Seroatlas · Human Serome Atlas

C2CD3

C2 domain-containing protein 3

Also known as: C2CD3_HUMAN, DKFZP586P0123

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

Protein identityUniProt · HPA

UniProt accession: Q4AC94
Gene: C2CD3
Ensembl: ENSG00000168014
Chromosome: 11
Canonical length: 2353 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Centrosome,Basal body,Acrosome,Equatorial segment,Principal piece

OverviewNCBI Gene

This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Canonical amino-acid sequenceUniProt

2353 residues, UniProt reviewed canonical sequence.

>Q4AC94|C2CD3
     1  MKQRKGQGSG GSRGRKKRGL SDISPSTSLP PLVEGQLRCF LKLTVNRVIW KIAKPPTCVL
    61  VRVRWWGETS DGTLFCPRDA LQTEPKAVRT TTRYAIRCGP KQFTSYLTDM AVLVLEVITK
   121  LDGLPIGRVQ INGLAQLSPT HQINGFFTIV SSTSKKLGEL QVSLALEPLS ETYDSYHPLP
   181  TTDMTENVLL SKQGFRENTE PSSTQFQVPS RPRDIHTIKI DGKELAANSS RSTTPRGKDH
   241  VCFAENPDTI KDSSFGLQHS LNSGQSLESV TLKGRAPRKQ MSLLNSSEFQ PQIRTVAKSH
   301  SDSCILSSNN LPTKDLLSAL LEQGNKLRNA MVISAMKSSP ETSMLLDQVH PPINEDSLRA
   361  STQIRAFSRN RFKDHIEDHL LPSTENTFWR HDTKADTRAI QLLLGSAELS QGNFWDGLGS
   421  PPDSPSPGSD VYCISELNDP QYDQSLLENL FYTAPKSDTS ISDFLSEEDD IVPSKKISQS
   481  TALARSSKVL ESSDHKLKKR SAGKRNRNLV EQQMLSETPE DAQTMTLSVD RLALLGRTHS
   541  VRIIIETMGV PPDSPQMTPG KKSYAGPPPK VTTAKKRTFF VEYHFPVGFS ESGLGKTALI
   601  TEVVRLASSK ITDGKVKFQQ RFVFPVQFGG PMIEHWWNSN LTFQIYVKKT PQKKPEVIGS
   661  VSLSLRAVIQ SELLSFSDQL PVQQENGQSP FGPLKVTMEL ITDNKDFTGI NTKLSGNTHY
   721  TPLCAPTSPN KALPELNQDM TCTKNPQNLN QIHEETAKKA QNLVLPNRKS PSPVAPHPST
   781  FVATPASHNL VNQTNGTTKE SALLLHVLLM VPDGKDFISG ESEKQSPCNV YLNCKLFSTE
   841  EVTRSVIAWG TTQPVFNFSQ VIPVSLSSKY LERLKNNVMV IETWNKVRSP GQDKLLGLVK
   901  LPLHQFYMSF KDAKISRLLL DAQYPVVAVD SYMPVIDVFS GHQNGSLRVF LAMGSSNQIM
   961  ALQRLKNEEG TLPPFSPRPA HFLDQPTAAS VAMAEDRGNG LMEHCFEIHI EMVKGLAPLQ
  1021  ATVWGEADCY VQYYFPVQHS QSSVLKGPEF LENGITLKPF RTATTLCVPD PIFNSEHHHS
  1081  LLLPAEVPVQ RLLLSAFSAQ GLVPGGGVQF EIWCRYYYPN VRDQKVAKGT LPLSRICAMV
  1141  TTQHREDVGI QTFNLPLTPR IENRKELRNQ SSGLLDVGLR YRRSPRTAEG VLAARTVSIS
  1201  VQIIRACGLQ AAAKALAERE PALQFSATVG VNASVTTHLS FLPQGEQRRT HPVACSFCPE
  1261  FSHHVEFTCN LVTQHCSGEA CFLAELLEFA EVIFAVYHEN TKSASDIISI ESCKEYLLGV
  1321  VKVPTKELLI KRSGITGWYP IILPEDGGLP HGLELMQKIV GGLELSISFT HRGDRERVLE
  1381  AAEHLGWSFE NSLKDFVRMD EGEPATVTIS TPRLWLPIHC VLLAGHNHIH KNTYCYLRYK
  1441  FYDHEAFWTP LKKPKESVNK KQIMVTFKAS KRAEVTRGPS LLWYFREERL EIQVWRAYGN
  1501  DSVERPHQTD SWIGSAYVDL ARLGERSART LTVSGVYPLF GRNASNLSGA ALRVHVVLSS
  1561  LSSHLEPTHE LDSMDCSSHS ESEQLPRRND EVQLSPPEVI SCHQKSPAST QVPCSSTTAE
  1621  VRLTQEGPAD LDGTFAVSIL VERAMHLSLK GSPLTERKVS IPSCCVSFAT ADESSPVYTQ
  1681  VVENTDSPIW NFQQQSRLSK ELLLDPQQTL VFKVWHKGDE ERVIGFASVD LSPLLSGFQF
  1741  VCGWYNITDF SGECQGQIKV AVSPLESLIH FKEERQARRG VETSKSLIPI YSPFSFPASD
  1801  TYAAFSSHMA RQTLDQLAHA SSKELDFSSP GRSDTTRSQA SRHEEHVQNI RRFHESLHLQ
  1861  GEAPLPCDDK LTTSPLSSQT SILTSLRKNL SELDQIQRYF RQKLTKPFLP LSPQTQTAIS
  1921  QHQESCRDHL GPGASSLDPG SQCILEKSSN LVLQVSSLIT DLQTITRDSQ AALSSHRARS
  1981  RSNKATTLPD AQDTEALQER CTMPDEPLVR APDKGTDSPS PPPLEETSNG GRMLHESLRH
  2041  AVPITRMQSS EDTEAGPAYS DEDYEEDIIE PRTLNEITTV TDKTSPWSSV ISDTSEVISP
  2101  QPDEVQREGP SCPSPGPFCR EELMVKSSFL SSPERAVNPH LPRQGSPSQS LVACECEASK
  2161  ARVGGESASA NPQPIPCPTL SGAQQSSTFV GWSSPQTDQN KEPKSEAPAE NEAATSELGD
  2221  SADSFKKLPL NLASQSRREN HKGPPIDSSD IRQRQVTTGS ETSTKQSLLL PGPIVVPNFF
  2281  LPPQQLEASL RMLSLSATLP PAATTDQDKS EATRGALSQR PCRPRPNSLP LNLPEEETLR
  2341  IARIFSSQYS QKD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against C2CD3 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): 0.48
Highest tissue expression: 10 nTPM

