ZNF346 - zinc finger protein 346 Gene

Also Known as JAZ; Zfp346

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23567

About ZNF346

Cytogenetic location: 5q35.2 Genomic coordinates (GRCh38): 5:177,022,696-177,081,189 (from NCBI)

This gene has 10 transcripts (splice variants), 200 orthologues and 9 paralogues. Ubiquitous expression in ovary (RPKM 2.4), thyroid (RPKM 2.2) and 25 other tissues.

Summary

The protein encoded by this gene is a nucleolar, Zinc Finger Protein that preferentially binds to double-stranded (ds) RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies indicate that the zinc finger domains are not only essential for dsRNA binding, but are also required for its nucleolar localization. The encoded protein may be involved in cell growth and survival. It plays a role in protecting neurons by inhibiting cell cycle re-entry via stimulation of p21 gene expression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

ZNF346 Products (10)

mRNA Protein Name
NM_001308213.2 NP_001295142.1 zinc finger protein 346 isoform b
NM_001308214.2 NP_001295143.1 zinc finger protein 346 isoform c
NM_001308215.2 NP_001295144.1 zinc finger protein 346 isoform d
NM_001308216.2 NP_001295145.1 zinc finger protein 346 isoform e
NM_001308218.2 NP_001295147.1 zinc finger protein 346 isoform f
NM_001308219.2 NP_001295148.1 zinc finger protein 346 isoform g
NM_001308221.2 NP_001295150.1 zinc finger protein 346 isoform h
NM_001308223.2 NP_001295152.1 zinc finger protein 346 isoform h
NM_001363713.2 NP_001350642.1 zinc finger protein 346 isoform i
NM_012279.4 NP_036411.1 zinc finger protein 346 isoform a
Molecular Function GO Annotation Evidence References Source
enables double-stranded RNA binding IDA
IDA: Inferred from direct assay
10488071 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
23382074 GOA
enables miRNA binding IDA
IDA: Inferred from direct assay
28431233 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21903422 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleolus IDA
IDA: Inferred from direct assay
10488071 GOA
located in nucleus IDA
IDA: Inferred from direct assay
10488071 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

ZNF346 Protein Structure

zf-met

zf-met: Zinc-finger of C2H2 type (74 - 97)

zf-met

zf-met: Zinc-finger of C2H2 type (136 - 158)

zf-met

zf-met: Zinc-finger of C2H2 type (186 - 209)

zf-met

zf-met: Zinc-finger of C2H2 type (241 - 263)

  • 0
  • 100
  • 200
  • 294 a.a.
Protein Preferred Names Protein Names

zinc finger protein 346

  • double-stranded RNA-binding zinc finger protein JAZ

ZNF346 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ZNF346 Q9UL40 YWHAG Homo sapiens P61981 32814053
Intra
ZNF346 Q9UL40 YWHAG Homo sapiens P61981 32814053
Intra
ZNF346 Q9UL40 YWHAG Homo sapiens P61981 32814053
Intra
ZNF346 Q9UL40 KAT5 Homo sapiens Q92993 32814053
Intra
ZNF346 Q9UL40 KAT5 Homo sapiens Q92993 32814053
Intra
ZNF346 Q9UL40 KAT5 Homo sapiens Q92993 32814053
Intra
ZNF346 Q9UL40 EIF2AK2 Homo sapiens P19525 21903422
Intra
ZNF346 Q9UL40 NKRF Homo sapiens O15226 33961781
Intra
ZNF346 Q9UL40 SETDB1 Homo sapiens Q15047-2 32814053
Intra
ZNF346 Q9UL40 SETDB1 Homo sapiens Q15047-2 32814053
Intra
ZNF346 Q9UL40 SETDB1 Homo sapiens Q15047-2 32814053
Intra
ZNF346 Q9UL40 TARBP2 Homo sapiens Q15633 25416956
Intra
ZNF346 Q9UL40 TARBP2 Homo sapiens Q15633 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
  • Schinzel Phocomelia Syndrome

