ZNF274 - zinc finger protein 274 Gene

Also Known as ZF2; HFB101; ZSCAN51; ZKSCAN19

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10782

About ZNF274

Cytogenetic location: 19q13.43 Genomic coordinates (GRCh38): 19:58,183,061-58,213,562 (from NCBI)

This gene has 14 transcripts (splice variants), 337 orthologues and 29 paralogues. Ubiquitous expression in thyroid (RPKM 9.7), ovary (RPKM 7.7) and 25 other tissues.

Summary

This gene encodes a Zinc Finger Protein containing five C2H2-type zinc finger domains, one or two Kruppel-associated box A (KRAB A) domains, and a leucine-rich domain. The encoded protein has been suggested to be a transcriptional repressor. It localizes predominantly to the nucleolus. Alternatively spliced transcript variants encoding different isoforms exist. These variants utilize alternative polyadenylation signals. [provided by RefSeq, Jul 2008]

ZNF274 Products (4)

mRNA Protein Name
NM_001278734.2 NP_001265663.1 neurotrophin receptor-interacting factor homolog isoform d
NM_016324.4 NP_057408.2 neurotrophin receptor-interacting factor homolog isoform b
NM_016325.4 NP_057409.1 neurotrophin receptor-interacting factor homolog isoform a
NM_133502.3 NP_598009.1 neurotrophin receptor-interacting factor homolog isoform c
Molecular Function GO Annotation Evidence References Source
enables chromatin binding IDA
IDA: Inferred from direct assay
27029610 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21170338 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
21170338 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence References Source
involved in chromatin remodeling IMP
IMP: Inferred from mutant phenotype
27029610 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

ZNF274 Protein Structure

KRAB

KRAB: KRAB box (14 - 54)

SCAN

SCAN: SCAN domain (156 - 245)

KRAB

KRAB: KRAB box (286 - 326)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (521 - 544)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (548 - 572)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (578 - 600)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (604 - 628)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 652 a.a.
Protein Preferred Names Protein Names

neurotrophin receptor-interacting factor homolog

  • KRAB zinc finger protein HFB101

Related Diseases

Diseases Alias
Nephrotic Syndrome, Type 4
  • NPHS4

  • Nephrotic Syndrome Type 4

  • Nephrotic Syndrome 4

  • Isolated Diffuse Mesangial Sclerosis

Immunodeficiency 21
  • Monocytopenia And Mycobacterial Infection Syndrome

  • Monomac

  • Gata2 Deficiency

  • Monocytopenia With Susceptibility To Infections

  • Dcml

  • IMD21

  • Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency

  • Monocytopenia With Susceptibility To Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia

  • Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral, And Fungal Infections

  • Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral And Fungal Infections

  • Dendritic Cell, Monocyte, B And Nk Lymphoid Deficiency

  • Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome

  • Monocytopenia With Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia

  • Combined Immunodeficiency With Mycobacterial, Viral, And Fungal Infections

  • Monocyte - B - Natural Killer - Dendritic Cell Deficiency

  • Combined Immunodeficiency With Susceptibility To Mycobacterial Viral And Fungal Infections

  • Dendritic Cell Monocyte Lymphocyte B And Natural Killer Lymphocyte Deficiency

  • Monocytopenia With Susceptibility To Mycobacterial Fungal And Papillomavirus Infections And Myelodysplasia

Hypoparathyroidism-Deafness-Renal Disease Syndrome
  • Barakat Syndrome

  • Hypoparathyroidism, Deafness, Renal Disease Syndrome

  • Hdr Syndrome

  • Hypoparathyroidism, Sensorineural Deafness, And Renal Disease

Prader-Willi Syndrome
  • Prader-Labhart-Willi Syndrome

  • PWS

  • Willi-Prader Syndrome

  • Prader-Willi Syndrome Due To Translocation

  • Prader-Willi Syndrome Due To Imprinting Mutation

  • Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

  • Prader Willi Syndrome

  • Upd(15)Mat

Denys-Drash Syndrome
  • Drash Syndrome

  • DDS

  • Nephropathy, Wilms Tumor, And Genital Anomalies

  • Wilms Tumor And Pseudohermaphroditism

  • Wilms Tumor And Pseudo- Or True Hermaphroditism

  • Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor

  • Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor

  • Wilms Tumor-Dsd Syndrome

  • Wilms Tumor-Disorder Of Sex Development Syndrome

Frasier Syndrome
  • FS

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
  • Wagr Syndrome

  • 11p Partial Monosomy Syndrome

  • Chromosome 11p13 Deletion Syndrome

  • Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome

  • 11p Deletion Syndrome

  • Chromosome 11p Deletion Syndrome

  • Wagr Complex

  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome

  • Deletion 11p13

  • WAGR

  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome

  • Chromosome 11p Deletion

  • 11p Deletion

  • 11p Monosomy

  • Deletion 11p

  • Monosomy 11p

  • Partial Monosomy 11p

  • Agr Triad

  • Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome

  • Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome

  • Wagr Contiguous Gene Syndrome

  • Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome

  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome

  • Del(11)(P13)

  • Monosomy 11p13

  • Chromosome 11, Deletion 11p

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
Felis catus ZNF274 VGNC VGNC:67284
Macaca mulatta ZNF274 VGNC VGNC:78889
Mus musculus ZNF274 MGD MGI:1890378
Rattus norvegicus ZNF274 RGD RGD:1306339
Bos taurus ZNF274 VGNC VGNC:37235