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    ANKRD36B ankyrin repeat domain 36B [ Homo sapiens (human) ]

    Gene ID: 57730, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ANKRD36Bprovided by HGNC
    Official Full Name
    ankyrin repeat domain 36Bprovided by HGNC
    Primary source
    HGNC:HGNC:29333
    See related
    Ensembl:ENSG00000196912 AllianceGenome:HGNC:29333
    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
    KIAA1641
    Summary
    Enables identical protein binding activity. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 3.8), testis (RPKM 3.0) and 24 other tissues See more
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    Genomic context

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    See ANKRD36B in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (97492663..97589877, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (97950887..98048093, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (98109127..98206340, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene immunoglobulin kappa variable 1/OR2-11 (pseudogene) Neighboring gene uncharacterized LOC107985920 Neighboring gene atherosclerotic plaque pathogenesis associated transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:98206492-98206992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98222123-98222979 Neighboring gene uncharacterized LOC105373499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:98233139-98233656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98235127-98236008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:98238522-98239022 Neighboring gene MPRA-validated peak3795 silencer Neighboring gene UBTF like 6 (pseudogene)

    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. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Aug 31. PMID 10997877
    2. Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107410
    3. A proteome-scale map of the SARS-CoV-2-human contactome. Kim DK, et al. Nat Biotechnol, 2023 Jan. PMID 36217029, Free PMC Article
    4. Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. Johnson-Kerner BL, et al. PLoS One, 2015. PMID 26460568, Free PMC Article
    5. TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile. Dendoncker K, et al. Proc Natl Acad Sci U S A, 2019 Jun 25. PMID 31182584, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Clone Names

    • FLJ21281, FLJ90089, KIAA1641, MGC149864, MGC149865, MGC167812

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 36B
    Names
    CLL-associated antigen KW-1
    melanoma-associated antigen

    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_001353337.2 → NP_001340266.1  ankyrin repeat domain-containing protein 36B isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC017099
      UniProtKB/TrEMBL
      A0A087WX87
      Conserved Domains (2) summary
      cd00204
      Location:24 → 139
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:54 → 83
      ANK; ANK repeat [structural motif]

    2. NM_001393939.1 → NP_001380868.1  ankyrin repeat domain-containing protein 36B isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC017099
      Consensus CDS
      CCDS74543.1
      UniProtKB/Swiss-Prot
      Q08AK5, Q6IPR0, Q6PI49, Q8IZM7, Q8N2N9, Q8TDH6, Q96N30, Q9H759
      Related
      ENSP00000477778.1, ENST00000359901.9
      Conserved Domains (5) summary
      COG0666
      Location:17 → 209
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:54 → 83
      ANK; ANK repeat [structural motif]
      pfam15921
      Location:712 → 1342
      CCDC158; Coiled-coil domain-containing protein 158
      pfam12796
      Location:24 → 116
      Ank_2; Ankyrin repeats (3 copies)
      pfam14915
      Location:949 → 1240
      CCDC144C; CCDC144C protein coiled-coil region

    3. NM_025190.4 → NP_079466.3  ankyrin repeat domain-containing protein 36B isoform 1

      See identical proteins and their annotated locations for NP_079466.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC017099
      Consensus CDS
      CCDS74543.1
      UniProtKB/Swiss-Prot
      Q08AK5, Q6IPR0, Q6PI49, Q8IZM7, Q8N2N9, Q8TDH6, Q96N30, Q9H759
      Related
      ENSP00000481149.1, ENST00000258459.12
      Conserved Domains (5) summary
      COG0666
      Location:17 → 209
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:54 → 83
      ANK; ANK repeat [structural motif]
      pfam15921
      Location:712 → 1342
      CCDC158; Coiled-coil domain-containing protein 158
      pfam12796
      Location:24 → 116
      Ank_2; Ankyrin repeats (3 copies)
      pfam14915
      Location:949 → 1240
      CCDC144C; CCDC144C protein coiled-coil region

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      97492663..97589877 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445328.1 → XP_047301284.1  ankyrin repeat domain-containing protein 36B isoform X7

