Seroatlas · Human Serome Atlas

CEMIP2

Cell surface hyaluronidase CEMIP2

Also known as: CEIP2_HUMAN, TMEM2

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

Protein identityUniProt · HPA

UniProt accession: Q9UHN6
Gene: CEMIP2
Ensembl: ENSG00000135048
Chromosome: 9
Canonical length: 1383 aa
Protein class: Enzymes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Vesicles,Plasma membrane,Cytosol

OverviewNCBI Gene

This gene encodes a type II transmembrane protein that belongs to the interferon-induced transmembrane (IFITM) protein superfamily. The encoded protein functions as a cell surface hyaluronidase that cleaves extracellular high molecular weight hyaluronan into intermediate size fragments before internalization and degradation in the lysosome. It also has an interferon-mediated antiviral function in humans through activation of the JAK STAT signaling pathway. The activation of this gene by transcription factor SOX4 in breast cancer cells has been shown to mediate the pathological effects of SOX4 on cancer progression. Naturally occurring mutations in this gene are associated with autosomal recessive non-syndromic hearing loss. [provided by RefSeq, Mar 2017]

Canonical amino-acid sequenceUniProt

1383 residues, UniProt reviewed canonical sequence.

>Q9UHN6|CEMIP2
     1  MYATDSRGHS PAFLQPQNGN SRHPSGYVPG KVVPLRPPPP PKSQASAKFT SIRREDRATF
    61  AFSPEEQQAQ RESQKQKRHK NTFICFAITS FSFFIALAII LGISSKYAPD ENCPDQNPRL
   121  RNWDPGQDSA KQVVIKEGDM LRLTSDATVH SIVIQDGGLL VFGDNKDGSR NITLRTHYIL
   181  IQDGGALHIG AEKCRYKSKA TITLYGKSDE GESMPTFGKK FIGVEAGGTL ELHGARKASW
   241  TLLARTLNSS GLPFGSYTFE KDFSRGLNVR VIDQDTAKIL ESERFDTHEY RNESRRLQEF
   301  LRFQDPGRIV AIAVGDSAAK SLLQGTIQMI QERLGSELIQ GLGYRQAWAL VGVIDGGSTS
   361  CNESVRNYEN HSSGGKALAQ REFYTVDGQK FSVTAYSEWI EGVSLSGFRV EVVDGVKLNL
   421  LDDVSSWKPG DQIVVASTDY SMYQAEEFTL LPCSECSHFQ VKVKETPQFL HMGEIIDGVD
   481  MRAEVGILTR NIVIQGEVED SCYAENQCQF FDYDTFGGHI MIMKNFTSVH LSYVELKHMG
   541  QQQMGRYPVH FHLCGDVDYK GGYRHATFVD GLSIHHSFSR CITVHGTNGL LIKDTIGFDT
   601  LGHCFFLEDG IEQRNTLFHN LGLLTKPGTL LPTDRNNSMC TTMRDKVFGN YIPVPATDCM
   661  AVSTFWIAHP NNNLINNAAA GSQDAGIWYL FHKEPTGESS GLQLLAKPEL TPLGIFYNNR
   721  VHSNFKAGLF IDKGVKTTNS SAADPREYLC LDNSARFRPH QDANPEKPRV AALIDRLIAF
   781  KNNDNGAWVR GGDIIVQNSA FADNGIGLTF ASDGSFPSDE GSSQEVSESL FVGESRNYGF
   841  QGGQNKYVGT GGIDQKPRTL PRNRTFPIRG FQIYDGPIHL TRSTFKKYVP TPDRYSSAIG
   901  FLMKNSWQIT PRNNISLVKF GPHVSLNVFF GKPGPWFEDC EMDGDKNSIF HDIDGSVTGY
   961  KDAYVGRMDN YLIRHPSCVN VSKWNAVICS GTYAQVYVQT WSTQNLSMTI TRDEYPSNPM
  1021  VLRGINQKAA FPQYQPVVML EKGYTIHWNG PAPRTTFLYL VNFNKNDWIR VGLCYPSNTS
  1081  FQVTFGYLQR QNGSLSKIEE YEPVHSLEEL QRKQSERKFY FDSSTGLLFL YLKAKSHRHG
  1141  HSYCSSQGCE RVKIQAATDS KDISNCMAKA YPQYYRKPSV VKRMPAMLTG LCQGCGTRQV
  1201  VFTSDPHKSY LPVQFQSPDK AETQRGDPSV ISVNGTDFTF RSAGVLLLVV DPCSVPFRLT
  1261  EKTVFPLADV SRIEEYLKTG IPPRSIVLLS TRGEIKQLNI SHLLVPLGLA KPAHLYDKGS
  1321  TIFLGFSGNF KPSWTKLFTS PAGQGLGVLE QFIPLQLDEY GCPRATTVRR RDLELLKQAS
  1381  KAH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CEMIP2 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: 1
Mean surface accessibility (rSASA): 0.23
Highest tissue expression: 87 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 87 nTPM
placenta: 75 nTPM
liver: 56 nTPM
gallbladder: 39 nTPM
lung: 34 nTPM
stomach: 31 nTPM

Single-cell type

nk-cells: 1,572 nCPM
t-cells: 946 nCPM
endometrial glandular cells: 762 nCPM
b-cells: 638 nCPM
urothelial cells: 533 nCPM
colonocytes: 499 nCPM

Immune cell

eosinophil: 3.1 nTPM
naive B-cell: 3 nTPM
neutrophil: 2.3 nTPM
T-reg: 2.3 nTPM
naive CD4 T-cell: 2.1 nTPM
memory CD4 T-cell: 1.5 nTPM

Brain region

hippocampal formation: 50 nTPM
choroid plexus: 42 nTPM
amygdala: 30 nTPM
cerebellum: 30 nTPM
thalamus: 28 nTPM
cerebral cortex: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CEMIP2.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 264 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

6 conditions

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
DepMap mean gene effect: -0.01
DepMap dependency class: selective

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CEMIP2 as an antibody target. Whether an autoantibody or antibody against CEMIP2 could matter depends on whether native CEMIP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CEMIP2 is annotated at the cell surface, where native CEMIP2 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 CEMIP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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