NELFA - negative elongation factor complex member A Gene

Homo sapiens

Also known as WHSC2; NELF-A; P/OKcl.15

Gene ID: 7469 | Gene type: protein coding

About NELFA

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:1,982,723-2,008,974 (from NCBI)

Ubiquitous expression in testis (RPKM 9.8), ovary (RPKM 6.6) and 25 other tissues.

Summary

This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of Cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008]

NELFA Products(1)

mRNA	Protein	Name
NM_005663.5	NP_005654.4	negative elongation factor A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables molecular adaptor activity	IDA IDA: Inferred from direct assay	30135580	GOA
enables molecular adaptor activity	IPI IPI: Inferred from physical interaction	30135580	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12612062	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of transcription elongation by RNA polymerase II	IDA IDA: Inferred from direct assay	12612062	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of NELF complex	IDA IDA: Inferred from direct assay	12612062	GOA
part of NELF complex	IPI IPI: Inferred from physical interaction	12612062	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12612062	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

Protein Preferred Names

Protein Names

negative elongation factor A

wolf-Hirschhorn syndrome candidate 2 protein

Related Diseases

Diseases

Alias

Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome	WHS
Chromosome 4p16.3 Deletion Syndrome	Wittwer Syndrome
4p- Syndrome	Pitt Syndrome
4p Deletion Syndrome	Distal Deletion 4p
Distal Monosomy 4p	Telomeric Deletion 4p
Prds	4p Syndrome
Chromosome 4p Syndrome	Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation
Wolf Syndrome	Chromosome 4p Deletion Syndrome
Chromosome 4p Monosomy	Del Syndrome
Monosomy 4p	Partial Monosomy 4p
Chromosome 4 Short Arm Deletion

Hepatitis D

Delta Hepatitis	Hepatitis Delta
Hdv	Hepatitis D Virus
Hepatitis D Infection

Waardenburg Syndrome, Type 3

Waardenburg Syndrome Type 3	Klein-Waardenburg Syndrome
WS3	Waardenburg Syndrome With Upper Limb Anomalies
Waardenburg Syndrome Type Iii	Waardenburg Syndrome, Type Iii
White Forelock Syndrome With Multiple Congenital Malformations	Waardenburg Syndrome With Limb Anomalies
Waardenburg Syndrome 3	White Forelock With Malformations
Klein'S Syndrome

Oligomeganephronia

Oligomeganephronic Renal Hypoplasia

Oligomeganephronic Hypoplasia Of Kidney

Chromosomal Deletion Syndrome

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-RS09201	NELFA Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	NELFA	VGNC	VGNC:75164
Felis catus	NELFA	VGNC	VGNC:63771
Canis familiaris	NELFA	VGNC	VGNC:43736
Bos taurus	NELFA	VGNC	VGNC:32000
Mus musculus	NELFA	MGD	MGI:1346098
Rattus norvegicus	NELFA	RGD	RGD:1305556

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