1. Gene
  2. CDKN1C - cyclin dependent kinase inhibitor 1C Gene

CDKN1C - cyclin dependent kinase inhibitor 1C Gene

Homo sapiens

Also known as BWS; WBS; p57; BWCR; KIP2; p57Kip2

Gene ID: 1028 | Gene type: protein coding

About CDKN1C

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:2,883,218-2,885,775 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 219 orthologues, 2 paralogues and is associated with 8 phenotypes. Biased expression in placenta (RPKM 87.0), fat (RPKM 42.6) and 9 other tissues.

Summary

This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/CDK complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

CDKN1C Products(5)

mRNA Protein Name
NM_000076.2 NP_000067.1 cyclin-dependent kinase inhibitor 1C isoform a
NM_001122630.2 NP_001116102.1 cyclin-dependent kinase inhibitor 1C isoform b
NM_001122631.2 NP_001116103.1 cyclin-dependent kinase inhibitor 1C isoform b
NM_001362474.2 NP_001349403.1 cyclin-dependent kinase inhibitor 1C isoform a
NM_001362475.2 NP_001349404.1 cyclin-dependent kinase inhibitor 1C isoform c

CDKN1C Protein Structure

CDI

CDI: Cyclin-dependent kinase inhibitor (31 - 83)

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

cyclin-dependent kinase inhibitor 1C

cyclin-dependent kinase inhibitor 1C (p57, Kip2)

Related Diseases

Diseases Alias
Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Image Syndrome

IMAGE

Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies

Image Anomaly

Image Association

Fetal Growth Retardation

Pyle Metaphyseal Dysplasia

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Silver-Russell Syndrome Due To A Point Mutation
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Omphalocele

Omphalocoele

Congenital Omphalocele

Exomphalos

Exumbilication

Macroglossia

Congenital Macroglossia

Enlarged Tongue

Giant Tongue

Acquired Macroglossia Nos

Congenital Hypertrophy Of Tongue

Fallopian Tube Gestational Choriocarcinoma

Gestational Choriocarcinoma Of The Fallopian Tube

Umbilical Hernia

Hernia, Umbilical

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Hydatidiform Mole, Recurrent, 1

Hydatidiform Mole

Gestational Trophoblastic Disease

Complete Hydatidiform Mole

Hydm

HYDM1

Chm

Molar Pregnancy

Hydatidiform Mole, Complete

Hydatid Mole

Complete Molar Pregnancy

Mole, Hydatidiform, Recurrent, Type 1

Gestational Trophoblastic Neoplasms

Hydatidiform Mole, Recurrent, 2

Classical Hydatidiform Mole

Gestational Trophoblastic Neoplasm

Hydatidiform Mole

Molar Pregnancy

Gestational Trophoblastic Neoplasia

Gestational Trophoblastic Tumor

Gtn

Gestational Trophoblastic Disease

Gestational Trophoblastic Neoplasms

Hydatidiform Mole, Recurrent, 1

Hydatidiform Mole Benign

Trophoblastic Disease

Trophoblastic Disease Nos

Trophoblastic Disorder

Vesicular Mole Nos

Vesicular Mole

Hydatidiform Mole Nos

Adult Acute Lymphocytic Leukemia

Adult Acute Lymphoid Leukemia

Adult All

Metaphyseal Dysplasia

Bakwin-Krida Syndrome

Pyle'S Disease

Pyle-Cohn Syndrome

Choriocarcinoma

Chorioepithelioma

Hemihyperplasia, Isolated

Hemihypertrophy

Hemihyperplasia

Isolated Hemihyperplasia

IH

Hhp

Hemihypertrophy, Isolated

Hemi 3 Syndrome

Hemicorporal Hypertrophy

Isolated Hemihypertrophy

Hemi-3 Syndrome

Chorioangioma

Placental Hemangioma

Hepatoblastoma
Mulchandani-Bhoj-Conlin Syndrome

MBCS

Maternal Uniparental Disomy Of Chromosome 20

Maternal Upd(20)

