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    CRACR2B calcium release activated channel regulator 2B [ Homo sapiens (human) ]

    Gene ID: 283229, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CRACR2Bprovided by HGNC
    Official Full Name
    calcium release activated channel regulator 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:28703
    See related
    Ensembl:ENSG00000177685 MIM:614177; AllianceGenome:HGNC:28703
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EFCAB4A
    Summary
    Predicted to enable calcium ion binding activity. Involved in store-operated calcium entry. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in salivary gland (RPKM 19.1), stomach (RPKM 14.0) and 12 other tissues See more
    Orthologs
    mouse all
    NEW
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    Genomic context

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    See CRACR2B in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (826157..831991)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (877475..883426)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (827919..831991)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:811306-812046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:812047-812787 Neighboring gene ribosomal protein lateral stalk subunit P2 Neighboring gene small nucleolar RNA, H/ACA box 52 Neighboring gene Sharpr-MPRA regulatory region 11801 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3036 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4287 Neighboring gene patatin like phospholipase domain containing 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:827342-827880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:828421-828958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:828959-829498 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:829499-830036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:831115-831654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:831655-832192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3041 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:834349-834888 Neighboring gene CD151 molecule (Raph blood group) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:837986-838960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:840788-841532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:841533-842278 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:842279-843022 Neighboring gene RNA polymerase II, I and III subunit L

    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. A novel EF-hand protein, CRACR2A, is a cytosolic Ca2+ sensor that stabilizes CRAC channels in T cells. Srikanth S, et al. Nat Cell Biol, 2010 May. PMID 20418871, Free PMC Article
    2. Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. Lee JH, et al. Respir Res, 2014 Sep 21. PMID 25241909, Free PMC Article
    3. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. Daakour S, et al. BMC Cancer, 2016 May 26. PMID 27229929, Free PMC Article
    4. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. Chen Y, et al. Mol Cell Proteomics, 2013 Oct. PMID 23824909, Free PMC Article
    5. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ46033, MGC45840, MGC88858

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in store-operated calcium entry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    EF-hand calcium-binding domain-containing protein 4A
    Names
    CRAC channel regulator 2B
    CRAC regulator 2B
    Ca2+ release-activated Ca2+ (CRAC) channel regulator 2B
    EF-hand calcium binding domain 4A
    calcium release-activated calcium channel regulator 2B

    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_001286606.2 → NP_001273535.1  EF-hand calcium-binding domain-containing protein 4A isoform 1

      See identical proteins and their annotated locations for NP_001273535.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK097334, AP006621, BC073821, BU621015, GU952799
      Consensus CDS
      CCDS65995.1
      UniProtKB/Swiss-Prot
      D5LPR2, Q8N4Y2, Q8NBW8
      Related
      ENSP00000435299.1, ENST00000525077.2
      Conserved Domains (2) summary
      pfam13499
      Location:34 → 89
      EF-hand_7; EF-hand domain pair
      cl08302
      Location:33 → 89
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    2. NM_173584.4 → NP_775855.3  EF-hand calcium-binding domain-containing protein 4A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      BC033196, BC073821, BG674461, BU621015, BX104079, GU952799
      Consensus CDS
      CCDS41588.1
      UniProtKB/Swiss-Prot
      Q8N4Y2
      Related
      ENSP00000409256.1, ENST00000450448.5
      Conserved Domains (2) summary
      pfam13499
      Location:34 → 89
      EF-hand_7; EF-hand domain pair
      cl08302
      Location:33 → 89
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      826157..831991
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017582.2 → XP_016873071.1  EF-hand calcium-binding domain-containing protein 4A isoform X1

