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    HEPACAM2 HEPACAM family member 2 [ Homo sapiens (human) ]

    Gene ID: 253012, updated on 10-Dec-2024

    Summary

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    Official Symbol
    HEPACAM2provided by HGNC
    Official Full Name
    HEPACAM family member 2provided by HGNC
    Primary source
    HGNC:HGNC:27364
    See related
    Ensembl:ENSG00000188175 MIM:614133; AllianceGenome:HGNC:27364
    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
    MIKI
    Summary
    This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes its translocation to centrosomes, which may stimulate centrosome maturation. A chromosomal deletion including this gene may be associated with myeloid leukemia and myelodysplastic syndrome in human patients. [provided by RefSeq, Oct 2016]
    Expression
    Biased expression in colon (RPKM 38.5), small intestine (RPKM 21.6) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HEPACAM2 in Genome Data Viewer
    Location:
    7q21.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (93188534..93232285, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (94430593..94474339, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92817847..92861511, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:92737283-92738482 Neighboring gene sterile alpha motif domain containing 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26280 Neighboring gene sterile alpha motif domain containing 9 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26281 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92890341-92890842 Neighboring gene VPS50 subunit of EARP/GARPII complex Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:93025621-93026134 Neighboring gene calcitonin receptor Neighboring gene microRNA 653

    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. Effects of smoking cessation on gene expression in human leukocytes of chronic smoker. Kim SJ, et al. Psychiatry Investig, 2014 Jul. PMID 25110502, Free PMC Article
    2. Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion. Saugier-Veber P, et al. Am J Med Genet A, 2010 May. PMID 20425829
    3. Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome. Asou H, et al. Biochem Biophys Res Commun, 2009 May 29. PMID 19358830
    4. Poly-ADP ribosylation of Miki by tankyrase-1 promotes centrosome maturation. Ozaki Y, et al. Mol Cell, 2012 Sep 14. PMID 22864114
    5. Identification of candidate genes for human pituitary development by EST analysis. Ma Y, et al. BMC Genomics, 2009 Mar 15. PMID 19284880, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The data suggest that PARsylation of Miki by tankyrase-1 is a key initial event promoting prometaphase.
      Title: Poly-ADP ribosylation of Miki by tankyrase-1 promotes centrosome maturation.
    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)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in centrosome cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in centrosome cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in midbody IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    HEPACAM family member 2
    Names
    mitotic kinetics regulator

    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.

    Genomic

    1. NG_051957.1 RefSeqGene

      Range
      10730..48665
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039372.4 → NP_001034461.1  HEPACAM family member 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001034461.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC000119, AK096002
      Consensus CDS
      CCDS43616.1
      UniProtKB/Swiss-Prot
      A8MVW5, B3KTT4, B4DPJ1, B9EG93, E9PDV5, Q6UXI0
      Related
      ENSP00000377980.2, ENST00000394468.7
      Conserved Domains (3) summary
      smart00408
      Location:167 → 226
      IGc2; Immunoglobulin C-2 Type
      pfam07679
      Location:149 → 232
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:105 → 174
      Ig; Immunoglobulin domain

    2. NM_001288804.3 → NP_001275733.1  HEPACAM family member 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (3) is longer and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      AC000119, AK298361, BC139906
      Consensus CDS
      CCDS75632.1
      UniProtKB/Swiss-Prot
      A8MVW5
      Related
      ENSP00000390204.2, ENST00000453812.2
      Conserved Domains (3) summary
      smart00408
      Location:190 → 249
      IGc2; Immunoglobulin C-2 Type
      pfam07679
      Location:172 → 255
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:128 → 197
      Ig; Immunoglobulin domain

    3. NM_001288810.3 → NP_001275739.1  HEPACAM family member 2 isoform 4 precursor

      See identical proteins and their annotated locations for NP_001275739.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, contains a novel 5' coding region, initiates translation at an alternate start site and lacks an exon in the 3' coding region compared to variant 1. The encoded isoform (4) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC000119, AY358345, BC046365, BC139906
      Consensus CDS
      CCDS75631.1
      UniProtKB/TrEMBL
      C9JN07
      Related
      ENSP00000389592.1, ENST00000440868.5
      Conserved Domains (3) summary
      smart00408
      Location:155 → 214
      IGc2; Immunoglobulin C-2 Type
      pfam07679
      Location:137 → 220
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:93 → 162
      Ig; Immunoglobulin domain

    4. NM_001346642.2 → NP_001333571.1  HEPACAM family member 2 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream translation start site compared to variant 1. The encoded isoform (5) contains a shorter N-terminus and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      AC000119, AC002453

    5. NM_198151.4 → NP_937794.1  HEPACAM family member 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_937794.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, contains a novel 5' coding region, and initiates translation at an alternate start site compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to variant 1.
      Source sequence(s)
      AC000119, AY358345, BC139906, H75859
      Consensus CDS
      CCDS5629.1
      UniProtKB/Swiss-Prot
      A8MVW5
      Related
      ENSP00000340532.4, ENST00000341723.8
      Conserved Domains (2) summary
      pfam13927
      Location:136 → 211
      Ig_3; Immunoglobulin domain
      cl11960
      Location:25 → 130
      Ig; Immunoglobulin domain

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      93188534..93232285 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516001.3 → XP_011514303.1  HEPACAM family member 2 isoform X1

      See identical proteins and their annotated locations for XP_011514303.1

      Conserved Domains (3) summary
      smart00408
      Location:92 → 151
      IGc2; Immunoglobulin C-2 Type
      pfam07679
      Location:74 → 157
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:30 → 99
      Ig; Immunoglobulin domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      94430593..94474339 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357738.1 → XP_054213713.1  HEPACAM family member 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MVW5.1 GenPept UniProtKB/Swiss-Prot:A8MVW5

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