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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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