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    NECAB2 N-terminal EF-hand calcium binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 54550, updated on 5-Mar-2024

    Summary

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    Official Symbol
    NECAB2provided by HGNC
    Official Full Name
    N-terminal EF-hand calcium binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:23746
    See related
    Ensembl:ENSG00000103154 MIM:618130; AllianceGenome:HGNC:23746
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EFCBP2; stip-2
    Summary
    The protein encoded by this gene is a neuronal calcium-binding protein that binds to and modulates the function of at least two receptors, adenosine A(2A) receptor and metabotropic glutamate receptor type 5. [provided by RefSeq, Jul 2016]
    Expression
    Biased expression in brain (RPKM 9.4), kidney (RPKM 3.0) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16q23.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (83965177..84002776)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (90031233..90068832)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (84001849..84036381)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:83841377-83841878 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:83846533-83847044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:83847045-83847556 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:83847557-83848068 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:83850559-83851758 Neighboring gene heat shock factor binding protein 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:83873977-83874624 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:83874625-83875272 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:83875273-83875919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:83879897-83880398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:83880399-83880898 Neighboring gene MPRA-validated peak2652 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr16:83912211-83912369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7770 Neighboring gene NANOG hESC enhancer GRCh37_chr16:83942352-83942873 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:83945234-83946433 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:83947165-83947672 Neighboring gene uncharacterized LOC105371372 Neighboring gene malonyl-CoA decarboxylase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7771 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:83987658-83988427 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84007063-84007564 Neighboring gene Sharpr-MPRA regulatory region 13657 Neighboring gene oxidative stress induced growth inhibitor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7773 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84035929-84036711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84050003-84050504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84060729-84061230 Neighboring gene solute carrier family 38 member 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84066580-84067080 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84075154-84075858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84075859-84076562 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:84076563-84077267 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:84077268-84077971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84078959-84079731 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84082148-84083032 Neighboring gene RNA, 5S ribosomal pseudogene 432 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84088845-84089438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84089439-84090031 Neighboring gene membrane bound transcription factor peptidase, site 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7775 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:84125154-84126353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7776

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Comparative anatomical distribution of neuronal calcium-binding protein (NECAB) 1 and -2 in rodent and human spinal cord. Zhang MD, et al. Brain Struct Funct, 2016 Sep. PMID 26843217
    2. The neuronal Ca(2+) -binding protein 2 (NECAB2) interacts with the adenosine A(2A) receptor and modulates the cell surface expression and function of the receptor. Canela L, et al. Mol Cell Neurosci, 2007 Sep. PMID 17689978
    3. The association of metabotropic glutamate receptor type 5 with the neuronal Ca2+-binding protein 2 modulates receptor function. Canela L, et al. J Neurochem, 2009 Oct. PMID 19694902
    4. NECABs: a family of neuronal Ca(2+)-binding proteins with an unusual domain structure and a restricted expression pattern. Sugita S, et al. Neuroscience, 2002. PMID 12044471
    5. Isolation and characterization of a downstream target of Pax6 in the mammalian retinal primordium. Bernier G, et al. Development, 2001 Oct. PMID 11641222

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NECAB2 is an endosomal protein important for striatal function.
      Title: NECAB2 is an endosomal protein important for striatal function.
    2. Study suggests that the phenotypic segregation of Neuronal calcium-binding protein 1 and -2 (NECAB1 and -2) to respective excitatory and inhibitory spinal systems can underpin functional modalities in determining the fidelity of synaptic neurotransmission and neuronal responsiveness, and might bear translational relevance to humans.
      Title: Comparative anatomical distribution of neuronal calcium-binding protein (NECAB) 1 and -2 in rodent and human spinal cord.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
    5. NECAB2 by its physical interaction with mGlu(5b) receptor modulates receptor function
      Title: The association of metabotropic glutamate receptor type 5 with the neuronal Ca2+-binding protein 2 modulates receptor function.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables A2A adenosine receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables type 5 metabotropic glutamate receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of G protein-coupled receptor internalization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of adenosine receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of glutamate receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein localization to membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of amyloid precursor protein biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    N-terminal EF-hand calcium-binding protein 2
    Names
    EF-hand calcium-binding protein 2
    neuronal calcium binding 2
    neuronal calcium-binding protein 2
    synaptotagmin-interacting protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001329748.1 → NP_001316677.1  N-terminal EF-hand calcium-binding protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC040169

    2. NM_001329749.2 → NP_001316678.1  N-terminal EF-hand calcium-binding protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate coding exon compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC040169
      Consensus CDS
      CCDS82019.1
      UniProtKB/Swiss-Prot
      Q7Z6G3
      Conserved Domains (1) summary
      pfam03992
      Location:205 → 275
      ABM; Antibiotic biosynthesis monooxygenase

    3. NM_019065.3 → NP_061938.2  N-terminal EF-hand calcium-binding protein 2 isoform 1

      See identical proteins and their annotated locations for NP_061938.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC040169
      Consensus CDS
      CCDS10940.1
      UniProtKB/Swiss-Prot
      A2RRG3, H3BTW2, O75547, Q6ZSK0, Q7Z6G3
      Related
      ENSP00000307449.4, ENST00000305202.9
      Conserved Domains (3) summary
      PTZ00440
      Location:79 → 211
      PTZ00440; reticulocyte binding protein 2-like protein; Provisional
      pfam03992
      Location:288 → 358
      ABM; Antibiotic biosynthesis monooxygenase
      pfam13499
      Location:64 → 123
      EF-hand_7; EF-hand domain pair

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      83965177..84002776
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434240.1 → XP_047290196.1  N-terminal EF-hand calcium-binding protein 2 isoform X1

      Related
      ENSP00000457354.1, ENST00000565691.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      90031233..90068832
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380512.1 → XP_054236487.1  N-terminal EF-hand calcium-binding protein 2 isoform X1

    2. XM_054380513.1 → XP_054236488.1  N-terminal EF-hand calcium-binding protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z6G3.1 GenPept UniProtKB/Swiss-Prot:Q7Z6G3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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