    2. XM_047445323.1 → XP_047301279.1  ankyrin repeat domain-containing protein 36B isoform X4

    3. XM_047445324.1 → XP_047301280.1  ankyrin repeat domain-containing protein 36B isoform X5

    4. XM_047445330.1 → XP_047301286.1  ankyrin repeat domain-containing protein 36B isoform X9

    5. XM_047445329.1 → XP_047301285.1  ankyrin repeat domain-containing protein 36B isoform X8

    6. XM_047445327.1 → XP_047301283.1  ankyrin repeat domain-containing protein 36B isoform X6

    7. XM_047445321.1 → XP_047301277.1  ankyrin repeat domain-containing protein 36B isoform X3

    8. XM_017004578.3 → XP_016860067.1  ankyrin repeat domain-containing protein 36B isoform X2

      Conserved Domains (3) summary
      sd00045
      Location:54 → 83
      ANK; ANK repeat [structural motif]
      pfam15921
      Location:712 → 1341
      CCDC158; Coiled-coil domain-containing protein 158
      cl39094
      Location:11 → 211
      Ank_2; Ankyrin repeats (3 copies)

    9. XM_005263995.6 → XP_005264052.1  ankyrin repeat domain-containing protein 36B isoform X1

      See identical proteins and their annotated locations for XP_005264052.1

      UniProtKB/Swiss-Prot
      Q08AK5, Q6IPR0, Q6PI49, Q8IZM7, Q8N2N9, Q8TDH6, Q96N30, Q9H759
      Conserved Domains (5) summary
      COG0666
      Location:17 → 209
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      sd00045
      Location:54 → 83
      ANK; ANK repeat [structural motif]
      pfam15921
      Location:712 → 1342
      CCDC158; Coiled-coil domain-containing protein 158
      pfam12796
      Location:24 → 116
      Ank_2; Ankyrin repeats (3 copies)
      pfam14915
      Location:949 → 1240
      CCDC144C; CCDC144C protein coiled-coil region

    10. XM_047445336.1 → XP_047301292.1  ankyrin repeat domain-containing protein 36B isoform X13

    11. XM_047445331.1 → XP_047301287.1  ankyrin repeat domain-containing protein 36B isoform X10

    12. XM_047445335.1 → XP_047301291.1  ankyrin repeat domain-containing protein 36B isoform X12

    13. XM_047445334.1 → XP_047301290.1  ankyrin repeat domain-containing protein 36B isoform X11

    14. XM_047445337.1 → XP_047301293.1  ankyrin repeat domain-containing protein 36B isoform X14

    15. XM_047445342.1 → XP_047301298.1  ankyrin repeat domain-containing protein 36B isoform X22

    16. XM_047445338.1 → XP_047301294.1  ankyrin repeat domain-containing protein 36B isoform X15

    17. XM_047445341.1 → XP_047301297.1  ankyrin repeat domain-containing protein 36B isoform X21

    18. XM_047445339.1 → XP_047301295.1  ankyrin repeat domain-containing protein 36B isoform X19

    19. XM_047445340.1 → XP_047301296.1  ankyrin repeat domain-containing protein 36B isoform X20

    20. XM_011511558.3 → XP_011509860.1  ankyrin repeat domain-containing protein 36B isoform X18

      Conserved Domains (4) summary
      cd00204
      Location:47 → 172
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:24 → 116
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:171 → 225
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:54 → 83
      ANK; ANK repeat [structural motif]

    21. XM_011511556.3 → XP_011509858.1  ankyrin repeat domain-containing protein 36B isoform X16

      See identical proteins and their annotated locations for XP_011509858.1

      Conserved Domains (4) summary
      cd00204
      Location:47 → 172
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:24 → 116
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:171 → 225
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:54 → 83
      ANK; ANK repeat [structural motif]

    22. XM_011511555.3 → XP_011509857.1  ankyrin repeat domain-containing protein 36B isoform X16

      See identical proteins and their annotated locations for XP_011509857.1

      Conserved Domains (4) summary
      cd00204
      Location:47 → 172
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:24 → 116
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:171 → 225
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:54 → 83
      ANK; ANK repeat [structural motif]

    23. XM_011511557.4 → XP_011509859.1  ankyrin repeat domain-containing protein 36B isoform X17

      Conserved Domains (4) summary
      cd00204
      Location:47 → 172
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:24 → 116
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:171 → 225
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:54 → 83
      ANK; ANK repeat [structural motif]

    RNA

    1. XR_007078917.1 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791765.1 Reference GRCh38.p14 PATCHES

      Range
      418694..515908 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332972.1 → XP_054188947.1  ankyrin repeat domain-containing protein 36B isoform X7

