1. Gene
  2. NELFA - negative elongation factor complex member A Gene

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
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

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