Upd(20)Mat

Uniparental Disomy, Maternal, Chromosome 20

Adrenal Cortical Adenoma

Adrenocortical Adenoma

Adenoma Adrenocortical

Adrenal Cortical Carcinoma

Adrenocortical Carcinoma

Adrenal Cortex Carcinoma

Carcinoma Of The Adrenal Cortex

Acc

Adrenocortical Cancer

Carcinoma Adrenocortical

Adrenal Adenoma

Adenoma Of The Adrenal Gland

Adrenal Incidentaloma

Adrenal Cortical Adenoma

Adrenocortical Adenoma

Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome

SPG17

Silver Spastic Paraplegia Syndrome

Spastic Paraplegia With Amyotrophy Of Hands And Feet

Hereditary Spastic Paraplegia 17

Autosomal Dominant Spastic Paraplegia Type 17

Spastic Paraplegia 17

Spastic Paraplegia-Amyotrophy Of Hands And Feet

Autosomal Dominant Spastic Paraplegia 17

Dhmn5b

Distal Hereditary Motor Neuropathy Type 5b

Paraplegia, Spastic, Autosomal Dominant, Type 17

Russell-Silver Syndrome

Neuronopathy, Distal Hereditary Motor, Type Vb

Adrenal Carcinoma

Adrenal Cancer

Adrenal Gland Cancer

Malignant Neoplasm Of Adrenal Gland

Adrenal Gland Neoplasms

Carcinoma Of The Adrenal Gland

Adrenal Neoplasm

Malignant Adrenal Tumor

Neoplasm Of Adrenal Gland

Tumor Of The Adrenal Gland

Adrenal Gland Neoplasm

Adrenocortical Carcinoma

Adrenal Gland Malignancy

Suprarenal Cancer

Malignant Neoplasm Of Suprarenal Gland

Malignant Neoplasm Of Adrenal Gland, Unspecified

Malignant Tumour Of Adrenal Gland

Suprarenal Gland Cancer

Primary Malignant Neoplasm Of Adrenal Gland

Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome

Wilms Tumor 5

Wilms Tumor

WT5

Wilms Tumor Susceptibility-5

Wilms Tumor And Radial Bilateral Aplasia

Nephroblastoma

Wilms' Tumor

Wilms Tumor, Susceptibility To

Wtsl

Bilateral Radial Aplasia With Wilms Tumor

Embryonal Adenosarcoma

Embryonal Nephroma

Kidney Wilms Tumor

Kidney, Adenomyosarcoma, Embryonal

Kidney, Carcinosarcoma, Embryonal

Kidney, Embryoma

Kidney, Embryonal Mixed Tumor

Nephroma

Renal Adenosarcoma

Renal Cancer, Wilms

Renal Wilms Tumor

Tumor, Wilms

Hereditary Susceptibility To Wilms Tumor 5

Follicular Lymphoma

Lymphoma, Follicular

Lymphoma Follicular

Brill-Symmers' Disease

Large Cell Follicular Non-Hodgkin Lymphoma

Diffuse Follicle Centre Lymphoma

Diffuse Follicular Lymphoma Nos

Follicular Nodular Non-Hodgkin Lymphoma, Unspecified

Follicular Large Cell Cleaved Or Noncleaved Lymphoma

Large Cell Follicular Noncleaved Lymphoma

Follicular Lymphoma With Or Without Diffuse Areas

Histiocytic Follicular Lymphoma

Histiocytic Nodular Lymphoma

Histiocytic Nodular Malignant Lymphoma

Large Cell Follicular Lymphoma

Large Cell Noncleaved Follicular Lymphoma

Large Cell Noncleaved Follicular Malignant Lymphoma

Nodular Reticulum Cell Sarcoma

Noncleaved Follicular Lymphoma

Trophoblastic Neoplasm

Trophoblastic Tumor

Trophoblastic Neoplasms

B-Cell Lymphoma

Lymphoma, B-Cell

B-Cell Lymphomas

B-Cell Lymphocytic Neoplasm

Lymphoma B-Cell

B-Cell Lymphoma Nos

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Adrenal Hypoplasia, Congenital

X-Linked Adrenal Hypoplasia Congenita

Congenital Adrenal Hypoplasia

AHC

Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism

Adrenal Hypoplasia Congenita

X-Linked Ahc

Ahch

Ahx

Ahc With Hhg

Cytomegalic Adrenocortical Hypoplasia

Ahc With Isolated Gonadotropin Deficiency

X-Linked Congenital Adrenal Hypoplasia

Congenital Adrenal Hypoplasia, X-Linked

Addison Disease, X-Linked

Primary Adrenal Hypoplasia

Adrenal Hypoplasia Congenital, X-Linked

X-Linked Addison Disease

X-Linked Adrenal Hypoplasia Congenital

Congenital Hypoplasia Of Adrenal Gland

Congenital Adrenal Gland Hypoplasia

Congenital Small Adrenal Gland

Adrenal Hypoplasia

Cah - [Congenital Adrenal Hypoplasia]

Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Vallecula Cancer

Malignant Tumor Of Vallecula

Pleomorphic Rhabdomyosarcoma

Adult Pleomorphic Rhabdomyosarcoma

Anaplastic Rhabdomyosarcoma

Pleomorphic Rhabdomyosarcoma, Adult Type

Temple Syndrome

Uniparental Disomy, Maternal, Chromosome 14

Temple Syndrome Due To Paternal 14q32.2 Microdeletion

Paternal Del(14)(Q32.2)

Temple Syndrome Due To Paternal 14q32.2 Hypomethylation

Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14

Upd(14)Mat

Rhabdomyosarcoma
Hematologic Cancer

Hematologic Neoplasm

Hematologic Neoplasms

Hematologic Malignancies

Blood Cancer

Hematologic Malignancy

Hematological Tumors

Hematopoietic And Lymphoid System Tumor

Hematopoietic Cancer

Hematopoietic Neoplasm

Hematopoietic Tumors

Malignant Hematopoietic Neoplasm

Liquid Tumor

Hematopoietic Neoplasms

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

Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, Type 1

Transient Neonatal Diabetes Mellitus

Diabetes Mellitus, Transient Neonatal

Tndm

Chromosome 6-Associated Transient Diabetes Mellitus

Dmtn

Diabetes Mellitus, 6q24-Related Transient Neonatal

Tndm1

Neonatal Diabetes Mellitus, Transient

Tndm -[Transient Neonatal Diabetes Mellitus]

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Burkitt Lymphoma

Burkitt'S Lymphoma

BL

Burkitt Lymphoma, Somatic

Burkitt Lymphoma/Leukaemia

Burkitt'S Tumor

Burkitt'S Tumor Or Lymphoma

Malignant Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma

Burkitt Tumor

Burkitts Lymphoma

Lymphoma, Small Noncleaved-Cell

Burkitt Tumour

Diffuse Small Noncleaved Malignant Burkitt Lymphoma

Malignant Burkitt Lymphoma

“Burkitt-Like” Lymphoma

Undifferentiated Burkitt Lymphoma

Small Noncleaved Cell Burkitt Lymphoma

Familial Glucocorticoid Deficiency

Glucocorticoid Deficiency

Acth Resistance

Adrenal Unresponsiveness To Acth

Hereditary Unresponsiveness To Adrenocorticotropic Hormone

Isolated Glucocorticoid Deficiency

Glucocorticoid Deficiency, Familial

Glucocorticoid Deficiency 1

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Weaver Syndrome

Wss

Weaver-Smith Syndrome

WVS

Weaver-Like Syndrome

Weaver-Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies Syndrome

Camptodactyly - Overgrowth - Unusual Facies

Ezh2 Related Overgrowth

Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

Weaver Smith Syndrome

Weaver Like Syndrome

Weaver Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies

Weaver Syndrome 1

Weaver Syndrome 2

Wvs1

Wvs2

Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

Scoliosis
Polyhydramnios
Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia

ALL

Acute Lymphocytic Leukemia

Leukemia, Acute Lymphocytic, Susceptibility To, 1

Acute Lymphoblastic Leukaemia

Precursor Lymphoblastic Lymphoma/Leukemia

Precursor Lymphoid Neoplasm

Leukemia, Acute Lymphoblastic, Susceptibility To

B-Cell Acute Lymphoblastic Leukemia

Leukemia, Acute Lymphocytic 1

Acute Lymphocytic Leukaemia

Acute Lymphoblastic Leukemia/Lymphoma

All1

Childhood Acute Lymphoblastic Leukemia

Leukemia Acute Lymphoblastic 1

Leukemia Acute Lymphoblastic B-Hyperdiploid

Leukemia Acute Lymphocytic

Leukemia Acute Lymphocytic 1

Leukemia B-Cell Acute Lymphoblastic

Leukemia T-Cell Acute Lymphoblastic

Leukemia, Acute Lymphoblastic, 3

ALL3

Lymphoblastic Leukemia Acute

Leukemia, Acute, Lymphoblastic

Precursor Cell Lymphoblastic Leukemia Lymphoma

Leukemia, Lymphocytic, Acute, L1

Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Sotos Syndrome

Cerebral Gigantism

SOTOS

Chromosome 5q35 Deletion Syndrome

Sotos Syndrome 1, Formerly

Sotos1, Formerly

Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

Sotos Sequence

Sotos' Syndrome

Sotos1

Sotos Syndrome 1

Rasopathy

Ras/Mitogen-Activated Protein Kinase 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 CDKN1C VGNC VGNC:100908
Bos taurus CDKN1C VGNC VGNC:27144
Felis catus CDKN1C VGNC VGNC:102754
Mus musculus CDKN1C MGD MGI:104564
Rattus norvegicus CDKN1C RGD RGD:727892