    2. XM_047426806.1 → XP_047282762.1  EF-hand calcium-binding domain-containing protein 4A isoform X6

    3. XM_017017590.2 → XP_016873079.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

      UniProtKB/TrEMBL
      Q6ZRW4

    4. XM_047426814.1 → XP_047282770.1  EF-hand calcium-binding domain-containing protein 4A isoform X11

    5. XM_017017583.2 → XP_016873072.1  EF-hand calcium-binding domain-containing protein 4A isoform X1

    6. XM_017017591.2 → XP_016873080.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

      UniProtKB/TrEMBL
      Q6ZRW4

    7. XM_017017587.2 → XP_016873076.1  EF-hand calcium-binding domain-containing protein 4A isoform X1

    8. XM_017017594.2 → XP_016873083.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

      UniProtKB/TrEMBL
      Q6ZRW4

    9. XM_047426818.1 → XP_047282774.1  EF-hand calcium-binding domain-containing protein 4A isoform X12

    10. XM_017017586.2 → XP_016873075.1  EF-hand calcium-binding domain-containing protein 4A isoform X1

    11. XM_017017593.2 → XP_016873082.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

      UniProtKB/TrEMBL
      Q6ZRW4

    12. XM_047426809.1 → XP_047282765.1  EF-hand calcium-binding domain-containing protein 4A isoform X8

    13. XM_047426812.1 → XP_047282768.1  EF-hand calcium-binding domain-containing protein 4A isoform X10

    14. XM_017017584.2 → XP_016873073.1  EF-hand calcium-binding domain-containing protein 4A isoform X1

    15. XM_047426807.1 → XP_047282763.1  EF-hand calcium-binding domain-containing protein 4A isoform X6

    16. XM_047426808.1 → XP_047282764.1  EF-hand calcium-binding domain-containing protein 4A isoform X8

    17. XM_047426810.1 → XP_047282766.1  EF-hand calcium-binding domain-containing protein 4A isoform X10

    18. XM_047426804.1 → XP_047282760.1  EF-hand calcium-binding domain-containing protein 4A isoform X4

      UniProtKB/TrEMBL
      Q6ZRW4

    19. XM_047426816.1 → XP_047282772.1  EF-hand calcium-binding domain-containing protein 4A isoform X12

    20. XM_047426820.1 → XP_047282776.1  EF-hand calcium-binding domain-containing protein 4A isoform X14

    21. XM_047426823.1 → XP_047282779.1  EF-hand calcium-binding domain-containing protein 4A isoform X16

      UniProtKB/Swiss-Prot
      D5LPR2, Q8N4Y2, Q8NBW8

    22. XM_047426826.1 → XP_047282782.1  EF-hand calcium-binding domain-containing protein 4A isoform X17

    23. XM_017017585.2 → XP_016873074.1  EF-hand calcium-binding domain-containing protein 4A isoform X1

    24. XM_047426811.1 → XP_047282767.1  EF-hand calcium-binding domain-containing protein 4A isoform X10

    25. XM_017017592.2 → XP_016873081.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

      UniProtKB/TrEMBL
      Q6ZRW4

    26. XM_047426815.1 → XP_047282771.1  EF-hand calcium-binding domain-containing protein 4A isoform X11

    27. XM_047426805.1 → XP_047282761.1  EF-hand calcium-binding domain-containing protein 4A isoform X4

      UniProtKB/TrEMBL
      Q6ZRW4

    28. XM_047426817.1 → XP_047282773.1  EF-hand calcium-binding domain-containing protein 4A isoform X12

    29. XM_047426821.1 → XP_047282777.1  EF-hand calcium-binding domain-containing protein 4A isoform X14

    30. XM_047426824.1 → XP_047282780.1  EF-hand calcium-binding domain-containing protein 4A isoform X16

      UniProtKB/Swiss-Prot
      D5LPR2, Q8N4Y2, Q8NBW8

    31. XM_017017588.2 → XP_016873077.1  EF-hand calcium-binding domain-containing protein 4A isoform X1

    32. XM_017017595.2 → XP_016873084.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

      UniProtKB/TrEMBL
      Q6ZRW4

    33. XM_047426825.1 → XP_047282781.1  EF-hand calcium-binding domain-containing protein 4A isoform X16

      UniProtKB/Swiss-Prot
      D5LPR2, Q8N4Y2, Q8NBW8

    34. XM_017017599.2 → XP_016873088.1  EF-hand calcium-binding domain-containing protein 4A isoform X17

      UniProtKB/Swiss-Prot
      Q8N4Y2
      Related
      ENSP00000432334.1, ENST00000528542.6
      Conserved Domains (2) summary
      pfam13499
      Location:34 → 89
      EF-hand_7; EF-hand domain pair
      cl08302
      Location:33 → 89
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    35. XM_017017597.2 → XP_016873086.1  EF-hand calcium-binding domain-containing protein 4A isoform X5

