 as an antibody target. Whether an autoantibody or antibody against CCDC134 could matter depends on whether native CCDC134 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CCDC134 is annotated as secreted, so native CCDC134 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label CCDC134 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CCDC134. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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