DMXL2 - Dmx like 2 Gene

Also Known as RC3; DEE81; PEPNS; DFNA71; EIEE81

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23312

About DMXL2

Cytogenetic location: 15q21.2 Genomic coordinates (GRCh38): 15:51,447,791-51,622,771 (from NCBI)

This gene has 14 transcripts (splice variants), 213 orthologues, 1 paralogue and is associated with 6 phenotypes. Ubiquitous expression in brain (RPKM 8.0), bone marrow (RPKM 7.9) and 25 other tissues.

Summary

This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

DMXL2 Products (11)

mRNA	Protein	Name
NM_001174116.3	NP_001167587.1	dmX-like protein 2 isoform 1
NM_001174117.3	NP_001167588.1	dmX-like protein 2 isoform 3
NM_001378457.1	NP_001365386.1	dmX-like protein 2 isoform 4
NM_001378458.1	NP_001365387.1	dmX-like protein 2 isoform 5
NM_001378459.1	NP_001365388.1	dmX-like protein 2 isoform 6
NM_001378460.1	NP_001365389.1	dmX-like protein 2 isoform 7
NM_001378461.1	NP_001365390.1	dmX-like protein 2 isoform 8
NM_001378462.1	NP_001365391.1	dmX-like protein 2 isoform 9
NM_001378463.1	NP_001365392.1	dmX-like protein 2 isoform 10
NM_001378464.1	NP_001365393.1	dmX-like protein 2 isoform 11
NM_015263.5	NP_056078.2	dmX-like protein 2 isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables small GTPase binding	IDA IDA: Inferred from direct assay	11809763	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in synaptic vesicle	IDA IDA: Inferred from direct assay	11809763	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DMXL2 Protein Structure

WD40

Rav1p_C

WD40

0
500
1000
1500
2000
2500
3036 a.a.

Protein Preferred Names	Protein Names
dmX-like protein 2	rabconnectin-3

Related Diseases

Diseases	Alias
Developmental And Epileptic Encephalopathy 81	DEE81 Epileptic Encephalopathy, Early Infantile, 81 Eiee81 Developmental And Epileptic Encephalopathy, 81 Early Infantile Epileptic Encephalopathy 81
Deafness, Autosomal Dominant 71	DFNA71 Deafness, Autosomal Dominant, 71
Polyendocrine-Polyneuropathy Syndrome	PEPNS
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Deafness Type Dfna Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna Autosomal Dominant Isolated Sensorineural Deafness Type Dfna Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Spinocerebellar Ataxia 26	Spinocerebellar Ataxia Type 26 SCA26 Ataxia, Spinocerebellar, Type 26
Scrotum Melanoma	Melanoma Of Scrotum
Kohlschutter-Tonz Syndrome	Amelocerebrohypohidrotic Syndrome KTZS Epilepsy And Yellow Teeth Kohlschutter Tonz Syndrome Kohlschutter Syndrome Epilepsy Dementia Amelogenesis Imperfecta Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome Epilepsy, Dementia, And Amelogenesis Imperfecta Kohlschutter'S Syndrome Kohlschütter-Tönz Syndrome Kohlschuetter-Toenz Syndrome Presenile Dementia Dementia
Hypogonadotropic Hypogonadism	Klinefelter Syndrome Klinefelter'S Syndrome Xxy Syndrome Xxy Trisomy Hypogonadotropism 47, Xxy Congenital Idiopathic Hypogonadotropic Hypogonadism Isolated Congenital Gonadotropin Deficiency 47,Xxy Syndrome 47, Xxy Syndrome Klinefelters Syndrome Hypogonadism Klinefelter Syndrome In Males Klinefelter Syndrome, Unspecified Klinefelter Syndrome Karyotype 47, Xxy
Nivelon-Nivelon-Mabille Syndrome	Chondrodysplasia-Pseudohermaphroditism Syndrome NNMS Chondrodysplasia-Disorder Of Sex Development Syndrome Nivelon Nivelon Mabille Syndrome
Polyneuropathy	Polyneuropathies
Aromatase Excess Syndrome	AEXS Increased Aromatase Activity Familial Hyperestrogenism Hereditary Prepubertal Gynecomastia Aromatase Activity, Increased Familial Gynecomastia Due To Increased Aromatase Activity Hereditary Gynecomastia Gynecomastia, Familial Familial Gynecomastia
Anus Benign Neoplasm	Anal Neoplasm Anal Tumors Neoplasm Of Anus Anus Neoplasms
Spastic Paraplegia 15, Autosomal Recessive	SPG15 Kjellin Syndrome Hereditary Spastic Paraplegia 15 Spastic Paraplegia And Retinal Degeneration Autosomal Recessive Spastic Paraplegia Type 15 Hereditary Spastic Paraparesis Type 15 Spastic Paraplegia-Retinal Degeneration Syndrome Autosomal Recessive Spastic Paraplegia 15
Gordon Holmes Syndrome	Cerebellar Ataxia And Hypogonadotropic Hypogonadism Lhrh Deficiency And Ataxia Cerebellar Ataxia-Hypogonadism Syndrome GDHS Cahh Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia Gordon-Holmes Syndrome Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia Cerebellar Ataxia - Hypogonadism Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Waardenburg Syndrome, Type 4a	Waardenburg-Shah Syndrome Shah-Waardenburg Syndrome Waardenburg Syndrome Type 4a WS4A Ws4 Waardenburg Syndrome Type 4 Waardenburg Syndrome Type Iva Waardenburg Syndrome With Hirschsprung Disease Type 4a Hirschsprung Disease With Pigmentary Anomaly Waardenburg-Hirschsprung Syndrome Waardenburg Syndrome, Type Iva Waardenburg Syndrome With Hirschsprung Disease, Type 4a Waardenburg-Hirschsprung Disease Waardenburg Syndrome, Type 4 Waardenburg Syndrome 4a
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03837	DMXL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	DMXL2	VGNC	VGNC:40007
Macaca mulatta	DMXL2	VGNC	VGNC:71936
Felis catus	DMXL2	VGNC	VGNC:61535
Rattus norvegicus	DMXL2	RGD	RGD:1586163
Mus musculus	DMXL2	MGD	MGI:2444630
Bos taurus	DMXL2	VGNC	VGNC:55110
Others	DMXL2	NCBI