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    LOC110384692 complement C4A (Rodgers blood group)-like [ Homo sapiens (human) ]

    Gene ID: 110384692, updated on 17-Sep-2024

    Summary

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    Gene symbol
    LOC110384692
    Gene description
    complement C4A (Rodgers blood group)-like
    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
    Annotation information
    Annotation category: only annotated on alternate loci in reference assembly
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    Genomic context

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    See LOC110384692 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 (ALT_REF_LOCI_5) NT_167247.2 (3356831..3377455)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 Unlocalized Scaffold (ALT_REF_LOCI_5) NT_167247.1 (3362416..3383040)

    NT_167247.2Genomic Context describing neighboring genes Neighboring gene tenascin XA (pseudogene) Neighboring gene serine/threonine kinase 19B (pseudogene) Neighboring gene CYP21A2 5' regulatory region Neighboring gene CYP21A2 recombination region Neighboring gene cytochrome P450 family 21 subfamily A member 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:32013699-32013950 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:32014364-32015563 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:32015753-32016386 Neighboring gene tenascin XB Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:32038327-32039327 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:32040222-32041078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:32041114-32041614 Neighboring gene RNA, 5S ribosomal pseudogene 206

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Genetic, structural and functional diversities of human complement components C4A and C4B and their mouse homologues, Slp and C4. Blanchong CA, et al. Int Immunopharmacol, 2001 Mar. PMID 11367523
    2. Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene. Bánlaki Z, et al. Genome Biol Evol, 2013. PMID 23241443, Free PMC Article
    3. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. Yang Y, et al. Am J Hum Genet, 2007 Jun. PMID 17503323, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    Genotypes

    General gene information

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    Clone Names

    • MGC164734, MGC178090, MGC181952, MGC198501

    General protein information

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    Preferred Names
    complement C4A (Rodgers blood group)-like

    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_001352000.1 → NP_001338929.1  complement C4A (Rodgers blood group)-like preproprotein

      Status: VALIDATED

      Source sequence(s)
      CR936924
      UniProtKB/TrEMBL
      A0A0G2JPR0
      Conserved Domains (7) summary
      cd00017
      Location:686 → 750
      ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...
      cd02896
      Location:996 → 1315
      complement_C3_C4_C5; Proteins similar to C3, C4 and C5 of vertebrate complement. The vertebrate complement system, comprised of a large number of distinct plasma proteins, is an effector of both the acquired and innate immune systems. The point of convergence of the ...
      cd03584
      Location:1588 → 1742
      NTR_complement_C4; NTR/C345C domain, complement C4 subfamily; The NTR domain found in complement C4 is also known as the C345C domain because it occurs at the C-terminus of complement C3, C4 and C5. Complement C4 is a key player in the activation of the component classical ...
      pfam00207
      Location:782 → 869
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:140 → 233
      A2M_N; MG2 domain
      pfam07677
      Location:1481 → 1570
      A2M_recep; A-macroglobulin receptor
      pfam07703
      Location:473 → 610
      A2M_N_2; Alpha-2-macroglobulin family N-terminal 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 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      3356831..3377455
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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