Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 137 (18 Sep 2019)
Sequence version 2 (24 Jul 2007)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Metal transporter CNNM2

Gene

CNNM2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg2+ > Co2+ > Mn2+ > Sr2+ > Ba2+ > Cu2+ > Fe2+ (By similarity).By similarity

Miscellaneous

Shares weak sequence similarity with the cyclin family, hence its name. However, it has no cyclin-like function in vivo.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processIon transport, Transport

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.112.1.6 the cyclin m mg2+ exporter (cnnm) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Metal transporter CNNM2
Alternative name(s):
Ancient conserved domain-containing protein 2
Cyclin-M2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CNNM2
Synonyms:ACDP2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:103 CNNM2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607803 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H8M5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 250ExtracellularSequence analysisAdd BLAST250
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei251 – 271HelicalSequence analysisAdd BLAST21
Topological domaini272 – 313CytoplasmicSequence analysisAdd BLAST42
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei314 – 334HelicalSequence analysisAdd BLAST21
Topological domaini335 – 338CytoplasmicSequence analysis4
Transmembranei339 – 359HelicalSequence analysisAdd BLAST21
Topological domaini360 – 368ExtracellularSequence analysis9
Transmembranei369 – 389HelicalSequence analysisAdd BLAST21
Topological domaini390 – 875CytoplasmicSequence analysisAdd BLAST486

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hypomagnesemia 6 (HOMG6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA renal disease characterized by severely lowered serum magnesium levels in the absence of other electrolyte disturbances. Affected individuals show an inappropriately normal urinary magnesium excretion, demonstrating a defect in tubular reabsorption. Age of clinical onset is highly variable and some affected individuals are asymptomatic.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_065260568T → I in HOMG6; reduced activity; electrophysiological analysis shows that magnesium-sensitive sodium currents are significantly diminished and are blocked by increased extracellular magnesium concentrations. 1 PublicationCorresponds to variant dbSNP:rs387906975EnsemblClinVar.1
Hypomagnesemia, seizures, and mental retardation 1 (HOMGSMR1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by renal wasting of magnesium, low serum magnesium, seizures, and variable degrees of delayed psychomotor development.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073848122E → K in HOMGSMR1; results in reduced protein membrane expression. 1 PublicationCorresponds to variant dbSNP:rs786205909EnsemblClinVar.1
Natural variantiVAR_073849269S → W in HOMGSMR1; results in reduced protein membrane expression; decreases cellular uptake of magnesium. 1 PublicationCorresponds to variant dbSNP:rs794726858EnsemblClinVar.1
Natural variantiVAR_073850330L → F in HOMGSMR1. 1 Publication1
Natural variantiVAR_073851357E → K in HOMGSMR1; results in decreased cellular uptake of magnesium. 1 PublicationCorresponds to variant dbSNP:rs786205910EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation, Primary hypomagnesemia

Organism-specific databases

DisGeNET

More...
DisGeNETi
54805

MalaCards human disease database

More...
MalaCardsi
CNNM2
MIMi613882 phenotype
616418 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000148842

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26669

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB09481 Magnesium carbonate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CNNM2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
156631023

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002957601 – 875Metal transporter CNNM2Add BLAST875

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi112N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei761PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9H8M5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9H8M5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H8M5

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9H8M5

PeptideAtlas

More...
PeptideAtlasi
Q9H8M5

PRoteomics IDEntifications database

More...
PRIDEi
Q9H8M5

ProteomicsDB human proteome resource

More...
ProteomicsDBi
81224 [Q9H8M5-1]
81225 [Q9H8M5-2]
81226 [Q9H8M5-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H8M5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9H8M5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Expressed at higher level in brain, kidney and placenta, while it is weakly expressed in skeletal muscle. In the kidney, it is expressed in the distal convoluted tubule and the thick ascending limb of Henle loop.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000148842 Expressed in 184 organ(s), highest expression level in secondary oocyte

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H8M5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA059954
HPA071631

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120162, 8 interactors

Protein interaction database and analysis system

More...
IntActi
Q9H8M5, 4 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000358894

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1875
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9H8M5

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini251 – 431CNNM transmembranePROSITE-ProRule annotationAdd BLAST181
Domaini450 – 511CBS 1PROSITE-ProRule annotationAdd BLAST62
Domaini518 – 584CBS 2PROSITE-ProRule annotationAdd BLAST67

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ACDP family.Curated

Keywords - Domaini

CBS domain, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2118 Eukaryota
COG1253 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159034

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H8M5

KEGG Orthology (KO)

More...
KOi
K16302

Identification of Orthologs from Complete Genome Data

More...
OMAi
VANETSH

Database of Orthologous Groups

More...
OrthoDBi
1446644at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H8M5

TreeFam database of animal gene trees

More...
TreeFami
TF101012

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000644 CBS_dom
IPR002550 CNNM

