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ZNF462 - zinc finger protein 462 Gene

Also Known as WSKA; ZFPIP; Zfp462

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 58499

About ZNF462

Cytogenetic location: 9q31.2 Genomic coordinates (GRCh38): 9:106,860,158-107,013,634 (from NCBI)

This gene has 12 transcripts (splice variants), 215 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 2.5), thyroid (RPKM 2.5) and 23 other tissues.

Summary

The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

ZNF462 Products (2)

mRNA	Protein	Name
NM_001347997.2	NP_001334926.1	zinc finger protein 462 isoform 2
NM_021224.6	NP_067047.4	zinc finger protein 462 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27705803	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

ZNF462 Protein Structure

zf-H2C2_5

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2506 a.a.

Protein Preferred Names	Protein Names
zinc finger protein 462	zinc finger PBX1-interacting protein

ZNF462 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ZNF462	Q96JM2	EHMT2	Homo sapiens	Q96KQ7	Validated Y2H	32296183
Intra	ZNF462	Q96JM2	EHMT2	Homo sapiens	Q96KQ7	Y2H Prey Pooling	32296183
Intra	ZNF462	Q96JM2	EHMT2	Homo sapiens	Q96KQ7	Y2H Array	32296183
Intra	ZNF462	Q96JM2	EHMT2	Homo sapiens	Q96KQ7	TAP	27705803
Intra	ZNF462	Q96JM2	EHMT2	Homo sapiens	Q96KQ7	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Weiss-Kruszka Syndrome	WSKA Znf462 Disorder
Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Branchiootic Syndrome	Bo Syndrome Branchiootic Dysplasia Bor Bo Syndrome 1 Bos1 Branchiootic Syndrome 1
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS16144	ZNF462 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ZNF462	MGD	MGI:107690
Canis familiaris	ZNF462	VGNC	VGNC:48734
Felis catus	ZNF462	VGNC	VGNC:67309
Macaca mulatta	ZNF462	VGNC	VGNC:79331
Bos taurus	ZNF462	VGNC	VGNC:37280
Rattus norvegicus	ZNF462	RGD	RGD:1562123
Others	ZNF462	NCBI