U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 100191040, updated on 8-Mar-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See C2CD4D in Genome Data Viewer
Location:
1q21.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151837818..151840557, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150961316..150964055, complement)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC189742

General protein information

Go to the top of the page Help
Preferred Names
C2 calcium-dependent domain-containing protein 4D
Names
family with sequence similarity 148, member D

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_2023_10

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous