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ELP2 - elongator acetyltransferase complex subunit 2 Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 55250

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
contributes to RNA polymerase II complex binding	IDA IDA: Inferred from direct assay	11714725	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
part of elongator holoenzyme complex	IDA IDA: Inferred from direct assay	22854966	GOA
part of elongator holoenzyme complex	IPI IPI: Inferred from physical interaction	22854966	GOA
part of transcription elongation factor complex	IDA IDA: Inferred from direct assay	11714725	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

ELP2 Protein Structure

WD40

0
200
400
600
826 a.a.

Protein Preferred Names	Protein Names
elongator complex protein 2	STAT3-interacting protein 1

関連疾患

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS04329	ELP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	ELP2	NCBI