ELP2 - elongator acetyltransferase complex subunit 2 Gene

Homo sapiens

Also known as StIP; MRT58; SHINC-2; STATIP1

Gene ID: 55250 | Gene type: protein coding

About ELP2

Cytogenetic location: 18q12.2 Genomic coordinates (GRCh38): 18:36,129,899-36,180,557 (from NCBI)

This gene has 28 transcripts (splice variants), 206 orthologues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 15.2), endometrium (RPKM 11.7) and 25 other tissues.

Summary

The protein encoded by this gene is a core subunit of the elongator complex, a Histone Acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]

ELP2 Products(10)

mRNA	Protein	Name
NM_001242875.3	NP_001229804.1	elongator complex protein 2 isoform 1
NM_001242876.3	NP_001229805.1	elongator complex protein 2 isoform 3
NM_001242877.3	NP_001229806.1	elongator complex protein 2 isoform 4
NM_001242878.3	NP_001229807.1	elongator complex protein 2 isoform 5
NM_001242879.3	NP_001229808.1	elongator complex protein 2 isoform 6
NM_001324465.2	NP_001311394.1	elongator complex protein 2 isoform 7
NM_001324466.2	NP_001311395.1	elongator complex protein 2 isoform 8
NM_001324467.2	NP_001311396.1	elongator complex protein 2 isoform 9
NM_001324468.2	NP_001311397.1	elongator complex protein 2 isoform 10 precursor
NM_018255.4	NP_060725.1	elongator complex protein 2 isoform 2

ELP2 Protein Structure

WD40

0
200
400
600
826 a.a.

Protein Preferred Names

Protein Names

elongator complex protein 2

STAT3-interacting protein 1

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Recessive 58

MRT58	Mental Retardation, Autosomal Recessive 58
Autosomal Recessive Intellectual Developmental Disorder 58	Mental Retardation, Autosomal Recessive, Type 58

Autosomal Recessive Intellectual Disability 58

Intellectual Disability, Autosomal Recessive 58	Elp2-Related Disorder
Elp2-Related Disorders

Neuropathy, Hereditary Sensory And Autonomic, Type Iii

Familial Dysautonomia	Riley-Day Syndrome
Dysautonomia, Familial	HSAN3
Hsan Iii	Fd
Hereditary Sensory And Autonomic Neuropathy Type Iii	Dys
Hereditary Sensory And Autonomic Neuropathy 3	Riley Day Syndrome
Familial Autonomic Nervous Dysfunction	Hereditary Sensory Autonomic Neuropathy Type Iii
Hsan 3	Hsn 3
Hereditary Sensory Neuropathy Type 3	Hsan Type Iii
Hsn-Iii	Hereditary Sensory And Autonomic Neuropathy Type 3
Neuropathy, Hereditary Sensory And Autonomic, 3	Hsn Iii
Dysautonomia Familial	Neuropathy, Sensory And Autonomic, Hereditary, Type Iii
Hsan3 - [Hereditary Sensory And Autonomic Neuropathy Type 3]

Spastic Diplegia

Diplegic Infantile Cerebral Palsy	Little'S Disease
Cerebral Palsy	Cerebral Spastic Infantile Paralysis
Infantile Diplegic Cerebral Palsy	Infantile Spastic Cerebral Palsy
Littles Disease	Spastic Cerebral Palsy

Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy	Hereditary Sensory And Autonomic Neuropathies
Familial Dysautonomia, Type Ii	Hsan
Sensory Neuropathy Hereditary	Neuropathy, Sensory And Autonomic, Hereditary
Neuropathy, Sensory, Hereditary	Sensory Neuropathy, Hereditary
Charcot-Marie-Tooth Disease	Cmt - [Charcot-Marie-Tooth Disease]

Spastic Cerebral Palsy

Palsy, Cerebral, Spastic	Infantile Hemiplegia Nos
Postnatal Infantile Hemiplegia Nos	Congenital Spastic Hemiplegia
Spastic Hemiplegic Cerebral Palsy	Congenital Hemiplegia Nos
Hemiplegic Cerebral Palsy	Hemiplegic Infantile Cerebral Palsy

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04329	ELP2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ELP2	RGD	RGD:1306419
Mus musculus	ELP2	MGD	MGI:1889642
Canis familiaris	ELP2	VGNC	VGNC:40327
Bos taurus	ELP2	VGNC	VGNC:28455
Macaca mulatta	ELP2	VGNC	VGNC:72069
Felis catus	ELP2	VGNC	VGNC:61826