DIP2A
Disco-interacting protein 2 homolog A
Also known as: C21orf106, Dip2, DIP2A_HUMAN, KIAA0184
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q14689
- Gene
- DIP2A
- Ensembl
- ENSG00000160305
- Chromosome
- 21
- Canonical length
- 1571 aa
- Protein class
- Enzymes, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Canonical amino-acid sequenceUniProt
1571 residues, UniProt reviewed canonical sequence.
>Q14689|DIP2A
1 MADRGCPLEA APLPAEVRES LAELELELSE GDITQKGYEK KRAKLLARYI PLIQGIDPSL
61 QAENRIPGPS QTTAAAPKQQ KSRPTASRDE RFRSDVHTEA VQAALAKYKE RKMPMPSKRR
121 SVLVHSSVET YTPPDTSSAS EDEGSLRRPG RLTSTPLQSH SSVEPWLDRV IQGSSTSSSA
181 SSTSSHPGGR PTTAPSAAAT PGAAATTALA GLEAHTHIDL HSAPPDVTTG LVEHSYFERP
241 QVASVRSVPR GCSGSMLETA DGVPVNSRVS SKIQQLLNTL KRPKRPPLKE FFVDDFEELL
301 EVQQPDPNQP KPEGSETSVL RGEPLTAGVP RPPSLLATLQ RWGTTQPKSP CLTALDTTGK
361 AVYTLTYGKL WSRSLKLAYT LLNKLTSKNE PLLKPGDRVA LVFPNSDPVM FMVAFYGCLL
421 AELVPVPIEV PLTRKDAGSQ QVGFLLGSCG VFLALTTDAC QKGLPKAQTG EVAAFKGWPP
481 LSWLVIDGKH LAKPPKDWHP LAQDTGTGTA YIEYKTSKEG STVGVTVSHA SLLAQCRALT
541 QACGYSEAET LTNVLDFKRD AGLWHGVLTS VMNRMHVVSV PYALMKANPL SWIQKVCFYK
601 ARAALVKSRD MHWSLLAQRG QRDVSLSSLR MLIVADGANP WSISSCDAFL NVFQSRGLRP
661 EVICPCASSP EALTVAIRRP PDLGGPPPRK AVLSMNGLSY GVIRVDTEEK LSVLTVQDVG
721 QVMPGANVCV VKLEGTPYLC KTDEVGEICV SSSATGTAYY GLLGITKNVF EAVPVTTGGA
781 PIFDRPFTRT GLLGFIGPDN LVFIVGKLDG LMVTGVRRHN ADDVVATALA VEPMKFVYRG
841 RIAVFSVTVL HDDRIVLVAE QRPDASEEDS FQWMSRVLQA IDSIHQVGVY CLALVPANTL
901 PKAPLGGIHI SETKQRFLEG TLHPCNVLMC PHTCVTNLPK PRQKQPEVGP ASMIVGNLVA
961 GKRIAQASGR ELAHLEDSDQ ARKFLFLADV LQWRAHTTPD HPLFLLLNAK GTVTSTATCV
1021 QLHKRAERVA AALMEKGRLS VGDHVALVYP PGVDLIAAFY GCLYCGCVPV TVRPPHPQNL
1081 GTTLPTVKMI VEVSKSACVL TTQAVTRLLR SKEAAAAVDI RTWPTILDTD DIPKKKIASV
1141 FRPPSPDVLA YLDFSVSTTG ILAGVKMSHA ATSALCRSIK LQCELYPSRQ IAICLDPYCG
1201 LGFALWCLCS VYSGHQSVLV PPLELESNVS LWLSAVSQYK ARVTFCSYSV MEMCTKGLGA
1261 QTGVLRMKGV NLSCVRTCMV VAEERPRIAL TQSFSKLFKD LGLPARAVST TFGCRVNVAI
1321 CLQGTAGPDP TTVYVDMRAL RHDRVRLVER GSPHSLPLME SGKILPGVKV IIAHTETKGP
1381 LGDSHLGEIW VSSPHNATGY YTVYGEEALH ADHFSARLSF GDTQTIWART GYLGFLRRTE
1441 LTDASGGRHD ALYVVGSLDE TLELRGMRYH PIDIETSVIR AHRSIAECAV FTWTNLLVVV
1501 VELDGLEQDA LDLVALVTNV VLEEHYLVVG VVVIVDPGVI PINSRGEKQR MHLRDGFLAD
1561 QLDPIYVAYN MLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DIP2A 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 9.8 nTPM
Expression across tissuesHPA
Tissue
- retina: 9.8 nTPM
- bone marrow: 9.3 nTPM
- spleen: 8.4 nTPM
- heart muscle: 7.9 nTPM
- small intestine: 6.9 nTPM
- lymph node: 6.8 nTPM
Single-cell type
- rod photoreceptor cells: 396 nCPM
- microglia: 322 nCPM
- neutrophil progenitors: 298 nCPM
- nk-cells: 279 nCPM
- cone photoreceptor cells: 176 nCPM
- oligodendrocytes: 167 nCPM
Immune cell
- gdT-cell: 14 nTPM
- eosinophil: 13 nTPM
- basophil: 12 nTPM
- plasmacytoid DC: 11 nTPM
- neutrophil: 10 nTPM
- NK-cell: 10 nTPM
Brain region
- white matter: 52 nTPM
- cerebral cortex: 38 nTPM
- medulla oblongata: 38 nTPM
- pons: 37 nTPM
- thalamus: 37 nTPM
- basal ganglia: 36 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DIP2A.
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 301 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Disease | ImmuneIEDB
Conditions an epitope on DIP2A was assayed in.
- narcolepsy B cell
- multiple sclerosis B cell
- peripheral nervous system disease B cell
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)
- 0.35
- gnomAD pLI
- 0.11
- gnomAD missense Z
- 2.62
- DepMap mean gene effect
- -0.01
- 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).
OntologyGO
Biological processes
- acetyl-CoA biosynthetic process
- dendritic spine morphogenesis
- negative regulation of gene expression
- positive regulation of peptidyl-lysine acetylation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DIP2A 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 DIP2A as an antibody target. Whether an autoantibody or antibody against DIP2A could matter depends on whether native DIP2A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DIP2A is annotated at the cell surface, where native DIP2A is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label DIP2A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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