Seroatlas · Human Serome Atlas

CNNM2

Metal transporter CNNM2

Also known as: ACDP2, CNNM2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9H8M5
Gene: CNNM2
Ensembl: ENSG00000148842
Chromosome: 10
Canonical length: 875 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location: Vesicles

OverviewNCBI Gene

This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

875 residues, UniProt reviewed canonical sequence.

>Q9H8M5|CNNM2
     1  MIGCGACEPK VKMAGGQAAA ALPTWKMAAR RSLSARGRGI LQAAAGRLLP LLLLSCCCGA
    61  GGCAAVGENE ETVIIGLRLE DTNDVSFMEG GALRVSERTR VKLRVYGQNI NNETWSRIAF
   121  TEHERRRHSP GERGLGGPAP PEPDSGPQRC GIRTSDIIIL PHIILNRRTS GIIEIEIKPL
   181  RKMEKSKSYY LCTSLSTPAL GAGGSGSTGG AVGGKGGSGV AGLPPPPWAE TTWIYHDGED
   241  TKMIVGEEKK FLLPFWLQVI FISLLLCLSG MFSGLNLGLM ALDPMELRIV QNCGTEKEKN
   301  YAKRIEPVRR QGNYLLCSLL LGNVLVNTTL TILLDDIAGS GLVAVVVSTI GIVIFGEIVP
   361  QAICSRHGLA VGANTIFLTK FFMMMTFPAS YPVSKLLDCV LGQEIGTVYN REKLLEMLRV
   421  TDPYNDLVKE ELNIIQGALE LRTKTVEDVM TPLRDCFMIT GEAILDFNTM SEIMESGYTR
   481  IPVFEGERSN IVDLLFVKDL AFVDPDDCTP LKTITKFYNH PLHFVFNDTK LDAMLEEFKK
   541  GKSHLAIVQR VNNEGEGDPF YEVLGIVTLE DVIEEIIKSE ILDETDLYTD NRTKKKVAHR
   601  ERKQDFSAFK QTDSEMKVKI SPQLLLAMHR FLATEVEAFS PSQMSEKILL RLLKHPNVIQ
   661  ELKYDEKNKK APEYYLYQRN KPVDYFVLIL QGKVEVEAGK EGMKFEASAF SYYGVMALTA
   721  SPVPLSLSRT FVVSRTELLA AGSPGENKSP PRPCGLNHSD SLSRSDRIDA VTPTLGSSNN
   781  QLNSSLLQVY IPDYSVRALS DLQFVKISRQ QYQNALMASR MDKTPQSSDS ENTKIELTLT
   841  ELHDGLPDET ANLLNEQNCV THSKANHSLH NEGAI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CNNM2 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: 3
Mean surface accessibility (rSASA): 0.42
Highest tissue expression: 30 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 30 nTPM
choroid plexus: 22 nTPM
adrenal gland: 11 nTPM
blood vessel: 10 nTPM
bone marrow: 8.8 nTPM
kidney: 8.5 nTPM

Single-cell type

distal convoluted tubule cells: 1,824 nCPM
choroid plexus epithelial cells: 1,055 nCPM
syncytiotrophoblasts: 380 nCPM
adrenal cortex cells: 348 nCPM
renal connecting tubule cells: 267 nCPM
respiratory ciliated cells: 248 nCPM

Immune cell

NK-cell: 1.5 nTPM
basophil: 0.3 nTPM
memory B-cell: 0.3 nTPM
plasmacytoid DC: 0.3 nTPM
T-reg: 0.3 nTPM
gdT-cell: 0.2 nTPM

Brain region

choroid plexus: 102 nTPM
white matter: 40 nTPM
cerebellum: 37 nTPM
basal ganglia: 33 nTPM
medulla oblongata: 32 nTPM
midbrain: 32 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CNNM2.

Disease | AllUniProt

Conditions CNNM2 is implicated in, by any mechanism.

Hypomagnesemia 6 (HOMG6) MIM:613882
Hypomagnesemia, seizures, and impaired intellectual development 1 (HOMGSMR1) MIM:616418

Disease | GeneticClinVar

39 pathogenic / likely-pathogenic of 496 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hypomagnesemia, seizures, and intellectual disability 1
Renal hypomagnesemia 6
Moyamoya angiopathy
Hypomagnesemia
See cases

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: 4.41
DepMap mean gene effect: -0.02
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

magnesium ion homeostasis

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CNNM2 as an antibody target. Whether an autoantibody or antibody against CNNM2 could matter depends on whether native CNNM2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CNNM2 is annotated at the cell surface, where native CNNM2 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 CNNM2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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