DIP2C
Disco-interacting protein 2 homolog C
Also known as: DIP2C_HUMAN, KIAA0934
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y2E4
- Gene
- DIP2C
- Ensembl
- ENSG00000151240
- Chromosome
- 10
- Canonical length
- 1556 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Vesicles,Cytosol
OverviewNCBI Gene
This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008]
Canonical amino-acid sequenceUniProt
1556 residues, UniProt reviewed canonical sequence.
>Q9Y2E4|DIP2C
1 MADRSLEGMA LPLEVRARLA ELELELSEGD ITQKGYEKKR SKLIGAYLPQ PPRVDQALPQ
61 ERRAPVTPSS ASRYHRRRSS GSRDERYRSD VHTEAVQAAL AKHKERKMAV PMPSKRRSLV
121 VQTSMDAYTP PDTSSGSEDE GSVQGDSQGT PTSSQGSINM EHWISQAIHG STTSTTSSSS
181 TQSGGSGAAH RLADVMAQTH IENHSAPPDV TTYTSEHSIQ VERPQGSTGS RTAPKYGNAE
241 LMETGDGVPV SSRVSAKIQQ LVNTLKRPKR PPLREFFVDD FEELLEVQQP DPNQPKPEGA
301 QMLAMRGEQL GVVTNWPPSL EAALQRWGTI SPKAPCLTTM DTNGKPLYIL TYGKLWTRSM
361 KVAYSILHKL GTKQEPMVRP GDRVALVFPN NDPAAFMAAF YGCLLAEVVP VPIEVPLTRK
421 DAGSQQIGFL LGSCGVTVAL TSDACHKGLP KSPTGEIPQF KGWPKLLWFV TESKHLSKPP
481 RDWFPHIKDA NNDTAYIEYK TCKDGSVLGV TVTRTALLTH CQALTQACGY TEAETIVNVL
541 DFKKDVGLWH GILTSVMNMM HVISIPYSLM KVNPLSWIQK VCQYKAKVAC VKSRDMHWAL
601 VAHRDQRDIN LSSLRMLIVA DGANPWSISS CDAFLNVFQS KGLRQEVICP CASSPEALTV
661 AIRRPTDDSN QPPGRGVLSM HGLTYGVIRV DSEEKLSVLT VQDVGLVMPG AIMCSVKPDG
721 VPQLCRTDEI GELCVCAVAT GTSYYGLSGM TKNTFEVFPM TSSGAPISEY PFIRTGLLGF
781 VGPGGLVFVV GKMDGLMVVS GRRHNADDIV ATALAVEPMK FVYRGRIAVF SVTVLHDERI
841 VIVAEQRPDS TEEDSFQWMS RVLQAIDSIH QVGVYCLALV PANTLPKTPL GGIHLSETKQ
901 LFLEGSLHPC NVLMCPHTCV TNLPKPRQKQ PEIGPASVMV GNLVSGKRIA QASGRDLGQI
961 EDNDQARKFL FLSEVLQWRA QTTPDHILYT LLNCRGAIAN SLTCVQLHKR AEKIAVMLME
1021 RGHLQDGDHV ALVYPPGIDL IAAFYGCLYA GCVPITVRPP HPQNIATTLP TVKMIVEVSR
1081 SACLMTTQLI CKLLRSREAA AAVDVRTWPL ILDTDDLPKK RPAQICKPCN PDTLAYLDFS
1141 VSTTGMLAGV KMSHAATSAF CRSIKLQCEL YPSREVAICL DPYCGLGFVL WCLCSVYSGH
1201 QSILIPPSEL ETNPALWLLA VSQYKVRDTF CSYSVMELCT KGLGSQTESL KARGLDLSRV
1261 RTCVVVAEER PRIALTQSFS KLFKDLGLHP RAVSTSFGCR VNLAICLQGT SGPDPTTVYV
1321 DMRALRHDRV RLVERGSPHS LPLMESGKIL PGVRIIIANP ETKGPLGDSH LGEIWVHSAH
1381 NASGYFTIYG DESLQSDHFN SRLSFGDTQT IWARTGYLGF LRRTELTDAN GERHDALYVV
1441 GALDEAMELR GMRYHPIDIE TSVIRAHKSV TECAVFTWTN LLVVVVELDG SEQEALDLVP
1501 LVTNVVLEEH YLIVGVVVVV DIGVIPINSR GEKQRMHLRD GFLADQLDPI YVAYNMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DIP2C 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)
- 0.28
- Highest tissue expression
- 32 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 32 nTPM
- colon: 21 nTPM
- blood vessel: 21 nTPM
- tongue: 19 nTPM
- kidney: 14 nTPM
- heart muscle: 13 nTPM
Single-cell type
- renal collecting duct intercalated cells: 797 nCPM
- proximal tubule cells: 743 nCPM
- oligodendrocytes: 735 nCPM
- lactotrophs: 552 nCPM
- melanocytes: 522 nCPM
- somatotrophs: 515 nCPM
Immune cell
- naive B-cell: 1 nTPM
- memory B-cell: 0.7 nTPM
- naive CD4 T-cell: 0.3 nTPM
- naive CD8 T-cell: 0.3 nTPM
- memory CD4 T-cell: 0.2 nTPM
- memory CD8 T-cell: 0.2 nTPM
Brain region
- white matter: 96 nTPM
- cerebral cortex: 76 nTPM
- cerebellum: 71 nTPM
- basal ganglia: 70 nTPM
- thalamus: 70 nTPM
- pons: 68 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DIP2C.
Disease | GeneticClinVar
21 pathogenic / likely-pathogenic of 1,074 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Inborn genetic diseases
- DIP2C-related disorder
- Neurodevelopmental disorder
- DIP2C-related neurodevelopmental disorder
- DIP2C-related developmental disorder with speech delay
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)
- 0.15
- gnomAD pLI
- 1
- gnomAD missense Z
- 4.67
- DepMap mean gene effect
- 0.2
- DepMap dependency class
- none
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
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DIP2C as an antibody target. Whether an autoantibody or antibody against DIP2C could matter depends on whether native DIP2C is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DIP2C 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 DIP2C as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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