Seroatlas · Human Serome Atlas

CNNM4

Metal transporter CNNM4

Also known as: ACDP4, CNNM4_HUMAN, KIAA1592

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

Protein identityUniProt · HPA

UniProt accession
Q6P4Q7
Gene
CNNM4
Ensembl
ENSG00000158158
Chromosome
2
Canonical length
775 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Plasma membrane,Actin filaments

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 a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]

Canonical amino-acid sequenceUniProt

775 residues, UniProt reviewed canonical sequence.

>Q6P4Q7|CNNM4
     1  MAPVGGGGRP VGGPARGRLL LAAPVLLVLL WALGARGQGS PQQGTIVGMR LASCNKSCGT
    61  NPDGIIFVSE GSTVNLRLYG YSLGNISSNL ISFTEVDDAE TLHKSTSCLE LTKDLVVQQL
   121  VNVSRGNTSG VLVVLTKFLR RSESMKLYAL CTRAQPDGPW LKWTDKDSLL FMVEEPGRFL
   181  PLWLHILLIT VLLVLSGIFS GLNLGLMALD PMELRIVQNC GTEKERRYAR KIEPIRRKGN
   241  YLLCSLLLGN VLVNTSLTIL LDNLIGSGLM AVASSTIGIV IFGEILPQAL CSRHGLAVGA
   301  NTILLTKFFM LLTFPLSFPI SKLLDFFLGQ EIRTVYNREK LMEMLKVTEP YNDLVKEELN
   361  MIQGALELRT KTVEDIMTQL QDCFMIRSDA ILDFNTMSEI MESGYTRIPV FEDEQSNIVD
   421  ILYVKDLAFV DPDDCTPLKT ITRFYNHPVH FVFHDTKLDA MLEEFKKGKS HLAIVQKVNN
   481  EGEGDPFYEV LGLVTLEDVI EEIIKSEILD ESDMYTDNRS RKRVSEKNKR DFSAFKDADN
   541  ELKVKISPQL LLAAHRFLAT EVSQFSPSLI SEKILLRLLK YPDVIQELKF DEHNKYYARH
   601  YLYTRNKPAD YFILILQGKV EVEAGKENMK FETGAFSYYG TMALTSVPSD RSPAHPTPLS
   661  RSASLSYPDR TDVSTAATLA GSSNQFGSSV LGQYISDFSV RALVDLQYIK ITRQQYQNGL
   721  LASRMENSPQ FPIDGCTTHM ENLAEKSELP VVDETTTLLN ERNSLLHKAS HENAI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CNNM4 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)
0.38
Highest tissue expression
36 nTPM

Expression across tissuesHPA

Tissue

  • retina: 36 nTPM
  • rectum: 32 nTPM
  • colon: 30 nTPM
  • skeletal muscle: 23 nTPM
  • cerebellum: 20 nTPM
  • tongue: 12 nTPM

Single-cell type

  • cone photoreceptor cells: 186 nCPM
  • colonocytes: 143 nCPM
  • rod photoreceptor cells: 130 nCPM
  • myonuclei: 90 nCPM
  • retinal bipolar cells: 81 nCPM
  • retinal horizontal cells: 80 nCPM

Immune cell

  • basophil: 1.2 nTPM
  • memory B-cell: 0.9 nTPM
  • gdT-cell: 0.8 nTPM
  • non-classical monocyte: 0.7 nTPM
  • myeloid DC: 0.6 nTPM
  • naive B-cell: 0.5 nTPM

Brain region

  • cerebellum: 24 nTPM
  • cerebral cortex: 14 nTPM
  • white matter: 12 nTPM
  • basal ganglia: 11 nTPM
  • thalamus: 9.9 nTPM
  • midbrain: 9.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CNNM4.

Disease | AllUniProt

Conditions CNNM4 is implicated in, by any mechanism.

Disease | GeneticClinVar

48 pathogenic / likely-pathogenic of 577 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.94
gnomAD pLI
0
gnomAD missense Z
2.37
DepMap mean gene effect
-0.06
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 CNNM4 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 CNNM4 as an antibody target. Whether an autoantibody or antibody against CNNM4 could matter depends on whether native CNNM4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CNNM4 is annotated at the cell surface, where native CNNM4 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 CNNM4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CNNM4. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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