Expression across tissuesHPA

Tissue

testis: 10 nTPM
bone marrow: 9.5 nTPM
choroid plexus: 8.4 nTPM
retina: 7.7 nTPM
fallopian tube: 7.4 nTPM
thymus: 7.3 nTPM

Single-cell type

neutrophils: 130 nCPM
respiratory ciliated cells: 112 nCPM
endometrial ciliated cells: 109 nCPM
ependymal cells: 103 nCPM
somatotrophs: 101 nCPM
thyrotrophs: 101 nCPM

Immune cell

basophil: 22 nTPM
neutrophil: 13 nTPM
naive B-cell: 5.7 nTPM
non-classical monocyte: 4.8 nTPM
eosinophil: 3.3 nTPM
memory B-cell: 3.3 nTPM

Brain region

cerebellum: 66 nTPM
white matter: 61 nTPM
hippocampal formation: 59 nTPM
cerebral cortex: 58 nTPM
medulla oblongata: 56 nTPM
choroid plexus: 56 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about C2CD3.

Disease | AllUniProt

Conditions C2CD3 is implicated in, by any mechanism.

Orofaciodigital syndrome 14 (OFD14) MIM:615948

Disease | GeneticClinVar

85 pathogenic / likely-pathogenic of 1,226 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Orofaciodigital syndrome type 14
Fetal anomalies with a likely genetic cause
Joubert syndrome
C2CD3-related disorder
Malignant tumor of urinary bladder

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): 0.64
gnomAD pLI: 0
gnomAD missense Z: 0.53
DepMap mean gene effect: 0.06
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

C2 domain
C2 domain superfamily
C2 domain
C2CD3, C2 domain
C2CD3, N-terminal C2 domain
N-terminal C2 domain of C2CD3 protein

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of C2CD3 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 C2CD3 as an antibody target. Whether an autoantibody or antibody against C2CD3 could matter depends on whether native C2CD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

C2CD3 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 C2CD3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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