  • Aarrs

  • Limb/Pelvis-Hypoplasia/Aplasia Syndrome

  • LPHAS

  • Schinzel Type Phocomelia

  • Absence Of Ulna And Fibula With Severe Limb Deficiency

  • Al-Awadi/Raas-Rothschild Syndrome

  • Al Awadi-Raas-Rothschild Syndrome

  • Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

  • Aplasia/Hypoplasia Of Limbs And Pelvis

  • Congenital Absence Of Ulna And Fibula

  • Severe Limb Deficit

  • Phocomelia, Schinzel Type

  • Al-Awadi-Raas-Rothschild Syndrome

  • Ulna And Fibula Absence Of With Severe Limb Deficiency

  • Limb Pelvis Hypoplasia Aplasia Syndrome

  • Limb/Pelvis/Uterus-Hypoplasia/Aplasia Syndrome

  • Ulna And Fibula, Absence Of, With Sever Limb Deficiency

Mite Infestation
  • Mite Infestations

  • Acariasis

  • Infestation By Mites Nos

Arthrogryposis Multiplex Congenita 2, Neurogenic Type
  • Arthrogryposis Multiplex Congenita, Neurogenic Type

  • Amcn

  • Arthrogryposis Multiplex Congenita Neurogenic Type

  • AMC2

  • Amc, Neurogenic Type

  • Neurogenic-Type Arthrogryposis Multiplex Congenita-2

  • Amc Neurogenic Type

  • Neurogenic Type Of Amc

  • Neurogenic Arthrogryposis Multiplex Congenita

  • Arthrogryposis Multiplex Congenita, Neurogenic

Advanced Sleep Phase Syndrome, Familial, 3
  • Advanced Sleep Phase Syndrome 3

  • FASPS3

  • Familial Advanced Sleep Phase Syndrome 3

  • Sleep Phase Syndrome, Advanced, Familial, Type 3

Parasitic Ectoparasitic Infectious Disease
  • Ectoparasitic Infestations

  • Ectoparasitism

Phenylketonuria
  • Phenylalanine Hydroxylase Deficiency

  • PKU

  • Pah Deficiency

  • Folling Disease

  • Maternal Phenylketonuria

  • Phenylketonurias

  • Oligophrenia Phenylpyruvica

  • Hyperphenylalaninemia, Non-Pku Mild

  • Folling'S Disease

  • Phenylalaninemia

  • Mild Phenylketonuria

  • Mild Pku

  • Variant Pku

  • Variant Phenylketonuria

  • Mpku

  • Deficiency Disease, Phenylalanine Hydroxylase

  • Phenylketonuria, Maternal

  • Phenylalanine Hydroxylase Deficiency Disease

  • Hyperphenylalaninemic Embryopathy

  • Maternal Pku

  • Maternal Hyperphenylalaninemia

  • Phenylketonuric Embryopathy

  • Hyperphenylalaninemia

  • HPA

  • Non-Phenylketonuria Hyperphenylalaninemia

  • NON-PKU HPA

  • Phenylketonuria Maternal

  • Classical Phenylketonuria

  • Hyperphenylalaninaemia

  • Pku - [Phenylketonuria]

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
  • Wilson-Turner Syndrome

  • WTS

  • Mrxs6

  • X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome

  • Mrxswt

  • Wilson-Turner X-Linked Mental Retardation Syndrome

  • Mental Retardation, X-Linked, Syndromic 6

  • Mental Retardation, X-Linked, With Gynecomastia And Obesity

  • Intellectual Disability, X-Linked, Syndromic 6

  • Intellectual Disability, X-Linked, With Gynecomastia And Obesity

  • Wilson Turner Intellectual Disability Syndrome

  • X-Linked Intellectual Disability - Gynecomastia - Obesity

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 ZNF346 VGNC VGNC:79034
Rattus norvegicus ZNF346 RGD RGD:1308068
Bos taurus ZNF346 VGNC VGNC:37254
Felis catus ZNF346 VGNC VGNC:102370
Canis familiaris ZNF346 VGNC VGNC:48706
Mus musculus ZNF346 MGD MGI:1349417
Others ZNF346 NCBI