Seroatlas · Human Serome Atlas

ADAM22

Disintegrin and metalloproteinase domain-containing protein 22

Also known as: ADA22_HUMAN, MDC2

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

Protein identityUniProt · HPA

UniProt accession: Q9P0K1
Gene: ADAM22
Ensembl: ENSG00000008277
Chromosome: 7
Canonical length: 906 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Cell Junctions

OverviewNCBI Gene

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Unlike other members of the ADAM protein family, the protein encoded by this gene lacks metalloprotease activity since it has no zinc-binding motif. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. In mice, it has been shown to be essential for correct myelination in the peripheral nervous system. Alternative splicing results in several transcript variants.[provided by RefSeq, Dec 2010]

Canonical amino-acid sequenceUniProt

906 residues, UniProt reviewed canonical sequence.

>Q9P0K1|ADAM22
     1  MQAAVAVSVP FLLLCVLGTC PPARCGQAGD ASLMELEKRK ENRFVERQSI VPLRLIYRSG
    61  GEDESRHDAL DTRVRGDLGG PQLTHVDQAS FQVDAFGTSF ILDVVLNHDL LSSEYIERHI
   121  EHGGKTVEVK GGEHCYYQGH IRGNPDSFVA LSTCHGLHGM FYDGNHTYLI EPEENDTTQE
   181  DFHFHSVYKS RLFEFSLDDL PSEFQQVNIT PSKFILKPRP KRSKRQLRRY PRNVEEETKY
   241  IELMIVNDHL MFKKHRLSVV HTNTYAKSVV NMADLIYKDQ LKTRIVLVAM ETWATDNKFA
   301  ISENPLITLR EFMKYRRDFI KEKSDAVHLF SGSQFESSRS GAAYIGGICS LLKGGGVNEF
   361  GKTDLMAVTL AQSLAHNIGI ISDKRKLASG ECKCEDTWSG CIMGDTGYYL PKKFTQCNIE
   421  EYHDFLNSGG GACLFNKPSK LLDPPECGNG FIETGEECDC GTPAECVLEG AECCKKCTLT
   481  QDSQCSDGLC CKKCKFQPMG TVCREAVNDC DIRETCSGNS SQCAPNIHKM DGYSCDGVQG
   541  ICFGGRCKTR DRQCKYIWGQ KVTASDKYCY EKLNIEGTEK GNCGKDKDTW IQCNKRDVLC
   601  GYLLCTNIGN IPRLGELDGE ITSTLVVQQG RTLNCSGGHV KLEEDVDLGY VEDGTPCGPQ
   661  MMCLEHRCLP VASFNFSTCL SSKEGTICSG NGVCSNELKC VCNRHWIGSD CNTYFPHNDD
   721  AKTGITLSGN GVAGTNIIIG IIAGTILVLA LILGITAWGY KNYREQRQLP QGDYVKKPGD
   781  GDSFYSDIPP GVSTNSASSS KKRSNGLSHS WSERIPDTKH ISDICENGRP RSNSWQGNLG
   841  GNKKKIRGKR FRPRSNSTET LSPAKSPSSS TGSIASSRKY PYPMPPLPDE DKKVNRQSAR
   901  LWETSI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ADAM22 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): 0.38
Highest tissue expression: 48 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 48 nTPM
cerebral cortex: 25 nTPM
hypothalamus: 10 nTPM
hippocampal formation: 10 nTPM
prostate: 9.9 nTPM
basal ganglia: 9.6 nTPM

Single-cell type

bergmann glia: 488 nCPM
brain excitatory neurons: 479 nCPM
brain inhibitory neurons: 289 nCPM
oligodendrocyte progenitor cells: 281 nCPM
retinal amacrine cells: 277 nCPM
retinal ganglion cells: 270 nCPM

Immune cell

basophil: 0.5 nTPM
naive CD4 T-cell: 0.2 nTPM
naive CD8 T-cell: 0.2 nTPM
plasmacytoid DC: 0.2 nTPM
gdT-cell: 0.1 nTPM
memory CD8 T-cell: 0.1 nTPM

Brain region

cerebellum: 168 nTPM
cerebral cortex: 91 nTPM
pons: 66 nTPM
thalamus: 65 nTPM
hippocampal formation: 61 nTPM
white matter: 60 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ADAM22.

Disease | AllUniProt

Conditions ADAM22 is implicated in, by any mechanism.

Developmental and epileptic encephalopathy 61 (DEE61) MIM:617933

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 193 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Developmental and epileptic encephalopathy, 61
ADAM22-related disorder

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): 0.36
gnomAD pLI: 0.25
gnomAD missense Z: 2.34
DepMap mean gene effect: -0.05
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

InteractionsUniProt · HPA

Protein binding partners of ADAM22 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 ADAM22 as an antibody target. Whether an autoantibody or antibody against ADAM22 could matter depends on whether native ADAM22 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ADAM22 is annotated at the cell surface, where native ADAM22 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 ADAM22 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...