    36. XM_047426813.1 → XP_047282769.1  EF-hand calcium-binding domain-containing protein 4A isoform X18

    37. XM_011520011.2 → XP_011518313.1  EF-hand calcium-binding domain-containing protein 4A isoform X7

      See identical proteins and their annotated locations for XP_011518313.1

      Conserved Domains (1) summary
      TIGR04376
      Location:289 → 388
      TIGR04376; TIGR04376 family protein

    38. XM_011520019.2 → XP_011518321.1  EF-hand calcium-binding domain-containing protein 4A isoform X9

      Conserved Domains (1) summary
      TIGR04376
      Location:289 → 388
      TIGR04376; TIGR04376 family protein

    39. XM_017017598.2 → XP_016873087.1  EF-hand calcium-binding domain-containing protein 4A isoform X19

    40. XM_017017589.2 → XP_016873078.1  EF-hand calcium-binding domain-containing protein 4A isoform X2

    41. XM_047426819.1 → XP_047282775.1  EF-hand calcium-binding domain-containing protein 4A isoform X13

    42. XM_047426822.1 → XP_047282778.1  EF-hand calcium-binding domain-containing protein 4A isoform X15

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      877475..883426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368491.1 → XP_054224466.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

      UniProtKB/TrEMBL
      Q6ZRW4

    2. XM_054368487.1 → XP_054224462.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

      UniProtKB/TrEMBL
      Q6ZRW4

    3. XM_054368488.1 → XP_054224463.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

      UniProtKB/TrEMBL
      Q6ZRW4

    4. XM_054368497.1 → XP_054224472.1  EF-hand calcium-binding domain-containing protein 4A isoform X6

    5. XM_054368511.1 → XP_054224486.1  EF-hand calcium-binding domain-containing protein 4A isoform X11

    6. XM_054368517.1 → XP_054224492.1  EF-hand calcium-binding domain-containing protein 4A isoform X12

    7. XM_054368525.1 → XP_054224500.1  EF-hand calcium-binding domain-containing protein 4A isoform X16

      UniProtKB/Swiss-Prot
      D5LPR2, Q8N4Y2, Q8NBW8

    8. XM_054368527.1 → XP_054224502.1  EF-hand calcium-binding domain-containing protein 4A isoform X16

      UniProtKB/Swiss-Prot
      D5LPR2, Q8N4Y2, Q8NBW8

    9. XM_054368492.1 → XP_054224467.1  EF-hand calcium-binding domain-containing protein 4A isoform X4

      UniProtKB/TrEMBL
      Q6ZRW4

    10. XM_054368486.1 → XP_054224461.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

      UniProtKB/TrEMBL
      Q6ZRW4

    11. XM_054368521.1 → XP_054224496.1  EF-hand calcium-binding domain-containing protein 4A isoform X14

    12. XM_054368526.1 → XP_054224501.1  EF-hand calcium-binding domain-containing protein 4A isoform X16

      UniProtKB/Swiss-Prot
      D5LPR2, Q8N4Y2, Q8NBW8

    13. XM_054368528.1 → XP_054224503.1  EF-hand calcium-binding domain-containing protein 4A isoform X16

      UniProtKB/Swiss-Prot
      D5LPR2, Q8N4Y2, Q8NBW8

    14. XM_054368509.1 → XP_054224484.1  EF-hand calcium-binding domain-containing protein 4A isoform X10

    15. XM_054368512.1 → XP_054224487.1  EF-hand calcium-binding domain-containing protein 4A isoform X11

    16. XM_054368494.1 → XP_054224469.1  EF-hand calcium-binding domain-containing protein 4A isoform X4

      UniProtKB/TrEMBL
      Q6ZRW4

    17. XM_054368515.1 → XP_054224490.1  EF-hand calcium-binding domain-containing protein 4A isoform X12

    18. XM_054368504.1 → XP_054224479.1  EF-hand calcium-binding domain-containing protein 4A isoform X8