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00571 CBS, 1 hit
PF01595 DUF21, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51371 CBS, 2 hits
PS51846 CNNM, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9H8M5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MIGCGACEPK VKMAGGQAAA ALPTWKMAAR RSLSARGRGI LQAAAGRLLP
60 70 80 90 100
LLLLSCCCGA GGCAAVGENE ETVIIGLRLE DTNDVSFMEG GALRVSERTR
110 120 130 140 150
VKLRVYGQNI NNETWSRIAF TEHERRRHSP GERGLGGPAP PEPDSGPQRC
160 170 180 190 200
GIRTSDIIIL PHIILNRRTS GIIEIEIKPL RKMEKSKSYY LCTSLSTPAL
210 220 230 240 250
GAGGSGSTGG AVGGKGGSGV AGLPPPPWAE TTWIYHDGED TKMIVGEEKK
260 270 280 290 300
FLLPFWLQVI FISLLLCLSG MFSGLNLGLM ALDPMELRIV QNCGTEKEKN
310 320 330 340 350
YAKRIEPVRR QGNYLLCSLL LGNVLVNTTL TILLDDIAGS GLVAVVVSTI
360 370 380 390 400
GIVIFGEIVP QAICSRHGLA VGANTIFLTK FFMMMTFPAS YPVSKLLDCV
410 420 430 440 450
LGQEIGTVYN REKLLEMLRV TDPYNDLVKE ELNIIQGALE LRTKTVEDVM
460 470 480 490 500
TPLRDCFMIT GEAILDFNTM SEIMESGYTR IPVFEGERSN IVDLLFVKDL
510 520 530 540 550
AFVDPDDCTP LKTITKFYNH PLHFVFNDTK LDAMLEEFKK GKSHLAIVQR
560 570 580 590 600
VNNEGEGDPF YEVLGIVTLE DVIEEIIKSE ILDETDLYTD NRTKKKVAHR
610 620 630 640 650
ERKQDFSAFK QTDSEMKVKI SPQLLLAMHR FLATEVEAFS PSQMSEKILL
660 670 680 690 700
RLLKHPNVIQ ELKYDEKNKK APEYYLYQRN KPVDYFVLIL QGKVEVEAGK
710 720 730 740 750
EGMKFEASAF SYYGVMALTA SPVPLSLSRT FVVSRTELLA AGSPGENKSP
760 770 780 790 800
PRPCGLNHSD SLSRSDRIDA VTPTLGSSNN QLNSSLLQVY IPDYSVRALS
810 820 830 840 850
DLQFVKISRQ QYQNALMASR MDKTPQSSDS ENTKIELTLT ELHDGLPDET
860 870
ANLLNEQNCV THSKANHSLH NEGAI
Length:875
Mass (Da):96,623
Last modified:July 24, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i6D19F35D1B7D9A30
GO
Isoform 2 (identifier: Q9H8M5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     721-742: Missing.

Show »
Length:853
Mass (Da):94,341
Checksum:i65841388C6BF3D36
GO
Isoform 3 (identifier: Q9H8M5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     541-552: GKSHLAIVQRVN → EHTNKKPKSYQH
     553-875: Missing.

Note: No experimental confirmation available.
Show »
Length:552
Mass (Da):60,487
Checksum:iF17231FE929027E2
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAF86374 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA90926 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14386 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti299K → N in BAB14585 (PubMed:14702039).Curated1
Sequence conflicti354I → V in BAB14386 (PubMed:14702039).Curated1
Sequence conflicti475E → V in BAB14386 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06525938R → Q1 PublicationCorresponds to variant dbSNP:rs76057237EnsemblClinVar.1
Natural variantiVAR_073848122E → K in HOMGSMR1; results in reduced protein membrane expression. 1 PublicationCorresponds to variant dbSNP:rs786205909EnsemblClinVar.1
Natural variantiVAR_073849269S → W in HOMGSMR1; results in reduced protein membrane expression; decreases cellular uptake of magnesium. 1 PublicationCorresponds to variant dbSNP:rs794726858EnsemblClinVar.1
Natural variantiVAR_073850330L → F in HOMGSMR1. 1 Publication1
Natural variantiVAR_073851357E → K in HOMGSMR1; results in decreased cellular uptake of magnesium. 1 PublicationCorresponds to variant dbSNP:rs786205910EnsemblClinVar.1
Natural variantiVAR_065260568T → I in HOMG6; reduced activity; electrophysiological analysis shows that magnesium-sensitive sodium currents are significantly diminished and are blocked by increased extracellular magnesium concentrations. 1 PublicationCorresponds to variant dbSNP:rs387906975EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_027077541 – 552GKSHL…VQRVN → EHTNKKPKSYQH in isoform 3. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_027078553 – 875Missing in isoform 3. 1 PublicationAdd BLAST323
Alternative sequenceiVSP_027080721 – 742Missing in isoform 2. 1 PublicationAdd BLAST22

