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    C2CD4D C2 calcium dependent domain containing 4D [ Homo sapiens (human) ]

    Gene ID: 100191040, updated on 17-Sep-2024

    Summary

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    Official Symbol
    C2CD4Dprovided by HGNC
    Official Full Name
    C2 calcium dependent domain containing 4Dprovided by HGNC
    Primary source
    HGNC:HGNC:37210
    See related
    Ensembl:ENSG00000225556 AllianceGenome:HGNC:37210
    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
    FAM148D
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See C2CD4D in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151837818..151840557, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150961316..150964055, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151810294..151813033, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151781322-151781822 Neighboring gene leucine rich repeat and Ig domain containing 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151787417-151787917 Neighboring gene RAR related orphan receptor C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151794559-151795060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151795061-151795560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151797330-151798265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151801527-151802212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151802899-151803586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1327 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1725 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1726 Neighboring gene C2CD4D and THEM5 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151820400-151821167 Neighboring gene thioesterase superfamily member 5 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151832751-151833558 Neighboring gene thioesterase superfamily member 4 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:151870195-151871394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151878733-151879272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1330

    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 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. Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors. Feng X, et al. Sci Adv, 2022 May 13. PMID 35559673, Free PMC Article
    2. RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation. Wu SF, et al. Proc Natl Acad Sci U S A, 2020 Jun 23. PMID 32513696, Free PMC Article
    3. 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

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC189742

    General protein information

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    Preferred Names
    C2 calcium-dependent domain-containing protein 4D
    Names
    family with sequence similarity 148, member D

    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_001136003.2 → NP_001129475.1  C2 calcium-dependent domain-containing protein 4D

      See identical proteins and their annotated locations for NP_001129475.1

      Status: VALIDATED

      Source sequence(s)
      AL589765
      Consensus CDS
      CCDS44224.1
      UniProtKB/Swiss-Prot
      B2RXG8, B7Z1M9
      Related
      ENSP00000389554.1, ENST00000454109.1
      Conserved Domains (2) summary
      PRK12323
      Location:14 → 193
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam00168
      Location:273 → 329
      C2; C2 domain

    2. NM_001394591.1 → NP_001381520.1  C2 calcium-dependent domain-containing protein 4D

      Status: VALIDATED

      Source sequence(s)
      AL589765
      Consensus CDS
      CCDS44224.1
      UniProtKB/Swiss-Prot
      B2RXG8, B7Z1M9
      Related
      ENSP00000511551.1, ENST00000694868.1
      Conserved Domains (2) summary
      PRK12323
      Location:14 → 193
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam00168
      Location:273 → 329
      C2; C2 domain

    3. NM_001394592.1 → NP_001381521.1  C2 calcium-dependent domain-containing protein 4D

      Status: VALIDATED

      Source sequence(s)
      AL589765
      Consensus CDS
      CCDS44224.1
      UniProtKB/Swiss-Prot
      B2RXG8, B7Z1M9
      Conserved Domains (2) summary
      PRK12323
      Location:14 → 193
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam00168
      Location:273 → 329
      C2; C2 domain

    4. NM_001394593.1 → NP_001381522.1  C2 calcium-dependent domain-containing protein 4D

      Status: VALIDATED

      Source sequence(s)
      AL589765
      Consensus CDS
      CCDS44224.1
      UniProtKB/Swiss-Prot
      B2RXG8, B7Z1M9
      Related
      ENSP00000511552.1, ENST00000694869.1
      Conserved Domains (2) summary
      PRK12323
      Location:14 → 193
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam00168
      Location:273 → 329
      C2; C2 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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      151837818..151840557 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      150961316..150964055 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B7Z1M9.2 GenPept UniProtKB/Swiss-Prot:B7Z1M9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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