DOC2B double C2 domain beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: DOC2Bprovided by HGNC
Official Full Name: double C2 domain betaprovided by HGNC
Primary source: HGNC:HGNC:2986
See related: Ensembl:ENSG00000272636 MIM:604568; AllianceGenome:HGNC:2986
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: DOC2BL
Summary: There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2B is expressed ubiquitously and is suggested to be involved in Ca(2+)-dependent intracellular vesicle trafficking in various types of cells. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 3.2), bone marrow (RPKM 2.6) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (142789..181650, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (48059..84879, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (67..31441, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Double C-2 like domain beta (DOC2B) induces calcium dependent oxidative stress to promote lipotoxicity and mitochondrial dysfunction for its tumor suppressive function.
Title: Double C-2 like domain beta (DOC2B) induces calcium dependent oxidative stress to promote lipotoxicity and mitochondrial dysfunction for its tumor suppressive function.
Reduction of DOC2B is an early feature of T1 diabetes (T1D), and DOC2B abundance may serve as a valuable in vivo indicator of beta-cell mass and an early biomarker of T1D.
Title: Exocytosis Protein DOC2B as a Biomarker of Type 1 Diabetes.
Here the authors report that analogous ring-like oligomers assemble from the C2AB domains of other Syt isoforms (Syt2, Syt7, Syt9) as well as related C2 domain containing protein, Doc2B and extended Synaptotagmins (E-Syts).
Title: Ring-like oligomers of Synaptotagmins and related C2 domain proteins.
promoter hypermethylation and silencing of the DOC2B gene is an early and frequent event during cervical carcinogenesis and whose reduced expression due to DNA promoter methylation may lead to selective cervical tumor growth
Title: DNA promoter methylation-dependent transcription of the double C2-like domain β (DOC2B) gene regulates tumor growth in human cervical cancer.
Study analyzed Doc2alpha and Doc2beta and found that Doc2 responds to changes in [Ca2+], with markedly slower kinetics as compared to the cytosolic domain of syt I (syt), and operates on a timescale consistent with asynchronous neurotransmitter release.
Title: Doc2 is a Ca2+ sensor required for asynchronous neurotransmitter release.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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Phenotypes

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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

D17S2197 (e-PCR)
- UniSTS:38475

NoName (e-PCR)
- UniSTS:481194

STS-D70830 (e-PCR)
- UniSTS:73663

D17S2199 (e-PCR)
- UniSTS:9667

SHGC-145783 (e-PCR)
- UniSTS:174788

RH80768 (e-PCR)
- UniSTS:87013

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calcium-dependent phospholipid binding	ISS Inferred from Sequence or Structural Similarity more info
enables syntaxin binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in calcium ion-regulated exocytosis of neurotransmitter	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium-dependent activation of synaptic vesicle fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of calcium ion-dependent exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of calcium ion-dependent exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of insulin secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of vesicle fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in spontaneous neurotransmitter secretion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of SNARE complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: double C2-like domain-containing protein beta

Names: doc2-beta; double C2-like domains, beta

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

NG_021143.3 RefSeqGene

Range

5000..43861

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003585.5 → NP_003576.2 double C2-like domain-containing protein beta

See identical proteins and their annotated locations for NP_003576.2

Status: REVIEWED

Source sequence(s)

AC108004, AC240565, AI478508, D70830

Consensus CDS

CCDS73934.1

UniProtKB/Swiss-Prot

A0A087WZX8, Q14184

UniProtKB/TrEMBL

A0A0G2JKH4

Related

ENSP00000482950.1, ENST00000613549.3

Conserved Domains (2) summary

cd04035
Location:127 → 250

C2A_Rabphilin_Doc2; C2 domain first repeat present in Rabphilin and Double C2 domain

cd08384
Location:269 → 401

C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double 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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

142789..181650 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011535363.4 → XP_011533665.1 double C2-like domain-containing protein beta isoform X1

UniProtKB/TrEMBL

A0A0G2JKH4

Conserved Domains (2) summary

cd08384
Location:244 → 376

C2B_Rabphilin_Doc2; C2 domain second repeat present in Rabphilin and Double C2 domain

cl14603
Location:127 → 225

C2; C2 domain
XM_047436938.1 → XP_047292894.1 double C2-like domain-containing protein beta isoform X3
XM_017025227.2 → XP_016880716.1 double C2-like domain-containing protein beta isoform X2

RNA

XR_007065502.1 RNA Sequence
XR_942190.3 RNA Sequence

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NW_003315952.3 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

82789..120582 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054329578.1 → XP_054185553.1 double C2-like domain-containing protein beta isoform X1

UniProtKB/TrEMBL

A0A0G2JKH4
XM_054329580.1 → XP_054185555.1 double C2-like domain-containing protein beta isoform X3
XM_054329579.1 → XP_054185554.1 double C2-like domain-containing protein beta isoform X2

RNA

XR_008485654.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

48059..84879 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054317548.1 → XP_054173523.1 double C2-like domain-containing protein beta isoform X1

UniProtKB/TrEMBL

A0A0G2JKH4
XM_054317550.1 → XP_054173525.1 double C2-like domain-containing protein beta isoform X3
XM_054317549.1 → XP_054173524.1 double C2-like domain-containing protein beta isoform X2