Seroatlas · Human Serome Atlas

DIP2B

Disco-interacting protein 2 homolog B

Also known as: DIP2B_HUMAN, FLJ34278, KIAA1463

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

Protein identityUniProt · HPA

UniProt accession: Q9P265
Gene: DIP2B
Ensembl: ENSG00000066084
Chromosome: 12
Canonical length: 1576 aa
Protein class: Human disease related genes, Predicted intracellular proteins
Subcellular location: Endoplasmic reticulum

OverviewNCBI Gene

This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

1576 residues, UniProt reviewed canonical sequence.

>Q9P265|DIP2B
     1  MAERGLEPSP AAVAALPPEV RAQLAELELE LSEGDITQKG YEKKRSKLLS PYSPQTQETD
    61  SAVQKELRNQ TPAPSAAQTS APSKYHRTRS GGARDERYRS DIHTEAVQAA LAKHKEQKMA
   121  LPMPTKRRST FVQSPADACT PPDTSSASED EGSLRRQAAL SAALQQSLQN AESWINRSIQ
   181  GSSTSSSASS TLSHGEVKGT SGSLADVFAN TRIENFSAPP DVTTTTSSSS SSSSIRPANI
   241  DLPPSGIVKG MHKGSNRSSL MDTADGVPVS SRVSTKIQQL LNTLKRPKRP PLKEFFVDDS
   301  EEIVEVPQPD PNQPKPEGRQ MTPVKGEPLG VICNWPPALE SALQRWGTTQ AKCSCLTALD
   361  MTGKPVYTLT YGKLWSRSLK LAYTLLNKLG TKNEPVLKPG DRVALVYPNN DPVMFMVAFY
   421  GCLLAEVIPV PIEVPLTRKD AGGQQIGFLL GSCGIALALT SEVCLKGLPK TQNGEIVQFK
   481  GWPRLKWVVT DSKYLSKPPK DWQPHISPAG TEPAYIEYKT SKEGSVMGVT VSRLAMLSHC
   541  QALSQACNYS EGETIVNVLD FKKDAGLWHG MFANVMNKMH TISVPYSVMK TCPLSWVQRV
   601  HAHKAKVALV KCRDLHWAMM AHRDQRDVSL SSLRMLIVTD GANPWSVSSC DAFLSLFQSH
   661  GLKPEAICPC ATSAEAMTVA IRRPGVPGAP LPGRAILSMN GLSYGVIRVN TEDKNSALTV
   721  QDVGHVMPGG MMCIVKPDGP PQLCKTDEIG EICVSSRTGG MMYFGLAGVT KNTFEVIPVN
   781  SAGSPVGDVP FIRSGLLGFV GPGSLVFVVG KMDGLLMVSG RRHNADDIVA TGLAVESIKT
   841  VYRGRIAVFS VSVFYDERIV VVAEQRPDAS EEDSFQWMSR VLQAIDSIHQ VGVYCLALVP
   901  ANTLPKTPLG GIHISQTKQL FLEGSLHPCN ILMCPHTCVT NLPKPRQKQP GVGPASVMVG
   961  NLVAGKRIAQ AAGRDLGQIE ENDLVRKHQF LAEILQWRAQ ATPDHVLFML LNAKGTTVCT
  1021  ASCLQLHKRA ERIASVLGDK GHLNAGDNVV LLYPPGIELI AAFYGCLYAG CIPVTVRPPH
  1081  AQNLTATLPT VRMIVDVSKA ACILTSQTLM RLLRSREAAA AVDVKTWPTI IDTDDLPRKR
  1141  LPQLYKPPTP EMLAYLDFSV STTGMLTGVK MSHSAVNALC RAIKLQCELY SSRQIAICLD
  1201  PYCGLGFALW CLCSVYSGHQ SVLIPPMELE NNLFLWLSTV NQYKIRDTFC SYSVMELCTK
  1261  GLGNQVEVLK TRGINLSCVR TCVVVAEERP RVALQQSFSK LFKDIGLSPR AVSTTFGSRV
  1321  NVAICLQGTS GPDPTTVYVD LKSLRHDRVR LVERGAPQSL LLSESGKILP GVKVVIVNPE
  1381  TKGPVGDSHL GEIWVNSPHT ASGYYTIYDS ETLQADHFNT RLSFGDAAQT LWARTGYLGF
  1441  VRRTELTAAT GERHDALYVV GALDETLELR GLRYHPIDIE TSVSRIHRSI AECAVFTWTN
  1501  LLVVVVELCG SEQEALDLVP LVTNVVLEEH YLIVGVVVVV DPGVIPINSR GEKQRMHLRD
  1561  SFLADQLDPI YVAYNM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DIP2B 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): 0.29
Highest tissue expression: 28 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 28 nTPM
cerebellum: 26 nTPM
midbrain: 20 nTPM
hippocampal formation: 18 nTPM
cerebral cortex: 17 nTPM
skin: 16 nTPM

Single-cell type

neutrophils: 1,190 nCPM
oligodendrocytes: 1,073 nCPM
microglia: 779 nCPM
ocular epithelial cells: 658 nCPM
cone photoreceptor cells: 526 nCPM
suprabasal keratinocytes: 447 nCPM

Immune cell

neutrophil: 4.9 nTPM
non-classical monocyte: 3.9 nTPM
eosinophil: 2.7 nTPM
naive B-cell: 2.2 nTPM
naive CD4 T-cell: 1.6 nTPM
intermediate monocyte: 1.4 nTPM

Brain region

white matter: 129 nTPM
basal ganglia: 100 nTPM
midbrain: 89 nTPM
pons: 85 nTPM
medulla oblongata: 84 nTPM
thalamus: 82 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DIP2B.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 290 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, FRA12A type

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): 0.27
gnomAD pLI: 1
gnomAD missense Z: 3.18
DepMap mean gene effect: -0.23
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

Molecular functions

alpha-tubulin binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DIP2B as an antibody target. Whether an autoantibody or antibody against DIP2B could matter depends on whether native DIP2B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DIP2B 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 DIP2B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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