DMRTA2

DMRT like family A2

Basic information

Region (hg38): 1:50417549-50423443

Links

ENSG00000142700 ∙ NCBI:63950 ∙ OMIM:614804 ∙ HGNC:13908 ∙ Uniprot:Q96SC8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• male infertility with azoospermia or oligozoospermia due to single gene mutation (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DMRTA2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DMRTA2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense			35		1	36
nonsense						0
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	0	4

Variants in DMRTA2

This is a list of pathogenic ClinVar variants found in the DMRTA2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-50418744-G-A		not specified	Uncertain significance (Feb 27, 2024)
1-50418744-G-C		not specified	Uncertain significance (Aug 02, 2022)
1-50418753-G-A		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
1-50418754-C-T		not specified	Uncertain significance (Nov 30, 2022)
1-50418773-A-T		not specified	Uncertain significance (Nov 08, 2021)
1-50418778-T-G		not specified	Uncertain significance (Apr 24, 2024)
1-50418799-G-A		not specified	Uncertain significance (Dec 26, 2023)
1-50418801-C-G		not specified	Uncertain significance (Dec 13, 2021)
1-50418862-G-C		not specified	Uncertain significance (Apr 12, 2022)
1-50418863-G-T		not specified	Uncertain significance (Nov 05, 2021)
1-50418864-C-T		not specified	Benign (Sep 17, 2018)
1-50418939-G-A		not specified	Uncertain significance (Dec 15, 2023)
1-50418957-C-G		not specified	Uncertain significance (Nov 09, 2022)
1-50418975-G-A		not specified	Uncertain significance (Sep 26, 2023)
1-50419056-G-A		not specified	Uncertain significance (Dec 14, 2021)
1-50419071-G-C		not specified	Uncertain significance (Dec 06, 2021)
1-50419077-A-T		not specified	Uncertain significance (Nov 14, 2023)
1-50419101-CCGGCGG-C		not specified	Benign (Oct 17, 2018)
1-50419106-G-A		not specified	Benign (May 30, 2018)
1-50419108-C-A		not specified	Uncertain significance (Feb 13, 2023)
1-50419112-G-A		not specified	Benign (Oct 17, 2018)
1-50419150-C-T		not specified	Uncertain significance (Sep 16, 2021)
1-50419154-G-T		not specified	Uncertain significance (Jan 29, 2024)
1-50419162-C-T		not specified	Uncertain significance (Feb 13, 2024)
1-50419174-C-G		not specified	Uncertain significance (Dec 03, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DMRTA2	protein_coding	protein_coding	ENST00000404795	2	5951

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.916	0.0834	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.40	141	196	0.718	0.00000935	3253
Missense in Polyphen		33	36.975	0.89249		455
Synonymous	-1.13	105	91.3	1.15	0.00000473	1275
Loss of Function	2.61	0	7.96	0.00	3.42e-7	131

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in sexual development.

Recessive Scores

• pRec: 0.117

Haploinsufficiency Scores

• ghis: 0.425

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.250

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dmrta2
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cellular phenotype; growth/size/body region phenotype

Zebrafish Information Network

• Gene name: dmrta2
• Affected structure: rostral pars anterior
• Phenotype tag: abnormal
• Phenotype quality: dispersed

Gene ontology

• Biological process: positive regulation of neuroblast proliferation;regulation of transcription by RNA polymerase II;cerebral cortex regionalization;skeletal muscle cell differentiation;neuron fate specification;dopaminergic neuron differentiation
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;protein homodimerization activity;sequence-specific DNA binding;metal ion binding;protein heterodimerization activity