DMXL2 - Dmx like 2 Gene

Homo sapiens

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

Gene ID: 23312 | Gene type: protein coding

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

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

Bioactive Molecules (1)

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

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