    2. XM_054332969.1 → XP_054188944.1  ankyrin repeat domain-containing protein 36B isoform X4

    3. XM_054332970.1 → XP_054188945.1  ankyrin repeat domain-containing protein 36B isoform X5

    4. XM_054332974.1 → XP_054188949.1  ankyrin repeat domain-containing protein 36B isoform X9

    5. XM_054332973.1 → XP_054188948.1  ankyrin repeat domain-containing protein 36B isoform X8

    6. XM_054332971.1 → XP_054188946.1  ankyrin repeat domain-containing protein 36B isoform X6

    7. XM_054332968.1 → XP_054188943.1  ankyrin repeat domain-containing protein 36B isoform X3

    8. XM_054332967.1 → XP_054188942.1  ankyrin repeat domain-containing protein 36B isoform X2

    9. XM_054332966.1 → XP_054188941.1  ankyrin repeat domain-containing protein 36B isoform X1

      UniProtKB/Swiss-Prot
      Q08AK5, Q6IPR0, Q6PI49, Q8IZM7, Q8N2N9, Q8TDH6, Q96N30, Q9H759

    10. XM_054332978.1 → XP_054188953.1  ankyrin repeat domain-containing protein 36B isoform X13

    11. XM_054332975.1 → XP_054188950.1  ankyrin repeat domain-containing protein 36B isoform X10

    12. XM_054332977.1 → XP_054188952.1  ankyrin repeat domain-containing protein 36B isoform X12

    13. XM_054332976.1 → XP_054188951.1  ankyrin repeat domain-containing protein 36B isoform X11

    14. XM_054332979.1 → XP_054188954.1  ankyrin repeat domain-containing protein 36B isoform X14

    15. XM_054332988.1 → XP_054188963.1  ankyrin repeat domain-containing protein 36B isoform X22

    16. XM_054332980.1 → XP_054188955.1  ankyrin repeat domain-containing protein 36B isoform X15

    17. XM_054332987.1 → XP_054188962.1  ankyrin repeat domain-containing protein 36B isoform X21

    18. XM_054332985.1 → XP_054188960.1  ankyrin repeat domain-containing protein 36B isoform X19

    19. XM_054332986.1 → XP_054188961.1  ankyrin repeat domain-containing protein 36B isoform X20

    20. XM_054332984.1 → XP_054188959.1  ankyrin repeat domain-containing protein 36B isoform X18

    21. XM_054332982.1 → XP_054188957.1  ankyrin repeat domain-containing protein 36B isoform X16

    22. XM_054332981.1 → XP_054188956.1  ankyrin repeat domain-containing protein 36B isoform X16

    23. XM_054332983.1 → XP_054188958.1  ankyrin repeat domain-containing protein 36B isoform X17

    RNA

    1. XR_008485810.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      97950887..98048093 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343225.1 → XP_054199200.1  ankyrin repeat domain-containing protein 36B isoform X1

      UniProtKB/Swiss-Prot
      Q08AK5, Q6IPR0, Q6PI49, Q8IZM7, Q8N2N9, Q8TDH6, Q96N30, Q9H759

    2. XM_054343226.1 → XP_054199201.1  ankyrin repeat domain-containing protein 36B isoform X3

    3. XM_054343227.1 → XP_054199202.1  ankyrin repeat domain-containing protein 36B isoform X23

    4. XM_054343228.1 → XP_054199203.1  ankyrin repeat domain-containing protein 36B isoform X24

    5. XM_054343235.1 → XP_054199210.1  ankyrin repeat domain-containing protein 36B isoform X19

    6. XM_054343236.1 → XP_054199211.1  ankyrin repeat domain-containing protein 36B isoform X20

    7. XM_054343232.1 → XP_054199207.1  ankyrin repeat domain-containing protein 36B isoform X18

    8. XM_054343230.1 → XP_054199205.1  ankyrin repeat domain-containing protein 36B isoform X16

    9. XM_054343229.1 → XP_054199204.1  ankyrin repeat domain-containing protein 36B isoform X16

    10. XM_054343234.1 → XP_054199209.1  ankyrin repeat domain-containing protein 36B isoform X26

    11. XM_054343233.1 → XP_054199208.1  ankyrin repeat domain-containing protein 36B isoform X25

    12. XM_054343231.1 → XP_054199206.1  ankyrin repeat domain-containing protein 36B isoform X17

    13. XM_054343237.1 → XP_054199212.1  ankyrin repeat domain-containing protein 36B isoform X27

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020970.1: Suppressed sequence

      Description
      NM_020970.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N2N9.4 GenPept UniProtKB/Swiss-Prot:Q8N2N9

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