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK000071 mRNA Translation: BAA90926.1 Different initiation.
AK023066 mRNA Translation: BAB14386.1 Different initiation.
AK023479 mRNA Translation: BAB14585.1
AL139817 Genomic DNA No translation available.
AL356608 Genomic DNA No translation available.
BC021222 mRNA Translation: AAH21222.3
AF216962 mRNA Translation: AAF86374.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44474.1 [Q9H8M5-1]
CCDS44475.1 [Q9H8M5-2]
CCDS7543.1 [Q9H8M5-3]

NCBI Reference Sequences

More...
RefSeqi
NP_060119.3, NM_017649.4 [Q9H8M5-1]
NP_951058.1, NM_199076.2 [Q9H8M5-2]
NP_951059.1, NM_199077.2 [Q9H8M5-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000369875; ENSP00000358891; ENSG00000148842 [Q9H8M5-3]
ENST00000369878; ENSP00000358894; ENSG00000148842 [Q9H8M5-1]
ENST00000433628; ENSP00000392875; ENSG00000148842 [Q9H8M5-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
54805

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:54805

UCSC genome browser

More...
UCSCi
uc001kwl.4 human [Q9H8M5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000071 mRNA Translation: BAA90926.1 Different initiation.
AK023066 mRNA Translation: BAB14386.1 Different initiation.
AK023479 mRNA Translation: BAB14585.1
AL139817 Genomic DNA No translation available.
AL356608 Genomic DNA No translation available.
BC021222 mRNA Translation: AAH21222.3
AF216962 mRNA Translation: AAF86374.1 Different initiation.
CCDSiCCDS44474.1 [Q9H8M5-1]
CCDS44475.1 [Q9H8M5-2]
CCDS7543.1 [Q9H8M5-3]
RefSeqiNP_060119.3, NM_017649.4 [Q9H8M5-1]
NP_951058.1, NM_199076.2 [Q9H8M5-2]
NP_951059.1, NM_199077.2 [Q9H8M5-3]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4IY0X-ray1.90A429-584[»]
4IY2X-ray3.60A/C430-584[»]
4IY4X-ray2.90A/C429-584[»]
4IYSX-ray1.80A430-584[»]
6DJ3X-ray2.60A/B585-722[»]
A/B768-822[»]
SMRiQ9H8M5
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120162, 8 interactors
IntActiQ9H8M5, 4 interactors
STRINGi9606.ENSP00000358894

Chemistry databases

DrugBankiDB09481 Magnesium carbonate

Protein family/group databases

TCDBi1.A.112.1.6 the cyclin m mg2+ exporter (cnnm) family

PTM databases

iPTMnetiQ9H8M5
PhosphoSitePlusiQ9H8M5

Polymorphism and mutation databases

BioMutaiCNNM2
DMDMi156631023

Proteomic databases

jPOSTiQ9H8M5
MassIVEiQ9H8M5
MaxQBiQ9H8M5
PaxDbiQ9H8M5
PeptideAtlasiQ9H8M5
PRIDEiQ9H8M5
ProteomicsDBi81224 [Q9H8M5-1]
81225 [Q9H8M5-2]
81226 [Q9H8M5-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369875; ENSP00000358891; ENSG00000148842 [Q9H8M5-3]
ENST00000369878; ENSP00000358894; ENSG00000148842 [Q9H8M5-1]
ENST00000433628; ENSP00000392875; ENSG00000148842 [Q9H8M5-2]
GeneIDi54805
KEGGihsa:54805
UCSCiuc001kwl.4 human [Q9H8M5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
54805
DisGeNETi54805

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CNNM2
HGNCiHGNC:103 CNNM2
HPAiHPA059954
HPA071631
MalaCardsiCNNM2
MIMi607803 gene
613882 phenotype
616418 phenotype
neXtProtiNX_Q9H8M5
OpenTargetsiENSG00000148842
Orphaneti34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia
PharmGKBiPA26669

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2118 Eukaryota
COG1253 LUCA
GeneTreeiENSGT00940000159034
InParanoidiQ9H8M5
KOiK16302
OMAiVANETSH
OrthoDBi1446644at2759
PhylomeDBiQ9H8M5
TreeFamiTF101012

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CNNM2 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
54805

Pharos

More...
Pharosi
Q9H8M5

Protein Ontology

More...
PROi
PR:Q9H8M5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000148842 Expressed in 184 organ(s), highest expression level in secondary oocyte
GenevisibleiQ9H8M5 HS

Family and domain databases

InterProiView protein in InterPro
IPR000644 CBS_dom
IPR002550 CNNM
PfamiView protein in Pfam
PF00571 CBS, 1 hit
PF01595 DUF21, 1 hit
PROSITEiView protein in PROSITE
PS51371 CBS, 2 hits
PS51846 CNNM, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCNNM2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H8M5
Secondary accession number(s): Q5T569
, Q5T570, Q8WU59, Q9H952, Q9NRK5, Q9NXT4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: July 24, 2007
Last modified: September 18, 2019
This is version 137 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again