    19. XM_054368516.1 → XP_054224491.1  EF-hand calcium-binding domain-containing protein 4A isoform X12

    20. XM_054368524.1 → XP_054224499.1  EF-hand calcium-binding domain-containing protein 4A isoform X16

      UniProtKB/Swiss-Prot
      D5LPR2, Q8N4Y2, Q8NBW8

    21. XM_054368510.1 → XP_054224485.1  EF-hand calcium-binding domain-containing protein 4A isoform X10

    22. XM_054368502.1 → XP_054224477.1  EF-hand calcium-binding domain-containing protein 4A isoform X8

    23. XM_054368513.1 → XP_054224488.1  EF-hand calcium-binding domain-containing protein 4A isoform X12

    24. XM_054368507.1 → XP_054224482.1  EF-hand calcium-binding domain-containing protein 4A isoform X10

    25. XM_054368519.1 → XP_054224494.1  EF-hand calcium-binding domain-containing protein 4A isoform X14

    26. XM_054368498.1 → XP_054224473.1  EF-hand calcium-binding domain-containing protein 4A isoform X6

    27. XM_054368514.1 → XP_054224489.1  EF-hand calcium-binding domain-containing protein 4A isoform X12

    28. XM_054368520.1 → XP_054224495.1  EF-hand calcium-binding domain-containing protein 4A isoform X14

    29. XM_054368522.1 → XP_054224497.1  EF-hand calcium-binding domain-containing protein 4A isoform X14

    30. XM_054368530.1 → XP_054224505.1  EF-hand calcium-binding domain-containing protein 4A isoform X17

    31. XM_054368493.1 → XP_054224468.1  EF-hand calcium-binding domain-containing protein 4A isoform X4

      UniProtKB/TrEMBL
      Q6ZRW4

    32. XM_054368485.1 → XP_054224460.1  EF-hand calcium-binding domain-containing protein 4A isoform X2

    33. XM_054368489.1 → XP_054224464.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

      UniProtKB/TrEMBL
      Q6ZRW4

    34. XM_054368503.1 → XP_054224478.1  EF-hand calcium-binding domain-containing protein 4A isoform X8

    35. XM_054368490.1 → XP_054224465.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

      UniProtKB/TrEMBL
      Q6ZRW4

    36. XM_054368499.1 → XP_054224474.1  EF-hand calcium-binding domain-containing protein 4A isoform X6

    37. XM_054368495.1 → XP_054224470.1  EF-hand calcium-binding domain-containing protein 4A isoform X4

      UniProtKB/TrEMBL
      Q6ZRW4

    38. XM_054368508.1 → XP_054224483.1  EF-hand calcium-binding domain-containing protein 4A isoform X10

    39. XM_054368529.1 → XP_054224504.1  EF-hand calcium-binding domain-containing protein 4A isoform X20

    40. XM_054368531.1 → XP_054224506.1  EF-hand calcium-binding domain-containing protein 4A isoform X17

    41. XM_054368532.1 → XP_054224507.1  EF-hand calcium-binding domain-containing protein 4A isoform X17

    42. XM_054368496.1 → XP_054224471.1  EF-hand calcium-binding domain-containing protein 4A isoform X5

    43. XM_054368500.1 → XP_054224475.1  EF-hand calcium-binding domain-containing protein 4A isoform X7

    44. XM_054368505.1 → XP_054224480.1  EF-hand calcium-binding domain-containing protein 4A isoform X9

    45. XM_054368501.1 → XP_054224476.1  EF-hand calcium-binding domain-containing protein 4A isoform X8

    46. XM_054368506.1 → XP_054224481.1  EF-hand calcium-binding domain-containing protein 4A isoform X10

    47. XM_054368518.1 → XP_054224493.1  EF-hand calcium-binding domain-containing protein 4A isoform X13

    48. XM_054368523.1 → XP_054224498.1  EF-hand calcium-binding domain-containing protein 4A isoform X15

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N4Y2.3 GenPept UniProtKB/Swiss-Prot:Q8N4Y2

    Gene LinkOut

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