MB21D2 Mab-21 domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MB21D2provided by HGNC
Official Full Name: Mab-21 domain containing 2provided by HGNC
Primary source: HGNC:HGNC:30438
See related: Ensembl:ENSG00000180611 AllianceGenome:HGNC:30438
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: D2A; C3orf59; hMB21D2
Summary: Enables cadherin binding activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in placenta (RPKM 8.0), testis (RPKM 5.3) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q29

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (192796815..192917856, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (195492752..195613821, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (192514604..192635645, complement)

Chromosome 3 - NC_000003.12 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?

Overexpression of wild type or a Q311E mutant MB21D2 promotes a pro-oncogenic phenotype in HNSCC.
Title: Overexpression of wild type or a Q311E mutant MB21D2 promotes a pro-oncogenic phenotype in HNSCC.
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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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-77664 (e-PCR)
- UniSTS:42792

G66834 (e-PCR)
- UniSTS:166698

RH121302 (e-PCR)
- UniSTS:138568

RH16535 (e-PCR)
- UniSTS:28760

SHGC-112244 (e-PCR)
- UniSTS:168553

SHGC-33221 (e-PCR)
- UniSTS:30317

SHGC-57353 (e-PCR)
- UniSTS:638

D3S3297E (e-PCR)
- UniSTS:153737

D3S2867E (e-PCR)
- UniSTS:66248

G20801 (e-PCR)
- UniSTS:56524

A006H10 (e-PCR)
- UniSTS:56525

SHGC-82467 (e-PCR)
- UniSTS:104434

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	HDA more info	PubMed
enables nucleotidyltransferase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: nucleotidyltransferase MB21D2

Names: DANGER family member 2A; mab-21 domain-containing protein 2; protein MB21D2

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.